Version 2.0 of IGDD is coming up soon. The updated database will include complex diseases and mitochondrial disorders.

  
     GENE DETAILS AND SUMMARY:
  

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Mutation Statistics for Gene: 'MYH7' Causing: ''
Geographical Distribution of PatientsPrevalent MutationsSummary Sheet
Gene NameFVIII
Chromosomal LocationXq28
Nucleotide AccessionNM_000132.3 (9048 bp)
Protein AccessionNP_000123.1 (2351 aa)
Genecards LinkView FVIII gene at Genecards
Uniprot LinkP00451
KEGG LinkView FVIII gene at KEGG
PDB Link3CDZ
Entrez Link2157
OMIM Link306700
Mode of InheritanceX-linked Recessive
Gene NameFIX
Chromosomal LocationXq27.1-q27.2
Nucleotide AccessionNM_000133.3 (2802 bp)
Protein AccessionNP_000124.1 (461 aa)
Genecards LinkView FIX gene at Genecards
Uniprot LinkP00740
KEGG LinkView FIX gene at KEGG
PDB Link1IXA
Entrez Link2158
OMIM Link300746
Mode of InheritanceX-linked Recessive
Gene NameHBB
Chromosomal Location11q15.5
Nucleotide AccessionNM_000518.4 (626 bp)
Protein AccessionNP_000509.1 (147 aa)
Genecards LinkView HBB gene at Genecards
Uniprot LinkP68871
KEGG LinkView HBB gene at KEGG
PDB Link1GZX
Entrez Link3043
OMIM Link141900
Mode of InheritanceAutosomal Recessive
Gene NameATP7B
Chromosomal Location13q14.3-q21.1
Nucleotide AccessionNM_000053.2 (6644 bp)
Protein AccessionNP_000044.2 (1465 aa)
Genecards LinkView ATP7B gene at Genecards
Uniprot LinkP35670
KEGG LinkView ATP7B gene at KEGG
PDB Link2ARF
Entrez Link540
OMIM Link606882
Mode of InheritanceAutosomal Recessive
Gene NameTYR
Chromosomal Location11q14-q21
Nucleotide AccessionNM_000372.4 (2082 bp)
Protein AccessionNP_000363.1 (529 aa)
Genecards LinkView TYR gene at Genecards
Uniprot LinkP14679
KEGG LinkView TYR gene at KEGG
PDB LinkNA
Entrez Link7299
OMIM Link606933
Mode of InheritanceAutosomal Recessive
Gene NameHTT
Chromosomal Location4p16.3
Nucleotide AccessionNM_002111.6 (13481 bp)
Protein AccessionNP_002102.4 (3144 aa)
Genecards LinkView HTT gene at Genecards
Uniprot LinkP42858
KEGG LinkView HTT gene at KEGG
PDB LinkNA
Entrez Link3064
OMIM Link613004
Mode of InheritanceAutosomal Dominant
Gene NameDMPK
Chromosomal Location19q13.1-q13.3
Nucleotide AccessionNM_001081560.1 (2877 bp)
Protein AccessionNP_001075029 (624 aa)
Genecards LinkView DMPK gene at Genecards
Uniprot LinkQ09013
KEGG LinkView DMPK gene at KEGG
PDB Link2VD5
Entrez Link1760
OMIM Link605377
Mode of InheritanceAutosomal Dominant
Gene NameFXN
Chromosomal Location9q13
Nucleotide AccessionNM_000144.4 (7168 bp)
Protein AccessionNP_000135 (210 aa)
Genecards LinkView FXN gene at Genecards
Uniprot LinkQ16595
KEGG LinkView FXN gene at KEGG
PDB Link1EKG
Entrez Link2395
OMIM Link606829
Mode of InheritanceAutosomal Recessive
Gene NameATXN1
Chromosomal Location6p22-p23
Nucleotide AccessionNM_000332.3 (10636 bp)
Protein AccessionNP_000323.2 (815 aa)
Genecards LinkView ATXN1 gene at Genecards
Uniprot LinkP54253
KEGG LinkView ATXN1 gene at KEGG
PDB Link1OA8
Entrez Link6310
OMIM Link601556
Mode of InheritanceAutosomal Dominant
Gene NameATXN2
Chromosomal Location12q24
Nucleotide AccessionNM_002973.3 (4712 bp)
Protein AccessionNP_002964.3 (1313 aa)
Genecards LinkView ATXN2 gene at Genecards
Uniprot LinkQ99700
KEGG LinkView ATXN2 gene at KEGG
PDB LinkNA
Entrez Link6311
OMIM Link601517
Mode of InheritanceAutosomal Dominant
Gene NameATXN3
Chromosomal Location14q32.1
Nucleotide AccessionNM_001127696.1 (6878 bp)
Protein AccessionNP_001121168.1 (346 aa)
Genecards LinkView ATXN3 gene at Genecards
Uniprot LinkP54252
KEGG LinkView ATXN3 gene at KEGG
PDB Link2JRI
Entrez Link4287
OMIM Link607047
Mode of InheritanceAutosomal Dominant
Gene NameCACNA1A
Chromosomal Location19p13
Nucleotide AccessionNM_001127221.1 (8626 bp)
Protein AccessionNP_001120693 (2261 aa)
Genecards LinkView CACNA1A gene at Genecards
Uniprot LinkO00555
KEGG LinkView CACNA1A gene at KEGG
PDB LinkNA
Entrez Link773
OMIM Link601011
Mode of InheritanceAutosomal Dominant
Gene NameATXN7
Chromosomal Location3p21.1-p12
Nucleotide AccessionNM_000333.3 (7242 bp)
Protein AccessionNP_000324 (892 aa)
Genecards LinkView ATXN7 gene at Genecards
Uniprot LinkO15265
KEGG LinkView ATXN7 gene at KEGG
PDB LinkNA
Entrez Link6314
OMIM Link607640
Mode of InheritanceAutosomal Dominant
Gene NameGJB2
Chromosomal Location13q11-q12
Nucleotide AccessionNM_004004.5 (2347 bp)
Protein AccessionNP_003995.2 (226 aa)
Genecards LinkView GJB2 gene at Genecards
Uniprot LinkP29033
KEGG LinkView GJB2 gene at KEGG
PDB Link2ZW3
Entrez Link2706
OMIM Link121011
Mode of InheritanceAutosomal Recessive
Gene NameMYO7A
Chromosomal Location11q13.5
Nucleotide AccessionNM_000260.3 (7465 bp)
Protein AccessionNP_000251.3 (2215 aa)
Genecards LinkView MYO7A gene at Genecards
Uniprot LinkQ13402
KEGG LinkView MYO7A gene at KEGG
PDB LinkNA
Entrez Link4647
OMIM Link276903
Mode of InheritanceAutosomal Recessive
Gene NameOCA2
Chromosomal Location15q11.2-q12
Nucleotide AccessionNM_000275.2 (3154 bp)
Protein AccessionNP_000266.2 (838 aa)
Genecards LinkView OCA2 gene at Genecards
Uniprot LinkQ04671
KEGG LinkView OCA2 gene at KEGG
PDB LinkNA
Entrez Link4948
OMIM Link611409
Mode of InheritanceAutosomal Recessive
Gene NameSLC45A2
Chromosomal Location5p13.3
Nucleotide AccessionNM_016180.3 (1734 bp)
Protein AccessionNP_057264.3 (530 aa)
Genecards LinkView SLC45A2 gene at Genecards
Uniprot LinkQ9UMX9
KEGG LinkView SLC45A2 gene at KEGG
PDB LinkNA
Entrez Link51151
OMIM Link606202
Mode of InheritanceAutosomal Recessive
Gene NamePPP2R2B
Chromosomal Location5q31-q33
Nucleotide AccessionNM_004576 (2300 bp)
Protein AccessionNP_004567.1 (443 aa)
Genecards LinkView PPP2R2B gene at Genecards
Uniprot LinkQ00005
KEGG LinkView PPP2R2B gene at KEGG
PDB LinkNA
Entrez Link5521
OMIM Link604325
Mode of InheritanceAutosomal Dominant
Gene NamePAX6
Chromosomal Location11p13
Nucleotide AccessionNM_000280.3 (6947 bp)
Protein AccessionNP_000271.1 (422 aa)
Genecards LinkView PAX6 gene at Genecards
Uniprot LinkP26367
KEGG LinkView PAX6 gene at KEGG
PDB LinkNA
Entrez Link5080
OMIM Link607108
Mode of InheritanceAutosomal Dominant
Gene NameCYP1B1
Chromosomal Location2p22-p21
Nucleotide AccessionNM_000104.3 (5160 bp)
Protein AccessionNP_000095.2 (543 aa)
Genecards LinkView CYP1B1 gene at Genecards
Uniprot LinkQ16678
KEGG LinkView CYP1B1 gene at KEGG
PDB LinkNA
Entrez Link1545
OMIM Link601771
Mode of InheritanceAutosomal Dominant
Gene NameMYOC
Chromosomal Location1q24.3-q25.2
Nucleotide AccessionNM_000261 (2061 bp)
Protein AccessionNP_000252 (504 aa)
Genecards LinkView MYOC gene at Genecards
Uniprot LinkQ99972
KEGG LinkView MYOC gene at KEGG
PDB LinkNA
Entrez Link4653
OMIM Link601652
Mode of InheritanceAutosomal Dominant
Gene NameOPTC
Chromosomal Location1q32.1
Nucleotide AccessionNM_014359.3 (1444 bp)
Protein AccessionNP_055174 (332 aa)
Genecards LinkView OPTC gene at Genecards
Uniprot LinkQ9UBM4
KEGG LinkView OPTC gene at KEGG
PDB LinkNA
Entrez Link26254
OMIM Link605127
Mode of InheritanceNA
Gene NameOPTN
Chromosomal Location10p15-p14
Nucleotide AccessionNM_001008211.1 (3597 bp)
Protein AccessionNP_001008212 (577 aa)
Genecards LinkView OPTN gene at Genecards
Uniprot LinkQ96CV9
KEGG LinkView OPTN gene at KEGG
PDB LinkNA
Entrez Link10133
OMIM Link602432
Mode of InheritanceNA
Gene NameCYP1B1
Chromosomal Location2p22-p21
Nucleotide AccessionNM_000104.3 (5160 bp)
Protein AccessionNP_000095.2 (543 aa)
Genecards LinkView CYP1B1 gene at Genecards
Uniprot LinkQ16678
KEGG LinkView CYP1B1 gene at KEGG
PDB LinkNA
Entrez Link1545
OMIM Link601771
Mode of InheritanceAutosomal Recessive
Gene NameMYOC
Chromosomal Location1q24.3-q25.2
Nucleotide AccessionNM_000261 (2061 bp)
Protein AccessionNP_000252 (504 aa)
Genecards LinkView MYOC gene at Genecards
Uniprot LinkQ99972
KEGG LinkView MYOC gene at KEGG
PDB LinkNA
Entrez Link4653
OMIM Link601652
Mode of InheritanceAutosomal Recessive
Gene NameFOXC1
Chromosomal Location6p25
Nucleotide AccessionNM_001453.2 (3452 bp)
Protein AccessionNP_001444.2 (533 aa)
Genecards LinkView FOXC1 gene at Genecards
Uniprot LinkQ12948
KEGG LinkView FOXC1 gene at KEGG
PDB LinkNA
Entrez Link2296
OMIM Link601090
Mode of InheritanceAutosomal Recessive
Gene NameCYP1B1
Chromosomal Location2p22-p21
Nucleotide AccessionNM_000104.3 (5160 bp)
Protein AccessionNP_000095.2 (543 aa)
Genecards LinkView CYP1B1 gene at Genecards
Uniprot LinkQ16678
KEGG LinkView CYP1B1 gene at KEGG
PDB LinkNA
Entrez Link1545
OMIM Link601771
Mode of InheritanceNA
Gene NameATP7A
Chromosomal LocationXq12-q13
Nucleotide AccessionNM_000052.4 (8488 bp)
Protein AccessionNP_000043.3 (1500 aa)
Genecards LinkView ATP7A gene at Genecards
Uniprot LinkQ04656
KEGG LinkView ATP7A gene at KEGG
PDB LinkNA
Entrez Link538
OMIM Link300011
Mode of InheritanceX-linked Recessive
Gene NameRLBP1
Chromosomal Location15q26
Nucleotide AccessionNM_000326.4 (1752 bp)
Protein AccessionNP_000317.1 (317 aa)
Genecards LinkView RLBP1 gene at Genecards
Uniprot LinkP12271
KEGG LinkView RLBP1 gene at KEGG
PDB LinkNA
Entrez Link6017
OMIM Link180090
Mode of InheritanceAutosomal Recessive
Gene NameABCA4
Chromosomal Location1p22.1
Nucleotide AccessionNM_000350.2 (7326 bp)
Protein AccessionNP_000341.2 (2273 aa)
Genecards LinkView ABCA4 gene at Genecards
Uniprot LinkP78363
KEGG LinkView ABCA4 gene at KEGG
PDB LinkNA
Entrez Link24
OMIM Link601691
Mode of InheritanceAutosomal Recessive
Gene NameRHO
Chromosomal Location3q21-q24
Nucleotide AccessionNM_000539.3 (2768 bp)
Protein AccessionNP_000530.1 (348 aa)
Genecards LinkView RHO gene at Genecards
Uniprot LinkP08100
KEGG LinkView RHO gene at KEGG
PDB LinkNA
Entrez Link6010
OMIM Link180380
Mode of InheritanceAutosomal Dominant
Gene NameTULP1
Chromosomal Location6p21.3
Nucleotide AccessionNM_003322.3 (2107 bp)
Protein AccessionNP_003313.3 (542 aa)
Genecards LinkView TULP1 gene at Genecards
Uniprot LinkO00294
KEGG LinkView TULP1 gene at KEGG
PDB LinkNA
Entrez Link7287
OMIM Link602280
Mode of InheritanceAutosomal Recessive
Gene NameRPE65
Chromosomal Location1p31
Nucleotide AccessionNM_000329.2 (2608 bp)
Protein AccessionNP_000320.1 (533 aa)
Genecards LinkView RPE65 gene at Genecards
Uniprot LinkQ16518
KEGG LinkView RPE65 gene at KEGG
PDB LinkNA
Entrez Link6121
OMIM Link180069
Mode of InheritanceAutosomal Recessive
Gene NameRP1
Chromosomal Location8q11-q13
Nucleotide AccessionNM_006269.1 (7100 bp)
Protein AccessionNP_006260.1 (2156 aa)
Genecards LinkView RP1 gene at Genecards
Uniprot LinkP56715
KEGG LinkView RP1 gene at KEGG
PDB LinkNA
Entrez Link8568
OMIM Link610653
Mode of InheritanceAutosomal Recessive
Gene NamePRPF31
Chromosomal Location19q13.4
Nucleotide AccessionNM_015629.3 (2201 bp)
Protein AccessionNP_056444.3 (499 aa)
Genecards LinkView PRPF31 gene at Genecards
Uniprot LinkQ8WWY3
KEGG LinkView PRPF31 gene at KEGG
PDB LinkNA
Entrez Link26121
OMIM Link606419
Mode of InheritanceAutosomal Dominant
Gene NamePARK2
Chromosomal Location6q25.2-q27
Nucleotide AccessionNM_004562.1 (4073 bp)
Protein AccessionNM_004562.2 (465 aa)
Genecards LinkView PARK2 gene at Genecards
Uniprot LinkO60260
KEGG LinkView PARK2 gene at KEGG
PDB LinkNA
Entrez Link5071
OMIM Link602544
Mode of InheritanceAutosomal Recessive
Gene NamePINK1
Chromosomal Location1p36
Nucleotide AccessionNM_032409.2 (2680 bp)
Protein AccessionNP_115785.1 (581 aa)
Genecards LinkView PINK1 gene at Genecards
Uniprot LinkQ9BXM7
KEGG LinkView PINK1 gene at KEGG
PDB LinkNA
Entrez Link65018
OMIM Link608309
Mode of InheritanceAutosomal Recessive
Gene NameSLC4A11
Chromosomal Location20p13-p12
Nucleotide AccessionNM_032034 (3110 bp)
Protein AccessionNP_114423.1 (891 aa)
Genecards LinkView SLC4A11 gene at Genecards
Uniprot LinkQ8NBS3
KEGG LinkView SLC4A11 gene at KEGG
PDB LinkNA
Entrez Link83959
OMIM Link610206
Mode of InheritanceAutosomal Recessive
Gene NameEPM2A
Chromosomal Location6q24
Nucleotide AccessionNM_001018041.1 (1711 bp)
Protein AccessionNP_001018051.1 (317 aa)
Genecards LinkView EPM2A gene at Genecards
Uniprot LinkO95278
KEGG LinkView EPM2A gene at KEGG
PDB LinkNA
Entrez Link7957
OMIM Link607566
Mode of InheritanceAutosomal Recessive
Gene NameEPM2B
Chromosomal Location6p22.3
Nucleotide AccessionNM_198586.2 (2134 bp)
Protein AccessionNP_940988.2 (395 aa)
Genecards LinkView EPM2B gene at Genecards
Uniprot LinkQ6VVB1
KEGG LinkView EPM2B gene at KEGG
PDB LinkNA
Entrez Link378884
OMIM Link608072
Mode of InheritanceAutosomal Recessive
Gene NameMYO15A
Chromosomal Location17p11.2
Nucleotide AccessionNM_016239.3 (11876 bp)
Protein AccessionNP_057323.3 (3530 aa)
Genecards LinkView MYO15A gene at Genecards
Uniprot LinkQ9UKN7
KEGG LinkView MYO15A gene at KEGG
PDB LinkNA
Entrez Link51168
OMIM Link602666
Mode of InheritanceAutosomal Recessive
Gene NameCFTR
Chromosomal Location7q31.2
Nucleotide AccessionNM_000492.3 (6132 bp)
Protein AccessionNP_000483.3 (1480 aa)
Genecards LinkView CFTR gene at Genecards
Uniprot LinkP13569
KEGG LinkView CFTR gene at KEGG
PDB LinkNA
Entrez Link1080
OMIM Link602421
Mode of InheritanceAutosomal Recessive
Gene NameFGFR3
Chromosomal Location4p16.3
Nucleotide AccessionNM_000142.4 (4304 bp)
Protein AccessionNP_000133.1 (806 aa)
Genecards LinkView FGFR3 gene at Genecards
Uniprot LinkP22607
KEGG LinkView FGFR3 gene at KEGG
PDB LinkNA
Entrez Link2261
OMIM Link134934
Mode of InheritanceAutosomal Dominant
Gene NameTCIRG1
Chromosomal Location11q13.4-q13.5
Nucleotide AccessionNM_006019.2 (2700 bp)
Protein AccessionNP_006010.2 (830 aa)
Genecards LinkView TCIRG1 gene at Genecards
Uniprot LinkQ13488
KEGG LinkView TCIRG1 gene at KEGG
PDB LinkNA
Entrez Link10312
OMIM Link604592
Mode of InheritanceAutosomal Recessive
Gene NameCLCN7
Chromosomal Location16p13
Nucleotide AccessionNM_001114331.1 (4153 bp)
Protein AccessionNP_001107803.1 (781 aa)
Genecards LinkView CLCN7 gene at Genecards
Uniprot LinkP51798
KEGG LinkView CLCN7 gene at KEGG
PDB LinkNA
Entrez Link1186
OMIM Link602727
Mode of InheritanceAutosomal Recessive
Gene NameDMD
Chromosomal LocationXp21.2
Nucleotide AccessionNM_000109.3 (14069 bp)
Protein AccessionNP_000100.2 (3677 aa)
Genecards LinkView DMD gene at Genecards
Uniprot LinkP11532
KEGG LinkView DMD gene at KEGG
PDB LinkNA
Entrez Link1756
OMIM Link300377
Mode of InheritanceX-linked Recessive
Gene NameCA2
Chromosomal Location8q22
Nucleotide AccessionNM_000067.2 (1666 bp)
Protein AccessionNP_000058.1 (260 aa)
Genecards LinkView CA2 gene at Genecards
Uniprot LinkP00918
KEGG LinkView CA2 gene at KEGG
PDB LinkNA
Entrez Link760
OMIM Link611492
Mode of InheritanceAutosomal Recessive
Gene NameLIM2
Chromosomal Location19q13.4
Nucleotide AccessionNM_001161748.1 (875 bp)
Protein AccessionNP_001155220.1 (173 aa)
Genecards LinkView LIM2 gene at Genecards
Uniprot LinkP55344
KEGG LinkView LIM2 gene at KEGG
PDB LinkNA
Entrez Link3982
OMIM Link154045
Mode of InheritanceAutosomal Recessive
Gene NameGJA8
Chromosomal Location1q21.1
Nucleotide AccessionNM_005267.4 (1377 bp)
Protein AccessionNP_005258.2 (433 aa)
Genecards LinkView GJA8 gene at Genecards
Uniprot LinkP48165
KEGG LinkView GJA8 gene at KEGG
PDB LinkNA
Entrez Link2703
OMIM Link600897
Mode of InheritanceAutosomal Dominant
Gene NameCRYGS
Chromosomal Location3q27
Nucleotide AccessionNM_017541.2 (843 bp)
Protein AccessionNP_060011.1 (178 aa)
Genecards LinkView CRYGS gene at Genecards
Uniprot LinkP22914
KEGG LinkView CRYGS gene at KEGG
PDB LinkNA
Entrez Link1427
OMIM Link123730
Mode of InheritanceAutosomal Dominant
Gene NameCTNS
Chromosomal Location17p13
Nucleotide AccessionNM_001031681.2 (4042 bp)
Protein AccessionNP_001026851.2 (400 aa)
Genecards LinkView CTNS gene at Genecards
Uniprot LinkO60931
KEGG LinkView CTNS gene at KEGG
PDB LinkNA
Entrez Link1497
OMIM Link606272
Mode of InheritanceAutosomal Recessive
Gene NameDMD
Chromosomal LocationXp21.2
Nucleotide AccessionNM_000109.3 (14069 bp)
Protein AccessionNP_000100.2 (3677 aa)
Genecards LinkView DMD gene at Genecards
Uniprot LinkP11532
KEGG LinkView DMD gene at KEGG
PDB LinkNA
Entrez Link1756
OMIM Link300377
Mode of InheritanceX-linked Recessive
Gene NameDKC1
Chromosomal LocationXq28
Nucleotide AccessionNM_001142463.1 (2579 bp)
Protein AccessionNP_001135935.1 (509 aa)
Genecards LinkView DKC1 gene at Genecards
Uniprot LinkO60832
KEGG LinkView DKC1 gene at KEGG
PDB LinkNA
Entrez Link1736
OMIM Link300126
Mode of InheritanceX-linked Recessive
Gene NameITGB3
Chromosomal Location17q21.32
Nucleotide AccessionNM_000212.2 (4894 bp)
Protein AccessionNP_000203.2 (788 aa)
Genecards LinkView ITGB3 gene at Genecards
Uniprot LinkP05106
KEGG LinkView ITGB3 gene at KEGG
PDB LinkNA
Entrez Link3690
OMIM Link173470
Mode of InheritanceAutosomal Recessive
Gene NameITGA2B
Chromosomal Location17q21.31
Nucleotide AccessionNM_000419.3 (3120 bp)
Protein AccessionNP_000410.2 (1039 aa)
Genecards LinkView ITGA2B gene at Genecards
Uniprot LinkP08514
KEGG LinkView ITGA2B gene at KEGG
PDB LinkNA
Entrez Link3674
OMIM Link607759
Mode of InheritanceAutosomal Recessive
Gene NameSLC29A3
Chromosomal Location10q22.1
Nucleotide AccessionNM_001174098.1 (2283 bp)
Protein AccessionNP_001167569.1 (258 aa)
Genecards LinkView SLC29A3 gene at Genecards
Uniprot LinkQ9BZD2
KEGG LinkView SLC29A3 gene at KEGG
PDB LinkNA
Entrez Link55315
OMIM Link612373
Mode of InheritanceAutosomal Recessive
Gene NameCTSC
Chromosomal Location11q14.1-q14.3
Nucleotide AccessionNM_001114173.1 (6099 bp)
Protein AccessionNP_001107645.1 (141 aa)
Genecards LinkView CTSC gene at Genecards
Uniprot LinkQ2HIY8
KEGG LinkView CTSC gene at KEGG
PDB LinkNA
Entrez Link1075
OMIM Link602365
Mode of InheritanceAutosomal Recessive
Gene NameHPS1
Chromosomal Location10q23.1
Nucleotide AccessionNM_000195.2 (3714 bp)
Protein AccessionNP_000186.2 (700 aa)
Genecards LinkView HPS1 gene at Genecards
Uniprot LinkQ92902
KEGG LinkView HPS1 gene at KEGG
PDB LinkNA
Entrez Link3257
OMIM Link604982
Mode of InheritanceAutosomal Recessive
Gene NameSLC19A2
Chromosomal Location1q23.3
Nucleotide AccessionNM_006996.2 (3655 bp)
Protein AccessionNP_008927.1 (497 aa)
Genecards LinkView SLC19A2 gene at Genecards
Uniprot LinkO60779
KEGG LinkView SLC19A2 gene at KEGG
PDB LinkNA
Entrez Link10560
OMIM Link603941
Mode of InheritanceAutosomal Recessive
Gene NameLTBP2
Chromosomal Location14q24
Nucleotide AccessionNM_000428.2 (8568 bp)
Protein AccessionNP_000419.1 (1821 aa)
Genecards LinkView LTBP2 gene at Genecards
Uniprot LinkQ14767
KEGG LinkView LTBP2 gene at KEGG
PDB LinkNA
Entrez Link4053
OMIM Link602091
Mode of InheritanceAutosomal Recessive
Gene NameTYRP1
Chromosomal Location9p23
Nucleotide AccessionNM_000550.2 (2876 bp)
Protein AccessionNP_000541.1 (537 aa)
Genecards LinkView TYRP1 gene at Genecards
Uniprot LinkP17643
KEGG LinkView TYRP1 gene at KEGG
PDB LinkNA
Entrez Link7306
OMIM Link115501
Mode of InheritanceAutosomal Recessive
Gene NameCTSC
Chromosomal Location11q14.1-q14.3
Nucleotide AccessionNM_001114173.1 (6099 bp)
Protein AccessionNP_001107645.1 (141 aa)
Genecards LinkView CTSC gene at Genecards
Uniprot LinkQ2HIY8
KEGG LinkView CTSC gene at KEGG
PDB LinkNA
Entrez Link1075
OMIM Link602365
Mode of InheritanceAutosomal Recessive
Gene NameSTK11
Chromosomal Location19p13.3
Nucleotide AccessionNM_000455.4 (3286 bp)
Protein AccessionNP_000446.1 (433 aa)
Genecards LinkView STK11 gene at Genecards
Uniprot LinkQ15831
KEGG LinkView STK11 gene at KEGG
PDB LinkNA
Entrez Link6794
OMIM Link602216
Mode of InheritanceAutosomal Dominant
Gene NamePBGD
Chromosomal Location11q23.3
Nucleotide AccessionNM_000190.3 (1526 bp)
Protein AccessionNP_000181.2 (361 aa)
Genecards LinkView PBGD gene at Genecards
Uniprot LinkP08397
KEGG LinkView PBGD gene at KEGG
PDB LinkNA
Entrez Link3145
OMIM Link609806
Mode of InheritanceAutosomal Dominant
Gene NamePROC
Chromosomal Location2q13-q14
Nucleotide AccessionNM_000312.3 (1790 bp)
Protein AccessionNP_000303.1 (461 aa)
Genecards LinkView PROC gene at Genecards
Uniprot LinkP04070
KEGG LinkView PROC gene at KEGG
PDB LinkNA
Entrez Link5624
OMIM Link612283
Mode of InheritanceNA
Gene NamePEX7
Chromosomal Location6q22-q24
Nucleotide AccessionNM_000288.3 (1499 bp)
Protein AccessionNP_000279.1 (323 aa)
Genecards LinkView PEX7 gene at Genecards
Uniprot LinkO00628
KEGG LinkView PEX7 gene at KEGG
PDB LinkNA
Entrez Link5191
OMIM Link601757
Mode of InheritanceAutosomal Recessive
Gene NameMECP2
Chromosomal LocationXq28
Nucleotide AccessionNM_001110792.1 (1734 bp)
Protein AccessionNP_001104262.1 (498 aa)
Genecards LinkView MECP2 gene at Genecards
Uniprot LinkP51608
KEGG LinkView MECP2 gene at KEGG
PDB LinkNA
Entrez Link4204
OMIM Link300005
Mode of InheritanceX-linked Dominant
Gene NameASAH1
Chromosomal Location8p22-p21.3
Nucleotide AccessionNM_001127505.1 (2485 bp)
Protein AccessionNP_001120977.1 (389 aa)
Genecards LinkView ASAH1 gene at Genecards
Uniprot LinkQ13510
KEGG LinkView ASAH1 gene at KEGG
PDB LinkNA
Entrez Link427
OMIM Link228000
Mode of InheritanceAutosomal Recessive
Gene NamePLDN
Chromosomal Location15q15
Nucleotide AccessionNM_012388.2 (3959 bp)
Protein AccessionNP_036520.1 (172 aa)
Genecards LinkView PLDN gene at Genecards
Uniprot LinkQ9UL45
KEGG LinkView PLDN gene at KEGG
PDB LinkNA
Entrez Link26258
OMIM Link604310
Mode of InheritanceAutosomal Recessive
Gene NameBTD
Chromosomal Location3p25
Nucleotide AccessionNC_000003 (44482 bp)
Protein AccessionNP_000051 (543 aa)
Genecards LinkView BTD gene at Genecards
Uniprot LinkP43251
KEGG LinkView BTD gene at KEGG
PDB LinkNA
Entrez Link26061
OMIM Link253260
Mode of InheritanceAutosomal Recessive
Gene NameHRAS
Chromosomal Location11p15.5
Nucleotide AccessionNC_000011 (5046 bp)
Protein AccessionNP_001123914 (189 aa)
Genecards LinkView HRAS gene at Genecards
Uniprot LinkP01112
KEGG LinkView HRAS gene at KEGG
PDB Link2CL0,2C5L
Entrez Link3265
OMIM Link218040
Mode of InheritanceAutosomal Dominant
Gene NameDMC
Chromosomal Location18q21.1
Nucleotide AccessionNC_000018 (416908 bp)
Protein AccessionNP_060123 (669 aa)
Genecards LinkView DMC gene at Genecards
Uniprot LinkQ7RTS9
KEGG LinkView DMC gene at KEGG
PDB LinkNA
Entrez Link54808
OMIM Link223800
Mode of InheritanceAutosomal Recessive
Gene NameTACSTD2
Chromosomal Location1p32
Nucleotide AccessionNC_000001 (2072 bp)
Protein AccessionNP_002344 (323 aa)
Genecards LinkView TACSTD2 gene at Genecards
Uniprot LinkP09758
KEGG LinkView TACSTD2 gene at KEGG
PDB LinkNA
Entrez Link4070
OMIM Link137290
Mode of InheritanceAutosomal Recessive
Gene NameTGFB1
Chromosomal Location19q13.2,19q13.1
Nucleotide AccessionNC_000019 (23181 bp)
Protein AccessionNP_000651 (390 aa)
Genecards LinkView TGFB1 gene at Genecards
Uniprot LinkQ4LDM3
KEGG LinkView TGFB1 gene at KEGG
PDB Link3KFD
Entrez Link7040
OMIM Link190180
Mode of InheritanceAutosomal Dominant
Gene NameTGFB1
Chromosomal Location19q13.2,19q13.1
Nucleotide AccessionNC_000019 (23181 bp)
Protein AccessionNP_000651 (390 aa)
Genecards LinkView TGFB1 gene at Genecards
Uniprot LinkQ4LDM3
KEGG LinkView TGFB1 gene at KEGG
PDB Link3KFD
Entrez Link7040
OMIM Link190180
Mode of InheritanceAutosomal Dominant
Gene NameNHS
Chromosomal LocationXp22.3-p21.1
Nucleotide AccessionNA (4425)
Protein AccessionNP_001129496 (1474 aa)
Genecards LinkView NHS gene at Genecards
Uniprot LinkQ6T4R5
KEGG LinkView NHS gene at KEGG
PDB LinkNA
Entrez Link4810
OMIM Link300457
Mode of InheritanceX-linked
Gene NameINS
Chromosomal Location11p15.5
Nucleotide AccessionNA (NA)
Protein AccessionNP_000198 (110 aa)
Genecards LinkView INS gene at Genecards
Uniprot LinkP01308
KEGG LinkView INS gene at KEGG
PDB Link1A7F
Entrez Link3630
OMIM Link176730
Mode of InheritanceNA
Gene NameHNF-1B
Chromosomal Location17q12
Nucleotide AccessionNC_000017 (58804 bp)
Protein AccessionNP_000449 (557 aa)
Genecards LinkView HNF-1B gene at Genecards
Uniprot LinkP35680
KEGG LinkView HNF-1B gene at KEGG
PDB LinkNA
Entrez Link6928
OMIM Link137920
Mode of InheritanceAutosomal Dominant
Gene NameSLC4A1
Chromosomal Location17q21-q22
Nucleotide AccessionNC_000017 (19757 bp)
Protein AccessionNP_000333 (911 aa)
Genecards LinkView SLC4A1 gene at Genecards
Uniprot LinkP02730
KEGG LinkView SLC4A1 gene at KEGG
PDB Link1HYN
Entrez Link6521
OMIM Link179800
Mode of InheritanceAutosomal Dominant
Gene NameSLC4A3
Chromosomal Location9q34
Nucleotide AccessionNC_000009 (5798 bp)
Protein AccessionNP_001170787 (599 aa)
Genecards LinkView SLC4A3 gene at Genecards
Uniprot LinkQ8N130
KEGG LinkView SLC4A3 gene at KEGG
PDB LinkNA
Entrez Link142680
OMIM Link609826
Mode of InheritanceAutosomal Recessive
Gene NamePHEX
Chromosomal LocationXp22.1
Nucleotide AccessionNC_000023 (218869 bp)
Protein AccessionNP_000435 (749 aa)
Genecards LinkView PHEX gene at Genecards
Uniprot LinkP78562
KEGG LinkView PHEX gene at KEGG
PDB LinkNA
Entrez Link5251
OMIM Link307800
Mode of InheritanceX-linked
Gene NameNEMO
Chromosomal Location17q11.2
Nucleotide AccessionNC_000017 (154226 bp)
Protein AccessionNP_057315 (527 aa)
Genecards LinkView NEMO gene at Genecards
Uniprot LinkQ9UBE8
KEGG LinkView NEMO gene at KEGG
PDB LinkNA
Entrez Link51701
OMIM Link609476
Mode of InheritanceX-linked
Gene NameGLANT3
Chromosomal Location2q24-q31
Nucleotide AccessionNG_012069 (53491 bp)
Protein AccessionNP_004473 (633 aa)
Genecards LinkView GLANT3 gene at Genecards
Uniprot LinkQ14435
KEGG LinkView GLANT3 gene at KEGG
PDB LinkNA
Entrez Link2591
OMIM Link601756
Mode of InheritanceAutosomal Recessive
Gene NameWT1
Chromosomal Location11p13
Nucleotide AccessionNC_000011 (47856 bp)
Protein AccessionNP_000369 (497 aa)
Genecards LinkView WT1 gene at Genecards
Uniprot LinkE9PMK7
KEGG LinkView WT1 gene at KEGG
PDB Link2PRT
Entrez Link7490
OMIM Link607102
Mode of InheritanceAutosomal Dominant
Gene NameMYH7
Chromosomal Location14q11.2-q13
Nucleotide AccessionNC_000014 (22981 bp)
Protein AccessionNP_000248 (1935 aa)
Genecards LinkView MYH7 gene at Genecards
Uniprot LinkP12883
KEGG LinkView MYH7 gene at KEGG
PDB Link2FXO 2FXM
Entrez Link4625
OMIM Link192600
Mode of InheritanceAutosomal Dominant
Gene NameVSX1
Chromosomal Location20p11-q11
Nucleotide AccessionNG_008101 (13669 bp)
Protein AccessionNP_055403 (365 aa)
Genecards LinkView VSX1 gene at Genecards
Uniprot LinkQ9NZR4
KEGG LinkView VSX1 gene at KEGG
PDB LinkNA
Entrez Link30813
OMIM Link605020
Mode of InheritanceAutosomal Dominant/Autosomal Recessive
Gene NameMTM1
Chromosomal LocationXq28
Nucleotide AccessionNC_000023 (104749 bp)
Protein AccessionNP_000243 (603 aa)
Genecards LinkView MTM1 gene at Genecards
Uniprot LinkQ13496
KEGG LinkView MTM1 gene at KEGG
PDB LinkNA
Entrez Link4534
OMIM Link300415
Mode of InheritanceX-linked
Gene NameSRY
Chromosomal LocationYp11.3
Nucleotide AccessionNC_000024 (897bp)
Protein AccessionNP_003131 (204 aa)
Genecards LinkView SRY gene at Genecards
Uniprot LinkQ05066
KEGG LinkView SRY gene at KEGG
PDB Link1J46
Entrez Link6736
OMIM Link480000
Mode of InheritanceY-linked
Gene NameDHH
Chromosomal Location12q13.1
Nucleotide AccessionNC_000012 (5399 bp)
Protein AccessionNP_066382 (396 aa)
Genecards LinkView DHH gene at Genecards
Uniprot LinkO43323
KEGG LinkView DHH gene at KEGG
PDB Link2WFQ
Entrez Link50846
OMIM Link605423
Mode of InheritanceX-linked
Gene NameNR5A1
Chromosomal Location9q33
Nucleotide AccessionNC_000009 (26195 bp)
Protein AccessionNP_004950 (461 aa)
Genecards LinkView NR5A1 gene at Genecards
Uniprot LinkQ13285
KEGG LinkView NR5A1 gene at KEGG
PDB Link1ZDT 1YOW
Entrez Link2516
OMIM Link184757
Mode of InheritanceAutosomal Recessive
Gene NameLCA5
Chromosomal Location6q14
Nucleotide AccessionNC_000006 (52468 bp)
Protein AccessionNP_001116241 (697 aa)
Genecards LinkView LCA5 gene at Genecards
Uniprot LinkQ86VQ0
KEGG LinkView LCA5 gene at KEGG
PDB LinkNA
Entrez Link167691
OMIM Link611408
Mode of InheritanceAutosomal Recessive
Gene NameRPE65
Chromosomal Location1p31
Nucleotide AccessionNC_000001 (21138 bp)
Protein AccessionNP_000320 (533 aa)
Genecards LinkView RPE65 gene at Genecards
Uniprot LinkQ16518
KEGG LinkView RPE65 gene at KEGG
PDB LinkNA
Entrez Link6121
OMIM Link204100
Mode of InheritanceAutosomal Recessive
Gene NameLDLR
Chromosomal Location19p13.3
Nucleotide AccessionNM_000527.4 (5292 bp)
Protein AccessionNP_000518.1 (860 aa)
Genecards LinkView LDLR gene at Genecards
Uniprot LinkP0113
KEGG LinkView LDLR gene at KEGG
PDB Link1LDL
Entrez Link3949
OMIM Link606945
Mode of InheritanceAutosomal Dominant
Gene NameMYBPC3
Chromosomal Location11p11
Nucleotide AccessionNM_000256.3 (4217 bp)
Protein AccessionNP_000247.2 (1274 aa)
Genecards LinkView MYBPC3 gene at Genecards
Uniprot LinkQ14896
KEGG LinkView MYBPC3 gene at KEGG
PDB Link3CX2
Entrez Link4607
OMIM Link600958
Mode of InheritanceAutosomal Dominant
Gene NameFMR1
Chromosomal LocationXq27.3
Nucleotide AccessionNM_001185075.1 (4362 bp)
Protein AccessionNP_001172004.1 (537 aa)
Genecards LinkView FMR1 gene at Genecards
Uniprot LinkQ06787
KEGG LinkView FMR1 gene at KEGG
PDB Link2QND
Entrez Link2332
OMIM Link309550
Mode of InheritanceNA
Gene NameBTK
Chromosomal LocationXq21.33-q22
Nucleotide AccessionNC_000023 (36778bp)
Protein AccessionNP_000052 (659aa)
Genecards LinkView BTK gene at Genecards
Uniprot LinkQ06187
KEGG LinkView BTK gene at KEGG
PDB Link3GEN
Entrez Link695
OMIM Link300300
Mode of InheritanceX-linked recessive
Gene NameJAK2
Chromosomal Location9p24
Nucleotide AccessionNC_000009 (143151 bp)
Protein AccessionNP_004963 (1132 aa)
Genecards LinkView JAK2 gene at Genecards
Uniprot LinkO60674
KEGG LinkView JAK2 gene at KEGG
PDB LinkNA
Entrez Link3717
OMIM Link147796
Mode of InheritanceAutosomal Dominant
Gene NameMTMR2
Chromosomal Location11q22
Nucleotide AccessionNC_000011 (92436bp)
Protein AccessionNP_001230500 (571aa)
Genecards LinkView MTMR2 gene at Genecards
Uniprot LinkA6NN98
KEGG LinkView MTMR2 gene at KEGG
PDB Link1ZSQ
Entrez Link8898
OMIM Link603557
Mode of InheritanceAutosomal ressesive
Gene NameKCNJ11
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011 (4084 bp)
Protein AccessionNP_000516 (390 aa)
Genecards LinkView KCNJ11 gene at Genecards
Uniprot LinkB2RC52
KEGG LinkView KCNJ11 gene at KEGG
PDB LinkNA
Entrez Link3767
OMIM Link610582
Mode of InheritanceAutosomal Dominant
Gene NamePANK2
Chromosomal Location20p13
Nucleotide AccessionNC_000020 (38120 bp)
Protein AccessionNP_079236 (279 aa)
Genecards LinkView PANK2 gene at Genecards
Uniprot LinkQ9BZ23
KEGG LinkView PANK2 gene at KEGG
PDB LinkNA
Entrez Link80025
OMIM Link606157
Mode of InheritanceAutosomal Recessive
Gene NameAAAS
Chromosomal Location12q13
Nucleotide AccessionNC_000012 (17409 bp)
Protein AccessionNP_001166937 (513 aa)
Genecards LinkView AAAS gene at Genecards
Uniprot LinkQ5JB47
KEGG LinkView AAAS gene at KEGG
PDB LinkNA
Entrez Link8086
OMIM Link231550
Mode of InheritanceAutosomal Recessive
Gene NameCIAS1
Chromosomal Location1q44
Nucleotide AccessionNC_000001 (32953 bp)
Protein AccessionNP_001073289 (1036 aa)
Genecards LinkView CIAS1 gene at Genecards
Uniprot LinkQ96P20
KEGG LinkView CIAS1 gene at KEGG
PDB Link3QF2
Entrez Link114548
OMIM Link607115
Mode of InheritanceAutosomal Dominant
Gene NameBSCL2
Chromosomal Location11q13
Nucleotide AccessionNC_000011 (19571 bp)
Protein AccessionNP_001116427 (462 aa)
Genecards LinkView BSCL2 gene at Genecards
Uniprot LinkG3XAE4
KEGG LinkView BSCL2 gene at KEGG
PDB LinkNA
Entrez Link26580
OMIM Link606158
Mode of InheritanceAutosomal Resessive
Gene NameUGT1A1
Chromosomal Location2q37
Nucleotide AccessionNC_000002 (13052bp)
Protein AccessionNP_000454 (533aa)
Genecards LinkView UGT1A1 gene at Genecards
Uniprot LinkP22309
KEGG LinkView UGT1A1 gene at KEGG
PDB LinkNA
Entrez Link54658
OMIM Link191740
Mode of InheritanceAutosomal Resessive
Gene NameFGB
Chromosomal Location4q28
Nucleotide AccessionNC_000004 (9808 bp)
Protein AccessionNP_001171670 (432 aa)
Genecards LinkView FGB gene at Genecards
Uniprot LinkP02675
KEGG LinkView FGB gene at KEGG
PDB LinkNA
Entrez Link2244
OMIM Link134830
Mode of InheritanceAutosomal Recessive
Gene NameNA
Chromosomal Location4q31.3
Nucleotide AccessionNA (NA)
Protein AccessionNA (NA)
Genecards LinkView NA gene at Genecards
Uniprot LinkNA
KEGG LinkView NA gene at KEGG
PDB LinkNA
Entrez LinkNA
OMIM Link607258
Mode of InheritanceNA
Gene NameAR
Chromosomal LocationXq12
Nucleotide AccessionNC_000023 (186588 bp)
Protein AccessionNP_000035 (920 aa)
Genecards LinkView AR gene at Genecards
Uniprot LinkP10275
KEGG LinkView AR gene at KEGG
PDB LinkNA
Entrez Link367
OMIM Link300068
Mode of InheritanceX-Linked recessive
Gene NameG6PC
Chromosomal Location17q21
Nucleotide AccessionNC_000017 (12572 bp)
Protein AccessionNP_000142 (357 aa)
Genecards LinkView G6PC gene at Genecards
Uniprot LinkP35575
KEGG LinkView G6PC gene at KEGG
PDB LinkNA
Entrez Link2538
OMIM Link613742
Mode of InheritanceAutosomal Recessive
Gene NameGNE
Chromosomal Location9p13.1
Nucleotide AccessionNC_000009 (62676 bp)
Protein AccessionNP_001121699 (753 aa)
Genecards LinkView GNE gene at Genecards
Uniprot LinkQ9Y223
KEGG LinkView GNE gene at KEGG
PDB Link2YHW
Entrez Link10020
OMIM Link603824
Mode of InheritanceAutosomal Ressesive
Gene NameRPE65
Chromosomal Location1p31
Nucleotide AccessionNC_000001 (21138 bp)
Protein AccessionNP_000320 (533 aa)
Genecards LinkView RPE65 gene at Genecards
Uniprot LinkQ16518
KEGG LinkView RPE65 gene at KEGG
PDB LinkNA
Entrez Link6121
OMIM Link180069
Mode of InheritanceAutosomal Recessive
Gene NameCHST6
Chromosomal Location16q22
Nucleotide AccessionNM_021615.4 (6885 bp)
Protein AccessionNP_067628 (395 aa)
Genecards LinkView CHST6 gene at Genecards
Uniprot LinkQ9GZX3
KEGG LinkView CHST6 gene at KEGG
PDB LinkNA
Entrez Link4166
OMIM Link605294
Mode of InheritanceAutosomal Ressesive
Gene NameEDA
Chromosomal LocationXq13.1
Nucleotide AccessionNC_000023.10 (155270560 bp)
Protein Accession391aa (NP_001390)
Genecards LinkView EDA gene at Genecards
Uniprot LinkQ92838
KEGG LinkView EDA gene at KEGG
PDB Link1RJ7
Entrez Link1896
OMIM Link300451
Mode of InheritanceX-linked Recessive
Gene NameEDAR
Chromosomal Location2q13
Nucleotide AccessionNC_000002 (94902bp)
Protein AccessionNP_071731 (448aa)
Genecards LinkView EDAR gene at Genecards
Uniprot LinkQ9UNE0
KEGG LinkView EDAR gene at KEGG
PDB LinkNA
Entrez Link10913
OMIM Link224900
Mode of InheritanceAutosomal Recessive
Gene NameRYR2
Chromosomal Location1q43
Nucleotide AccessionNM_001035.2 (16365 bp)
Protein AccessionNP_001026 (4967 aa)
Genecards LinkView RYR2 gene at Genecards
Uniprot LinkQ92736
KEGG LinkView RYR2 gene at KEGG
PDB LinkNA
Entrez Link6262
OMIM Link180902
Mode of InheritanceAutosomal Dominant
Gene NamePKP2
Chromosomal Location12p11.21
Nucleotide AccessionNC_000012 (106102 bp)
Protein AccessionNP_004563 (881 aa)
Genecards LinkView PKP2 gene at Genecards
Uniprot LinkQ99959
KEGG LinkView PKP2 gene at KEGG
PDB LinkNA
Entrez Link5318
OMIM Link602861
Mode of InheritanceAutosomal Dominant
Gene NameNOTCH3
Chromosomal Location19p13.12
Nucleotide AccessionNC_018930 (41349 bp)
Protein AccessionNP_000426 (2321 aa)
Genecards LinkView NOTCH3 gene at Genecards
Uniprot LinkQ9UM47
KEGG LinkView NOTCH3 gene at KEGG
PDB LinkNA
Entrez Link4854
OMIM Link600276
Mode of InheritanceAutosomal Dominant
Gene NameCASR
Chromosomal Location3q21.1
Nucleotide AccessionNC_000003 (102815 bp)
Protein AccessionNP_001171536 (1088 aa)
Genecards LinkView CASR gene at Genecards
Uniprot LinkP41180
KEGG LinkView CASR gene at KEGG
PDB LinkNA
Entrez Link846
OMIM Link601199
Mode of InheritanceAutosomal Dominant
Gene NameCFTR
Chromosomal Location7q31.2
Nucleotide AccessionNC_000007 (202882 bp)
Protein AccessionNP_000483 (1480 aa)
Genecards LinkView CFTR gene at Genecards
Uniprot LinkP13569
KEGG LinkView CFTR gene at KEGG
PDB LinkNA
Entrez Link1080
OMIM Link602421
Mode of InheritanceNA
Gene NameCTRC
Chromosomal Location1p36.21
Nucleotide AccessionNC_000001 (10803 bp)
Protein AccessionNP_009203 (268 aa)
Genecards LinkView CTRC gene at Genecards
Uniprot LinkQ99895
KEGG LinkView CTRC gene at KEGG
PDB LinkNA
Entrez Link11330
OMIM Link601405
Mode of InheritanceNA
Gene NameSPINK1
Chromosomal Location5q32
Nucleotide AccessionNC_000005 (7219 bp)
Protein AccessionNP_003113 (79 aa)
Genecards LinkView SPINK1 gene at Genecards
Uniprot LinkP00995
KEGG LinkView SPINK1 gene at KEGG
PDB LinkNA
Entrez Link6690
OMIM Link167790
Mode of InheritanceNA
Gene NameUROS
Chromosomal Location10q26.1-q26.2
Nucleotide AccessionNC_000010.10 (34692 bp)
Protein AccessionXP_005270196 (262 aa)
Genecards LinkView UROS gene at Genecards
Uniprot LinkP10746
KEGG LinkView UROS gene at KEGG
PDB Link1JR2
Entrez Link7390
OMIM Link606938
Mode of InheritanceAutosomal Recessive
Gene NameTSHB
Chromosomal Location1p13.2
Nucleotide AccessionNM_000549 (537 bp)
Protein AccessionNP_000540 (138 aa)
Genecards LinkView TSHB gene at Genecards
Uniprot LinkP01222
KEGG LinkView TSHB gene at KEGG
PDB LinkNA
Entrez Link7252
OMIM Link188540
Mode of InheritanceAutosomal Recessive
Gene NameDSP
Chromosomal Location6p24.3
Nucleotide AccessionNC_000006 (45143 bp)
Protein AccessionNP_004406 (2871 aa)
Genecards LinkView DSP gene at Genecards
Uniprot LinkP15924
KEGG LinkView DSP gene at KEGG
PDB LinkNA
Entrez Link1832
OMIM Link125647
Mode of InheritanceAutosomal Recessive
Gene NameF5
Chromosomal Location1q23
Nucleotide AccessionNC_000001 (74635 bp)
Protein AccessionNP_000121 (2224 aa)
Genecards LinkView F5 gene at Genecards
Uniprot LinkP12259
KEGG LinkView F5 gene at KEGG
PDB LinkNA
Entrez Link2153
OMIM Link612309
Mode of InheritanceAutosomal Recessive
Gene NamePORCN
Chromosomal LocationXp11.23
Nucleotide AccessionNM_022825 (1873 bp)
Protein AccessionNP_073736 (450 aa)
Genecards LinkView PORCN gene at Genecards
Uniprot LinkQ9H237
KEGG LinkView PORCN gene at KEGG
PDB LinkNA
Entrez Link64840
OMIM Link300651
Mode of InheritanceX-linked Dominant
Gene NameUGT1A1
Chromosomal Location2q37.1
Nucleotide AccessionNG_033238.1 (13052 bp)
Protein AccessionNP_000454.1 (533 aa)
Genecards LinkView UGT1A1 gene at Genecards
Uniprot LinkP22309
KEGG LinkView UGT1A1 gene at KEGG
PDB LinkNA
Entrez Link54658
OMIM Link191740
Mode of InheritanceAutosomal Dominant/Autosomal Recessive
Gene NameGH1
Chromosomal Location17q23.3
Nucleotide AccessionNC_000017 (1639 bp)
Protein AccessionNP_000506 (217 aa)
Genecards LinkView GH1 gene at Genecards
Uniprot LinkP01241
KEGG LinkView GH1 gene at KEGG
PDB LinkNA
Entrez Link2688
OMIM Link139250
Mode of InheritanceAutosomal Recessive
Gene NameGHRHR
Chromosomal Location7p14.3
Nucleotide AccessionNM_000823.3 (1607 bp)
Protein AccessionNP_000814.2 (423 aa)
Genecards LinkView GHRHR gene at Genecards
Uniprot LinkQ02643
KEGG LinkView GHRHR gene at KEGG
PDB Link2XDG
Entrez Link2692
OMIM Link139191
Mode of InheritanceAutosomal Recessive
Gene NameMt-ND1
Chromosomal LocationMT:3307..4262
Nucleotide AccessionNC_012920.1 (956 bp)
Protein AccessionYP_003024026 (318 aa)
Genecards LinkView Mt-ND1 gene at Genecards
Uniprot LinkP03886
KEGG LinkView Mt-ND1 gene at KEGG
PDB Link5XTC
Entrez Link4535
OMIM Link516000
Mode of InheritanceMitochondrial
Gene NameMt-ND4
Chromosomal LocationMT:10760..12137
Nucleotide AccessionNC_012920.1 (1378 bp)
Protein AccessionYP_003024035 (459 aa)
Genecards LinkView Mt-ND4 gene at Genecards
Uniprot LinkP03905
KEGG LinkView Mt-ND4 gene at KEGG
PDB Link5XTD
Entrez Link4538
OMIM Link516003
Mode of InheritanceMitochondrial
Gene NameMT-ATP6
Chromosomal LocationMT:8527..9207
Nucleotide AccessionNC_012920.1 (681 bp)
Protein AccessionYP_003024031 (226 aa )
Genecards LinkView MT-ATP6 gene at Genecards
Uniprot LinkP00846
KEGG LinkView MT-ATP6 gene at KEGG
PDB LinkNA
Entrez Link4508
OMIM Link516060
Mode of InheritanceMitochondrial
Gene NameMT-CO1
Chromosomal LocationMT:5904..7445
Nucleotide AccessionNC_012920.1 (1542 bp)
Protein Accession YP_003024028 (513 aa)
Genecards LinkView MT-CO1 gene at Genecards
Uniprot LinkP00395
KEGG LinkView MT-CO1 gene at KEGG
PDB Link5Z62
Entrez Link4512
OMIM Link516030
Mode of InheritanceMitochondrial
Gene NameMT-CO3
Chromosomal LocationMT:9207..9990
Nucleotide AccessionNC_012920.1 (784 bp)
Protein Accession YP_003024032 (261 aa)
Genecards LinkView MT-CO3 gene at Genecards
Uniprot LinkP00414
KEGG LinkView MT-CO3 gene at KEGG
PDB Link5Z62
Entrez Link4514
OMIM Link516050
Mode of InheritanceMitochondrial
Gene NameMT-CYB
Chromosomal LocationMT:14747..15887
Nucleotide AccessionNC_012920.1 (1141 bp)
Protein AccessionYP_003024038 (380 aa)
Genecards LinkView MT-CYB gene at Genecards
Uniprot Link P00156
KEGG LinkView MT-CYB gene at KEGG
PDB Link5XTE
Entrez Link4519
OMIM Link516020
Mode of InheritanceMitochondrial
Gene NameMT-ND1
Chromosomal LocationMT:3307..4262
Nucleotide AccessionNC_012920.1 (956 bp )
Protein AccessionYP_003024026 (318 aa)
Genecards LinkView MT-ND1 gene at Genecards
Uniprot LinkP03886
KEGG LinkView MT-ND1 gene at KEGG
PDB Link5XTC
Entrez Link4535
OMIM Link516000
Mode of InheritanceMitochondrial
Gene NameMT-ND2
Chromosomal LocationMT:4470..5511
Nucleotide AccessionNC_012920.1 (1042 bp)
Protein AccessionYP_003024027 (347 aa)
Genecards LinkView MT-ND2 gene at Genecards
Uniprot LinkP03891
KEGG LinkView MT-ND2 gene at KEGG
PDB Link5XTC
Entrez Link4536
OMIM Link516001
Mode of InheritanceMitochondrial
Gene NameMT-ND4
Chromosomal LocationMT:10760..12137
Nucleotide AccessionNC_012920.1 (1378 bp)
Protein AccessionYP_003024035 (459 aa)
Genecards LinkView MT-ND4 gene at Genecards
Uniprot LinkP03905
KEGG LinkView MT-ND4 gene at KEGG
PDB Link5XTD
Entrez Link4538
OMIM Link516003
Mode of InheritanceMitochondrial
Gene NameMT-ND5
Chromosomal LocationMT:12337..14148
Nucleotide AccessionNC_012920.1 (1812 bp)
Protein AccessionYP_003024036 (603 aa)
Genecards LinkView MT-ND5 gene at Genecards
Uniprot LinkP03915
KEGG LinkView MT-ND5 gene at KEGG
PDB Link5XTC
Entrez Link4540
OMIM Link516005
Mode of InheritanceMitochondrial
Gene NameMT-ATP8
Chromosomal LocationMT:8366..8572
Nucleotide AccessionNC_012920.1 (207 bp)
Protein AccessionYP_003024030 (68 aa)
Genecards LinkView MT-ATP8 gene at Genecards
Uniprot LinkP03928
KEGG LinkView MT-ATP8 gene at KEGG
PDB LinkNA
Entrez Link4509
OMIM Link516070
Mode of InheritanceMitochondrial
Gene NameMT-ATP6
Chromosomal LocationMT:8527..9207
Nucleotide AccessionNC_012920.1 (681 bp)
Protein AccessionYP_003024031 (226 aa )
Genecards LinkView MT-ATP6 gene at Genecards
Uniprot LinkP00846
KEGG LinkView MT-ATP6 gene at KEGG
PDB LinkNA
Entrez Link4508
OMIM Link516060
Mode of InheritanceMitochondrial
Gene NameMT-ND1
Chromosomal LocationMT:3307..4262
Nucleotide AccessionNC_012920.1 (956 bp )
Protein AccessionYP_003024026 (318 aa)
Genecards LinkView MT-ND1 gene at Genecards
Uniprot LinkP03886
KEGG LinkView MT-ND1 gene at KEGG
PDB Link5XTC
Entrez Link4535
OMIM Link516000
Mode of InheritanceMitochondrial
Gene NameMT-ND4
Chromosomal LocationMT:10760..12137
Nucleotide AccessionNC_012920.1 ( 1378 bp)
Protein AccessionYP_003024035 (459 aa)
Genecards LinkView MT-ND4 gene at Genecards
Uniprot LinkP03905
KEGG LinkView MT-ND4 gene at KEGG
PDB Link5XTD
Entrez Link4538
OMIM Link516003
Mode of InheritanceMitochondrial
Gene NameMT-ND5
Chromosomal LocationMT:12337..14148
Nucleotide AccessionNC_012920.1 (1812 bp)
Protein AccessionYP_003024036 (603 aa)
Genecards LinkView MT-ND5 gene at Genecards
Uniprot LinkP03915
KEGG LinkView MT-ND5 gene at KEGG
PDB Link5XTC
Entrez Link4540
OMIM Link516005
Mode of InheritanceMitochondrial
Gene NameMT-ATP8
Chromosomal LocationMT:8366..8572
Nucleotide AccessionNC_012920.1 (207 bp)
Protein AccessionYP_003024030 (68 aa)
Genecards LinkView MT-ATP8 gene at Genecards
Uniprot LinkP03928
KEGG LinkView MT-ATP8 gene at KEGG
PDB LinkNA
Entrez Link4509
OMIM Link516070
Mode of InheritanceMitochondrial
Gene NameMT-RNR1
Chromosomal LocationMT:648..1601
Nucleotide AccessionNC_012920.1 ( 954 bp)
Protein AccessionNA (NA)
Genecards LinkView MT-RNR1 gene at Genecards
Uniprot LinkNA
KEGG LinkView MT-RNR1 gene at KEGG
PDB LinkNA
Entrez Link4549
OMIM Link561000
Mode of InheritanceMitochondrial
Gene NameMT-ND1
Chromosomal Location MT:3307..4262
Nucleotide AccessionNC_012920.1 (956 bp )
Protein AccessionYP_003024026 (318 aa)
Genecards LinkView MT-ND1 gene at Genecards
Uniprot LinkP03886
KEGG LinkView MT-ND1 gene at KEGG
PDB Link5XTC
Entrez Link4535
OMIM Link516000
Mode of InheritanceMitochondrial
Gene NameMT-ND2
Chromosomal LocationMT:4470..5511
Nucleotide AccessionNC_012920.1 (1042 bp)
Protein AccessionYP_003024027 (347 aa)
Genecards LinkView MT-ND2 gene at Genecards
Uniprot LinkP03891
KEGG LinkView MT-ND2 gene at KEGG
PDB Link5XTC
Entrez Link4536
OMIM Link516001
Mode of InheritanceMitochondrial
Gene NameMT-ND3
Chromosomal LocationMT:10059..10404
Nucleotide AccessionNC_012920.1 (346 bp)
Protein AccessionYP_003024033 (115 aa)
Genecards LinkView MT-ND3 gene at Genecards
Uniprot Link P03897
KEGG LinkView MT-ND3 gene at KEGG
PDB Link5XTC
Entrez Link4537
OMIM Link516002
Mode of InheritanceMitochondrial
Gene NameMT-ND4
Chromosomal LocationMT:10760..12137
Nucleotide AccessionNC_012920.1 (1378 bp)
Protein AccessionYP_003024035 (459 aa)
Genecards LinkView MT-ND4 gene at Genecards
Uniprot LinkP03905
KEGG LinkView MT-ND4 gene at KEGG
PDB Link5XTD
Entrez Link4538
OMIM Link516003
Mode of InheritanceMitochondrial
Gene NameMT-ND5
Chromosomal LocationMT:12337..14148
Nucleotide AccessionNC_012920.1 (1812 bp)
Protein AccessionYP_003024036 (603 aa)
Genecards LinkView MT-ND5 gene at Genecards
Uniprot LinkP03915
KEGG LinkView MT-ND5 gene at KEGG
PDB Link5XTC
Entrez Link4540
OMIM Link516005
Mode of InheritanceMitochondrial
Gene NameMT-COIII
Chromosomal LocationMT:9207..9990
Nucleotide AccessionNC_012920.1 (784 bp)
Protein Accession YP_003024032 (261 aa)
Genecards LinkView MT-COIII gene at Genecards
Uniprot LinkP00414
KEGG LinkView MT-COIII gene at KEGG
PDB Link5Z62
Entrez Link4514
OMIM Link516050
Mode of InheritanceMitochondrial
Gene NameMT-ATPase6
Chromosomal LocationMT:8527..9207
Nucleotide AccessionNC_012920.1 (681 bp)
Protein AccessionYP_003024031 (226 aa )
Genecards LinkView MT-ATPase6 gene at Genecards
Uniprot LinkP00846
KEGG LinkView MT-ATPase6 gene at KEGG
PDB LinkNA
Entrez Link4508
OMIM Link516060
Mode of InheritanceMitochondrial
Gene NameMT-CYB
Chromosomal LocationMT:14747..15887
Nucleotide AccessionNC_012920.1 (1141 bp)
Protein AccessionYP_003024038 (380 aa)
Genecards LinkView MT-CYB gene at Genecards
Uniprot Link P00156
KEGG LinkView MT-CYB gene at KEGG
PDB Link5XTE
Entrez Link4519
OMIM Link516020
Mode of InheritanceMitochondrial
Gene NameMT-ND-1
Chromosomal LocationNA
Nucleotide AccessionNA (NA)
Protein AccessionNA (NA)
Genecards LinkView MT-ND-1 gene at Genecards
Uniprot LinkNA
KEGG LinkView MT-ND-1 gene at KEGG
PDB LinkNA
Entrez LinkNA
OMIM LinkNA
Mode of InheritanceNA
Gene NameMT-tRNA
Chromosomal LocationNA
Nucleotide AccessionNA (NA)
Protein AccessionNA (NA)
Genecards LinkView MT-tRNA gene at Genecards
Uniprot LinkNA
KEGG LinkView MT-tRNA gene at KEGG
PDB LinkNA
Entrez LinkNA
OMIM LinkNA
Mode of InheritanceNA
Gene NameMT-rRNA
Chromosomal LocationNA
Nucleotide AccessionNA (NA)
Protein AccessionNA (NA)
Genecards LinkView MT-rRNA gene at Genecards
Uniprot LinkNA
KEGG LinkView MT-rRNA gene at KEGG
PDB LinkNA
Entrez LinkNA
OMIM LinkNA
Mode of InheritanceNA
Gene NameMT-ND1
Chromosomal LocationMT:3307..4262
Nucleotide AccessionNC_012920.1 (956 bp )
Protein AccessionYP_003024026 (318 aa)
Genecards LinkView MT-ND1 gene at Genecards
Uniprot LinkP03886
KEGG LinkView MT-ND1 gene at KEGG
PDB Link5XTC
Entrez Link4535
OMIM Link516000
Mode of InheritanceMitochondrial
Gene NameMT-ND4
Chromosomal LocationMT:10760..12137
Nucleotide AccessionNC_012920.1 (1378 bp)
Protein AccessionYP_003024035 (459 aa)
Genecards LinkView MT-ND4 gene at Genecards
Uniprot LinkP03905
KEGG LinkView MT-ND4 gene at KEGG
PDB Link5XTD
Entrez Link4538
OMIM Link516003
Mode of InheritanceMitochondrial
Gene NameMT-ND6
Chromosomal LocationMT:complement(14149..14673)
Nucleotide AccessionNC_012920.1 (525 bp)
Protein AccessionYP_003024037 (174 aa)
Genecards LinkView MT-ND6 gene at Genecards
Uniprot LinkP03923
KEGG LinkView MT-ND6 gene at KEGG
PDB Link5XTC
Entrez Link4541
OMIM Link516006
Mode of InheritanceMitochondrial
Gene NameACADS
Chromosomal Location12q24.31
Nucleotide AccessionNC_000012.12 (1239 nt)
Protein AccessionNP_000008 (412 aa)
Genecards LinkView ACADS gene at Genecards
Uniprot LinkP16219
KEGG LinkView ACADS gene at KEGG
PDB Link2VIG
Entrez Link35
OMIM Link606885
Mode of InheritanceAutosomal Recessive
Gene NameADCY5
Chromosomal Location3q21.1
Nucleotide AccessionNC__000003.12 (3786 nt)
Protein AccessionNP_899200 ( 1261 aa)
Genecards LinkView ADCY5 gene at Genecards
Uniprot LinkO95622
KEGG LinkView ADCY5 gene at KEGG
PDB LinkNA
Entrez Link111
OMIM Link600293
Mode of InheritanceAutosomal Dominant
Gene NameNR0B1
Chromosomal LocationXp21.2
Nucleotide AccessionNC_000023 (1413 nt)
Protein Accession NP_000466 (470 aa)
Genecards LinkView NR0B1 gene at Genecards
Uniprot LinkP51843
KEGG LinkView NR0B1 gene at KEGG
PDB Link4RWV
Entrez Link190
OMIM Link300473
Mode of InheritanceX Linked Recessive
Gene NameJAG1
Chromosomal Location20p12.2
Nucleotide AccessionNM_000214 ( 5940 bp )
Protein AccessionNP_000205.1 ( 1218 aa )
Genecards LinkView JAG1 gene at Genecards
Uniprot LinkP78504
KEGG LinkView JAG1 gene at KEGG
PDB Link4CC0 ,4CBZ ,2VJ2 , 4CC1
Entrez Link182
OMIM Link601920
Mode of InheritanceAutosomal Dominant
Gene NameHGD
Chromosomal Location3q13.33
Nucleotide AccessionNC_000003.12 (1338 nt)
Protein Accession NP_000178 (445 aa)
Genecards LinkView HGD gene at Genecards
Uniprot LinkQ93099
KEGG LinkView HGD gene at KEGG
PDB Link1EYB
Entrez Link3081
OMIM Link607474
Mode of InheritanceAutosomal Recessive
Gene NameVDR
Chromosomal Location12q13.11
Nucleotide AccessionNC_000012 (1284 nt )
Protein Accession NP_000367 (427 aa)
Genecards LinkView VDR gene at Genecards
Uniprot Link P11473
KEGG LinkView VDR gene at KEGG
PDB Link 5YT2
Entrez Link 7421
OMIM Link601769
Mode of InheritanceAutosomal Dominant
Gene NameATRX
Chromosomal LocationXq21.1
Nucleotide AccessionNC_000023.11 (7479 nt)
Protein Accession NP_000480 (2492 aa )
Genecards LinkView ATRX gene at Genecards
Uniprot LinkP46100
KEGG LinkView ATRX gene at KEGG
PDB Link2JM1
Entrez Link546
OMIM Link300032
Mode of InheritanceX-Linked Dominant
Gene NameCOL4A3
Chromosomal Location2q36.3
Nucleotide AccessionNC_000002.12 (5013 nt)
Protein AccessionNP_000082 (1670 aa)
Genecards LinkView COL4A3 gene at Genecards
Uniprot LinkQ01955
KEGG LinkView COL4A3 gene at KEGG
PDB Link5NB0
Entrez Link1285
OMIM Link120070
Mode of InheritanceAutosomal Dominant
Gene NamePSEN1
Chromosomal Location14q24.2
Nucleotide AccessionNC_000014.9 (1404nt)
Protein AccessionNP_000012 (467 aa)
Genecards LinkView PSEN1 gene at Genecards
Uniprot LinkP49748
KEGG LinkView PSEN1 gene at KEGG
PDB Link2KR6
Entrez Link5663
OMIM Link607822
Mode of InheritanceAutosomal Dominant
Gene NamePTEN
Chromosomal Location10 q23.31
Nucleotide AccessionNC_000010.11 (1212 nt)
Protein AccessionNP_000305 (403 aa)
Genecards LinkView PTEN gene at Genecards
Uniprot LinkP60484
KEGG LinkView PTEN gene at KEGG
PDB Link1D5R
Entrez Link5728
OMIM Link601728
Mode of InheritanceAutosomal Dominant
Gene NameGBE1
Chromosomal Location3p12.2
Nucleotide AccessionNC_000003.12 ( 2109 nt )
Protein AccessionNC_000003.12 (702 aa)
Genecards LinkView GBE1 gene at Genecards
Uniprot LinkQ04446
KEGG LinkView GBE1 gene at KEGG
PDB Link4BZY
Entrez Link2632
OMIM Link607839
Mode of InheritanceAutosomal Recessive
Gene NameAR
Chromosomal LocationXq12
Nucleotide AccessionNC_000023 (2763 nt)
Protein Accession NP_000035 (920 aa)
Genecards LinkView AR gene at Genecards
Uniprot LinkP10275
KEGG LinkView AR gene at KEGG
PDB Link1E3G
Entrez Link367
OMIM Link313700
Mode of InheritanceX-linked recessive
Gene NameALAS2
Chromosomal LocationXp11.21
Nucleotide AccessionNC_000023 (1764 nt)
Protein AccessionNP_000023 (587 aa)
Genecards LinkView ALAS2 gene at Genecards
Uniprot LinkP22557
KEGG LinkView ALAS2 gene at KEGG
PDB Link5QQQ
Entrez Link212
OMIM Link301300
Mode of InheritanceX-Linked Recessive
Gene NameTRIM36
Chromosomal Location5q22.3
Nucleotide AccessionNC_000005.10 (2187 nt)
Protein AccessionNP_061170 (728 aa)
Genecards LinkView TRIM36 gene at Genecards
Uniprot LinkQ9NQ86
KEGG LinkView TRIM36 gene at KEGG
PDB LinkNA
Entrez Link55521
OMIM Link609317
Mode of InheritanceAutosomal Recessive
Gene NameUBE3A
Chromosomal Location15q11.2
Nucleotide AccessionNC_000015.10 (2628 nt)
Protein Accession NP_000453 (875 aa)
Genecards LinkView UBE3A gene at Genecards
Uniprot LinkQ05086
KEGG LinkView UBE3A gene at KEGG
PDB Link1C4Z
Entrez Link7337
OMIM Link 601623
Mode of InheritanceAutosomal Dominant
Gene NameSOX2
Chromosomal Location3q26.33
Nucleotide AccessionNC_000003.12 ( 954 nt)
Protein Accession NP_003097 (317 aa)
Genecards LinkView SOX2 gene at Genecards
Uniprot LinkP48431
KEGG LinkView SOX2 gene at KEGG
PDB Link1O4X
Entrez Link 6657
OMIM Link184429
Mode of InheritanceAutosomal Dominant
Gene NameOTX2
Chromosomal Location14q22.3
Nucleotide AccessionNC_000014.9 ( 870 nt)
Protein AccessionNP_001257452 (289 aa)
Genecards LinkView OTX2 gene at Genecards
Uniprot Link P32243
KEGG LinkView OTX2 gene at KEGG
PDB LinkNA
Entrez Link5015
OMIM Link600037
Mode of InheritanceAutosomal Dominant
Gene NameTENM3
Chromosomal Location4q34.3-q35.1
Nucleotide AccessionNC_000004.12 ( 8100 nt)
Protein Accession NP_001073946 (2699 aa)
Genecards LinkView TENM3 gene at Genecards
Uniprot LinkQ9P273
KEGG LinkView TENM3 gene at KEGG
PDB LinkNA
Entrez Link 55714
OMIM Link610083
Mode of InheritanceAutosomal Recessive
Gene NameSERPINC1
Chromosomal Location1q25.1
Nucleotide AccessionNC_000001.11 (1395 nt)
Protein Accession NP_000479 (464 aa)
Genecards LinkView SERPINC1 gene at Genecards
Uniprot LinkP01008
KEGG LinkView SERPINC1 gene at KEGG
PDB Link1TB6
Entrez Link462
OMIM Link107300
Mode of InheritanceAutosomal Dominant
Gene NameFGFR2
Chromosomal Location 10q26.13
Nucleotide AccessionNC_000010.11 (2466 nt)
Protein Accession NP_000132 (821 aa)
Genecards LinkView FGFR2 gene at Genecards
Uniprot LinkP21802
KEGG LinkView FGFR2 gene at KEGG
PDB Link1ev2
Entrez Link 2263
OMIM Link176943
Mode of InheritanceAutosomal Dominant
Gene NameDSP
Chromosomal Location6p24.3
Nucleotide AccessionNC_000006.12 (8616 nt )
Protein AccessionNP_004406 (2871 aa)
Genecards LinkView DSP gene at Genecards
Uniprot LinkP15924
KEGG LinkView DSP gene at KEGG
PDB Link1LM5
Entrez Link1832
OMIM Link125647
Mode of InheritanceAutosomal Dominant
Gene NameERGIC1
Chromosomal Location5q35.1
Nucleotide AccessionNC_000005.10 (837 nt)
Protein Accession NP_001026881 (290 aa)
Genecards LinkView ERGIC1 gene at Genecards
Uniprot LinkQ969X5
KEGG LinkView ERGIC1 gene at KEGG
PDB LinkNA
Entrez Link57222
OMIM Link617946
Mode of InheritanceAutosomal Recessive
Gene NameECEL1
Chromosomal Location2q37.1
Nucleotide AccessionNC_000002.12 (2328 nt)
Protein AccessionNP_004817 (775 aa)
Genecards LinkView ECEL1 gene at Genecards
Uniprot LinkQ95672
KEGG LinkView ECEL1 gene at KEGG
PDB LinkNA
Entrez Link9427
OMIM Link605896
Mode of InheritanceAutosomal Recessive
Gene NameATM
Chromosomal Location11q22.3
Nucleotide AccessionNC_000011.10 (9171 nt)
Protein AccessionNP_000042 (3056 aa)
Genecards LinkView ATM gene at Genecards
Uniprot LinkQ13315
KEGG LinkView ATM gene at KEGG
PDB Link5NP0
Entrez Link 472
OMIM Link607585
Mode of InheritanceAutosomal Recessive
Gene NameARL6
Chromosomal Location3q11.2
Nucleotide AccessionNC_000003.12 (561 nt)
Protein AccessionNP_001265222 (186 aa)
Genecards LinkView ARL6 gene at Genecards
Uniprot LinkQ9H057
KEGG LinkView ARL6 gene at KEGG
PDB Link2H57
Entrez Link84100
OMIM Link608845
Mode of InheritanceAutosomal Recessive
Gene NameBBS5
Chromosomal Location2q31.1
Nucleotide AccessionNC_000002.12 (1026 nt)
Protein AccessionNP_689596 (341 aa)
Genecards LinkView BBS5 gene at Genecards
Uniprot LinkQ8N317
KEGG LinkView BBS5 gene at KEGG
PDB LinkNA
Entrez Link129880
OMIM Link603650
Mode of Inheritanceautosomal recesive
Gene NameBBS10
Chromosomal Location12q21.2
Nucleotide AccessionNC_000012.12 (2127 nt )
Protein AccessionNP_078961 (723 aa)
Genecards LinkView BBS10 gene at Genecards
Uniprot LinkQ8TAM1
KEGG LinkView BBS10 gene at KEGG
PDB LinkNA
Entrez Link79738
OMIM Link61048
Mode of InheritanceAutosomal Recessive
Gene NameKCNJ1
Chromosomal Location11q24.3
Nucleotide AccessionNC_000011.10 (1176 nt)
Protein Accession NP_000211 (391 aa)
Genecards LinkView KCNJ1 gene at Genecards
Uniprot LinkP48048
KEGG LinkView KCNJ1 gene at KEGG
PDB LinkNA
Entrez Link3758
OMIM Link600359
Mode of InheritanceAutosomal Recessive
Gene NameBEST1
Chromosomal Location11q12.3
Nucleotide AccessionNC_000011.10 (1758 nt )
Protein AccessionNP_004174.1 ( 585 aa)
Genecards LinkView BEST1 gene at Genecards
Uniprot LinkO76090
KEGG LinkView BEST1 gene at KEGG
PDB Link4RDQ
Entrez Link7439
OMIM Link607854
Mode of InheritanceAutosomal Dominant
Gene NameFLCN
Chromosomal Location17p11.2
Nucleotide AccessionNC_000017.11 (1740 nt)
Protein Accession NP_659434 (579 aa)
Genecards LinkView FLCN gene at Genecards
Uniprot Link Q8NFG4
KEGG LinkView FLCN gene at KEGG
PDB Link3V42
Entrez Link201163
OMIM Link 607273
Mode of InheritanceAutosomal Dominant
Gene NameRPSI9
Chromosomal Location19q13.2
Nucleotide AccessionNC_000019.10 ( 438 nt)
Protein AccessionNP_001013.1,NP_001308412.1, NP_001308413.1, ( 145 aa )
Genecards LinkView RPSI9 gene at Genecards
Uniprot Link P39019
KEGG LinkView RPSI9 gene at KEGG
PDB Link6G5I ,6G5H ,6G18, 5A2Q, 6G4S ,6G51, 6G4W ,6G53
Entrez Link6223
OMIM Link603474
Mode of InheritanceAutosomal Dominant
Gene NameRPL5
Chromosomal Location 1p22.1
Nucleotide AccessionNC_000001.11 (894 nt)
Protein AccessionNP_000960 (297 aa)
Genecards LinkView RPL5 gene at Genecards
Uniprot Link P46777
KEGG LinkView RPL5 gene at KEGG
PDB Link4UG0
Entrez Link6125
OMIM Link 603634
Mode of InheritanceAutosomal Dominant
Gene NameRPS26
Chromosomal Location12q13.2
Nucleotide AccessionNC_000012.12 (348 nt)
Protein Accession NP_001020 ( 115 aa)
Genecards LinkView RPS26 gene at Genecards
Uniprot Link P62854
KEGG LinkView RPS26 gene at KEGG
PDB Link4UG0
Entrez Link6231
OMIM Link 603701
Mode of InheritanceAutosomal Dominant
Gene NameFOXL2
Chromosomal Location3q22.3
Nucleotide AccessionNC_000003.12 ( 1131 nt)
Protein AccessionNP_075555 ( 376 aa)
Genecards LinkView FOXL2 gene at Genecards
Uniprot LinkP58012
KEGG LinkView FOXL2 gene at KEGG
PDB LinkNA
Entrez Link668
OMIM Link 605597
Mode of InheritanceAutosomal Dominant
Gene NameASXL1
Chromosomal Location 20q11.21
Nucleotide AccessionNC_000020.11 (4626 nt)
Protein Accession NP_056153 (1541 aa)
Genecards LinkView ASXL1 gene at Genecards
Uniprot LinkQ8IXJ9
KEGG LinkView ASXL1 gene at KEGG
PDB LinkNA
Entrez Link 171023
OMIM Link612990
Mode of InheritanceAutosomal Dominant
Gene NameSOX9
Chromosomal Location17q24.3
Nucleotide AccessionNC_000017.11 ( 1530 nt)
Protein Accession NP_000337 (509 aa)
Genecards LinkView SOX9 gene at Genecards
Uniprot LinkP48436
KEGG LinkView SOX9 gene at KEGG
PDB Link4EUW
Entrez Link 6662
OMIM Link 608160
Mode of InheritanceAutosomal Dominant
Gene NamePRG4
Chromosomal Location1q31.1
Nucleotide AccessionNC_000001.11 (4215 nt)
Protein Accession NP_005798 (1404 aa)
Genecards LinkView PRG4 gene at Genecards
Uniprot LinkQ92954
KEGG LinkView PRG4 gene at KEGG
PDB LinkNA
Entrez Link 10216
OMIM Link604283
Mode of InheritanceAutosomal Recessive
Gene NameASPA
Chromosomal Location17p13.2
Nucleotide AccessionNC_000017.11 ( 942 nt )
Protein AccessionNP_000040 ( 313 aa )
Genecards LinkView ASPA gene at Genecards
Uniprot LinkP45381
KEGG LinkView ASPA gene at KEGG
PDB Link4MXU
Entrez Link 443
OMIM Link608034
Mode of InheritanceAutosomal Recessive
Gene NameHTRA1
Chromosomal Location10q26.13
Nucleotide AccessionNC_000010.11 (1443 nt)
Protein AccessionNP_002766 (480 aa)
Genecards LinkView HTRA1 gene at Genecards
Uniprot Link Q92743
KEGG LinkView HTRA1 gene at KEGG
PDB Link3TJQ
Entrez Link5654
OMIM Link 602194
Mode of InheritanceAutosomal Recessive
Gene NameLMNA
Chromosomal Location1q 21-22
Nucleotide AccessionNC_000001.11 (1995 nt )
Protein Accession NP_733821.1 (664 aa)
Genecards LinkView LMNA gene at Genecards
Uniprot LinkP02545
KEGG LinkView LMNA gene at KEGG
PDB Link1ivt
Entrez Link4000
OMIM Link150330
Mode of InheritanceAutosomal Dominant
Gene NameRBM20
Chromosomal Location10q25.2
Nucleotide AccessionNC_000010.11 (3684 nt)
Protein AccessionNP_001127835 (1227aa)
Genecards LinkView RBM20 gene at Genecards
Uniprot LinkQ5T481
KEGG LinkView RBM20 gene at KEGG
PDB LinkNA
Entrez Link282996
OMIM Link 613171
Mode of InheritanceAutosomal Dominant
Gene NameDES
Chromosomal Location2q35
Nucleotide AccessionNC_000002.12 (1413 nt)
Protein AccessionNP_001918 (470 aa)
Genecards LinkView DES gene at Genecards
Uniprot LinkP17661
KEGG LinkView DES gene at KEGG
PDB LinkNA
Entrez Link1674
OMIM Link125660
Mode of InheritanceAutosomal Dominant
Gene NameRAF1
Chromosomal Location 3p25.2
Nucleotide AccessionNC_000003.12 (1947 nt)
Protein Accession NP_002871 (648aa)
Genecards LinkView RAF1 gene at Genecards
Uniprot LinkP04049
KEGG LinkView RAF1 gene at KEGG
PDB Link1FAQ
Entrez Link5894
OMIM Link164760
Mode of InheritanceAutosomal Dominant
Gene NameMYH7
Chromosomal Location14q11.2
Nucleotide AccessionNC_000014.9 (5808 nt)
Protein AccessionNP_000248 (1935 aa)
Genecards LinkView MYH7 gene at Genecards
Uniprot LinkP12883
KEGG LinkView MYH7 gene at KEGG
PDB Link2FXM
Entrez Link4625
OMIM Link160760
Mode of InheritanceAutosomal Dominant
Gene NameRMRP
Chromosomal Location9p13.3
Nucleotide AccessionNC_000009.12 (277 nt)
Protein AccessionNA (NA)
Genecards LinkView RMRP gene at Genecards
Uniprot LinkNA
KEGG LinkView RMRP gene at KEGG
PDB LinkNA
Entrez Link6023
OMIM Link157660
Mode of InheritanceNA
Gene NameFYCO1
Chromosomal Location3p21.31
Nucleotide AccessionNP_078789 (4437 nt)
Protein AccessionNC_000003.12 (1478 aa)
Genecards LinkView FYCO1 gene at Genecards
Uniprot LinkQ9BQS8
KEGG LinkView FYCO1 gene at KEGG
PDB Link5CX3
Entrez Link79443
OMIM Link607182
Mode of InheritanceAutosomal Recessive
Gene NameTDRD7
Chromosomal Location9q22.33
Nucleotide AccessionNC_000009.12 (3297 nt)
Protein AccessionNP_055105 (1098 aa)
Genecards LinkView TDRD7 gene at Genecards
Uniprot LinkQ8NHU6
KEGG LinkView TDRD7 gene at KEGG
PDB Link3CRO
Entrez Link23424
OMIM Link611258
Mode of InheritanceAutosomal Recessive
Gene NameCRYAA
Chromosomal Location21q22.3
Nucleotide AccessionNC_000021.9 (522 nt)
Protein AccessionNP_000385 (173 aa)
Genecards LinkView CRYAA gene at Genecards
Uniprot LinkP02489
KEGG LinkView CRYAA gene at KEGG
PDB Link6T1R
Entrez Link1409
OMIM Link123580
Mode of InheritanceAutosomal Recessive
Gene NameCRYAB
Chromosomal Location11q23.1
Nucleotide AccessionNC_000011.10 (528 nt)
Protein AccessionNP_001276736 (175 aa)
Genecards LinkView CRYAB gene at Genecards
Uniprot LinkP02511
KEGG LinkView CRYAB gene at KEGG
PDB Link2KLR
Entrez Link1410
OMIM Link123590
Mode of InheritanceAD/AR
Gene NameCRYBB2
Chromosomal Location22q11.23
Nucleotide AccessionNC_000022.11 (618 nt)
Protein AccessionNP_000487 (205 aa)
Genecards LinkView CRYBB2 gene at Genecards
Uniprot LinkP43320
KEGG LinkView CRYBB2 gene at KEGG
PDB Link1YTQ
Entrez Link1415
OMIM Link123620
Mode of InheritanceAutosomal Dominant
Gene NameCRYGD
Chromosomal Location2q33.3
Nucleotide AccessionNC_000002.12 (525 nt)
Protein AccessionNP_008822 (174 aa)
Genecards LinkView CRYGD gene at Genecards
Uniprot LinkP07320
KEGG LinkView CRYGD gene at KEGG
PDB Link1H4A
Entrez Link1421
OMIM Link123690
Mode of InheritanceAutosomal Dominant
Gene NameMAF
Chromosomal Location16q23.2
Nucleotide AccessionNC_000016.10 (1122 nt)
Protein AccessionNP_001026974 (373 aa)
Genecards LinkView MAF gene at Genecards
Uniprot LinkO75444
KEGG LinkView MAF gene at KEGG
PDB LinkNA
Entrez Link4094
OMIM Link177075
Mode of InheritanceAutosomal Dominant
Gene NameCRYBB1
Chromosomal Location22q12.1
Nucleotide AccessionNC_000022.11 (759 nt)
Protein AccessionNP_001878 (252 aa)
Genecards LinkView CRYBB1 gene at Genecards
Uniprot LinkP53674
KEGG LinkView CRYBB1 gene at KEGG
PDB Link10KI
Entrez Link1414
OMIM Link600929
Mode of InheritanceAutosomal Dominant
Gene NameRFT1
Chromosomal Location3p21.1
Nucleotide AccessionNC_000003.12 (1626 nt)
Protein Accession NP_443091 (541 aa)
Genecards LinkView RFT1 gene at Genecards
Uniprot LinkQ96AA3
KEGG LinkView RFT1 gene at KEGG
PDB LinkNA
Entrez Link 91869
OMIM Link 611908
Mode of InheritanceAutosomal Recessive
Gene NameNOTCH3
Chromosomal Location19p13.12
Nucleotide AccessionNC_000019.10 (6966 nt)
Protein Accession NP_000426 (2321 aa)
Genecards LinkView NOTCH3 gene at Genecards
Uniprot LinkQ9UM47
KEGG LinkView NOTCH3 gene at KEGG
PDB Link4ZLP
Entrez Link4854
OMIM Link600276
Mode of InheritanceAutosomal Dominant
Gene NameNOTCH3
Chromosomal Location19p13.12
Nucleotide AccessionNC_000019.10 (6966 nt)
Protein AccessionNP_000426 (2321 aa)
Genecards LinkView NOTCH3 gene at Genecards
Uniprot LinkQ9UM47
KEGG LinkView NOTCH3 gene at KEGG
PDB Link4ZLP
Entrez Link4854
OMIM Link600276
Mode of InheritanceAutosomal Dominant
Gene NameHTRA1
Chromosomal Location10q26.13
Nucleotide AccessionNC_000010.1 (1443 nt)
Protein AccessionNP_002766 (480 aa)
Genecards LinkView HTRA1 gene at Genecards
Uniprot LinkQ92743
KEGG LinkView HTRA1 gene at KEGG
PDB Link6Z0E
Entrez Link5654
OMIM Link602194
Mode of InheritanceAutosomal Recessive
Gene NameABHD5
Chromosomal Location3p21.33
Nucleotide AccessionNC_000003.12 (1050 nt)
Protein AccessionNP_057090 (349 aa)
Genecards LinkView ABHD5 gene at Genecards
Uniprot LinkQ8WTS1
KEGG LinkView ABHD5 gene at KEGG
PDB LinkNA
Entrez Link51099
OMIM Link604780
Mode of InheritanceAutosomal Recessive
Gene NameHSPB1
Chromosomal Location7q11.23
Nucleotide AccessionNC_000007.14 (618 nt)
Protein AccessionNP_001531 (205 aa)
Genecards LinkView HSPB1 gene at Genecards
Uniprot LinkP04792
KEGG LinkView HSPB1 gene at KEGG
PDB Link2N3J
Entrez Link3315
OMIM Link602195
Mode of InheritanceAutosomal Dominant
Gene NamePLEKHG5
Chromosomal Location1p36.31
Nucleotide AccessionNC_000001.11 (3021 nt)
Protein Accession NP_001036129 (1006 aa)
Genecards LinkView PLEKHG5 gene at Genecards
Uniprot LinkO94827
KEGG LinkView PLEKHG5 gene at KEGG
PDB LinkNA
Entrez Link57449
OMIM Link611101
Mode of InheritanceAutosomal Recessive
Gene NameSH3TC2
Chromosomal Location5q32
Nucleotide AccessionNC_000005.10 (3867 nt)
Protein Accession NP_078853 (1288 aa)
Genecards LinkView SH3TC2 gene at Genecards
Uniprot LinkQ8TF17
KEGG LinkView SH3TC2 gene at KEGG
PDB LinkNA
Entrez Link79628
OMIM Link608206
Mode of InheritanceAutosomal Recessive
Gene NameLYST
Chromosomal Location1q42.3
Nucleotide AccessionNC_000001.11 ( 11406 nt)
Protein Accession NP_000072 ( 3801 aa)
Genecards LinkView LYST gene at Genecards
Uniprot LinkQ99698
KEGG LinkView LYST gene at KEGG
PDB LinkNA
Entrez Link 1130
OMIM Link606897
Mode of Inheritanceautosomal recessive
Gene NamePEX7
Chromosomal Location6q23.3
Nucleotide AccessionNC_000006.12 (972 nt)
Protein AccessionNP_000279 (323 aa)
Genecards LinkView PEX7 gene at Genecards
Uniprot Link O00628
KEGG LinkView PEX7 gene at KEGG
PDB LinkNA
Entrez Link5191
OMIM Link601757
Mode of InheritanceAutosomal Recessive
Gene NameCHST3
Chromosomal Location10q22.1
Nucleotide AccessionNC_000010.11 ( 1440 nt )
Protein AccessionNP_004264 (479 aa)
Genecards LinkView CHST3 gene at Genecards
Uniprot LinkQ7LGC8
KEGG LinkView CHST3 gene at KEGG
PDB LinkNA
Entrez Link9469
OMIM Link603799
Mode of InheritanceAutosomal Recessive
Gene NameDNAI1
Chromosomal Location9p13.3
Nucleotide AccessionNC_000009.12 (2100 nt)
Protein AccessionNP_036276 (699 aa)
Genecards LinkView DNAI1 gene at Genecards
Uniprot LinkQ9UI46
KEGG LinkView DNAI1 gene at KEGG
PDB LinkNA
Entrez Link27019
OMIM Link604366
Mode of InheritanceAutosomal Recessive
Gene NameHYDIN
Chromosomal Location16q22.2
Nucleotide AccessionNC_000016.10 (15366 nt)
Protein AccessionNP_001257903 (5121 aa)
Genecards LinkView HYDIN gene at Genecards
Uniprot LinkQ4G0P3
KEGG LinkView HYDIN gene at KEGG
PDB Link2E6J
Entrez Link54768
OMIM Link610812
Mode of InheritanceAutosomal Recessive
Gene NameDRC1
Chromosomal Location2p23.3
Nucleotide AccessionNC_000002.12 (2223 nt)
Protein AccessionNP_659475 (740 aa)
Genecards LinkView DRC1 gene at Genecards
Uniprot LinkQ96MC2
KEGG LinkView DRC1 gene at KEGG
PDB LinkNA
Entrez Link92749
OMIM Link615288
Mode of InheritanceAutosomal Recessive
Gene NameGJB6
Chromosomal Location13q12.11
Nucleotide AccessionNC_000013.11 (786 nt)
Protein Accession NP_001103689 (261 aa)
Genecards LinkView GJB6 gene at Genecards
Uniprot LinkO95452
KEGG LinkView GJB6 gene at KEGG
PDB LinkNA
Entrez Link 10804
OMIM Link604418
Mode of InheritanceAutosomal Dominant
Gene NameVPS13B
Chromosomal Location 8q22.2
Nucleotide AccessionNC_000008.11 (12069 nt)
Protein AccessionNP_060360 (4022 aa)
Genecards LinkView VPS13B gene at Genecards
Uniprot LinkQ7Z7G8
KEGG LinkView VPS13B gene at KEGG
PDB LinkNA
Entrez Link157680
OMIM Link607817
Mode of InheritanceAutosomal Recessive
Gene NamePAX6
Chromosomal Location11p13
Nucleotide AccessionNC_000011.10 (1269 nt)
Protein AccessionNP_000271 (422 aa)
Genecards LinkView PAX6 gene at Genecards
Uniprot LinkP26367
KEGG LinkView PAX6 gene at KEGG
PDB Link2CUE
Entrez Link5080
OMIM Link607108
Mode of InheritanceAutosomal Dominant
Gene NameNFKB2
Chromosomal Location10q24.32
Nucleotide AccessionNC_000010.11 (2703 nt)
Protein AccessionNP_001070962 (900 aa)
Genecards LinkView NFKB2 gene at Genecards
Uniprot LinkQ00653
KEGG LinkView NFKB2 gene at KEGG
PDB Link 1A3Q
Entrez Link4791
OMIM Link 164012
Mode of InheritanceAutosomal Recessive
Gene NameFBN2
Chromosomal Location5q23.3
Nucleotide AccessionNC_000005.10 ( 8739 nt)
Protein AccessionNP_001990 (2912 aa)
Genecards LinkView FBN2 gene at Genecards
Uniprot LinkP35556
KEGG LinkView FBN2 gene at KEGG
PDB LinkNA
Entrez Link2201
OMIM Link612570
Mode of InheritanceAutosomal Dominant
Gene NameECEL1
Chromosomal Location2q37.1
Nucleotide AccessionNC_000002.12 (2328 nt)
Protein AccessionNP_004817 (775 aa)
Genecards LinkView ECEL1 gene at Genecards
Uniprot LinkO95672
KEGG LinkView ECEL1 gene at KEGG
PDB LinkNA
Entrez Link9427
OMIM Link605896
Mode of InheritanceAutosomal Recessive
Gene NameTGFBI
Chromosomal Location 5q31.1
Nucleotide AccessionNC_000005.10 (2052 nt)
Protein AccessionNP_000349 (683 aa)
Genecards LinkView TGFBI gene at Genecards
Uniprot LinkQ15582
KEGG LinkView TGFBI gene at KEGG
PDB Link1X3B
Entrez Link7045
OMIM Link 601692
Mode of InheritanceAutosomal Dominant
Gene NamePRNP
Chromosomal Location20p13
Nucleotide AccessionNC_000020.11 ( 762 nt)
Protein AccessionNP_000302 (253 aa)
Genecards LinkView PRNP gene at Genecards
Uniprot LinkP04156
KEGG LinkView PRNP gene at KEGG
PDB Link4N9O
Entrez Link5621
OMIM Link176640
Mode of InheritanceAutosomal Dominant
Gene NameUGT1A1
Chromosomal Location2q37.1
Nucleotide AccessionNC_000002.12 ( 1602 nt)
Protein AccessionNP_000454 (533 aa)
Genecards LinkView UGT1A1 gene at Genecards
Uniprot Link54658
KEGG LinkView UGT1A1 gene at KEGG
PDB LinkNA
Entrez Link54658
OMIM Link191740
Mode of InheritanceAutosomal Recessive
Gene NameFGFR3
Chromosomal Location 4p16.3
Nucleotide AccessionNM_000142.4 ( 2421 nt)
Protein Accession NP_000133 (806 aa)
Genecards LinkView FGFR3 gene at Genecards
Uniprot LinkP22607
KEGG LinkView FGFR3 gene at KEGG
PDB Link 4k33
Entrez Link2261
OMIM Link134934
Mode of InheritanceAutosomal Dominant
Gene NameCTNS
Chromosomal Location17p13.2
Nucleotide AccessionNC_000017.11 (1104 nt)
Protein Accession NP_004928 (367 aa)
Genecards LinkView CTNS gene at Genecards
Uniprot LinkO60931
KEGG LinkView CTNS gene at KEGG
PDB LinkNA
Entrez Link1497
OMIM Link606272
Mode of InheritanceAutosomal Recessive
Gene NameKCNJ11
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 (1173 nt)
Protein AccessionNP_000516 (390 aa)
Genecards LinkView KCNJ11 gene at Genecards
Uniprot LinkQ14654
KEGG LinkView KCNJ11 gene at KEGG
PDB Link6C3O
Entrez Link3767
OMIM Link600937
Mode of InheritanceAutosomal Dominant
Gene NameGCK
Chromosomal Location7p13
Nucleotide AccessionNC_000007.14 (1398 nt)
Protein AccessionNP_000153 (465 aa)
Genecards LinkView GCK gene at Genecards
Uniprot LinkP35557
KEGG LinkView GCK gene at KEGG
PDB Link1V4S
Entrez Link2645
OMIM Link138079
Mode of InheritanceAutosomal Recessive
Gene NameABCC8
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 (4746 nt)
Protein AccessionNP_000343 (1581 aa)
Genecards LinkView ABCC8 gene at Genecards
Uniprot LinkQ09428
KEGG LinkView ABCC8 gene at KEGG
PDB Link7S5V
Entrez Link6833
OMIM Link600509
Mode of InheritanceNA
Gene NameABCC8
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011 (4746 nt)
Protein AccessionNP_000343 (1581 aa)
Genecards LinkView ABCC8 gene at Genecards
Uniprot LinkQ09428
KEGG LinkView ABCC8 gene at KEGG
PDB Link6C3O
Entrez Link6833
OMIM Link600509
Mode of InheritanceAutosomal Dominant
Gene NameINS
Chromosomal Location11p15.5
Nucleotide AccessionNC_000011.10 (333 nt)
Protein AccessionNP_000198 (110 aa)
Genecards LinkView INS gene at Genecards
Uniprot LinkP01308
KEGG LinkView INS gene at KEGG
PDB Link1A7F
Entrez Link3630
OMIM Link176730
Mode of InheritanceAutosomal Dominat
Gene NameKCNJ11
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 (1173 nt)
Protein AccessionNP_000516 (390 aa)
Genecards LinkView KCNJ11 gene at Genecards
Uniprot LinkQ14654
KEGG LinkView KCNJ11 gene at KEGG
PDB LinkNA
Entrez Link3767
OMIM Link600937
Mode of InheritanceAutosomal Dominant
Gene NameSLC26A2
Chromosomal Location5q32
Nucleotide AccessionNC_000005.10 (2220 nt)
Protein AccessionNP_000103 (739 aa)
Genecards LinkView SLC26A2 gene at Genecards
Uniprot LinkP50443
KEGG LinkView SLC26A2 gene at KEGG
PDB LinkNA
Entrez Link1836
OMIM Link606718
Mode of InheritanceAutosomal Recessive
Gene NameADSSL1
Chromosomal Location14q32.33
Nucleotide AccessionNC_000014.9 (1374 nt)
Protein Accession NP_689541 ( 457 aa)
Genecards LinkView ADSSL1 gene at Genecards
Uniprot Link Q8N142
KEGG LinkView ADSSL1 gene at KEGG
PDB LinkNA
Entrez Link122622
OMIM Link612498
Mode of InheritanceAutosomal Recessive
Gene NameABCC8
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 (4746 nt)
Protein AccessionNP_000343.2 (1581 aa)
Genecards LinkView ABCC8 gene at Genecards
Uniprot LinkQ09428
KEGG LinkView ABCC8 gene at KEGG
PDB Link6C3O
Entrez Link6833
OMIM Link600509
Mode of InheritanceAD/AR
Gene NameABCC2
Chromosomal Location 10q24.2
Nucleotide AccessionNC_000010.11 ( 4638 nt)
Protein Accession NP_000383 ( 1545 aa)
Genecards LinkView ABCC2 gene at Genecards
Uniprot LinkQ92887
KEGG LinkView ABCC2 gene at KEGG
PDB LinkNA
Entrez Link1244
OMIM Link601107
Mode of InheritanceAutosomal Recessive
Gene NameDYSF
Chromosomal Location2p13.2
Nucleotide AccessionNC_000002.12 (6243 nt)
Protein AccessionNP_003485 (2080 aa)
Genecards LinkView DYSF gene at Genecards
Uniprot LinkO75923
KEGG LinkView DYSF gene at KEGG
PDB Link4CAH
Entrez Link 8291
OMIM Link603009
Mode of InheritanceAutosomal Recessive
Gene NameDKC1
Chromosomal LocationXq28
Nucleotide AccessionNC_000023 (1545 nt)
Protein AccessionNP_001354 (514 aa)
Genecards LinkView DKC1 gene at Genecards
Uniprot LinkO60832
KEGG LinkView DKC1 gene at KEGG
PDB Link7BGB
Entrez Link1736
OMIM Link300126
Mode of InheritanceX-Linked Recessive
Gene NameDYT1
Chromosomal Location9q34.11
Nucleotide AccessionNC_000009.12 (999 nt)
Protein AccessionNP_000104 (332 aa)
Genecards LinkView DYT1 gene at Genecards
Uniprot LinkO14656
KEGG LinkView DYT1 gene at KEGG
PDB LinkNA
Entrez Link1861
OMIM Link605204
Mode of InheritanceAutosomal Dominant
Gene NameTHAP1
Chromosomal Location8p11.21
Nucleotide AccessionNC_000008.11 (642 nt)
Protein Accession NP_060575 (213 aa)
Genecards LinkView THAP1 gene at Genecards
Uniprot Link Q9NVV9
KEGG LinkView THAP1 gene at KEGG
PDB Link2JTG
Entrez Link55145
OMIM Link 609520
Mode of InheritanceAutosomal Dominant
Gene NameSGCE
Chromosomal Location7q21.3
Nucleotide AccessionNC_000007.14 (1314 nt)
Protein AccessionNP_003910 (437 aa )
Genecards LinkView SGCE gene at Genecards
Uniprot Link O43556
KEGG LinkView SGCE gene at KEGG
PDB LinkNA
Entrez Link8910
OMIM Link604149
Mode of InheritanceAutosomal Dominant
Gene NameATP1A3
Chromosomal Location 19q13.2
Nucleotide AccessionNC_000019.10 (3042 nt)
Protein AccessionNP_689509 (1013 aa)
Genecards LinkView ATP1A3 gene at Genecards
Uniprot Link P13637
KEGG LinkView ATP1A3 gene at KEGG
PDB LinkNA
Entrez Link478
OMIM Link182350
Mode of InheritanceAutosomal Dominant
Gene NameGNAL
Chromosomal Location18p11.21
Nucleotide AccessionNC_000018.10 ( 1146 nt)
Protein AccessionNP_001135811 ( 381 aa)
Genecards LinkView GNAL gene at Genecards
Uniprot Link P38405
KEGG LinkView GNAL gene at KEGG
PDB LinkNA
Entrez Link2774
OMIM Link 139312
Mode of InheritanceAutosomal Dominant
Gene NameCOL6A3
Chromosomal Location2q37.3
Nucleotide AccessionNC_000002.12 (9534 nt )
Protein AccessionNP_004360 (3177 aa )
Genecards LinkView COL6A3 gene at Genecards
Uniprot Link P12111
KEGG LinkView COL6A3 gene at KEGG
PDB Link1KNT
Entrez Link 1293
OMIM Link120250
Mode of InheritanceAutosomal Dominant
Gene NameGCH1
Chromosomal Location14q22.2
Nucleotide AccessionNC_000014.9 (753 nt)
Protein AccessionNP_000152 (250 aa)
Genecards LinkView GCH1 gene at Genecards
Uniprot LinkP30793
KEGG LinkView GCH1 gene at KEGG
PDB Link1FB1
Entrez Link 2643
OMIM Link600225
Mode of InheritanceAutosomal Recessive
Gene NameNOD2
Chromosomal Location16q12.1
Nucleotide AccessionNC_000016.10 (3123 nt)
Protein Accession NP_071445 ( 1040 aa )
Genecards LinkView NOD2 gene at Genecards
Uniprot LinkQ9HC29
KEGG LinkView NOD2 gene at KEGG
PDB LinkNA
Entrez Link64127
OMIM Link605956
Mode of InheritanceAutosomal Dominant
Gene NameFBN1
Chromosomal Location15q21.1
Nucleotide AccessionNC_000015.10 ( 8616 nt )
Protein Accession NP_000129 (2871 aa)
Genecards LinkView FBN1 gene at Genecards
Uniprot Link P35555
KEGG LinkView FBN1 gene at KEGG
PDB Link1UZK
Entrez Link 2200
OMIM Link129600
Mode of InheritanceAutosomal Dominant
Gene NameKCNC1
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 (1536 nt)
Protein AccessionNP_004967 (511 aa)
Genecards LinkView KCNC1 gene at Genecards
Uniprot LinkP48547
KEGG LinkView KCNC1 gene at KEGG
PDB Link7PHH
Entrez Link3746
OMIM Link176258
Mode of InheritanceAutosomal Dominant
Gene NameF7
Chromosomal Location13q34
Nucleotide AccessionNC_000013.11 (1401 nt )
Protein Accession NP_000122 (466 aa)
Genecards LinkView F7 gene at Genecards
Uniprot Link P08709
KEGG LinkView F7 gene at KEGG
PDB Link5PAG
Entrez Link 2155
OMIM Link613878
Mode of InheritanceAutosomal Recessive
Gene NameF10
Chromosomal Location13q34
Nucleotide AccessionNC_000013.11 (1467 nt)
Protein AccessionNP_000495 (488 aa)
Genecards LinkView F10 gene at Genecards
Uniprot LinkP00742
KEGG LinkView F10 gene at KEGG
PDB Link2JKH
Entrez Link2159
OMIM Link613872
Mode of InheritanceAutosomal Recessive
Gene NameF11
Chromosomal Location4q35.2
Nucleotide AccessionNC_000004.12 (1878 nt)
Protein AccessionNP_000119 (625 aa)
Genecards LinkView F11 gene at Genecards
Uniprot LinkP03951
KEGG LinkView F11 gene at KEGG
PDB Link3SOR
Entrez Link2160
OMIM Link264900
Mode of InheritanceAutosomal Recessive
Gene NameTTR
Chromosomal Location18q12.1
Nucleotide AccessionNC_000018.10 (444 nt )
Protein AccessionNP_000362 (147 aa )
Genecards LinkView TTR gene at Genecards
Uniprot LinkP02766
KEGG LinkView TTR gene at KEGG
PDB Link1F86
Entrez Link7276
OMIM Link176300
Mode of InheritanceAutosomal Dominant
Gene NameFGG
Chromosomal Location4q32.1
Nucleotide AccessionNC_000004.12 (1362 nt)
Protein AccessionNP_068656 (453 aa)
Genecards LinkView FGG gene at Genecards
Uniprot LinkP02679
KEGG LinkView FGG gene at KEGG
PDB Link1DUG
Entrez Link2266
OMIM Link134850
Mode of InheritanceAutosomal Recessive
Gene NameFGA
Chromosomal Location 4q31.3
Nucleotide AccessionNC_000004.12 (2601 nt)
Protein AccessionNP_000499 (866 aa)
Genecards LinkView FGA gene at Genecards
Uniprot Link P02671
KEGG LinkView FGA gene at KEGG
PDB Link1BBR
Entrez Link2243
OMIM Link134820
Mode of InheritanceAutosomal Recessive
Gene NameFGB
Chromosomal Location4q31.3
Nucleotide AccessionNC_000004.12 (1476 nt)
Protein Accession NP_005132 (491 aa)
Genecards LinkView FGB gene at Genecards
Uniprot LinkP02675
KEGG LinkView FGB gene at KEGG
PDB Link1FZA
Entrez Link 2244
OMIM Link134830
Mode of InheritanceAutosomal Recessive
Gene NameACTN4
Chromosomal Location19q13.2
Nucleotide AccessionNC_000019.10 (2736 nt)
Protein AccessionNP_004915 (911 aa)
Genecards LinkView ACTN4 gene at Genecards
Uniprot LinkO43707
KEGG LinkView ACTN4 gene at KEGG
PDB Link1WLX
Entrez Link 81
OMIM Link604638
Mode of InheritanceAutosomal Dominant
Gene NameCD2AP
Chromosomal Location6p12.3
Nucleotide AccessionNC_000006.12 (1920nt )
Protein AccessionNP_036252 (639 aa)
Genecards LinkView CD2AP gene at Genecards
Uniprot LinkQ9Y5K6
KEGG LinkView CD2AP gene at KEGG
PDB Link2FEI
Entrez Link23607
OMIM Link604241
Mode of InheritanceAutosomal Dominant
Gene NameANLN
Chromosomal Location7p14.2
Nucleotide AccessionNC_000007.14 (3375 nt)
Protein AccessionNP_061155 (1124 aa)
Genecards LinkView ANLN gene at Genecards
Uniprot LinkQ9NQW6
KEGG LinkView ANLN gene at KEGG
PDB Link2Y7B
Entrez Link54443
OMIM Link616027
Mode of InheritanceAutosomal Dominant
Gene NameCRB2
Chromosomal Location9q33.3
Nucleotide AccessionNC_000009.12 (3858 nt )
Protein AccessionNP_775960 (1285 aa)
Genecards LinkView CRB2 gene at Genecards
Uniprot LinkQ5IJ48
KEGG LinkView CRB2 gene at KEGG
PDB Link2WO6
Entrez Link286204
OMIM Link609720
Mode of InheritanceAutosomal Recessive
Gene NameTP63
Chromosomal Location3q28
Nucleotide AccessionNC_000003.12 (2043 nt)
Protein AccessionNP_003713 (680 aa)
Genecards LinkView TP63 gene at Genecards
Uniprot LinkA0A0S2Z4N5
KEGG LinkView TP63 gene at KEGG
PDB Link1RG6
Entrez Link8626
OMIM Link603273
Mode of InheritanceAutosomal Dominant
Gene NameWNT10B
Chromosomal Location12q13.12
Nucleotide AccessionNC_000012.12 (1170 nt)
Protein AccessionNP_003385 (389 aa)
Genecards LinkView WNT10B gene at Genecards
Uniprot LinkO00744
KEGG LinkView WNT10B gene at KEGG
PDB Link_
Entrez Link7480
OMIM Link601906
Mode of InheritanceAutosomal Recessive
Gene NameFRAS1
Chromosomal Location4q21.21
Nucleotide AccessionNC_000004.12 (12039 nt)
Protein AccessionNP_079350 (4012 aa)
Genecards LinkView FRAS1 gene at Genecards
Uniprot LinkQ86XX4
KEGG LinkView FRAS1 gene at KEGG
PDB LinkNA
Entrez Link80144
OMIM Link607830
Mode of InheritanceAutosomal Recessive
Gene NameC9orf72
Chromosomal Location9p21.2
Nucleotide AccessionNC_000009.12 (1446 nt)
Protein AccessionNP_001242983 (481 aa)
Genecards LinkView C9orf72 gene at Genecards
Uniprot LinkQ96LT7
KEGG LinkView C9orf72 gene at KEGG
PDB Link6LT0
Entrez Link203228
OMIM Link614260
Mode of InheritanceAutosomal Dominant
Gene NameSWSTM1
Chromosomal Location5q35.3
Nucleotide AccessionNC_000005.10 (1323 nt)
Protein AccessionNP_003891 (440 aa)
Genecards LinkView SWSTM1 gene at Genecards
Uniprot LinkQ13501
KEGG LinkView SWSTM1 gene at KEGG
PDB Link1Q02
Entrez Link8878
OMIM Link601530
Mode of InheritanceAutosomal Dominant
Gene NameTBK1
Chromosomal Location12q14.2
Nucleotide AccessionNC_000012.12 (2190 nt)
Protein Accessionnp_037386 (729 aa)
Genecards LinkView TBK1 gene at Genecards
Uniprot LinkQ9UHD2
KEGG LinkView TBK1 gene at KEGG
PDB Link4EFO
Entrez Link29110
OMIM Link604834
Mode of InheritanceAutosomal Dominant
Gene NameCHMP2B
Chromosomal Location3p11.2
Nucleotide AccessionNC_000003.12 (642 nt)
Protein AccessionNP_054762 (213 aa)
Genecards LinkView CHMP2B gene at Genecards
Uniprot Link
KEGG LinkView CHMP2B gene at KEGG
PDB Link2JQK
Entrez Link25978
OMIM Link609512
Mode of InheritanceAutosomal Dominant
Gene NameFBP1
Chromosomal Location 9q22.32
Nucleotide AccessionNC_000009.12 ( 1017 nt)
Protein Accession NP_000498 (338 aa)
Genecards LinkView FBP1 gene at Genecards
Uniprot LinkP09467
KEGG LinkView FBP1 gene at KEGG
PDB Link1FTA
Entrez Link 2203
OMIM Link611570
Mode of InheritanceAutosomal Recessive
Gene NameSLC4A11
Chromosomal Location20p13
Nucleotide AccessionNC_000020.11 (2628 nt)
Protein AccessionNP_001167560 (875 aa)
Genecards LinkView SLC4A11 gene at Genecards
Uniprot LinkQ8NBS3
KEGG LinkView SLC4A11 gene at KEGG
PDB LinkNA
Entrez Link83959
OMIM Link610206
Mode of InheritanceAutosomal Recessive
Gene NameFUCA1
Chromosomal Location 1p36.11
Nucleotide AccessionNC_000001.11 (1401 nt)
Protein Accession NP_000138 ( 466 aa)
Genecards LinkView FUCA1 gene at Genecards
Uniprot LinkP04066
KEGG LinkView FUCA1 gene at KEGG
PDB LinkNA
Entrez Link2517
OMIM Link612280
Mode of Inheritance autosomal recessive
Gene NameGALK1
Chromosomal Location17q25.1
Nucleotide AccessionNC_000017.11 (1179 nt)
Protein AccessionNP_000145 (392 aa)
Genecards LinkView GALK1 gene at Genecards
Uniprot Link V9HWE7
KEGG LinkView GALK1 gene at KEGG
PDB LinkNA
Entrez Link2584
OMIM Link604313
Mode of InheritanceAutosomal Recessive
Gene NameGALT
Chromosomal Location9p13.3
Nucleotide AccessionNC_000009.12 (1140 nt)
Protein AccessionNP_000146 (379 aa)
Genecards LinkView GALT gene at Genecards
Uniprot LinkP07902
KEGG LinkView GALT gene at KEGG
PDB Link5IN3
Entrez Link2592
OMIM Link606999
Mode of InheritanceAutosomal Recessive
Gene NameWDR4
Chromosomal Location21q22.3
Nucleotide AccessionNC_000021.9 (1239 nt)
Protein AccessionNP_061139 (412 aa)
Genecards LinkView WDR4 gene at Genecards
Uniprot LinkP57081
KEGG LinkView WDR4 gene at KEGG
PDB LinkNA
Entrez Link10785
OMIM Link605924
Mode of InheritanceAutosomal Recessive
Gene NameGBA
Chromosomal Location1q22
Nucleotide AccessionNC_000001.11 (1611 nt)
Protein AccessionNP_000148 ( 536 aa)
Genecards LinkView GBA gene at Genecards
Uniprot LinkP04062
KEGG LinkView GBA gene at KEGG
PDB Link6Q6N
Entrez Link 2629
OMIM Link 606463
Mode of InheritanceAutosomal Recessive
Gene NameGBA
Chromosomal Location1q22
Nucleotide AccessionNC_000001.11 (1611 nt)
Protein AccessionNP_000148 ( 536 aa)
Genecards LinkView GBA gene at Genecards
Uniprot LinkP04062
KEGG LinkView GBA gene at KEGG
PDB Link6Q6N
Entrez Link 2629
OMIM Link 606463
Mode of InheritanceAutosomal Recessive
Gene NameGAN
Chromosomal Location16q23.2
Nucleotide AccessionNC_000016.10 (1794 nt)
Protein AccessionNP_071324 (597 aa)
Genecards LinkView GAN gene at Genecards
Uniprot LinkQ9H2C0
KEGG LinkView GAN gene at KEGG
PDB Link2PPI
Entrez Link8139
OMIM Link605379
Mode of InheritanceAutosomal Recessive
Gene NameSLC12A3
Chromosomal Location16q13
Nucleotide AccessionNC_000016.10 (3066 nt)
Protein AccessionNP_001119580 (1021 aa)
Genecards LinkView SLC12A3 gene at Genecards
Uniprot LinkP55017
KEGG LinkView SLC12A3 gene at KEGG
PDB LinkNA
Entrez Link 6559
OMIM Link 600968
Mode of InheritanceAutosomal Recessive
Gene NameITGA2B
Chromosomal Location17q21.31
Nucleotide AccessionNC_000017.11 (3120 nt)
Protein AccessionNP_000410 (1039 aa)
Genecards LinkView ITGA2B gene at Genecards
Uniprot LinkP08514
KEGG LinkView ITGA2B gene at KEGG
PDB Link1DPK
Entrez Link3674
OMIM Link607759
Mode of InheritanceAutosomal Recessive
Gene NameITGB3
Chromosomal Location17q21.32
Nucleotide AccessionNC_000017.11 (2367 nt)
Protein AccessionNP_000203 (788 aa)
Genecards LinkView ITGB3 gene at Genecards
Uniprot LinkP05106
KEGG LinkView ITGB3 gene at KEGG
PDB Link1JV2
Entrez Link3690
OMIM Link173470
Mode of InheritanceNA
Gene NameCYP1B1
Chromosomal Location2p22.2
Nucleotide AccessionNC_000002.12 (1632 nt)
Protein AccessionNP_000095 (543 aa)
Genecards LinkView CYP1B1 gene at Genecards
Uniprot LinkQ16678
KEGG LinkView CYP1B1 gene at KEGG
PDB Link3PM0
Entrez Link1545
OMIM Link601771
Mode of InheritanceAutosomal Recessive
Gene NameLTBP2
Chromosomal Location14q24.3
Nucleotide AccessionNC_000014.9 (5466 nt)
Protein AccessionNP_000419 (1821 aa)
Genecards LinkView LTBP2 gene at Genecards
Uniprot LinkQ14767
KEGG LinkView LTBP2 gene at KEGG
PDB LinkNA
Entrez Link4053
OMIM Link602091
Mode of InheritanceAutosomal Recessive
Gene NameOPTN
Chromosomal Location10p13
Nucleotide AccessionNC_000010.11 (1734 nt)
Protein AccessionNP_001008212 (577 aa)
Genecards LinkView OPTN gene at Genecards
Uniprot LinkQ96CV9
KEGG LinkView OPTN gene at KEGG
PDB Link2LO4
Entrez Link10133
OMIM Link602432
Mode of InheritanceAutosomal Dominant
Gene NameGCDH
Chromosomal Location 19p13.13
Nucleotide AccessionNC_000019.10 (1317 nt)
Protein Accession NP_000150 (438 aa)
Genecards LinkView GCDH gene at Genecards
Uniprot LinkQ92947
KEGG LinkView GCDH gene at KEGG
PDB Link1SIQ
Entrez Link 2639
OMIM Link608801
Mode of InheritanceAutosomal Recessive
Gene NameGCDH
Chromosomal Location19p13.13
Nucleotide AccessionNC_000019.10 (1317 nt)
Protein AccessionNP_000150 (438 aa)
Genecards LinkView GCDH gene at Genecards
Uniprot LinkQ92947
KEGG LinkView GCDH gene at KEGG
PDB Link 1SIQ
Entrez Link 2639
OMIM Link 608801
Mode of InheritanceAutosomal Recessive
Gene NameAGL
Chromosomal Location 1p21.2
Nucleotide AccessionNC_000001.11 ( 4599 nt)
Protein Accession NP_000019 ( 1532 aa)
Genecards LinkView AGL gene at Genecards
Uniprot LinkP35573
KEGG LinkView AGL gene at KEGG
PDB LinkNA
Entrez Link178
OMIM Link610860
Mode of InheritanceAutosomal Recessive
Gene NamePYGL
Chromosomal Location14q22.1
Nucleotide AccessionNC_000014.9 ( 2544 nt)
Protein AccessionNP_002854 ( 847 aa)
Genecards LinkView PYGL gene at Genecards
Uniprot LinkP06737
KEGG LinkView PYGL gene at KEGG
PDB Link1EM6
Entrez Link5836
OMIM Link613741
Mode of InheritanceAutosomal Recessive
Gene NameGLB1
Chromosomal Location3p22.3
Nucleotide AccessionNC_000003.12 ( 2034 nt)
Protein AccessionNP_000395 ( 677 aa )
Genecards LinkView GLB1 gene at Genecards
Uniprot LinkP16278
KEGG LinkView GLB1 gene at KEGG
PDB Link3THD
Entrez Link2720
OMIM Link611458
Mode of InheritanceAutosomal Recessive
Gene NameGNE
Chromosomal Location9p13.3
Nucleotide AccessionNC_000009.12 (2169 nt)
Protein Accession NP_005467 (722 aa)
Genecards LinkView GNE gene at Genecards
Uniprot Link Q9Y223
KEGG LinkView GNE gene at KEGG
PDB Link2YHW
Entrez Link10020
OMIM Link 603824
Mode of InheritanceAutosomal Recessive
Gene NameCYBB
Chromosomal LocationXp21.1-p11.4
Nucleotide AccessionNC_000023 (1713 nt)
Protein Accession NP_000388 (570 aa)
Genecards LinkView CYBB gene at Genecards
Uniprot LinkP04839
KEGG LinkView CYBB gene at KEGG
PDB Link3A1F
Entrez Link1536
OMIM Link300481
Mode of InheritanceX-Linked Recessive
Gene NameGLI3
Chromosomal Location7p14.1
Nucleotide AccessionNC_000007.14 (4743 nt)
Protein Accession NP_000159 (1580 aa)
Genecards LinkView GLI3 gene at Genecards
Uniprot LinkP10071
KEGG LinkView GLI3 gene at KEGG
PDB Link4BLD
Entrez Link 2737
OMIM Link165240
Mode of InheritanceAutosomal Dominant
Gene NameGHRHR
Chromosomal Location7p14.3
Nucleotide AccessionNC_000007.14 ( 1272 nt)
Protein Accession NP_000814 (423 aa)
Genecards LinkView GHRHR gene at Genecards
Uniprot LinkQ02643
KEGG LinkView GHRHR gene at KEGG
PDB Link2XDG
Entrez Link2692
OMIM Link139191
Mode of InheritanceAutosomal Recessive
Gene NameABCA12
Chromosomal Location2q35
Nucleotide AccessionNC_000002.12 ( 7788 nt)
Protein Accession NP_775099 (2595 aa )
Genecards LinkView ABCA12 gene at Genecards
Uniprot Link Q86UK0
KEGG LinkView ABCA12 gene at KEGG
PDB LinkNA
Entrez Link 26154
OMIM Link607800
Mode of InheritanceAutosomal Recessive
Gene NameGPI
Chromosomal Location19q13.11
Nucleotide AccessionNC_000019.10 (1677 nt)
Protein AccessionNP_000166 (558 aa)
Genecards LinkView GPI gene at Genecards
Uniprot LinkP06744
KEGG LinkView GPI gene at KEGG
PDB Link1IAT
Entrez Link2821
OMIM Link172400
Mode of InheritanceAutosomal Recessive
Gene NameHK1
Chromosomal Location10q22.1
Nucleotide AccessionNC_000010.11 (2754 nt)
Protein AccessionNP_000179 (917 aa)
Genecards LinkView HK1 gene at Genecards
Uniprot LinkP19367
KEGG LinkView HK1 gene at KEGG
PDB Link1CZA
Entrez Link3098
OMIM Link142600
Mode of InheritanceAutosomal Recessive
Gene NameG6PD
Chromosomal LocationXq28
Nucleotide AccessionNC_000023ttps://www.genome.jp/entry/-f+-n+n+hsa:2539 (1548 nt)
Protein AccessionNP_001035810 (515 aa)
Genecards LinkView G6PD gene at Genecards
Uniprot LinkP11413
KEGG LinkView G6PD gene at KEGG
PDB Link1QKI
Entrez Link2539
OMIM Link305900
Mode of InheritanceX-Linked Recessive
Gene NamePRF1
Chromosomal Location10q22.1
Nucleotide AccessionNC_000010.11 (1668 nt)
Protein AccessionNP_001076585 (555 aa)
Genecards LinkView PRF1 gene at Genecards
Uniprot LinkP14222
KEGG LinkView PRF1 gene at KEGG
PDB LinkNA
Entrez Link5551
OMIM Link170280
Mode of InheritanceAutosomal Recessive
Gene NameUNC13D
Chromosomal Location17q25.1
Nucleotide AccessionNC_000017.11 (3273 nt)
Protein AccessionNP_954712 (1090 aa)
Genecards LinkView UNC13D gene at Genecards
Uniprot LinkQ70J99
KEGG LinkView UNC13D gene at KEGG
PDB LinkNA
Entrez Link201294
OMIM Link608897
Mode of InheritanceAutosomal Recessive
Gene NameSTX11
Chromosomal Location6q24.2
Nucleotide AccessionNC_000006.12 (864 nt)
Protein AccessionNP_003755 (287 aa)
Genecards LinkView STX11 gene at Genecards
Uniprot LinkO75558
KEGG LinkView STX11 gene at KEGG
PDB Link
Entrez Link8676
OMIM Link605014
Mode of InheritanceAutosomal Recessive
Gene NameALDOB
Chromosomal Location 9q31.1
Nucleotide AccessionNC_000009.12 ( 1095 nt)
Protein AccessionNP_000026 ( 364 aa)
Genecards LinkView ALDOB gene at Genecards
Uniprot LinkP05062
KEGG LinkView ALDOB gene at KEGG
PDB Link1QO5
Entrez Link229
OMIM Link612724
Mode of InheritanceAutosomal Recessive
Gene NameHPS3
Chromosomal Location3q24
Nucleotide AccessionNC_000003.12 (3015 nt)
Protein AccessionNP_115759 (1004 aa)
Genecards LinkView HPS3 gene at Genecards
Uniprot LinkQ969F9
KEGG LinkView HPS3 gene at KEGG
PDB LinkNA
Entrez Link84343
OMIM Link606118
Mode of InheritanceAutosomal Recessive
Gene NameHPS4
Chromosomal Location22q12.1
Nucleotide AccessionNC_000022.11 (2127 nt)
Protein AccessionNP_071364 (708 aa)
Genecards LinkView HPS4 gene at Genecards
Uniprot LinkQ9NQG7
KEGG LinkView HPS4 gene at KEGG
PDB LinkNA
Entrez Link89781
OMIM Link606682
Mode of InheritanceAutosomal Recessive
Gene NameCBS
Chromosomal Location 21q22.3
Nucleotide AccessionNC_000021.9 (1656 nt)
Protein Accession NP_000062 (551 aa)
Genecards LinkView CBS gene at Genecards
Uniprot LinkP35520
KEGG LinkView CBS gene at KEGG
PDB Link1JBQ
Entrez Link875
OMIM Link613381
Mode of InheritanceAutosomal Recessive
Gene NameSCN4A
Chromosomal Location17q23.3
Nucleotide AccessionNC_000017.11 (5511 nt )
Protein Accession NP_000325 (1836 aa)
Genecards LinkView SCN4A gene at Genecards
Uniprot LinkP35499
KEGG LinkView SCN4A gene at KEGG
PDB Link 6AGF
Entrez Link6329
OMIM Link603967
Mode of InheritanceAutosomal Dominant
Gene NameLPL
Chromosomal Location8p21.3
Nucleotide AccessionNC_000008.11 (1428 nt)
Protein AccessionNP_000228 (475 aa)
Genecards LinkView LPL gene at Genecards
Uniprot LinkP06858
KEGG LinkView LPL gene at KEGG
PDB Link6E7K
Entrez Link4023
OMIM Link609708
Mode of InheritanceAutosomal Dominant
Gene NameAPOA5
Chromosomal Location11q23.3
Nucleotide AccessionNC_000011.10 (1101 nt)
Protein AccessionNP_001160070 (366 aa)
Genecards LinkView APOA5 gene at Genecards
Uniprot LinkQ6Q788
KEGG LinkView APOA5 gene at KEGG
PDB LinkNA
Entrez Link116519
OMIM Link606368
Mode of InheritanceAutosomal Dominant
Gene NameAGXT
Chromosomal Location2q37.3
Nucleotide AccessionNC_000002.12 ( 1179 nt)
Protein AccessionNP_000021 (392 aa)
Genecards LinkView AGXT gene at Genecards
Uniprot LinkP21549
KEGG LinkView AGXT gene at KEGG
PDB Link5HHY
Entrez Link189
OMIM Link 604285
Mode of InheritanceAutosomal Recessive
Gene NameCDC73
Chromosomal Location1q31.2
Nucleotide AccessionNC_000001.11 (1596 nt)
Protein AccessionNP_078805 (531 aa)
Genecards LinkView CDC73 gene at Genecards
Uniprot LinkQ6P1J9
KEGG LinkView CDC73 gene at KEGG
PDB Link5YDE
Entrez Link79577
OMIM Link607393
Mode of InheritanceAutosomal Dominant
Gene NameCDC73
Chromosomal Location1q31.2
Nucleotide AccessionNC_000001.11 (1596 nt)
Protein AccessionNP_078805 (531 aa)
Genecards LinkView CDC73 gene at Genecards
Uniprot LinkQ6P1J9
KEGG LinkView CDC73 gene at KEGG
PDB Link5YDE
Entrez Link79577
OMIM Link607393
Mode of InheritanceAutosomal Dominant
Gene NameCASR
Chromosomal Location3q13.33-q21.1
Nucleotide AccessionNC_000003.12 (3237 nt)
Protein AccessionNP_000379 (1078 aa)
Genecards LinkView CASR gene at Genecards
Uniprot LinkP41180
KEGG LinkView CASR gene at KEGG
PDB Link5FBH
Entrez Link846
OMIM Link601199
Mode of InheritanceAutosomal Dominant
Gene NameCASR
Chromosomal Location3q13.33-q21.1
Nucleotide AccessionNC_000003.12 (3237 nt)
Protein AccessionNP_000379 (1078 aa)
Genecards LinkView CASR gene at Genecards
Uniprot LinkP41180
KEGG LinkView CASR gene at KEGG
PDB Link5FBH
Entrez Link846
OMIM Link601199
Mode of InheritanceAutosomal Recessive
Gene NameALDH4A1
Chromosomal Location 1p36.13
Nucleotide AccessionNC_000001.11 ( 1692 nt)
Protein Accession NP_003739 ( 563 aa)
Genecards LinkView ALDH4A1 gene at Genecards
Uniprot LinkP30038
KEGG LinkView ALDH4A1 gene at KEGG
PDB Link3V9G
Entrez Link 8659
OMIM Link606811
Mode of Inheritanceautosomal recessive
Gene NameFGFR3
Chromosomal Location4p16.3
Nucleotide AccessionNC_000004.12 (2421 nt)
Protein Accession NP_000133 ( 806 aa)
Genecards LinkView FGFR3 gene at Genecards
Uniprot LinkP22607
KEGG LinkView FGFR3 gene at KEGG
PDB Link1RY7
Entrez Link2261
OMIM Link134934
Mode of InheritanceAutosomal Dominant
Gene NameCACNA1S
Chromosomal Location1q32.1
Nucleotide AccessionNC_000001.11 (5622 nt)
Protein AccessionNP_000060 (1873 aa)
Genecards LinkView CACNA1S gene at Genecards
Uniprot LinkQ13698
KEGG LinkView CACNA1S gene at KEGG
PDB Link2VAY
Entrez Link779
OMIM Link114208
Mode of InheritanceAutosomal Dominant
Gene NameALPL
Chromosomal Location1p36.12
Nucleotide AccessionNC_000001.11 (1575 nt)
Protein AccessionNP_000469 (524 aa)
Genecards LinkView ALPL gene at Genecards
Uniprot LinkP05186
KEGG LinkView ALPL gene at KEGG
PDB LinkNA
Entrez Link249
OMIM Link 171760
Mode of Inheritanceautosomal recessive
Gene NameTSHR
Chromosomal Location14q31.1
Nucleotide AccessionNC_000014.9 (2295 nt)
Protein AccessionNP_000360 ( 764 aa)
Genecards LinkView TSHR gene at Genecards
Uniprot Link P16473
KEGG LinkView TSHR gene at KEGG
PDB Link2XWT
Entrez Link 7253
OMIM Link603372
Mode of InheritanceAutosomal Recessive
Gene NameTSHB
Chromosomal Location1p13.2
Nucleotide AccessionNC_000001.11 (417 nt)
Protein Accession NP_000540 ( 138 aa)
Genecards LinkView TSHB gene at Genecards
Uniprot LinkP01222
KEGG LinkView TSHB gene at KEGG
PDB LinkNA
Entrez Link7252
OMIM Link188540
Mode of InheritanceAutosomal Recessive
Gene NameTGM1
Chromosomal Location14q12
Nucleotide AccessionNC_000014.9 (2454 nt)
Protein AccessionNP_000350 (817 aa)
Genecards LinkView TGM1 gene at Genecards
Uniprot LinkP22735
KEGG LinkView TGM1 gene at KEGG
PDB Link2XZZ
Entrez Link7051
OMIM Link190195
Mode of InheritanceAutosomal Recessive
Gene NameALOX12B
Chromosomal Location17p13.1
Nucleotide AccessionNC_000017.11 (2106 nt)
Protein AccessionNP_001130 (701 aa)
Genecards LinkView ALOX12B gene at Genecards
Uniprot LinkO75342
KEGG LinkView ALOX12B gene at KEGG
PDB LinkNA
Entrez Link242
OMIM Link603741
Mode of InheritanceAutosomal Recessive
Gene NameABCA12
Chromosomal Location2q35
Nucleotide AccessionNC_000002.12 (7788 nt)
Protein AccessionNP_775099 (2595 aa)
Genecards LinkView ABCA12 gene at Genecards
Uniprot LinkQ86UK0
KEGG LinkView ABCA12 gene at KEGG
PDB LinkNA
Entrez Link26154
OMIM Link607800
Mode of InheritanceAutosomal Recessive
Gene NameABCA12
Chromosomal Location2q35
Nucleotide AccessionNC_000002.12 (7788 nt)
Protein AccessionNP_775099 (2595 aa)
Genecards LinkView ABCA12 gene at Genecards
Uniprot LinkQ86UK0
KEGG LinkView ABCA12 gene at KEGG
PDB LinkNA
Entrez Link26154
OMIM Link607800
Mode of InheritanceAutosomal Recessive
Gene NameCD40
Chromosomal Location20q13.12
Nucleotide AccessionNC_000020.11 (834 nt)
Protein Accession NP_001241 (277 aa)
Genecards LinkView CD40 gene at Genecards
Uniprot LinkP25942
KEGG LinkView CD40 gene at KEGG
PDB Link1CZZ
Entrez Link958
OMIM Link109535
Mode of InheritanceAutosomal Recessive
Gene NamePTH1R
Chromosomal Location3p21.31
Nucleotide AccessionNC_000003.12 (1782 nt)
Protein Accession NP_000307 (593 aa)
Genecards LinkView PTH1R gene at Genecards
Uniprot LinkQ03431
KEGG LinkView PTH1R gene at KEGG
PDB Link6NBF
Entrez Link 5745
OMIM Link168468
Mode of InheritanceAutosomal Dominant
Gene NameUBR1
Chromosomal Location15q15.2
Nucleotide AccessionNC_000015.10 (5250 nt)
Protein Accession (1749 aa)
Genecards LinkView UBR1 gene at Genecards
Uniprot LinkQ8IWV7
KEGG LinkView UBR1 gene at KEGG
PDB Link5TDC
Entrez Link197131
OMIM Link605981
Mode of InheritanceAutosomal Recessive
Gene NameINPP5E
Chromosomal Location 9q34.3
Nucleotide AccessionNC_000009.12 (1935 nt)
Protein AccessionNP_063945 (644 aa)
Genecards LinkView INPP5E gene at Genecards
Uniprot LinkQ9NRR6
KEGG LinkView INPP5E gene at KEGG
PDB Link2XSW
Entrez Link56623
OMIM Link613037
Mode of InheritanceAutosomal Recessive
Gene NameAHI1
Chromosomal Location 6q23.3
Nucleotide AccessionNC_000006.12 (3591 nt)
Protein AccessionNP_001128302 (1196 aa)
Genecards LinkView AHI1 gene at Genecards
Uniprot LinkQ8N157
KEGG LinkView AHI1 gene at KEGG
PDB Link4ESR
Entrez Link 54806
OMIM Link608894
Mode of InheritanceAutosomal Recessive
Gene NameTMEM67
Chromosomal Location8q22.1
Nucleotide AccessionNC_000008.11 (2745 nt)
Protein AccessionNP_001135773 (914 aa)
Genecards LinkView TMEM67 gene at Genecards
Uniprot LinkA0A7P0MXI9
KEGG LinkView TMEM67 gene at KEGG
PDB LinkNA
Entrez Link91147
OMIM Link609884
Mode of InheritanceAutosomal Recessive
Gene NameCC2D2A
Chromosomal Location 4p15.32
Nucleotide AccessionNC_000004.12 (4863 nt)
Protein AccessionNP_001073991 (1620 aa )
Genecards LinkView CC2D2A gene at Genecards
Uniprot LinkQ9P2K1
KEGG LinkView CC2D2A gene at KEGG
PDB LinkNA
Entrez Link57545
OMIM Link612013
Mode of InheritanceAutosomal Recessive
Gene NameTMEM237
Chromosomal Location2q33.1
Nucleotide AccessionNC_000002.12 (1227 nt)
Protein AccessionNP_001037850 (408 aa)
Genecards LinkView TMEM237 gene at Genecards
Uniprot LinkQ96Q45
KEGG LinkView TMEM237 gene at KEGG
PDB LinkNA
Entrez Link65062
OMIM Link614423
Mode of InheritanceAutosomal Recessive
Gene NameTCTN3
Chromosomal Location10q24.1
Nucleotide AccessionNC_000010.11 (1824 nt)
Protein Accession NP_056446 (607 aa)
Genecards LinkView TCTN3 gene at Genecards
Uniprot LinkQ6NUS6
KEGG LinkView TCTN3 gene at KEGG
PDB LinkNA
Entrez Link26123
OMIM Link613847
Mode of InheritanceAutosomal Recessive
Gene NameCSPP1
Chromosomal Location 8q13.1-q13.2
Nucleotide AccessionNC_000008.11 (3666 nt)
Protein AccessionNP_079066 (1221 aa)
Genecards LinkView CSPP1 gene at Genecards
Uniprot LinkQ1MSJ5
KEGG LinkView CSPP1 gene at KEGG
PDB LinkNA
Entrez Link79848
OMIM Link611654
Mode of InheritanceAutosomal Recessive
Gene NameTCTN2
Chromosomal Location12q24.31
Nucleotide AccessionNC_000012.12 (2094 nt)
Protein AccessionNP_079085 (697 aa)
Genecards LinkView TCTN2 gene at Genecards
Uniprot LinkQ96GX1
KEGG LinkView TCTN2 gene at KEGG
PDB LinkNA
Entrez Link79867
OMIM Link613846
Mode of InheritanceAutosomal Recessive
Gene NameKATNIP
Chromosomal Location16p12.1
Nucleotide AccessionNC_000016.10 (4857 nt)
Protein AccessionNP_056017 (1618 aa)
Genecards LinkView KATNIP gene at Genecards
Uniprot LinkO60303
KEGG LinkView KATNIP gene at KEGG
PDB LinkNA
Entrez Link23247
OMIM Link616650
Mode of InheritanceAutosomal Recessive
Gene NameARMC9
Chromosomal Location2q37.1
Nucleotide AccessionNC_000002.12 (1998 nt)
Protein AccessionNP_001278585 (665 aa)
Genecards LinkView ARMC9 gene at Genecards
Uniprot LinkQ7Z3E5
KEGG LinkView ARMC9 gene at KEGG
PDB LinkNA
Entrez Link80210
OMIM Link617612
Mode of InheritanceAutosomal Recessive
Gene NamePIBF1
Chromosomal Location13q21.33-q22.1
Nucleotide AccessionNC_000013.11 (2274 nt)
Protein AccessionNP_006337 (757 aa)
Genecards LinkView PIBF1 gene at Genecards
Uniprot LinkQ8WXW3
KEGG LinkView PIBF1 gene at KEGG
PDB LinkNA
Entrez Link10464
OMIM Link607532
Mode of InheritanceAutosomal Recessive
Gene NameKIAA0753
Chromosomal Location17p13.1
Nucleotide AccessionNC_000017.11 (2904 nt)
Protein AccessionNP_055619 (967 aa)
Genecards LinkView KIAA0753 gene at Genecards
Uniprot LinkQ2KHM9
KEGG LinkView KIAA0753 gene at KEGG
PDB LinkNA
Entrez Link9851
OMIM Link617112
Mode of InheritanceAutosomal Recessive
Gene NameFGFR1
Chromosomal Location8p11.23
Nucleotide AccessionNC_000008.11 (2469 nt)
Protein AccessionNP_075598 (822 aa)
Genecards LinkView FGFR1 gene at Genecards
Uniprot LinkP11362
KEGG LinkView FGFR1 gene at KEGG
PDB Link1AGW
Entrez Link2260
OMIM Link136350
Mode of InheritanceAutosomal Dominant
Gene NameGALC
Chromosomal Location14q31.3
Nucleotide AccessionNC_000014.9 (2058 nt)
Protein AccessionNP_000144.2 (685 aa)
Genecards LinkView GALC gene at Genecards
Uniprot LinkP54803
KEGG LinkView GALC gene at KEGG
PDB LinkNA
Entrez Link2581
OMIM Link606890
Mode of InheritanceAutosomal Recessive
Gene NameATP13A2
Chromosomal Location1p36.13
Nucleotide AccessionNC_000001.11 (3543 nt)
Protein AccessionNP_071372 (1180 aa)
Genecards LinkView ATP13A2 gene at Genecards
Uniprot LinkQ9NQ11
KEGG LinkView ATP13A2 gene at KEGG
PDB LinkNA
Entrez Link 23400
OMIM Link610513
Mode of InheritanceAutosomal Recessive
Gene NameFLNB
Chromosomal Location3p14.3
Nucleotide AccessionNC_000003.12 ( 7809 nt)
Protein Accession NP_001448 (2602 aa)
Genecards LinkView FLNB gene at Genecards
Uniprot LinkO75369
KEGG LinkView FLNB gene at KEGG
PDB Link2DI8
Entrez Link2317
OMIM Link603381
Mode of InheritanceAutosomal Recessive
Gene NameTGFBI
Chromosomal Location5q31.1
Nucleotide AccessionNC_000005.10 (2052 nt)
Protein AccessionNP_000349 (683 aa )
Genecards LinkView TGFBI gene at Genecards
Uniprot LinkQ15582
KEGG LinkView TGFBI gene at KEGG
PDB Link1X3B
Entrez Link7045
OMIM Link601692
Mode of InheritanceAutosomal Dominant
Gene NameGUCY2D
Chromosomal Location17p13.1
Nucleotide AccessionNC_000017.11 (3312 nt)
Protein AccessionNP_000171 (1103 aa)
Genecards LinkView GUCY2D gene at Genecards
Uniprot LinkQ02846
KEGG LinkView GUCY2D gene at KEGG
PDB Link_
Entrez Link3000
OMIM Link600179
Mode of InheritanceAutosomal Recessive
Gene NameAIPL1
Chromosomal Location17p13.2
Nucleotide AccessionNC_000017.11 (1155 nt)
Protein AccessionNP_055151 (384 aa)
Genecards LinkView AIPL1 gene at Genecards
Uniprot LinkF1T0B6
KEGG LinkView AIPL1 gene at KEGG
PDB Link5U9A
Entrez Link23746
OMIM Link604392
Mode of InheritanceAutosomal Recessive
Gene NameLCA5
Chromosomal Location6q14.1
Nucleotide AccessionNC_000006.12 (2094 nt)
Protein AccessionNP_001116241 (697 aa)
Genecards LinkView LCA5 gene at Genecards
Uniprot LinkA0A384MDJ7
KEGG LinkView LCA5 gene at KEGG
PDB Link_
Entrez Link167691
OMIM Link611408
Mode of InheritanceAutosomal Recessive
Gene NameRPGRIP1
Chromosomal Location14q11.2
Nucleotide AccessionNC_000014.9 (3861 nt)
Protein AccessionNP_065099 (1286 aa)
Genecards LinkView RPGRIP1 gene at Genecards
Uniprot LinkQ96KN7
KEGG LinkView RPGRIP1 gene at KEGG
PDB Link4QAM
Entrez Link57096
OMIM Link605446
Mode of InheritanceAutosomal Recessive
Gene NameCRX
Chromosomal Location19q13.33
Nucleotide AccessionNC_000019.10 (900 nt)
Protein AccessionNP_000545 (299 aa)
Genecards LinkView CRX gene at Genecards
Uniprot LinkO43186
KEGG LinkView CRX gene at KEGG
PDB Link_
Entrez Link1406
OMIM Link602225
Mode of InheritanceAutosomal Dominant
Gene NameCRB1
Chromosomal Location1q31.3
Nucleotide AccessionNC_000001.11 (4221 nt )
Protein AccessionNP_957705 (1406 aa)
Genecards LinkView CRB1 gene at Genecards
Uniprot LinkA0A7D6VM04
KEGG LinkView CRB1 gene at KEGG
PDB Link4UU5
Entrez Link23418
OMIM Link604210
Mode of InheritanceAutosomal Recessive
Gene NameRD3
Chromosomal Location1q32.3
Nucleotide AccessionNC_000001.11 (588 nt)
Protein AccessionNP_001158160 (195 aa)
Genecards LinkView RD3 gene at Genecards
Uniprot LinkQ7Z3Z2
KEGG LinkView RD3 gene at KEGG
PDB Link6DRF
Entrez Link343035
OMIM Link180040
Mode of InheritanceAutosomal Recessive
Gene NameRDH12
Chromosomal Location14q24.1
Nucleotide AccessionNC_000014.9 (951 nt)
Protein AccessionNP_689656 (316 aa)
Genecards LinkView RDH12 gene at Genecards
Uniprot LinkQ96NR8
KEGG LinkView RDH12 gene at KEGG
PDB Link_
Entrez Link145226
OMIM Link 608830
Mode of InheritanceAD/AR
Gene NameCEP290
Chromosomal Location12q21.32
Nucleotide AccessionNC_000012.12 (7440 nt)
Protein AccessionNP_079390 (2479 aa)
Genecards LinkView CEP290 gene at Genecards
Uniprot LinkO15078
KEGG LinkView CEP290 gene at KEGG
PDB Link_
Entrez Link80184
OMIM Link610142
Mode of InheritanceAutosomal Recessive
Gene NameHPRT1
Chromosomal LocationXq26.2-q26.3
Nucleotide AccessionNC_000023 (657 nt)
Protein AccessionNP_000185 (218 aa)
Genecards LinkView HPRT1 gene at Genecards
Uniprot LinkP00492
KEGG LinkView HPRT1 gene at KEGG
PDB Link1BZY
Entrez Link3251
OMIM Link308000
Mode of InheritanceX-Linked Recessive
Gene NameITGB2
Chromosomal Location21q22.3
Nucleotide AccessionNC_000021.9 (2310 nt)
Protein AccessionNP_000202 (769 aa)
Genecards LinkView ITGB2 gene at Genecards
Uniprot LinkP05107
KEGG LinkView ITGB2 gene at KEGG
PDB Link1L3Y
Entrez Link3689
OMIM Link600065
Mode of InheritanceAutosomal Recessive
Gene NameTUBB4A
Chromosomal Location19p13.3
Nucleotide AccessionNC_000019.10 (1335 nt)
Protein AccessionNP_001276058 (444 aa)
Genecards LinkView TUBB4A gene at Genecards
Uniprot LinkP04350
KEGG LinkView TUBB4A gene at KEGG
PDB LinkNA
Entrez Link10382
OMIM Link602662
Mode of InheritanceAutosomal Dominant
Gene NamePOLR3A
Chromosomal Location10q22.3
Nucleotide AccessionNC_000010.11 (4173 nt)
Protein AccessionNP_008986 (1390 aa)
Genecards LinkView POLR3A gene at Genecards
Uniprot LinkO14802
KEGG LinkView POLR3A gene at KEGG
PDB Link7A6H
Entrez Link11128
OMIM Link614258
Mode of InheritanceAutosomal Recessive
Gene NamePOLR1C
Chromosomal Location6p21.1
Nucleotide AccessionNC_000006.12 (1041 nt)
Protein AccessionNP_976035 (346 aa)
Genecards LinkView POLR1C gene at Genecards
Uniprot Link O15160
KEGG LinkView POLR1C gene at KEGG
PDB Link7A6H
Entrez Link 9533
OMIM Link610060
Mode of InheritanceAutosomal Recessive
Gene NameAIMP2
Chromosomal Location7p22.1
Nucleotide AccessionNC_000007.14 (963 nt)
Protein Accession NP_006294 (320 aa)
Genecards LinkView AIMP2 gene at Genecards
Uniprot LinkQ13155
KEGG LinkView AIMP2 gene at KEGG
PDB Link4DPG
Entrez Link7965
OMIM Link600859
Mode of InheritanceAutosomal Recessive
Gene NameGMPPB
Chromosomal Location3p21.31
Nucleotide AccessionNC_000003.12 (1083 nt)
Protein Accession NP_068806 ( 360 aa)
Genecards LinkView GMPPB gene at Genecards
Uniprot Link Q9Y5P6
KEGG LinkView GMPPB gene at KEGG
PDB Link7D72
Entrez Link29925
OMIM Link 615320
Mode of InheritanceAutosomal Recessive
Gene NameTCAP
Chromosomal Location17q12
Nucleotide AccessionNC_000017.11 (504 nt)
Protein AccessionNP_003664 (167 aa )
Genecards LinkView TCAP gene at Genecards
Uniprot LinkO15273
KEGG LinkView TCAP gene at KEGG
PDB Link1YA5
Entrez Link 8557
OMIM Link604488
Mode of InheritanceAutosomal Recessive
Gene NameTRIM32
Chromosomal Location9q33.1
Nucleotide AccessionNC_000009.12 (1962 nt )
Protein AccessionNP_001093149 (653 aa)
Genecards LinkView TRIM32 gene at Genecards
Uniprot LinkQ13049
KEGG LinkView TRIM32 gene at KEGG
PDB Link2CT2
Entrez Link22954
OMIM Link602290
Mode of InheritanceAutosomal Recessive
Gene NameGMPPB
Chromosomal Location3p21.31
Nucleotide AccessionNC_000003.12 (1083 nt)
Protein Accession NP_068806 ( 360 aa)
Genecards LinkView GMPPB gene at Genecards
Uniprot Link Q9Y5P6
KEGG LinkView GMPPB gene at KEGG
PDB Link7D72
Entrez Link29925
OMIM Link 615320
Mode of InheritanceAutosomal Recessive
Gene NameBSCL2
Chromosomal Location11q12.3
Nucleotide AccessionNC_000011.10 (1197 nt)
Protein AccessionNP_116056 ( 398 aa)
Genecards LinkView BSCL2 gene at Genecards
Uniprot Link Q96G97
KEGG LinkView BSCL2 gene at KEGG
PDB Link6DS5
Entrez Link26580
OMIM Link 606158
Mode of InheritanceAutosomal Recessive
Gene NameSCN5A
Chromosomal Location3p22.2
Nucleotide AccessionNC_000003.12 (6051 nt)
Protein AccessionNP_001092874 (2016 aa)
Genecards LinkView SCN5A gene at Genecards
Uniprot LinkQ14524
KEGG LinkView SCN5A gene at KEGG
PDB Link
Entrez Link6331
OMIM Link603830
Mode of InheritanceAutosomal Dominant
Gene NameBCKDHA
Chromosomal Location19q13.2
Nucleotide AccessionNC_000019.10 (1338 nt)
Protein AccessionNP_000700.1 (445 aa)
Genecards LinkView BCKDHA gene at Genecards
Uniprot LinkP12694
KEGG LinkView BCKDHA gene at KEGG
PDB Link1DTW
Entrez Link593
OMIM Link608348
Mode of InheritanceAutosomal Recessive
Gene NameBCKDHB
Chromosomal Location6q14.1
Nucleotide Accession NC_000006.12 (1179 nt )
Protein AccessionNP_000047.1 (392 aa)
Genecards LinkView BCKDHB gene at Genecards
Uniprot LinkP21953
KEGG LinkView BCKDHB gene at KEGG
PDB Link1DTW
Entrez Link594
OMIM Link 248611
Mode of InheritanceAutosomal Recessive
Gene NameDBT
Chromosomal Location1p21.2
Nucleotide AccessionNC_000001.11 (1449 nt )
Protein AccessionNP_001909.4 (482 aa)
Genecards LinkView DBT gene at Genecards
Uniprot LinkP11182
KEGG LinkView DBT gene at KEGG
PDB Link1K8M
Entrez Link1629
OMIM Link248610
Mode of InheritanceAutosomal Recessive
Gene NameFBN1
Chromosomal Location15q21.1
Nucleotide AccessionNC_000015.10 ( 8616 nt)
Protein Accession NP_000129 (2871 aa)
Genecards LinkView FBN1 gene at Genecards
Uniprot LinkP35555
KEGG LinkView FBN1 gene at KEGG
PDB Link1APJ
Entrez Link 2200
OMIM Link134797
Mode of InheritanceAutosomal Dominant
Gene NameARSB
Chromosomal Location5q14.1
Nucleotide AccessionNC_000005.10 ( 1602 nt)
Protein AccessionNP_000037 ( 533 aa)
Genecards LinkView ARSB gene at Genecards
Uniprot LinkP15848
KEGG LinkView ARSB gene at KEGG
PDB Link1FSU
Entrez Link 411
OMIM Link611542
Mode of InheritanceAutosomal Recessive
Gene NameMKS1
Chromosomal Location17q22
Nucleotide AccessionNC_000017.11 (1680 nt)
Protein AccessionNP_060247.2 (559 aa)
Genecards LinkView MKS1 gene at Genecards
Uniprot LinkQ9NXB0
KEGG LinkView MKS1 gene at KEGG
PDB LinkNA
Entrez Link54903
OMIM Link609883
Mode of InheritanceAutosomal Recessive
Gene NameCEP290
Chromosomal Location12q21.32
Nucleotide AccessionNC_000012.12 (7440 nt)
Protein AccessionNP_079390.3 (2479 aa)
Genecards LinkView CEP290 gene at Genecards
Uniprot LinkO15078
KEGG LinkView CEP290 gene at KEGG
PDB LinkNA
Entrez Link80184
OMIM Link610142
Mode of InheritanceAutosomal Recessive
Gene NameCC2D2A
Chromosomal Location4p15.32
Nucleotide AccessionNC_000004.12 (4863 nt)
Protein AccessionNP_001073991.2 (1620 aa)
Genecards LinkView CC2D2A gene at Genecards
Uniprot LinkQ9P2K1
KEGG LinkView CC2D2A gene at KEGG
PDB LinkNA
Entrez Link57545
OMIM Link612013
Mode of InheritanceAutosomal Recessive
Gene NameB9D2
Chromosomal Location19q13.2
Nucleotide AccessionNC_000019.10 (528 nt)
Protein Accession NP_085055.2 (175 aa)
Genecards LinkView B9D2 gene at Genecards
Uniprot LinkQ9BPU9
KEGG LinkView B9D2 gene at KEGG
PDB LinkNA
Entrez Link80776
OMIM Link611951
Mode of InheritanceAutosomal Recessive
Gene NameTXNDC15
Chromosomal Location5q31.1
Nucleotide Accession NC_000005.10 (1083 nt )
Protein AccessionNP_078991.3 (360 aa)
Genecards LinkView TXNDC15 gene at Genecards
Uniprot LinkQ96J42
KEGG LinkView TXNDC15 gene at KEGG
PDB LinkNA
Entrez Link79770
OMIM Link617778
Mode of InheritanceAutosomal Recessive
Gene NameSLURP1
Chromosomal Location8q24.3
Nucleotide AccessionNC_000008.11 (312 nt)
Protein Accession NP_065160 (103 aa)
Genecards LinkView SLURP1 gene at Genecards
Uniprot Link P55000
KEGG LinkView SLURP1 gene at KEGG
PDB Link6ZZE
Entrez Link57152
OMIM Link606119
Mode of InheritanceAutosomal Recessive
Gene NameATP7A
Chromosomal LocationXq21.1
Nucleotide AccessionNC_00002 (4503 nt)
Protein AccessionNP_000043 (1500 aa)
Genecards LinkView ATP7A gene at Genecards
Uniprot Link Q04656
KEGG LinkView ATP7A gene at KEGG
PDB Link1AW0
Entrez Link538
OMIM Link300011
Mode of InheritanceX-linked ressesive
Gene NameARSA
Chromosomal Location22q13.33
Nucleotide AccessionNC_000022.11 ( 1530 nt)
Protein Accession NP_000478 ( 509 aa)
Genecards LinkView ARSA gene at Genecards
Uniprot LinkP15289
KEGG LinkView ARSA gene at KEGG
PDB Link1AUK
Entrez Link 410
OMIM Link607574
Mode of InheritanceAutosomal Recessive
Gene NameARSA
Chromosomal Location22q13.33
Nucleotide AccessionNC_000022.11 (1530 nt)
Protein AccessionNP_000478.3 (509 aa)
Genecards LinkView ARSA gene at Genecards
Uniprot LinkP15289
KEGG LinkView ARSA gene at KEGG
PDB Link1AUK
Entrez Link410
OMIM Link607574
Mode of InheritanceAutosomal Recessive
Gene NameLRRK1
Chromosomal Location15q26.3
Nucleotide AccessionNC_000015.10 (6048 nt)
Protein AccessionNP_078928 (2015 aa)
Genecards LinkView LRRK1 gene at Genecards
Uniprot LinkQ38SD2
KEGG LinkView LRRK1 gene at KEGG
PDB LinkNA
Entrez Link79705
OMIM Link610986
Mode of InheritanceAutosomal Recessive
Gene NameTRPV4
Chromosomal Location TRPV4
Nucleotide AccessionNC_000012.12 (2616 nt)
Protein AccessionNP_067638 (871 aa)
Genecards LinkView TRPV4 gene at Genecards
Uniprot Link Q9HBA0
KEGG LinkView TRPV4 gene at KEGG
PDB Link4DX1
Entrez Link 59341
OMIM Link605427
Mode of Inheritanceautosomal dominant
Gene NameMMAA
Chromosomal Location4q31.21
Nucleotide AccessionNC_000004.12 (1257 nt)
Protein AccessionNP_758454 (418 aa)
Genecards LinkView MMAA gene at Genecards
Uniprot LinkQ8IVH4
KEGG LinkView MMAA gene at KEGG
PDB Link2WWW
Entrez Link166785
OMIM Link607481
Mode of InheritanceAutosomal Recessive
Gene NameMMAB
Chromosomal Location12q24.11
Nucleotide AccessionNC_000012.12 (753 nt)
Protein Accession NP_443077 (250 aa)
Genecards LinkView MMAB gene at Genecards
Uniprot LinkQ96EY8
KEGG LinkView MMAB gene at KEGG
PDB Link2IDX
Entrez Link326625
OMIM Link607568
Mode of InheritanceAutosomal Recessive
Gene NameLTBP2
Chromosomal Location14q24.3
Nucleotide AccessionNC_000014 (5466 nt)
Protein AccessionNP_000419 (1821 aa)
Genecards LinkView LTBP2 gene at Genecards
Uniprot LinkQ14767
KEGG LinkView LTBP2 gene at KEGG
PDB LinkNA
Entrez Link4053
OMIM Link602091
Mode of InheritanceAutosomal Resessive
Gene NameCACNA1A
Chromosomal Location19p13.13
Nucleotide AccessionNC_000019.10 (7521 nt)
Protein AccessionNP_001120694 (2506 aa)
Genecards LinkView CACNA1A gene at Genecards
Uniprot LinkO00555
KEGG LinkView CACNA1A gene at KEGG
PDB Link3BXK
Entrez Link773
OMIM Link601011
Mode of InheritanceAutosomal Dominant
Gene NameLYRM7
Chromosomal Location5q23.3-q31.1
Nucleotide AccessionNC_000005.10 (315 nt)
Protein AccessionNP_859056 (104 aa)
Genecards LinkView LYRM7 gene at Genecards
Uniprot LinkQ5U5X0
KEGG LinkView LYRM7 gene at KEGG
PDB LinkNA
Entrez Link90624
OMIM Link615831
Mode of InheritanceAutosomal Recessive
Gene NameTYMP
Chromosomal Location22q13.33
Nucleotide AccessionNC_000022.11 ( 1449 nt)
Protein Accession NP_001107227 (482 aa)
Genecards LinkView TYMP gene at Genecards
Uniprot LinkP19971
KEGG LinkView TYMP gene at KEGG
PDB Link 1UOU
Entrez Link1890
OMIM Link131222
Mode of InheritanceAutosomal Recessive
Gene NameHNF4A
Chromosomal Location20q13.12
Nucleotide AccessionNC_000020.11 (1425 nt)
Protein AccessionNP_000448 (474 aa)
Genecards LinkView HNF4A gene at Genecards
Uniprot LinkP41235
KEGG LinkView HNF4A gene at KEGG
PDB Link1PZL
Entrez Link3172
OMIM Link600281
Mode of InheritanceAutosomal Dominant
Gene NameGCK
Chromosomal Location7p13
Nucleotide AccessionNC_000007.14 (1398 nt)
Protein AccessionNP_000153 (465 aa)
Genecards LinkView GCK gene at Genecards
Uniprot LinkP35557
KEGG LinkView GCK gene at KEGG
PDB Link1V4S
Entrez Link2645
OMIM Link138079
Mode of InheritanceAutosomal Dominant
Gene NameHNF1A
Chromosomal Location12q24.31
Nucleotide AccessionNC_000012.12 (1896 nt)
Protein AccessionNP_000536 (631 aa)
Genecards LinkView HNF1A gene at Genecards
Uniprot LinkP20823
KEGG LinkView HNF1A gene at KEGG
PDB Link1IC8
Entrez Link6927
OMIM Link142410
Mode of InheritanceAutosomal Dominant
Gene NamePDX1
Chromosomal Location13q12.2
Nucleotide AccessionNC_000013.11 (852 nt)
Protein AccessionNP_000200 (283 aa)
Genecards LinkView PDX1 gene at Genecards
Uniprot LinkP52945
KEGG LinkView PDX1 gene at KEGG
PDB Link6F8F
Entrez Link3651
OMIM Link600733
Mode of InheritanceAutosomal Dominant
Gene NameNEUROD1
Chromosomal Location2q31.3
Nucleotide AccessionNC_000002.12 (1071 nt)
Protein AccessionNP_002491 (356 aa)
Genecards LinkView NEUROD1 gene at Genecards
Uniprot LinkQ13562
KEGG LinkView NEUROD1 gene at KEGG
PDB LinkNA
Entrez Link4760
OMIM Link601724
Mode of InheritanceAutosomal Dominant
Gene NamePAX4
Chromosomal Location7q32.1
Nucleotide AccessionNC_000007.14 (1056 nt)
Protein AccessionNP_001353039 (351 aa)
Genecards LinkView PAX4 gene at Genecards
Uniprot LinkA0A1W2PPX4
KEGG LinkView PAX4 gene at KEGG
PDB LinkNA
Entrez Link5078
OMIM Link167413
Mode of InheritanceAutosomal Dominant
Gene NameINS
Chromosomal Location11p15.5
Nucleotide AccessionNC_000011.10 (333 nt)
Protein AccessionNP_000198 (110 aa)
Genecards LinkView INS gene at Genecards
Uniprot Link P01308
KEGG LinkView INS gene at KEGG
PDB Link1A7F
Entrez Link3630
OMIM Link176730
Mode of InheritanceAutosomal Dominant
Gene NameGALNS
Chromosomal Location16q24.3
Nucleotide AccessionNC_000016.10 (1569 nt)
Protein AccessionNP_000503 (522 aa)
Genecards LinkView GALNS gene at Genecards
Uniprot LinkP34059
KEGG LinkView GALNS gene at KEGG
PDB Link4FDI
Entrez Link2588
OMIM Link612222
Mode of InheritanceAutosomal Recessive
Gene NameNLRP3
Chromosomal Location1q44
Nucleotide AccessionNC_000001.11 (3111 nt)
Protein AccessionNP_004886 (1036 aa)
Genecards LinkView NLRP3 gene at Genecards
Uniprot LinkQ96P20
KEGG LinkView NLRP3 gene at KEGG
PDB Link2NAQ
Entrez Link114548
OMIM Link606416
Mode of InheritanceAutosomal Dominant
Gene NameMCOLN1
Chromosomal Location19p13.2
Nucleotide AccessionNC_000019.10 (1743 nt)
Protein AccessionNP_065394 (580 aa)
Genecards LinkView MCOLN1 gene at Genecards
Uniprot LinkQ9GZU1
KEGG LinkView MCOLN1 gene at KEGG
PDB Link5TJA
Entrez Link57192
OMIM Link605248
Mode of InheritanceAutosomal Recessive
Gene NameGALNS
Chromosomal Location16q24.3
Nucleotide AccessionNC_000016.10 (1569 nt)
Protein AccessionNP_000503 (522 aa)
Genecards LinkView GALNS gene at Genecards
Uniprot LinkP34059
KEGG LinkView GALNS gene at KEGG
PDB Link4FDI
Entrez Link2588
OMIM Link612222
Mode of InheritanceAutosomal Recessive
Gene NameIDUA
Chromosomal Location4p16.3
Nucleotide AccessionNC_000004.12 (1962 nt)
Protein Accession NP_000194 (653 aa)
Genecards LinkView IDUA gene at Genecards
Uniprot LinkP35475
KEGG LinkView IDUA gene at KEGG
PDB Link3W81
Entrez Link 3425
OMIM Link252800
Mode of InheritanceAutosomal Recessive
Gene NameIDUA
Chromosomal Location4p16.3
Nucleotide AccessionNC_000004.12 (1962 nt)
Protein Accession NP_000194 (653 aa)
Genecards LinkView IDUA gene at Genecards
Uniprot LinkP35475
KEGG LinkView IDUA gene at KEGG
PDB Link3W81
Entrez Link 3425
OMIM Link252800
Mode of InheritanceAutosomal Recessive
Gene NameIDS
Chromosomal LocationXq28
Nucleotide AccessionNC_000023 (1653 nt)
Protein Accession NP_000193 (550 aa)
Genecards LinkView IDS gene at Genecards
Uniprot LinkP22304
KEGG LinkView IDS gene at KEGG
PDB Link5FQL
Entrez Link3423
OMIM Link300823
Mode of InheritanceX-Linked Recessive
Gene NameSGSH
Chromosomal Location17q25.3
Nucleotide AccessionNC_000017.11 (1509 nt)
Protein AccessionNP_000190 (502 aa)
Genecards LinkView SGSH gene at Genecards
Uniprot LinkP51688
KEGG LinkView SGSH gene at KEGG
PDB Link4MHX
Entrez Link6448
OMIM Link252900
Mode of InheritanceAutosomal Recessive
Gene NameARSB
Chromosomal Location5q14.1
Nucleotide AccessionNC_000005.10 (1602 nt)
Protein AccessionNP_000037 (533 aa)
Genecards LinkView ARSB gene at Genecards
Uniprot LinkP15848
KEGG LinkView ARSB gene at KEGG
PDB Link1FSU
Entrez Link411
OMIM Link253200
Mode of InheritanceAutosomal Recessive
Gene NameMEN1
Chromosomal Location11q13.1
Nucleotide AccessionNC_000011.10 (1848 nt)
Protein AccessionNP_000235 (615 aa)
Genecards LinkView MEN1 gene at Genecards
Uniprot Link O00255
KEGG LinkView MEN1 gene at KEGG
PDB Link3U84
Entrez Link 4221
OMIM Link 613733
Mode of InheritanceAutosomal Dominant
Gene NameRET
Chromosomal Location10q11.21
Nucleotide AccessionNC_000010.11 (3345 nt)
Protein AccessionNP_066124 (1114 aa)
Genecards LinkView RET gene at Genecards
Uniprot LinkP07949
KEGG LinkView RET gene at KEGG
PDB Link2IVS
Entrez Link 5979
OMIM Link 164761
Mode of Inheritanceautosomal dominant
Gene NameCLCN1
Chromosomal Location7q34
Nucleotide AccessionNC_000007.14 (2967 nt)
Protein AccessionNP_000074 (988 aa)
Genecards LinkView CLCN1 gene at Genecards
Uniprot Link P35523
KEGG LinkView CLCN1 gene at KEGG
PDB Link6COY
Entrez Link 1180
OMIM Link118425
Mode of InheritanceAutosomal Recessive
Gene NameMTM1
Chromosomal LocationXq28
Nucleotide AccessionNC_000023 (1812 n)
Protein AccessionNP_000243 (603 aa)
Genecards LinkView MTM1 gene at Genecards
Uniprot LinkQ13496
KEGG LinkView MTM1 gene at KEGG
PDB LinkNA
Entrez Link4534
OMIM Link300415
Mode of InheritanceX-Linked Resessive
Gene NameLMX1B
Chromosomal Location9q33.3
Nucleotide AccessionNC_000009.12 (1209 nt)
Protein AccessionNP_001167618 (402 aa)
Genecards LinkView LMX1B gene at Genecards
Uniprot LinkO60663
KEGG LinkView LMX1B gene at KEGG
PDB LinkNA
Entrez Link4010
OMIM Link602575
Mode of InheritanceAutosomal Dominant
Gene NameNPHS1
Chromosomal Location19q13.12
Nucleotide AccessionNC_000019.10 (3726 nt)
Protein AccessionNP_004637 (1241 aa)
Genecards LinkView NPHS1 gene at Genecards
Uniprot LinkO60500
KEGG LinkView NPHS1 gene at KEGG
PDB Link4ZRT
Entrez Link4868
OMIM Link602716
Mode of InheritanceAutosomal Recessive
Gene NamePLCE1
Chromosomal Location10q23.33
Nucleotide AccessionNC_000010.11 (6909 nt )
Protein AccessionNP_057425 (2302 aa)
Genecards LinkView PLCE1 gene at Genecards
Uniprot LinkQ9P212
KEGG LinkView PLCE1 gene at KEGG
PDB Link2BYE
Entrez Link51196
OMIM Link608414
Mode of InheritanceAutosomal Recessive
Gene NameWT1
Chromosomal Location11p13
Nucleotide AccessionNC_000011.10 (1509 nt)
Protein AccessionNP_000369 (502 aa)
Genecards LinkView WT1 gene at Genecards
Uniprot LinkP19544
KEGG LinkView WT1 gene at KEGG
PDB Link1XF7
Entrez Link7490
OMIM Link607102
Mode of InheritanceAutosomal Dominant
Gene NameCOQ8B
Chromosomal Location19q13.2
Nucleotide AccessionNC_000019.10 (1635 nt)
Protein AccessionNP_079152 (544 aa)
Genecards LinkView COQ8B gene at Genecards
Uniprot LinkQ96D53
KEGG LinkView COQ8B gene at KEGG
PDB LinkNA
Entrez Link79934
OMIM Link615567
Mode of InheritanceAutosomal Recessive
Gene NameSPINK5
Chromosomal Location5q32
Nucleotide AccessionNC_000005.10 ( 3195 nt)
Protein AccessionNP_006837 (1064 aa)
Genecards LinkView SPINK5 gene at Genecards
Uniprot LinkQ9NQ38
KEGG LinkView SPINK5 gene at KEGG
PDB Link5YHN
Entrez Link11005
OMIM Link605010
Mode of InheritanceAutosomal Recessive
Gene NameNF1
Chromosomal Location17q11.2
Nucleotide AccessionNC_000017.11 (8520 nt )
Protein Accession NP_001035957 (2839 aa)
Genecards LinkView NF1 gene at Genecards
Uniprot Link P21359
KEGG LinkView NF1 gene at KEGG
PDB Link
Entrez Link4763
OMIM Link162200
Mode of InheritanceAutosomal Dominant
Gene NameNF1
Chromosomal Location17q11.2
Nucleotide AccessionNC_000017.11 (8520 nt )
Protein Accession NP_001035957 (2839 aa)
Genecards LinkView NF1 gene at Genecards
Uniprot Link P21359
KEGG LinkView NF1 gene at KEGG
PDB Link
Entrez Link4763
OMIM Link162200
Mode of InheritanceAutosomal Dominant
Gene NameELANE
Chromosomal Location 19p13.3
Nucleotide AccessionNC_000019.10 (804 nt)
Protein Accession: NP_001963 (267 aa)
Genecards LinkView ELANE gene at Genecards
Uniprot LinkP08246
KEGG LinkView ELANE gene at KEGG
PDB Link1B0F
Entrez Link1991
OMIM Link130130
Mode of InheritanceAutosomal Dominant
Gene NameJAGN1
Chromosomal Location3p25.3
Nucleotide AccessionNC_000003.12 (552 nt)
Protein Accession NP_115881 (183 aa)
Genecards LinkView JAGN1 gene at Genecards
Uniprot LinkQ8N5M9
KEGG LinkView JAGN1 gene at KEGG
PDB Link6WVD
Entrez Link84522
OMIM Link616012
Mode of InheritanceAutosomal Recessive
Gene NameNPC2
Chromosomal Location14q24.3
Nucleotide AccessionNC_000014.9 (456 nt)
Protein AccessionNP_006423 (151 aa)
Genecards LinkView NPC2 gene at Genecards
Uniprot LinkP61916
KEGG LinkView NPC2 gene at KEGG
PDB Link5KWY
Entrez Link10577
OMIM Link601015
Mode of InheritanceAD/AR
Gene NameGRM6
Chromosomal Location5q35.3
Nucleotide AccessionNC_000005.10 (2634 nt)
Protein AccessionNP_000834 (877 aa)
Genecards LinkView GRM6 gene at Genecards
Uniprot LinkO15303
KEGG LinkView GRM6 gene at KEGG
PDB LinkNA
Entrez Link2916
OMIM Link604096
Mode of InheritanceAutosomal Recessive
Gene NameTRPM1
Chromosomal Location15q13.3
Nucleotide AccessionNC_000015.10 (4812 nt)
Protein AccessionNP_002411 (1603 aa)
Genecards LinkView TRPM1 gene at Genecards
Uniprot LinkQ7Z4N2
KEGG LinkView TRPM1 gene at KEGG
PDB LinkNA
Entrez Link4308
OMIM Link603576
Mode of InheritanceAutosomal Recessive
Gene NameSLC24A1
Chromosomal Location15q22.31
Nucleotide AccessionNC_000015.10 (3300 nt)
Protein AccessionNP_004718 (1099 aa)
Genecards LinkView SLC24A1 gene at Genecards
Uniprot LinkO60721
KEGG LinkView SLC24A1 gene at KEGG
PDB LinkNA
Entrez Link9187
OMIM Link603617
Mode of InheritanceAutosomal Recessive
Gene NameGPR179
Chromosomal Location17q12
Nucleotide AccessionNC_000017.11 (7104 nt)
Protein AccessionNP_001004334 (2367 aa)
Genecards LinkView GPR179 gene at Genecards
Uniprot LinkQ6PRD1
KEGG LinkView GPR179 gene at KEGG
PDB LinkNA
Entrez Link440435
OMIM Link614515
Mode of InheritanceAutosomal Recessive
Gene NameCIAS1/NLRP3
Chromosomal Location1q44
Nucleotide AccessionNC_000001.11 (3111 nt)
Protein AccessionNP_004886 (1036 aa)
Genecards LinkView CIAS1/NLRP3 gene at Genecards
Uniprot Link Q96P20
KEGG LinkView CIAS1/NLRP3 gene at KEGG
PDB Link2NAQ
Entrez Link114548
OMIM Link606416
Mode of Inheritance autosomal dominant
Gene Name13q12
Chromosomal Location681 nt
Nucleotide AccessionNP_003995 (226 aa)
Protein Accessionhttps://www.genome.jp/entry/-f+-n+n+hsa:2706 (NC_000013)
Genecards LinkView 13q12 gene at Genecards
Uniprot Linkhsa:2706
KEGG LinkView 13q12 gene at KEGG
PDB Linkhttps://www.genome.jp/dbget-bin/get_linkdb?-t+pdb+hsa:2706
Entrez Linkhttps://www.ncbi.nlm.nih.gov/gene/2706
OMIM Linkhttps://www.omim.org/entry/220290?search=Non-syndromic%20Hearing%20Loss%20%28DFNB1A%29&highlight=%22non%20syndromic%22%20dfnb1a%20hearing%20loss%20nonsyndromic
Mode of InheritanceAutosomal Recessive
Gene NamePTPN11
Chromosomal Location12q24.13
Nucleotide AccessionNC_000012.12 (1782 nt)
Protein AccessionNP_002825 (593 aa)
Genecards LinkView PTPN11 gene at Genecards
Uniprot LinkQ06124
KEGG LinkView PTPN11 gene at KEGG
PDB Link2SHP
Entrez Link5781
OMIM Link176876
Mode of InheritanceAutosomal Dominant
Gene NameRIT1
Chromosomal Location1q22
Nucleotide AccessionNC_000001.11 (660 nt)
Protein AccessionNP_008843 (219 aa)
Genecards LinkView RIT1 gene at Genecards
Uniprot LinkQ92963
KEGG LinkView RIT1 gene at KEGG
PDB Link4KLZ
Entrez Link6016
OMIM Link609591
Mode of InheritanceAutosomal Dominant
Gene NameNDP
Chromosomal LocationXp11.3
Nucleotide AccessionNC_000023 (402 nt)
Protein AccessionNP_000257 (133 aa)
Genecards LinkView NDP gene at Genecards
Uniprot LinkQ00604
KEGG LinkView NDP gene at KEGG
PDB Link4MY2
Entrez Link4693
OMIM Link300658
Mode of InheritanceX-Linked Recessive
Gene NameGJA1
Chromosomal Location6q22.31
Nucleotide AccessionNC_000006.12 (1149 nt)
Protein Accession NP_000156 (382 aa)
Genecards LinkView GJA1 gene at Genecards
Uniprot LinkP17302
KEGG LinkView GJA1 gene at KEGG
PDB Link2LL2
Entrez Link2697
OMIM Link121014
Mode of InheritanceAutosomal Dominant
Gene NamePAX6
Chromosomal Location 11p13
Nucleotide AccessionNC__000011.10 (1269 nt)
Protein AccessionNP_000271 (422 aa)
Genecards LinkView PAX6 gene at Genecards
Uniprot LinkP26367
KEGG LinkView PAX6 gene at KEGG
PDB Link2CUE
Entrez Link5080
OMIM Link607108
Mode of InheritanceAutosomal Dominant
Gene NameOTC
Chromosomal LocationXp11.4
Nucleotide AccessionNC_000023 (1065 nt)
Protein AccessionNP_000522 (354 aa)
Genecards LinkView OTC gene at Genecards
Uniprot LinkP00480
KEGG LinkView OTC gene at KEGG
PDB Link1C9Y
Entrez Link5009
OMIM Link300461
Mode of InheritanceX-Linked Dominant
Gene NameCOL1A1
Chromosomal Location17q21.33
Nucleotide AccessionNC_000017.11 (4395 nt )
Protein Accession NP_000079 (1464 aa)
Genecards LinkView COL1A1 gene at Genecards
Uniprot LinkP02452
KEGG LinkView COL1A1 gene at KEGG
PDB Link1Q7D
Entrez Link 1277
OMIM Link120150
Mode of InheritanceAutosomal Dominant
Gene NamePPIB
Chromosomal Location15q22.31
Nucleotide AccessionNC_000015.10 (651 nt)
Protein AccessionNP_000933 (216 aa)
Genecards LinkView PPIB gene at Genecards
Uniprot LinkP23284
KEGG LinkView PPIB gene at KEGG
PDB Linkhttps://www.omim.org/entry/123841?search=PPIB&highlight=ppib#mapping
Entrez Link5479
OMIM Link123841
Mode of InheritanceAutosomal Recessive
Gene NameCRTAP
Chromosomal Location3p22.3
Nucleotide AccessionNC_000003.12 (1206 nt)
Protein AccessionNP_006362 (401 aa)
Genecards LinkView CRTAP gene at Genecards
Uniprot LinkO75718
KEGG LinkView CRTAP gene at KEGG
PDB LinkNA
Entrez Link10491
OMIM Link605497
Mode of InheritanceAutosomal Recessive
Gene NameFKBP10
Chromosomal Location17q21.2
Nucleotide AccessionNC_000017.11 (1749 nt)
Protein AccessionNP_068758 (582 aa)
Genecards LinkView FKBP10 gene at Genecards
Uniprot LinkQ96AY3
KEGG LinkView FKBP10 gene at KEGG
PDB LinkNA
Entrez Link60681
OMIM Link607063
Mode of InheritanceAutosomal Recessive
Gene NameWNT1
Chromosomal Location12q13.12
Nucleotide AccessionNC_000012.12 (1113 nt)
Protein Accession NP_005421 (370 aa)
Genecards LinkView WNT1 gene at Genecards
Uniprot LinkP04628
KEGG LinkView WNT1 gene at KEGG
PDB LinkNA
Entrez Link7471
OMIM Link164820
Mode of InheritanceAutosomal Recessive
Gene NameCA2
Chromosomal Location8q21.2
Nucleotide AccessionNC_000008.11 (783 nt)
Protein Accession NP_000058 (260 aa)
Genecards LinkView CA2 gene at Genecards
Uniprot Link P00918
KEGG LinkView CA2 gene at KEGG
PDB Link6B00
Entrez Link760
OMIM Link 611492
Mode of InheritanceAutosomal Recessive
Gene NameKRT17
Chromosomal Location17q21.2
Nucleotide AccessionNC_000017.11 (1299 nt)
Protein AccessionNP_000413 (432 aa)
Genecards LinkView KRT17 gene at Genecards
Uniprot LinkQ04695
KEGG LinkView KRT17 gene at KEGG
PDB Link_
Entrez Link3872
OMIM Link148069
Mode of InheritanceAutosomal Dominant
Gene NameKRT6A
Chromosomal Location12q13.13
Nucleotide AccessionNC_000012.12 (1695 nt)
Protein AccessionNP_005545 (564 aa)
Genecards LinkView KRT6A gene at Genecards
Uniprot LinkP02538
KEGG LinkView KRT6A gene at KEGG
PDB Link5KI0
Entrez Link3853
OMIM Link148041
Mode of InheritanceAutosomal Dominant
Gene NameTRPV3
Chromosomal Location 17p13.2
Nucleotide AccessionNC_000017.11 (2373 nt)
Protein Accession NP_659505 (790 aa)
Genecards LinkView TRPV3 gene at Genecards
Uniprot LinkQ8NET8
KEGG LinkView TRPV3 gene at KEGG
PDB Link6H9J
Entrez Link162514
OMIM Link607066
Mode of InheritanceAutosomal Dominant
Gene NameGJB2
Chromosomal Location13q12.11
Nucleotide AccessionNC_000013.11 (681 nt)
Protein Accession NP_003995 (226 aa)
Genecards LinkView GJB2 gene at Genecards
Uniprot LinkP29033
KEGG LinkView GJB2 gene at KEGG
PDB Link2ZW3
Entrez Link2706
OMIM Link121011
Mode of InheritanceAutosomal Dominant
Gene NamePANK2
Chromosomal Location20p13
Nucleotide AccessionNC_000020.11 (1713 nt)
Protein AccessionNP_705902 (570 aa)
Genecards LinkView PANK2 gene at Genecards
Uniprot LinkQ9BZ23
KEGG LinkView PANK2 gene at KEGG
PDB Link5E+26
Entrez Link80025
OMIM Link606157
Mode of InheritanceAutosomal Recessive
Gene NameSNCA
Chromosomal Location4q22.1
Nucleotide AccessionNC_000004.12 (423 nt)
Protein AccessionNP_000336 (140 aa)
Genecards LinkView SNCA gene at Genecards
Uniprot LinkP37840
KEGG LinkView SNCA gene at KEGG
PDB Link1XQ8
Entrez Link6622
OMIM Link163890
Mode of InheritanceAutosomal Dominant
Gene NamePINK1
Chromosomal Location1p36.12
Nucleotide AccessionNC_000001.11 (1746 nt)
Protein AccessionNP_115785 (581 aa)
Genecards LinkView PINK1 gene at Genecards
Uniprot LinkQ9BXM7
KEGG LinkView PINK1 gene at KEGG
PDB LinkNA
Entrez Link65018
OMIM Link608309
Mode of InheritanceAutosomal Recessive
Gene NameDJ1
Chromosomal Location1p36.23
Nucleotide AccessionNC_000001.11 (570 nt)
Protein AccessionNP_001116849 (189 aa)
Genecards LinkView DJ1 gene at Genecards
Uniprot LinkQ99497
KEGG LinkView DJ1 gene at KEGG
PDB Link1J42
Entrez Link11315
OMIM Link602533
Mode of InheritanceAutosomal Recessive
Gene NameSYNJ1
Chromosomal Location21q22.11
Nucleotide AccessionNC_000021.9 (4839 nt)
Protein AccessionNP_003886 (1612 aa)
Genecards LinkView SYNJ1 gene at Genecards
Uniprot LinkO43426
KEGG LinkView SYNJ1 gene at KEGG
PDB Link1W80
Entrez Link8867
OMIM Link604297
Mode of InheritanceAutosomal Recessive
Gene NameABCC8
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011 (4746 nt)
Protein AccessionNP_000343 (1581 aa)
Genecards LinkView ABCC8 gene at Genecards
Uniprot LinkQ09428
KEGG LinkView ABCC8 gene at KEGG
PDB Link6C3O
Entrez Link6833
OMIM Link600509
Mode of InheritanceAutosomal Dominant
Gene NameINS
Chromosomal Location11p15.5
Nucleotide AccessionNC_000011.10 (333 nt)
Protein AccessionNP_000198 (110 aa)
Genecards LinkView INS gene at Genecards
Uniprot LinkP01308
KEGG LinkView INS gene at KEGG
PDB Link1A7F
Entrez Link3630
OMIM Link176730
Mode of InheritanceAutosomal Rcessive
Gene NameKCNJ11
Chromosomal Location 11p15.1
Nucleotide AccessionNC_000011.10 (912 nt)
Protein AccessionNP_001159762 (303 aa)
Genecards LinkView KCNJ11 gene at Genecards
Uniprot LinkQ14654
KEGG LinkView KCNJ11 gene at KEGG
PDB Link6C3O
Entrez Link3767
OMIM Link 600937
Mode of InheritanceAD/AR
Gene NameABCC8
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 ( 4746 nt)
Protein AccessionNP_000343 (1581 aa)
Genecards LinkView ABCC8 gene at Genecards
Uniprot LinkQ09428
KEGG LinkView ABCC8 gene at KEGG
PDB Link 6C3O
Entrez Link6833
OMIM Link600509
Mode of InheritanceAutosomal Recessive
Gene NameATP8B1
Chromosomal Location18q21.31
Nucleotide AccessionNC_000018.10 (3756 nt)
Protein AccessionNP_005594 ( 1251 aa)
Genecards LinkView ATP8B1 gene at Genecards
Uniprot LinkO43520
KEGG LinkView ATP8B1 gene at KEGG
PDB LinkNA
Entrez Link5205
OMIM Link 602397
Mode of InheritanceAutosomal Recessive
Gene NameABCB11
Chromosomal Location2q31.1
Nucleotide AccessionNC_000002.12 (3966 nt)
Protein AccessionNP_003733 (1321 aa)
Genecards LinkView ABCB11 gene at Genecards
Uniprot LinkO95342
KEGG LinkView ABCB11 gene at KEGG
PDB Link6LR0
Entrez Link8647
OMIM Link603201
Mode of InheritanceAutosomal Recessive
Gene NameABCB4
Chromosomal Location7q21.12
Nucleotide AccessionNC_000007.14 (3861 nt)
Protein AccessionNP_061337 (1286 aa)
Genecards LinkView ABCB4 gene at Genecards
Uniprot LinkP21439
KEGG LinkView ABCB4 gene at KEGG
PDB Link6S7P
Entrez Link5244
OMIM Link171060
Mode of InheritanceAutosomal Recessive
Gene NameNR1H4
Chromosomal Location12q23.1
Nucleotide AccessionNC_000012.12 (1461 nt)
Protein AccessionNP_001193922 (486 aa)
Genecards LinkView NR1H4 gene at Genecards
Uniprot LinkQ96RI1
KEGG LinkView NR1H4 gene at KEGG
PDB Link1OSH
Entrez Link9971
OMIM Link603826
Mode of InheritanceAutosomal Recessive
Gene NamePAH
Chromosomal Location12q23.2
Nucleotide AccessionNC_000012.12 (1359 nt)
Protein AccessionNP_000268 (452 aa)
Genecards LinkView PAH gene at Genecards
Uniprot Link P00439
KEGG LinkView PAH gene at KEGG
PDB Link1J8U
Entrez Link5053
OMIM Link 612349
Mode of InheritanceAutosomal Recessive
Gene NamePLA2G6
Chromosomal Location22q13.1
Nucleotide AccessionNC_000022.11 (2421 nt)
Protein AccessionNP_003551 (806 aa)
Genecards LinkView PLA2G6 gene at Genecards
Uniprot Link O60733
KEGG LinkView PLA2G6 gene at KEGG
PDB LinkNA
Entrez Link 8398
OMIM Link603604
Mode of InheritanceAutosomal Recessive
Gene NameGAA
Chromosomal Location17q25.3
Nucleotide AccessionNC_000017.11 (2859 nt)
Protein AccessionNP_000143 ( 952 aa)
Genecards LinkView GAA gene at Genecards
Uniprot LinkP10253
KEGG LinkView GAA gene at KEGG
PDB Link5NN4
Entrez Link2548
OMIM Link606800
Mode of InheritanceAutosomal Recessive
Gene NameAMPD2
Chromosomal Location1p13.3
Nucleotide AccessionNC_000001.11 (2478 nt)
Protein AccessionNP_004028 (825 aa)
Genecards LinkView AMPD2 gene at Genecards
Uniprot LinkQ01433
KEGG LinkView AMPD2 gene at KEGG
PDB Link4NO3
Entrez Link271
OMIM Link102771
Mode of InheritanceAutosomal Recessive
Gene NameLMNA
Chromosomal Location1q22
Nucleotide AccessionNC_000001.11 (1995 nt)
Protein Accession NP_733821 ( 664 aa)
Genecards LinkView LMNA gene at Genecards
Uniprot LinkP02545
KEGG LinkView LMNA gene at KEGG
PDB Link 1IFR
Entrez Link4000
OMIM Link150330
Mode of InheritanceAutosomal Dominant
Gene NameWISP3
Chromosomal Location6q21
Nucleotide AccessionNC_000006.12 (1065 nt)
Protein Accession ( 354 aa)
Genecards LinkView WISP3 gene at Genecards
Uniprot LinkO95389
KEGG LinkView WISP3 gene at KEGG
PDB LinkNA
Entrez Link 8838
OMIM Link603400
Mode of InheritanceAutosomal Recessive
Gene NamePROC
Chromosomal Location2q14.3
Nucleotide AccessionNC_000002.12 (1386 nt)
Protein AccessionNP_000303 (461 aa)
Genecards LinkView PROC gene at Genecards
Uniprot LinkP04070
KEGG LinkView PROC gene at KEGG
PDB Link1AUT
Entrez Link5624
OMIM Link612283
Mode of InheritanceAutosomal Recessive
Gene NameProthrombin gene(F2)
Chromosomal Location11p11.2
Nucleotide AccessionNC_000011.10 (1869 nt)
Protein Accession NP_000497 (622 aa)
Genecards LinkView Prothrombin gene(F2) gene at Genecards
Uniprot LinkP00734
KEGG LinkView Prothrombin gene(F2) gene at KEGG
PDB Link5AFY
Entrez Link2147
OMIM Link176930
Mode of InheritanceAutosomal Recessive
Gene NameCTSK
Chromosomal Location1q21.3
Nucleotide AccessionNC_000001.11 ( 990 nt)
Protein AccessionNP_000387 (329 aa)
Genecards LinkView CTSK gene at Genecards
Uniprot LinkP43235
KEGG LinkView CTSK gene at KEGG
PDB Link1U9V
Entrez Link1513
OMIM Link601105
Mode of InheritanceAutosomal Recessive
Gene NameALDH7A1
Chromosomal Location 5q23.2
Nucleotide AccessionNC_000005.10 (1620 nt)
Protein AccessionNP_001173 (539 aa)
Genecards LinkView ALDH7A1 gene at Genecards
Uniprot Link P49419
KEGG LinkView ALDH7A1 gene at KEGG
PDB Link2J6L
Entrez Link501
OMIM Link107323
Mode of InheritanceAutosomal Recessive
Gene NamePKLR
Chromosomal Location 1q22
Nucleotide AccessionNC_000001.11 (1725 nt)
Protein Accession NP_000289 (574 aa)
Genecards LinkView PKLR gene at Genecards
Uniprot LinkP30613
KEGG LinkView PKLR gene at KEGG
PDB Link2VGB
Entrez Link5313
OMIM Link 609712
Mode of InheritanceAutosomal Recessive
Gene NameINSR
Chromosomal Location19p13.2
Nucleotide AccessionNC_000019.10 (4149 nt)
Protein Accession NP_000199 (1382 aa)
Genecards LinkView INSR gene at Genecards
Uniprot Link P06213
KEGG LinkView INSR gene at KEGG
PDB Link1GAG
Entrez Link 3643
OMIM Link147670
Mode of InheritanceAutosomal Recessive
Gene NameABCC8
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 (4746 nt)
Protein AccessionNP_000343.2 (1581 aa)
Genecards LinkView ABCC8 gene at Genecards
Uniprot LinkQ09428
KEGG LinkView ABCC8 gene at KEGG
PDB Link6C3O
Entrez Link6833
OMIM Link600509
Mode of InheritanceAD/AR
Gene NamePEX7
Chromosomal Location6q23.3
Nucleotide AccessionNC_000006.12 (972 nt)
Protein AccessionNP_000279 (323 aa)
Genecards LinkView PEX7 gene at Genecards
Uniprot LinkO00628
KEGG LinkView PEX7 gene at KEGG
PDB LinkNA
Entrez Link 5191
OMIM Link601757
Mode of InheritanceAutosomal Recessive
Gene NameGREB1L
Chromosomal Location18q11.1-q11.2
Nucleotide AccessionNC_000018.10 ( 5772 nt)
Protein AccessionNP_001136438 ( 1923 aa)
Genecards LinkView GREB1L gene at Genecards
Uniprot Link Q9C091
KEGG LinkView GREB1L gene at KEGG
PDB LinkNA
Entrez Link 80000
OMIM Link617782
Mode of InheritanceAutosomal Recessive
Gene NameATP6V1B1
Chromosomal Location2p13.3
Nucleotide AccessionNC_000002.12 (1542 nt)
Protein AccessionNP_001683 (513 aa)
Genecards LinkView ATP6V1B1 gene at Genecards
Uniprot LinkP15313
KEGG LinkView ATP6V1B1 gene at KEGG
PDB LinkNA
Entrez Link525
OMIM Link192132
Mode of InheritanceAutosomal Recessive
Gene NameSLC4A1
Chromosomal Location17q21.31
Nucleotide AccessionNC_000017.11 (2736 nt)
Protein AccessionNP_000333 (911 aa)
Genecards LinkView SLC4A1 gene at Genecards
Uniprot LinkP02730
KEGG LinkView SLC4A1 gene at KEGG
PDB Link1BH7
Entrez Link6521
OMIM Link109270
Mode of InheritanceAutosomal Recessive
Gene NamePRPF31
Chromosomal Location19q13.42
Nucleotide AccessionNC_000019.10 (1500 nt)
Protein AccessionNP_056444 (499 aa)
Genecards LinkView PRPF31 gene at Genecards
Uniprot LinkQ8WWY3
KEGG LinkView PRPF31 gene at KEGG
PDB Link2OZB
Entrez Link26121
OMIM Link606419
Mode of InheritanceAutosomal Dominant
Gene NameTULP1
Chromosomal Location6p21.31
Nucleotide AccessionNC_000006.12 (1629 nt)
Protein AccessionNP_003313 (542 aa)
Genecards LinkView TULP1 gene at Genecards
Uniprot LinkO00294
KEGG LinkView TULP1 gene at KEGG
PDB Link2FIM
Entrez Link7287
OMIM Link602280
Mode of InheritanceAutosomal Recessive
Gene NameABCA4
Chromosomal Location1p22.1
Nucleotide AccessionNC_000001.11 (6822 nt)
Protein AccessionNP_000341 (2273 aa)
Genecards LinkView ABCA4 gene at Genecards
Uniprot LinkP78363
KEGG LinkView ABCA4 gene at KEGG
PDB Link7E7I
Entrez Link24
OMIM Link601691
Mode of InheritanceAutosomal Recessive
Gene NameRPE65
Chromosomal Location1p31.3
Nucleotide AccessionNC_000001.11 (1602 nt)
Protein AccessionNP_000320 (533 aa)
Genecards LinkView RPE65 gene at Genecards
Uniprot LinkQ16518
KEGG LinkView RPE65 gene at KEGG
PDB LinkNA
Entrez Link6121
OMIM Link180069
Mode of InheritanceAutosomal Recessive
Gene NameEYS
Chromosomal Location6q12
Nucleotide AccessionNC_000006.12 (9498 nt)
Protein AccessionNP_001278938 (3165 aa)
Genecards LinkView EYS gene at Genecards
Uniprot LinkQ5T1H1
KEGG LinkView EYS gene at KEGG
PDB LinkNA
Entrez Link346007
OMIM Link612424
Mode of InheritanceAutosomal Recessive
Gene NameFAM161A
Chromosomal Location2p15
Nucleotide AccessionNC_000002.12 (1983 nt)
Protein AccessionNP_115556 (660 aa)
Genecards LinkView FAM161A gene at Genecards
Uniprot LinkQ3B830
KEGG LinkView FAM161A gene at KEGG
PDB LinkNA
Entrez Link84140
OMIM Link613596
Mode of InheritanceAutosomal Recessive
Gene NameMERTK
Chromosomal Location2q13
Nucleotide AccessionNC_000002.12 (3000 nt)
Protein AccessionNP_006334 (999 aa)
Genecards LinkView MERTK gene at Genecards
Uniprot LinkQ12866
KEGG LinkView MERTK gene at KEGG
PDB Link2DBJ
Entrez Link10461
OMIM Link604705
Mode of InheritanceAutosomal Recessive
Gene NameTTC8
Chromosomal Location14q31.3
Nucleotide AccessionNC_000014.9 (1596 nt)
Protein AccessionNP_001275710 (531 aa)
Genecards LinkView TTC8 gene at Genecards
Uniprot LinkQ8TAM2
KEGG LinkView TTC8 gene at KEGG
PDB LinkNA
Entrez Link123016
OMIM Link608132
Mode of InheritanceAutosomal Recessive
Gene NameAHR
Chromosomal Location7p21.1
Nucleotide AccessionNC_000007.14 (2547 nt)
Protein AccessionNP_001612 (848 aa)
Genecards LinkView AHR gene at Genecards
Uniprot LinkP35869
KEGG LinkView AHR gene at KEGG
PDB Link5NJ8
Entrez Link196
OMIM Link600253
Mode of InheritanceAutosomal Recessive
Gene NameRS1
Chromosomal Location Xp22.13
Nucleotide AccessionNC_000023.11 (675 nt)
Protein Accession NP_000321 (224 aa)
Genecards LinkView RS1 gene at Genecards
Uniprot LinkO15537
KEGG LinkView RS1 gene at KEGG
PDB Link3JD6, 5N6W
Entrez Link6247
OMIM Link300839
Mode of InheritanceAutosomal Dominant
Gene NameMECP2
Chromosomal LocationXq28
Nucleotide AccessionNC_000023 (1461 nt)
Protein AccessionNP_004983 (486 aa)
Genecards LinkView MECP2 gene at Genecards
Uniprot LinkP51608
KEGG LinkView MECP2 gene at KEGG
PDB Link1QK9
Entrez Link4204
OMIM Link300005
Mode of InheritanceX Linked Dominant
Gene NameESCO2
Chromosomal Location 8p21.1
Nucleotide AccessionNC_000008.11 (1806 nt)
Protein AccessionNP_001017420 (601 aa )
Genecards LinkView ESCO2 gene at Genecards
Uniprot Link Q56NI9
KEGG LinkView ESCO2 gene at KEGG
PDB LinkNA
Entrez Link157570
OMIM Link609353
Mode of InheritanceAutosomal Recessive
Gene NameDVL1
Chromosomal Location1p36.33
Nucleotide AccessionNC_000001.11 (2088 nt)
Protein AccessionNP_001317240 (695 aa)
Genecards LinkView DVL1 gene at Genecards
Uniprot LinkO14640
KEGG LinkView DVL1 gene at KEGG
PDB Link6LCA
Entrez Link1855
OMIM Link601365
Mode of InheritanceAutosomal Dominant
Gene NameDVL3
Chromosomal Location3q27.1
Nucleotide AccessionNC_000003.12 (2151 nt)
Protein AccessionNP_004414 (716 aa)
Genecards LinkView DVL3 gene at Genecards
Uniprot LinkQ92997
KEGG LinkView DVL3 gene at KEGG
PDB Link6V7O
Entrez Link1857
OMIM Link601368
Mode of InheritanceAutosomal Dominant
Gene NameROR2
Chromosomal Location9q22.31
Nucleotide AccessionNC_000009.12 (2832 nt)
Protein AccessionNP_004551 (943 aa)
Genecards LinkView ROR2 gene at Genecards
Uniprot LinkQ01974
KEGG LinkView ROR2 gene at KEGG
PDB Link3ZZW
Entrez Link4920
OMIM Link602337
Mode of InheritanceAutosomal Recessive
Gene NameRECQL4
Chromosomal Location8q24.3
Nucleotide AccessionNC_000008.11 (3627 nt)
Protein AccessionNP_004251 (1208 aa)
Genecards LinkView RECQL4 gene at Genecards
Uniprot LinkO94761
KEGG LinkView RECQL4 gene at KEGG
PDB Link2KMU
Entrez Link9401
OMIM Link603780
Mode of InheritanceAutosomal Recessive
Gene NameEP300
Chromosomal Location22q13.2
Nucleotide AccessionNC_000022.11 ( 7245 nt)
Protein Accession NP_001420 (2414 aa)
Genecards LinkView EP300 gene at Genecards
Uniprot Link Q09472
KEGG LinkView EP300 gene at KEGG
PDB Link1L3E
Entrez Link 2033
OMIM Link 602700
Mode of InheritanceAutosomal Dominant
Gene NameCREBBP
Chromosomal Location16p13.3
Nucleotide AccessionNC_000016.10 (7329 nt)
Protein Accession NP_004371 (2442 aa)
Genecards LinkView CREBBP gene at Genecards
Uniprot LinkQ92793
KEGG LinkView CREBBP gene at KEGG
PDB Link82 PDB
Entrez Link1387
OMIM Link600140
Mode of InheritanceAutosomal Dominant
Gene NameDCAF17
Chromosomal Location 2q31.1
Nucleotide AccessionNC_000002.12 (1563 nt)
Protein AccessionNP_079276 (520 aa)
Genecards LinkView DCAF17 gene at Genecards
Uniprot LinkQ5H9S7
KEGG LinkView DCAF17 gene at KEGG
PDB LinkNA
Entrez Link 80067
OMIM Link612515
Mode of InheritanceAutosomal Recessive
Gene NameHEXB
Chromosomal Location5q13.3
Nucleotide AccessionNC_000005.10 (1671 nt)
Protein Accession NP_000512 (556 aa)
Genecards LinkView HEXB gene at Genecards
Uniprot LinkP07686
KEGG LinkView HEXB gene at KEGG
PDB Link1NOW
Entrez Link 3074
OMIM Link606873
Mode of InheritanceAutosomal Recessive
Gene NameHSPG2
Chromosomal Location1p36.12
Nucleotide AccessionNC_000001.11 (13176 nt)
Protein AccessionNP_005520 (4391 aa)
Genecards LinkView HSPG2 gene at Genecards
Uniprot LinkP98160
KEGG LinkView HSPG2 gene at KEGG
PDB Link3SH4
Entrez Link3339
OMIM Link142461
Mode of InheritanceAutosomal Recessive
Gene NameTWIST2
Chromosomal Location 2q37.3
Nucleotide AccessionNC_000002.12 (483 nt)
Protein AccessionNP_001258822 (160 aa )
Genecards LinkView TWIST2 gene at Genecards
Uniprot LinkQ8WVJ9
KEGG LinkView TWIST2 gene at KEGG
PDB LinkNA
Entrez Link 117581
OMIM Link607556
Mode of InheritanceAutosomal Recessive
Gene NameADA
Chromosomal Location20q13.12
Nucleotide AccessionNC_000020.11 (1092 nt)
Protein AccessionNP_000013 (363 aa)
Genecards LinkView ADA gene at Genecards
Uniprot LinkP00813
KEGG LinkView ADA gene at KEGG
PDB Link3IAR
Entrez Link100
OMIM Link608958
Mode of InheritanceAutosomal Recessive
Gene NameIL2RG
Chromosomal LocationXq13.1
Nucleotide AccessionNC_000023 (1110 nt)
Protein Accession NP_000197 (369 aa)
Genecards LinkView IL2RG gene at Genecards
Uniprot Link P31785
KEGG LinkView IL2RG gene at KEGG
PDB Link2B5I
Entrez Link3561
OMIM Link308380
Mode of Inheritance X-linked recessive
Gene NameNEU1
Chromosomal Location6p21.33
Nucleotide AccessionNC_000006.12 (1248 nt)
Protein AccessionNP_000425 (415 aa)
Genecards LinkView NEU1 gene at Genecards
Uniprot LinkQ99519
KEGG LinkView NEU1 gene at KEGG
PDB LinkNA
Entrez Link4758
OMIM Link608272
Mode of InheritanceAutosomal Recessive
Gene NameNEU1
Chromosomal Location6p21.33
Nucleotide AccessionNC_000006.12 (1248 nt)
Protein AccessionNP_000425 (415 aa)
Genecards LinkView NEU1 gene at Genecards
Uniprot LinkQ99519
KEGG LinkView NEU1 gene at KEGG
PDB LinkNA
Entrez Link4758
OMIM Link608272
Mode of InheritanceAutosomal Recessive
Gene NameHBB
Chromosomal Location11p15.4
Nucleotide AccessionNC_000011.10 (444 nt)
Protein AccessionNP_000509 (147 aa)
Genecards LinkView HBB gene at Genecards
Uniprot LinkP68871
KEGG LinkView HBB gene at KEGG
PDB Link1A0U
Entrez Link3043
OMIM Link141900
Mode of InheritanceAutosomal Recessive
Gene NamePLP1
Chromosomal LocationXq22.2
Nucleotide AccessionNC_000023 (834 nt )
Protein AccessionNP_000524 (277 aa )
Genecards LinkView PLP1 gene at Genecards
Uniprot LinkP60201
KEGG LinkView PLP1 gene at KEGG
PDB Link2XPG
Entrez Link5354
OMIM Link300401
Mode of InheritanceX-Linked Recessive
Gene NameSPAST
Chromosomal Location2p22.3
Nucleotide AccessionNC_000002.12 (1851 nt)
Protein AccessionNP_055761 (616 aa)
Genecards LinkView SPAST gene at Genecards
Uniprot LinkQ9UBP0
KEGG LinkView SPAST gene at KEGG
PDB Link3EAB
Entrez Link6683
OMIM Link604277
Mode of InheritanceAutosomal Dominant
Gene NameKIF5A
Chromosomal Location12q13.3
Nucleotide AccessionNC_000012.12 (3099 nt)
Protein AccessionNP_004975 (1032 aa)
Genecards LinkView KIF5A gene at Genecards
Uniprot LinkQ12840
KEGG LinkView KIF5A gene at KEGG
PDB Link4UXT
Entrez Link3798
OMIM Link602821
Mode of InheritanceAutosomal Dominant
Gene NameSPG11
Chromosomal Location15q21.1
Nucleotide AccessionNC_000015.10 (7332 nt)
Protein AccessionNP_079413 (2443 aa)
Genecards LinkView SPG11 gene at Genecards
Uniprot LinkQ96JI7
KEGG LinkView SPG11 gene at KEGG
PDB LinkNA
Entrez Link80208
OMIM Link610844
Mode of InheritanceAutosomal Recessive
Gene NameZFYVE26
Chromosomal Location14q24.1
Nucleotide AccessionNC_000014.9 (7620 nt)
Protein AccessionNP_056161 (2539 aa)
Genecards LinkView ZFYVE26 gene at Genecards
Uniprot LinkQ68DK2
KEGG LinkView ZFYVE26 gene at KEGG
PDB LinkNA
Entrez Link23503
OMIM Link612012
Mode of InheritanceAutosomal Recessive
Gene NamePNPLA6
Chromosomal Location19p13.2
Nucleotide AccessionNC_000019.10 (4128 nt)
Protein AccessionNP_001159583 (1375 aa)
Genecards LinkView PNPLA6 gene at Genecards
Uniprot LinkQ8IY17
KEGG LinkView PNPLA6 gene at KEGG
PDB LinkNA
Entrez Link10908
OMIM Link603197
Mode of InheritanceAutosomal Recessive
Gene NameC19orf12
Chromosomal Location19q12
Nucleotide AccessionNC_000019.10 (426 nt)
Protein AccessionNP_001026896 (141 aa)
Genecards LinkView C19orf12 gene at Genecards
Uniprot LinkQ9NSK7
KEGG LinkView C19orf12 gene at KEGG
PDB LinkNA
Entrez Link83636
OMIM Link614297
Mode of InheritanceAutosomal Recessive
Gene NameGBA2
Chromosomal Location9p13.3
Nucleotide AccessionNC_000009.12 (2784 nt)
Protein AccessionNP_065995 (927 aa)
Genecards LinkView GBA2 gene at Genecards
Uniprot LinkQ9HCG7
KEGG LinkView GBA2 gene at KEGG
PDB LinkNA
Entrez Link57704
OMIM Link609471
Mode of InheritanceAutosomal Recessive
Gene NameAP4B1
Chromosomal Location1p13.2
Nucleotide AccessionNC_000001.11 (2220 nt)
Protein AccessionNP_001240781 (739 aa)
Genecards LinkView AP4B1 gene at Genecards
Uniprot LinkQ9Y6B7
KEGG LinkView AP4B1 gene at KEGG
PDB Link2MJ7
Entrez Link10717
OMIM Link607245
Mode of InheritanceAutosomal Recessive
Gene NameAP4M1
Chromosomal Location7q22.1
Nucleotide AccessionNC_000007.14 (1362 nt)
Protein AccessionNP_004713 (453 aa)
Genecards LinkView AP4M1 gene at Genecards
Uniprot Link O00189
KEGG LinkView AP4M1 gene at KEGG
PDB Link3L81
Entrez Link9179
OMIM Link602296
Mode of InheritanceAutosomal Recessive
Gene NameDDHD2
Chromosomal Location8p11.23
Nucleotide AccessionNC_000008.11 (2136 nt)
Protein AccessionNP_001157704 (711 aa)
Genecards LinkView DDHD2 gene at Genecards
Uniprot LinkO94830
KEGG LinkView DDHD2 gene at KEGG
PDB LinkNA
Entrez Link23259
OMIM Link615003
Mode of InheritanceAutosomal Recessive
Gene NameCYP2U1
Chromosomal Location4q25
Nucleotide AccessionNC_000004.12 (1635 nt )
Protein Accession NP_898898 (544 aa)
Genecards LinkView CYP2U1 gene at Genecards
Uniprot LinkQ7Z449
KEGG LinkView CYP2U1 gene at KEGG
PDB LinkNA
Entrez Link113612
OMIM Link610670
Mode of InheritanceAutosomal Recessive
Gene NameANK1
Chromosomal Location8p11.21
Nucleotide AccessionNC_000008.11 (5646 nt)
Protein AccessionNP_065209 (1881 aa)
Genecards LinkView ANK1 gene at Genecards
Uniprot LinkP16157
KEGG LinkView ANK1 gene at KEGG
PDB Link1N11
Entrez Link286
OMIM Link612641
Mode of InheritanceAD/AR
Gene NameSPTB
Chromosomal Location14q23.3
Nucleotide AccessionNC_000014.9 (6987 nt)
Protein AccessionNP_001020029 (2328 aa)
Genecards LinkView SPTB gene at Genecards
Uniprot LinkP11277
KEGG LinkView SPTB gene at KEGG
PDB Link1S35
Entrez Link6710
OMIM Link182870
Mode of InheritanceAutosomal Dominant
Gene NameSPTA1
Chromosomal Location1q23.1
Nucleotide AccessionNC_000001.11 (7260 nt)
Protein AccessionNP_003117 (2419 aa )
Genecards LinkView SPTA1 gene at Genecards
Uniprot LinkP02549
KEGG LinkView SPTA1 gene at KEGG
PDB Link1OWA
Entrez Link6708
OMIM Link182860
Mode of InheritanceAutosomal Recessive
Gene NameSLC4A1
Chromosomal Location17q21.31
Nucleotide AccessionNC_000017.11 (2736 nt)
Protein AccessionNP_000333 (911 aa)
Genecards LinkView SLC4A1 gene at Genecards
Uniprot LinkP02730
KEGG LinkView SLC4A1 gene at KEGG
PDB Link1BH7
Entrez Link6521
OMIM Link109270
Mode of InheritanceAutosomal Dominant
Gene NameIGHMBP2
Chromosomal Location11q13.3
Nucleotide AccessionNC_000011.10 (2982 nt)
Protein AccessionNP_002171 (993 aa)
Genecards LinkView IGHMBP2 gene at Genecards
Uniprot LinkP38935
KEGG LinkView IGHMBP2 gene at KEGG
PDB Link1MSZ
Entrez Link3508
OMIM Link600502
Mode of InheritanceAutosomal Recessive
Gene NamePLEKHG5
Chromosomal Location1p36.31
Nucleotide AccessionNC_000001.11 (3021 nt)
Protein AccessionNP_001036129 (1006 aa)
Genecards LinkView PLEKHG5 gene at Genecards
Uniprot LinkO94827
KEGG LinkView PLEKHG5 gene at KEGG
PDB LinkNA
Entrez Link57449
OMIM Link611101
Mode of InheritanceAutosomal Recessive
Gene NameTRAPPC2
Chromosomal LocationXp22
Nucleotide AccessionNC_000023 (423 nt)
Protein AccessionNP_001011658 (140 aa)
Genecards LinkView TRAPPC2 gene at Genecards
Uniprot LinkP0DI81
KEGG LinkView TRAPPC2 gene at KEGG
PDB LinkNA
Entrez Link6399
OMIM Link300202
Mode of InheritanceX-Linked recessive
Gene NameCOL2A1
Chromosomal Location 12q13.11
Nucleotide AccessionNC_000012.12 (4464 nt)
Protein AccessionNP_001835 (1487 aa)
Genecards LinkView COL2A1 gene at Genecards
Uniprot LinkP02458
KEGG LinkView COL2A1 gene at KEGG
PDB Link1U5M
Entrez Link1280
OMIM Link120140
Mode of InheritanceAutosomal Recessive
Gene NameCOL10A1
Chromosomal Location6q22.1
Nucleotide AccessionNC_000006.12 ( 2043 nt)
Protein AccessionNP_000484 (680 aa)
Genecards LinkView COL10A1 gene at Genecards
Uniprot LinkQ03692
KEGG LinkView COL10A1 gene at KEGG
PDB Link1GR3
Entrez Link1300
OMIM Link120110
Mode of InheritanceAutosomal Dominant
Gene NameABCA4
Chromosomal Location1p22.1
Nucleotide AccessionNC_000001.11 (6822 nt)
Protein Accession NP_000341 (2273 aa)
Genecards LinkView ABCA4 gene at Genecards
Uniprot LinkP78363
KEGG LinkView ABCA4 gene at KEGG
PDB LinkNA
Entrez Link24
OMIM Link601691
Mode of InheritanceAutosomal Dominant
Gene NameCOL2A1
Chromosomal Location12q13.11
Nucleotide AccessionNC_000012.12 (4464 nt)
Protein AccessionNP_001835 (1487 aa)
Genecards LinkView COL2A1 gene at Genecards
Uniprot LinkP02458
KEGG LinkView COL2A1 gene at KEGG
PDB Link5NIR
Entrez Link1280
OMIM Link 120140
Mode of InheritanceAutosomal Recessive
Gene NameHEXA
Chromosomal Location15q23
Nucleotide AccessionNC_000015.10 (1590 nt)
Protein AccessionNP_000511 (529 aa)
Genecards LinkView HEXA gene at Genecards
Uniprot LinkP06865
KEGG LinkView HEXA gene at KEGG
PDB Link2GJX
Entrez Link3073
OMIM Link606869
Mode of InheritanceAutosomal Recessive
Gene NameJAG1
Chromosomal Location20p12.2
Nucleotide AccessionNC_000020.11 (3657 nt)
Protein AccessionNP_000205 (1218 aa)
Genecards LinkView JAG1 gene at Genecards
Uniprot LinkP78504
KEGG LinkView JAG1 gene at KEGG
PDB Link2VJ2
Entrez Link 182
OMIM Link 601920
Mode of InheritanceAutosomal Dominant
Gene NameCUL7
Chromosomal Location6p21.1
Nucleotide AccessionNC_000006.12 (5097 nt)
Protein AccessionNP_055595 (1698 aa)
Genecards LinkView CUL7 gene at Genecards
Uniprot LinkQ14999
KEGG LinkView CUL7 gene at KEGG
PDB Link2JNG
Entrez Link9820
OMIM Link 609577
Mode of InheritanceAutosomal Recessive
Gene NameOBSL1
Chromosomal Location2q35
Nucleotide AccessionNC_000002.12 (5691 nt)
Protein AccessionNP_056126 (1896 aa)
Genecards LinkView OBSL1 gene at Genecards
Uniprot LinkO75147
KEGG LinkView OBSL1 gene at KEGG
PDB Link2CPC
Entrez Link23363
OMIM Link610991
Mode of InheritanceAutosomal Recessive
Gene NameADAMTS13
Chromosomal Location9q34.2
Nucleotide AccessionNC_000009.12 (4284 nt)
Protein AccessionNP_620594 (1427 aa)
Genecards LinkView ADAMTS13 gene at Genecards
Uniprot LinkQ76XL8
KEGG LinkView ADAMTS13 gene at KEGG
PDB Link3GHM
Entrez Link11093
OMIM Link604134
Mode of InheritanceAutosomal Recessive
Gene NameMSX1
Chromosomal Location4p16.2
Nucleotide AccessionNC_000004.12 (912 nt)
Protein Accession NP_002439 (303 aa)
Genecards LinkView MSX1 gene at Genecards
Uniprot LinkP28360
KEGG LinkView MSX1 gene at KEGG
PDB LinkNA
Entrez Link4487
OMIM Link106600
Mode of InheritanceAutosomal Dominant
Gene NamePAX9
Chromosomal Location14q13.3
Nucleotide AccessionNC_000014.9 (1026 nt)
Protein AccessionNP_006185 (341 aa)
Genecards LinkView PAX9 gene at Genecards
Uniprot LinkP55771
KEGG LinkView PAX9 gene at KEGG
PDB LinkNA
Entrez Link5083
OMIM Link167416
Mode of InheritanceAutosomal Dominant
Gene NameGALNT3
Chromosomal Location2q24.3
Nucleotide AccessionNC_000002.12 (1902 nt)
Protein AccessionNP_004473 (633 aa)
Genecards LinkView GALNT3 gene at Genecards
Uniprot LinkQ14435
KEGG LinkView GALNT3 gene at KEGG
PDB LinkNA
Entrez Link2591
OMIM Link601756
Mode of InheritanceAutosomal Recessive
Gene NameFAH
Chromosomal Location15q25.1
Nucleotide AccessionNC_000015.10 ( 1260 nt)
Protein Accession NP_000128 (419 aa)
Genecards LinkView FAH gene at Genecards
Uniprot LinkP16930
KEGG LinkView FAH gene at KEGG
PDB LinkNA
Entrez Link 2184
OMIM Link613871
Mode of InheritanceAutosomal Recessive
Gene NameAPRT
Chromosomal Location16q24.3
Nucleotide AccessionNC_000016.10 (543 nt)
Protein AccessionNP_000476 (180 aa)
Genecards LinkView APRT gene at Genecards
Uniprot LinkP07741
KEGG LinkView APRT gene at KEGG
PDB Link1ORE
Entrez Link353
OMIM Link 102600
Mode of InheritanceAutosomal Recessive
Gene NameMYO7A
Chromosomal Location
Nucleotide AccessionNC_000011.10 (6648 nt)
Protein AccessionNP_000251 (2215 aa)
Genecards LinkView MYO7A gene at Genecards
Uniprot LinkQ13402
KEGG LinkView MYO7A gene at KEGG
PDB Link5MV9
Entrez Link4647
OMIM Link276903
Mode of InheritanceAutosomal Recessive
Gene NameFVL
Chromosomal Location1q24.2
Nucleotide AccessionNC_000001.11 (6675 nt)
Protein AccessionNP_000121 (2224 aa)
Genecards LinkView FVL gene at Genecards
Uniprot LinkP12259
KEGG LinkView FVL gene at KEGG
PDB Link3P6Z
Entrez Link2153
OMIM Link612309
Mode of InheritanceAutosomal Dominant
Gene NameCYP27B1
Chromosomal Location12q14.1
Nucleotide AccessionNC_000012.12 (1527 nt)
Protein AccessionNP_000776 (508 aa)
Genecards LinkView CYP27B1 gene at Genecards
Uniprot LinkO15528
KEGG LinkView CYP27B1 gene at KEGG
PDB LinkNA
Entrez Link 1594
OMIM Link609506
Mode of InheritanceAutosomal Recessive
Gene NameVHL
Chromosomal Location3p25.3
Nucleotide AccessionNC_000003.12 (642 nt)
Protein Accession NP_000542 (213 aa)
Genecards LinkView VHL gene at Genecards
Uniprot LinkP40337
KEGG LinkView VHL gene at KEGG
PDB Link 1LQB
Entrez Link7428
OMIM Link608537
Mode of InheritanceAutosomal Dominant
Gene NameVWF
Chromosomal Location12p13.31
Nucleotide AccessionNC_000012.12 ( 8442 nt)
Protein Accession NP_000543 (2813 aa)
Genecards LinkView VWF gene at Genecards
Uniprot LinkP04275
KEGG LinkView VWF gene at KEGG
PDB Link5BV8
Entrez Link7450
OMIM Link613160
Mode of InheritanceAutosomal Dominant
Gene NameEDN3
Chromosomal Location20q13.32
Nucleotide AccessionNC_000020.11 ( 717 nt)
Protein Accession NP_996917 ( 238 aa )
Genecards LinkView EDN3 gene at Genecards
Uniprot LinkP14138
KEGG LinkView EDN3 gene at KEGG
PDB Link6IGK
Entrez Link 1908
OMIM Link131242
Mode of InheritanceAutosomal Recessive
Gene NameMITF
Chromosomal Location3p13
Nucleotide AccessionNC_000003.12 (1563 nt)
Protein AccessionNP_937802 (520 aa)
Genecards LinkView MITF gene at Genecards
Uniprot LinkO75030
KEGG LinkView MITF gene at KEGG
PDB Link4C7N
Entrez Link4286
OMIM Link156845
Mode of InheritanceAutosomal Dominant
Gene NameRAB3GAP1
Chromosomal Location2q21.3
Nucleotide AccessionNC_000002.12 (2946 nt)
Protein AccessionNP_036365 (981 aa)
Genecards LinkView RAB3GAP1 gene at Genecards
Uniprot LinkQ15042
KEGG LinkView RAB3GAP1 gene at KEGG
PDB LinkNA
Entrez Link22930
OMIM Link602536
Mode of InheritanceAutosomal Recessive
Gene NameADAMTS17
Chromosomal Location15q26.3
Nucleotide AccessionNC_000015.10 (3288 nt)
Protein AccessionNP_620688 (1095 aa)
Genecards LinkView ADAMTS17 gene at Genecards
Uniprot LinkQ8TE56
KEGG LinkView ADAMTS17 gene at KEGG
PDB LinkNA
Entrez Link170691
OMIM Link607511
Mode of InheritanceAutosomal Recessive
Gene NameRECQL2/WRN
Chromosomal Location8p12
Nucleotide AccessionNC_000008.11 (4299 nt)
Protein AccessionNP_000544 (1432 aa)
Genecards LinkView RECQL2/WRN gene at Genecards
Uniprot LinkQ14191
KEGG LinkView RECQL2/WRN gene at KEGG
PDB Link2AXL
Entrez Link7486
OMIM Link604611
Mode of InheritanceAutosomal Recessive
Gene NamePOLR3A
Chromosomal Location 10q22.3
Nucleotide AccessionNC_000010.11 (4173 nt)
Protein Accession NP_008986 (1390 aa)
Genecards LinkView POLR3A gene at Genecards
Uniprot Link O14802
KEGG LinkView POLR3A gene at KEGG
PDB Link7A6H
Entrez Link 11128
OMIM Link614258
Mode of InheritanceAutosomal Recessive
Gene NameCYP27A1
Chromosomal Location2q35
Nucleotide AccessionNC_000002.12 ( 1596 nt)
Protein AccessionNP_000775 (531 aa)
Genecards LinkView CYP27A1 gene at Genecards
Uniprot LinkQ02318
KEGG LinkView CYP27A1 gene at KEGG
PDB Link1MFX
Entrez Link 1593
OMIM Link606530
Mode of InheritanceAutosomal Recessive
Gene NamePHEX
Chromosomal Location Xp22
Nucleotide AccessionNC_000023. (2250 nt)
Protein AccessionNP_000435 (749 aa)
Genecards LinkView PHEX gene at Genecards
Uniprot LinkP78562
KEGG LinkView PHEX gene at KEGG
PDB LinkNA
Entrez Link5251
OMIM Link300550
Mode of InheritanceX-linked dominant
Gene NameSERAC1
Chromosomal Location6q25.3
Nucleotide AccessionNC_000006.12 (1965 nt)
Protein Accession NP_116250 (654 aa)
Genecards LinkView SERAC1 gene at Genecards
Uniprot LinkQ96JX3
KEGG LinkView SERAC1 gene at KEGG
PDB LinkNA
Entrez Link 84947
OMIM Link614725
Mode of InheritanceAutosomal Recessive
Gene NameHTRA2
Chromosomal Location2p13.1
Nucleotide AccessionNC_000002.12 (1377 nt)
Protein AccessionNP_037379 ( 458 aa)
Genecards LinkView HTRA2 gene at Genecards
Uniprot Link O43464
KEGG LinkView HTRA2 gene at KEGG
PDB Link1LCY
Entrez Link27429
OMIM Link 606441
Mode of InheritanceAutosomal Recessive
Gene NameVPS13A
Chromosomal Location9q21.2
Nucleotide AccessionNC_000009.12 (9525 nt)
Protein Accession NP_150648 (3174 aa)
Genecards LinkView VPS13A gene at Genecards
Uniprot LinkQ96RL7
KEGG LinkView VPS13A gene at KEGG
PDB LinkNA
Entrez Link23230
OMIM Link605978
Mode of InheritanceAutosomal Recessive
Gene NameAAAS
Chromosomal Location12q13.13
Nucleotide AccessionNC_000012.12 (1641 nt)
Protein AccessionNP_056480 (546 aa)
Genecards LinkView AAAS gene at Genecards
Uniprot Link Q9NRG9
KEGG LinkView AAAS gene at KEGG
PDB LinkNA
Entrez Link8086
OMIM Link 605378
Mode of InheritanceAutosomal Recessive
Gene NameTRIP 11
Chromosomal Location 14q32.12
Nucleotide AccessionNC_000014.9 (5940 nt)
Protein AccessionNP_004230 (1979 aa)
Genecards LinkView TRIP 11 gene at Genecards
Uniprot Link Q15643
KEGG LinkView TRIP 11 gene at KEGG
PDB LinkNA
Entrez Link9321
OMIM Link604505
Mode of InheritanceAutosomal Recessive
Gene NameGPI
Chromosomal Location19q13.11
Nucleotide AccessionNC_000019.10 (1677 nt)
Protein Accession NP_000166 (558 aa)
Genecards LinkView GPI gene at Genecards
Uniprot LinkP06744
KEGG LinkView GPI gene at KEGG
PDB Link1JLH
Entrez Link2821
OMIM Link172400
Mode of InheritanceAutosomal Recessive
Gene NameGLI3
Chromosomal Location7p14.1
Nucleotide AccessionNC_000007.14 ( 4743 nt)
Protein Accession NP_000159 (1580 aa)
Genecards LinkView GLI3 gene at Genecards
Uniprot Link P10071
KEGG LinkView GLI3 gene at KEGG
PDB LinkNA
Entrez Link 2737
OMIM Link165240
Mode of InheritanceAutosomal Dominant
Gene NameNPR2
Chromosomal Location9p13.3
Nucleotide AccessionNC_000009.12 (3144 nt )
Protein AccessionNP_003986 (1047 aa)
Genecards LinkView NPR2 gene at Genecards
Uniprot LinkP20594
KEGG LinkView NPR2 gene at KEGG
PDB LinkNA
Entrez Link4882
OMIM Link108961
Mode of InheritanceAutosomal Recessive
Gene NamePRKG2
Chromosomal Location4q21.21
Nucleotide AccessionNC_000004.12 (2289 nt)
Protein AccessionNP_006250 (762 aa)
Genecards LinkView PRKG2 gene at Genecards
Uniprot LinkQ13237
KEGG LinkView PRKG2 gene at KEGG
PDB Link5BV6
Entrez Link5593
OMIM Link601591
Mode of InheritanceAutosomal Recessive
Gene NameGH1
Chromosomal Location17q23.3
Nucleotide AccessionNC_000017.11 (654 nt)
Protein Accession NP_000506 ( 217 aa)
Genecards LinkView GH1 gene at Genecards
Uniprot LinkP01241
KEGG LinkView GH1 gene at KEGG
PDB Link1AXI
Entrez Link 2688
OMIM Link262400
Mode of InheritanceAutosomal Recessive
Gene NamePAX6
Chromosomal Location11p13
Nucleotide AccessionNC_000011.10 (1269 nt)
Protein Accession (422 aa)
Genecards LinkView PAX6 gene at Genecards
Uniprot LinkP26367
KEGG LinkView PAX6 gene at KEGG
PDB Link6PAX
Entrez Link5080
OMIM Link607108
Mode of InheritanceAutosomal Dominant
Gene NamePKP2
Chromosomal Location12p11.21
Nucleotide AccessionNC_000012.12 ( 2646 nt )
Protein Accession NP_004563 (881 aa)
Genecards LinkView PKP2 gene at Genecards
Uniprot LinkQ99959
KEGG LinkView PKP2 gene at KEGG
PDB Link3TT9
Entrez Link5318
OMIM Link602861
Mode of InheritanceAutosomal Dominant
Gene NameSLC4A11
Chromosomal Location20p13
Nucleotide AccessionNC_000020.11 (2676 nt)
Protein Accession NP_114423 (891 aa)
Genecards LinkView SLC4A11 gene at Genecards
Uniprot LinkQ8NBS3
KEGG LinkView SLC4A11 gene at KEGG
PDB LinkNA
Entrez Link83959
OMIM Link610206
Mode of InheritanceAutosomal Recessive
Gene NameCTSC
Chromosomal Location11q14.2
Nucleotide AccessionNC_000011.10 (1392 nt)
Protein AccessionNP_001805 (463 aa)
Genecards LinkView CTSC gene at Genecards
Uniprot LinkP53634
KEGG LinkView CTSC gene at KEGG
PDB Link1K3B
Entrez Link1075
OMIM Link602365
Mode of InheritanceAutosomal Recessive
Gene NameSLC6A5
Chromosomal Location11p15.1
Nucleotide AccessionNC_000011.10 (2394 nt)
Protein AccessionNP_004202 (797 aa)
Genecards LinkView SLC6A5 gene at Genecards
Uniprot Link Q9Y345
KEGG LinkView SLC6A5 gene at KEGG
PDB LinkNA
Entrez Link 9152
OMIM Link604159
Mode of InheritanceAutosomal Recessive
Gene NameVSX1
Chromosomal Location20p11.21
Nucleotide AccessionNC_000020.11 (1098 nt)
Protein Accession NP_055403 (365 aa)
Genecards LinkView VSX1 gene at Genecards
Uniprot LinkQ9NZR4
KEGG LinkView VSX1 gene at KEGG
PDB LinkNA
Entrez Link 30813
OMIM Link605020
Mode of InheritanceAutosomal Dominant
Gene NameTYR gene
Chromosomal Location11q14.3
Nucleotide AccessionNC_000011.10 (1590 nt)
Protein AccessionNP_000363 (529 aa )
Genecards LinkView TYR gene gene at Genecards
Uniprot LinkP14679
KEGG LinkView TYR gene gene at KEGG
PDB LinkNA
Entrez Link7299
OMIM Link606933
Mode of InheritanceAutosomal Recessive
Gene NameSLC45A2
Chromosomal Location5p13.2
Nucleotide AccessionNC_000005.10 (1593 nt)
Protein AccessionNP_057264 (530 aa)
Genecards LinkView SLC45A2 gene at Genecards
Uniprot Link Q9UMX9
KEGG LinkView SLC45A2 gene at KEGG
PDB LinkNA
Entrez Link 51151
OMIM Link606202
Mode of InheritanceAutosomal Recessive
Gene NameSTK11
Chromosomal Location19p13.3
Nucleotide AccessionNC_000019.10 ( 1302 nt)
Protein AccessionNP_000446 (433 aa)
Genecards LinkView STK11 gene at Genecards
Uniprot LinkQ15831
KEGG LinkView STK11 gene at KEGG
PDB Link2WTK
Entrez Link6794
OMIM Link602216
Mode of InheritanceAutosomal Dominant
Gene NameATP7B
Chromosomal Location13q14.3
Nucleotide AccessionNC_000013.11 ( 4398 nt )
Protein AccessionNP_000044 (1465 aa)
Genecards LinkView ATP7B gene at Genecards
Uniprot LinkP35670
KEGG LinkView ATP7B gene at KEGG
PDB Link6A72
Entrez Link540
OMIM Link606882
Mode of InheritanceAutosomal Recessive
Gene NameADA2
Chromosomal Location22q11.1
Nucleotide AccessionNC_000022.11 ( 1536 nt)
Protein Accession NP_001269154 ( 511 aa)
Genecards LinkView ADA2 gene at Genecards
Uniprot LinkQ9NZK5
KEGG LinkView ADA2 gene at KEGG
PDB Link3LGD
Entrez Link 51816
OMIM Link607575
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameTREX1
Chromosomal Location3p21.31
Nucleotide AccessionNC_000003.12 ( 945 nt)
Protein Accession NP_338599 (314 aa)
Genecards LinkView TREX1 gene at Genecards
Uniprot LinkQ9NSU2
KEGG LinkView TREX1 gene at KEGG
PDB Link7TQN
Entrez Link 11277
OMIM Link606609
Mode of InheritanceAUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE
Gene NameRNASEH2C
Chromosomal Location11q13.1
Nucleotide AccessionNC_000011.10 (495 nt)
Protein AccessionNP_115569 (164 aa)
Genecards LinkView RNASEH2C gene at Genecards
Uniprot LinkQ8TDP1
KEGG LinkView RNASEH2C gene at KEGG
PDB Link3P56
Entrez Link84153
OMIM Link610330
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameADAR1
Chromosomal Location 1q21.3
Nucleotide AccessionNC_000001.11 (3681 nt)
Protein AccessionNP_001102 ( 1226 aa)
Genecards LinkView ADAR1 gene at Genecards
Uniprot LinkP55265
KEGG LinkView ADAR1 gene at KEGG
PDB Link1QBJ
Entrez Link103
OMIM Link146920
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameMATN3
Chromosomal Location2p24.1
Nucleotide AccessionNC_000002.12 (1461 nt)
Protein AccessionNP_002372 (486 aa)
Genecards LinkView MATN3 gene at Genecards
Uniprot LinkO15232
KEGG LinkView MATN3 gene at KEGG
PDB LinkNA
Entrez Link4148
OMIM Link602109
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameCOL2A1
Chromosomal Location 12q13.11 
Nucleotide AccessionNC_000012.12 (4464 nt)
Protein Accession NP_001835 (1487 aa)
Genecards LinkView COL2A1 gene at Genecards
Uniprot LinkP02458
KEGG LinkView COL2A1 gene at KEGG
PDB Link1U5M
Entrez Link1280
OMIM Link120140
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameABCA4
Chromosomal Location1p22
Nucleotide AccessionNC_000001.11 (6822 nt)
Protein AccessionNP_000341 (2273 aa)
Genecards LinkView ABCA4 gene at Genecards
Uniprot LinkP78363
KEGG LinkView ABCA4 gene at KEGG
PDB Link7E7I
Entrez Link24
OMIM Link601691
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameNTRK1
Chromosomal Location1q23.1
Nucleotide AccessionNC_000001.11 (2391 nt)
Protein AccessionNP_002520 (796 aa)
Genecards LinkView NTRK1 gene at Genecards
Uniprot LinkP04629
KEGG LinkView NTRK1 gene at KEGG
PDB Link1HE7
Entrez Link 4914
OMIM Link191315
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameCOPA
Chromosomal Location1q23.2
Nucleotide AccessionNC_000001.11 (3675 nt)
Protein AccessionNP_004362 (1224 aa)
Genecards LinkView COPA gene at Genecards
Uniprot Link P53621
KEGG LinkView COPA gene at KEGG
PDB Link6PBG
Entrez Link1314
OMIM Link601924
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameNIPBL
Chromosomal Location5p13.2
Nucleotide AccessionNC_000005.10 (8415 nt)
Protein Accession NP_597677 (2804 aa)
Genecards LinkView NIPBL gene at Genecards
Uniprot LinkQ6KC79
KEGG LinkView NIPBL gene at KEGG
PDB Link6WG3
Entrez Link25836
OMIM Link608667
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameSMC3
Chromosomal Location 10q25.2
Nucleotide AccessionNC_000010.11 (3654 nt)
Protein AccessionNP_005436 (1217 aa )
Genecards LinkView SMC3 gene at Genecards
Uniprot LinkQ9UQE7
KEGG LinkView SMC3 gene at KEGG
PDB Link6WG4
Entrez Link9126
OMIM Link606062
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameRAD21
Chromosomal Location 8q24.11  
Nucleotide Accession NC_000008 (1896 nt)
Protein Accession NP_006256.1 (631 aa)
Genecards LinkView RAD21 gene at Genecards
Uniprot LinkO60216
KEGG LinkView RAD21 gene at KEGG
PDB Link4PJU
Entrez Link5885
OMIM Link606462
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameFBLN4/EFEMP2
Chromosomal Location11q13.1 
Nucleotide AccessionNC_000011 (1332 nt)
Protein AccessionNP_058634 (443 aa)
Genecards LinkView FBLN4/EFEMP2 gene at Genecards
Uniprot LinkO95967
KEGG LinkView FBLN4/EFEMP2 gene at KEGG
PDB Link2KL7
Entrez Link30008
OMIM Link604633
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameLTBP4
Chromosomal Location19q13.2
Nucleotide AccessionNC_000019 (4875 nt)
Protein AccessionNP_001036009 (1624 aa)
Genecards LinkView LTBP4 gene at Genecards
Uniprot LinkQ8N2S1
KEGG LinkView LTBP4 gene at KEGG
PDB LinkNA
Entrez Link8425
OMIM Link604710
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameATP6V0A2
Chromosomal Location12q24.31
Nucleotide AccessionNC_000012 (2571 nt)
Protein AccessionNP_036595 (856 aa)
Genecards LinkView ATP6V0A2 gene at Genecards
Uniprot LinkQ9Y487
KEGG LinkView ATP6V0A2 gene at KEGG
PDB LinkNA
Entrez Link23545
OMIM Link611716
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NamePYCR1
Chromosomal Location17q25.3
Nucleotide AccessionNC_000017 (960 nt)
Protein AccessionNP_001269209 (319 aa)
Genecards LinkView PYCR1 gene at Genecards
Uniprot LinkP32322
KEGG LinkView PYCR1 gene at KEGG
PDB Link2GER
Entrez Link5831
OMIM Link179035
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameALDH18A1
Chromosomal Location10q24.1  
Nucleotide AccessionNC_000010 (2388 nt)
Protein AccessionNP_001310342 (795 aa)
Genecards LinkView ALDH18A1 gene at Genecards
Uniprot LinkP54886
KEGG LinkView ALDH18A1 gene at KEGG
PDB Link2H5G
Entrez Link5832
OMIM Link138250
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameIL1RN
Chromosomal Location2q14.1
Nucleotide AccessionNC_000002.12 (534 nt)
Protein AccessionNP_776214 (177 aa)
Genecards LinkView IL1RN gene at Genecards
Uniprot Link P18510
KEGG LinkView IL1RN gene at KEGG
PDB Link1ILR
Entrez Link3557
OMIM Link147679
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameEDARADD
Chromosomal Location1q42.3-q43
Nucleotide AccessionNC_000001 (648 nt)
Protein AccessionNP_665860 (215 aa)
Genecards LinkView EDARADD gene at Genecards
Uniprot LinkQ8WWZ3
KEGG LinkView EDARADD gene at KEGG
PDB LinkNA
Entrez Link128178
OMIM Link606603
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameCOL1A1
Chromosomal Location 17q21.33  
Nucleotide AccessionNC_000017.11 (4395 nt)
Protein AccessionNP_000079 (1464 aa)
Genecards LinkView COL1A1 gene at Genecards
Uniprot LinkP02452
KEGG LinkView COL1A1 gene at KEGG
PDB Link2LLP
Entrez Link1277
OMIM Link120150
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameCOL1A2
Chromosomal Location7q21.3 
Nucleotide AccessionNC_000007.14 (4101 nt)
Protein Accession NP_000080 (1366 aa)
Genecards LinkView COL1A2 gene at Genecards
Uniprot LinkP08123
KEGG LinkView COL1A2 gene at KEGG
PDB Link5CTD
Entrez Link1278
OMIM Link120160
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameCOL1A2
Chromosomal Location 7q21.3   
Nucleotide AccessionNC_000007.14 (4101 nt )
Protein Accession NP_000080 (1366 aa)
Genecards LinkView COL1A2 gene at Genecards
Uniprot LinkP08123
KEGG LinkView COL1A2 gene at KEGG
PDB Link5CTD
Entrez Link1278
OMIM Link120160
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameCOL5A2
Chromosomal Location2q32.2 
Nucleotide AccessionNC_000002.12 (4500 nt)
Protein Accession NP_000384 (1499 aa)
Genecards LinkView COL5A2 gene at Genecards
Uniprot LinkP05997
KEGG LinkView COL5A2 gene at KEGG
PDB LinkNA
Entrez Link1290
OMIM Link120190
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameCHST14
Chromosomal Location15q15.1
Nucleotide AccessionNC_000015.10 (1131 nt)
Protein AccessionNP_569735 (376 aa)
Genecards LinkView CHST14 gene at Genecards
Uniprot LinkQ8NCH0
KEGG LinkView CHST14 gene at KEGG
PDB LinkNA
Entrez Link113189
OMIM Link608429
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameB3GALT6
Chromosomal Location1p36.33 
Nucleotide AccessionNC_000001.11 (990 nt)
Protein AccessionNP_542172 (329 aa)
Genecards LinkView B3GALT6 gene at Genecards
Uniprot LinkQ96L58
KEGG LinkView B3GALT6 gene at KEGG
PDB LinkAF_AFQ96L58F1
Entrez Link126792
OMIM Link615291
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameCOL3A1
Chromosomal Location2q32.2
Nucleotide AccessionNC_000002.12 (4401 nt)
Protein AccessionNP_000081.1 (1466 aa)
Genecards LinkView COL3A1 gene at Genecards
Uniprot LinkP02461
KEGG LinkView COL3A1 gene at KEGG
PDB Link2V53
Entrez Link1281
OMIM Link120180
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameCOL7A1
Chromosomal Location3p21.31 
Nucleotide AccessionNC_000003.12 (8835 nt)
Protein AccessionNP_000085 (2944 aa )
Genecards LinkView COL7A1 gene at Genecards
Uniprot LinkQ02388
KEGG LinkView COL7A1 gene at KEGG
PDB Link
Entrez Link1294
OMIM Link120120
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameLAMA3
Chromosomal Location 18q11.2 
Nucleotide AccessionNC_000018.10 (10002 nt)
Protein AccessionNP_000218.3 (3333 aa)
Genecards LinkView LAMA3 gene at Genecards
Uniprot LinkQ16787
KEGG LinkView LAMA3 gene at KEGG
PDB Link4AQS
Entrez Link3909
OMIM Link600805
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameLAMB3
Chromosomal Location1q32.2   
Nucleotide AccessionNC_000001.11 (3519 nt )
Protein AccessionNP_000219.2 (1172 aa)
Genecards LinkView LAMB3 gene at Genecards
Uniprot LinkQ13751
KEGG LinkView LAMB3 gene at KEGG
PDB Link4AQS
Entrez Link3914
OMIM Link150310
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameLAMB3
Chromosomal Location1q32.2   
Nucleotide AccessionNC_000001.11 (3519 nt )
Protein AccessionNP_000219.2 (1172 aa)
Genecards LinkView LAMB3 gene at Genecards
Uniprot LinkQ13751
KEGG LinkView LAMB3 gene at KEGG
PDB Link4AQS
Entrez Link3914
OMIM Link150310
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameLAMA3
Chromosomal Location 18q11.2 
Nucleotide AccessionNC_000018.10 (10002 nt)
Protein AccessionNP_000218.3 (3333 aa)
Genecards LinkView LAMA3 gene at Genecards
Uniprot LinkQ16787
KEGG LinkView LAMA3 gene at KEGG
PDB Link4AQS
Entrez Link3909
OMIM Link600805
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameCOL17A1
Chromosomal Location10q25.1  
Nucleotide AccessionNC_000010.11 (4494 nt)
Protein Accession NP_000486 (1497 aa)
Genecards LinkView COL17A1 gene at Genecards
Uniprot LinkQ9UMD9 
KEGG LinkView COL17A1 gene at KEGG
PDB LinkNA
Entrez Link1308
OMIM Link113811
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameITGA3
Chromosomal Location 17q21.33  
Nucleotide AccessionNC_000017.11 (3156 nt)
Protein AccessionNP_002195 (1051 aa )
Genecards LinkView ITGA3 gene at Genecards
Uniprot LinkP26006
KEGG LinkView ITGA3 gene at KEGG
PDB LinkNA
Entrez Link3675
OMIM Link605025
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameKRT5
Chromosomal Location12q13.13
Nucleotide AccessionNC_000012.12 (1773 nt)
Protein AccessionNP_000415 (590 aa)
Genecards LinkView KRT5 gene at Genecards
Uniprot LinkP13647
KEGG LinkView KRT5 gene at KEGG
PDB Link3TNU
Entrez Link3852
OMIM Link148040
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameCOMP
Chromosomal Location19p13.11  
Nucleotide AccessionNC_000019.10 (2274 nt)
Protein Accession NP_000086 (757 aa )
Genecards LinkView COMP gene at Genecards
Uniprot LinkP49747 
KEGG LinkView COMP gene at KEGG
PDB Link3FBY
Entrez Link1311
OMIM Link 600310
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameEIF2AK3
Chromosomal Location 2p11.2  
Nucleotide AccessionNC_000002.12 (3351 nt )
Protein AccessionNP_004827 (1116 aa )
Genecards LinkView EIF2AK3 gene at Genecards
Uniprot LinkQ9NZJ5
KEGG LinkView EIF2AK3 gene at KEGG
PDB Link4G31
Entrez Link9451
OMIM Link604032
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameEXT1
Chromosomal Location8q24.11  
Nucleotide AccessionNC_000008.12 (2241 nt)
Protein Accession NP_000119 (746 aa)
Genecards LinkView EXT1 gene at Genecards
Uniprot LinkQ16394 
KEGG LinkView EXT1 gene at KEGG
PDB Link7SCH
Entrez Link2131
OMIM Link 608177
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameEXT2
Chromosomal Location 11p11.2  
Nucleotide AccessionNC_000011.10 (2157 nt)
Protein AccessionNP_997005 (718 aa)
Genecards LinkView EXT2 gene at Genecards
Uniprot LinkQ93063 
KEGG LinkView EXT2 gene at KEGG
PDB Link7SCH
Entrez Link2132
OMIM Link608210
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameF13A1
Chromosomal Location 6p25.1 
Nucleotide AccessionNC_000006.12 (2199 nt)
Protein AccessionNP_000120 (732 aa)
Genecards LinkView F13A1 gene at Genecards
Uniprot LinkP00488
KEGG LinkView F13A1 gene at KEGG
PDB Link1EVU
Entrez Link2162
OMIM Link134570
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameAPC
Chromosomal Location 5q22.2   
Nucleotide AccessionNC_000005.10 (8532 nt)
Protein Accession NP_000030 (2843 aa)
Genecards LinkView APC gene at Genecards
Uniprot LinkP25054 
KEGG LinkView APC gene at KEGG
PDB Link1DEB
Entrez Link324
OMIM Link611731
Mode of InheritanceAUTOSOMAL DOMINANT
Gene NameMUTYH
Chromosomal Location 1p34.1
Nucleotide AccessionNC_000001.11 (1641 nt)
Protein AccessionNP_036354 (546 aa)
Genecards LinkView MUTYH gene at Genecards
Uniprot LinkQ9UIF7
KEGG LinkView MUTYH gene at KEGG
PDB Link1X51
Entrez Link4595
OMIM Link604933
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameFANCA
Chromosomal Location16q24.3
Nucleotide AccessionNC_000016.10 (4368 nt )
Protein AccessionNP_000126 (1455 aa)
Genecards LinkView FANCA gene at Genecards
Uniprot LinkO15360
KEGG LinkView FANCA gene at KEGG
PDB Link 7KZP
Entrez Link2175
OMIM Link607139
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameFANCC
Chromosomal Location 9q22.32 
Nucleotide AccessionNC_000009.12 (1677 nt)
Protein Accession NP_000127 (558 aa)
Genecards LinkView FANCC gene at Genecards
Uniprot LinkQ00597
KEGG LinkView FANCC gene at KEGG
PDB Link7KZP
Entrez Link2176
OMIM Link613899
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameFANCD2
Chromosomal Location 3p25.3  
Nucleotide AccessionNC_000003.12 (4356 nt)
Protein Accession NP_001018125 (1451 aa)
Genecards LinkView FANCD2 gene at Genecards
Uniprot LinkQ9BXW9
KEGG LinkView FANCD2 gene at KEGG
PDB Link6VAA
Entrez Link2177
OMIM Link613984
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameFANCE
Chromosomal Location 6p21.31 
Nucleotide AccessionNC_000006.12 (1611 nt)
Protein AccessionNP_068741 (536 aa)
Genecards LinkView FANCE gene at Genecards
Uniprot LinkQ9HB96
KEGG LinkView FANCE gene at KEGG
PDB Link 2ILR
Entrez Link2178
OMIM Link613976
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameFANCF
Chromosomal Location 11p14.3  
Nucleotide AccessionNC_000011.10 (1125 nt)
Protein AccessionNP_073562 (374 aa)
Genecards LinkView FANCF gene at Genecards
Uniprot LinkQ9NPI8
KEGG LinkView FANCF gene at KEGG
PDB Link2IQC
Entrez Link2188
OMIM Link 613897
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameFANCI
Chromosomal Location 15q26.1 
Nucleotide AccessionNC_000015.10 (3987 nt )
Protein AccessionNP_001106849 (1328 aa)
Genecards LinkView FANCI gene at Genecards
Uniprot LinkQ9NVI1
KEGG LinkView FANCI gene at KEGG
PDB Link6VAA
Entrez Link55215
OMIM Link611360
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NamePALB2
Chromosomal Location16p12.2  
Nucleotide AccessionNC_000016.10 (3562 nt )
Protein AccessionNP_078951 (1186 aa)
Genecards LinkView PALB2 gene at Genecards
Uniprot LinkQ86YC2
KEGG LinkView PALB2 gene at KEGG
PDB Link2W18
Entrez Link79728
OMIM Link610355
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameGCDH
Chromosomal Location 19p13.13
Nucleotide AccessionNC_000019.10 (1317 nt)
Protein Accession NP_000150 (438 aa)
Genecards LinkView GCDH gene at Genecards
Uniprot LinkQ92947
KEGG LinkView GCDH gene at KEGG
PDB Link1SIQ
Entrez Link 2639
OMIM Link608801
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameNA
Chromosomal LocationNA
Nucleotide AccessionNA (NA)
Protein AccessionNA (NA)
Genecards LinkView NA gene at Genecards
Uniprot LinkNA
KEGG LinkView NA gene at KEGG
PDB LinkNA
Entrez LinkNA
OMIM LinkNA
Mode of InheritanceNA
Gene NameBSCL2
Chromosomal Location11q12.3
Nucleotide AccessionNC_000011 (1197 nt)
Protein AccessionNP_116056 (398 aa)
Genecards LinkView BSCL2 gene at Genecards
Uniprot LinkQ96G97
KEGG LinkView BSCL2 gene at KEGG
PDB Link6DS5
Entrez Link26580
OMIM Link606158
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameMVK
Chromosomal Location12q24.11
Nucleotide AccessionNC_000012.12 (1191 nt)
Protein AccessionNP_000422 (396 aa)
Genecards LinkView MVK gene at Genecards
Uniprot LinkQ03426
KEGG LinkView MVK gene at KEGG
PDB Link2R3V
Entrez Link4598
OMIM Link251170
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameMMP2
Chromosomal Location16q12.2
Nucleotide AccessionNC_000016.10 (1983 nt)
Protein Accession NP_004521 ( 660 aa)
Genecards LinkView MMP2 gene at Genecards
Uniprot LinkP08253
KEGG LinkView MMP2 gene at KEGG
PDB Link1CK7
Entrez Link4313
OMIM Link120360
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameHPGD
Chromosomal Location4q34.1 
Nucleotide AccessionNC_000004.12 ( 801 nt)
Protein AccessionNP_000851 (266 aa)
Genecards LinkView HPGD gene at Genecards
Uniprot LinkP15428
KEGG LinkView HPGD gene at KEGG
PDB Link2GDZ
Entrez Link3248
OMIM Link601688
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameSLCO2A1
Chromosomal Location3q22.1-q22.2
Nucleotide AccessionNC_000003.12 (1932 nt)
Protein AccessionNP_005621 (643 aa)
Genecards LinkView SLCO2A1 gene at Genecards
Uniprot LinkQ92959
KEGG LinkView SLCO2A1 gene at KEGG
PDB Link3MRR
Entrez Link6578
OMIM Link601460
Mode of InheritanceAUTOSOMAL RECESSIVE
Gene NameIL10RB
Chromosomal Location21q22.11
Nucleotide AccessionNC_000021.9 ( 978 nt)
Protein Accession NP_000619 (325 aa)
Genecards LinkView IL10RB gene at Genecards
Uniprot LinkQ08334
KEGG LinkView IL10RB gene at KEGG
PDB Link3LQM
Entrez Link 3588
OMIM Link 123889
Mode of InheritanceAUTOSOMAL RECESSIVE
Mutation/s in Gene: 'MYH7' Causing: ''
Indel Mutation/s0
Point Mutation/s0
Gross Mutation/s0
Repeat Mutation/s0
Splice Junction Mutation/s0
All Mutations0
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