| Affected Tissue/Organ | Chromosome | Gene Product | Gene Symbol | # of Mutation Entry | Disease Name | Curator | |
|
eye | 1 | ATP-binding Transporter | ABCR | 24 | Stargardt Disease Type 1 | Keio Univ. DMB. |
|
eye | 1 | Myocilin/Trabecular Meshwork Induced Glucocorticoid Responsive Protein (TIGR) | MYOC | 63 | Primary Open Angle Glaucoma | Keio Univ. DMB. |
|
eye | 2 | Cytochrome P450 1B1 | CYP1B1 | 30 | Primary Congenital Glaucoma | Keio Univ. DMB. |
|
eye | 2 | Cyclic Nucleotide-Gated Channel, alpha-3 | CNGA3 | 11 | total color blindness | Keio Univ. DMB. |
|
eye | 3 | Rhodopsin | RHO | 96 | Congenital Stationary Night Blindness | Keio Univ. DMB. |
|
Retinitis Pigmentosa | ||||||
|
eye | 4 | Phosphodiesterase 6B | PDE6B | 9 | Congenital Stationary Night Blindness | Keio Univ. DMB. |
|
Retinitis Pigmentosa | ||||||
|
eye | 4 | cGMP-gated Cation Channel | CNCG1/ CNGA1 | 5 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
eye | 5 | Phosphodiesterase 6A | PDE6A | 3 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
eye | 5 | transforming growth factor, beta-induced (keratoepithelin) | TGFBI | 9 | corneal dystrophy of Avellino type; ACD | Keio Univ. DMB. |
|
corneal dystrophy of lattice type 1; CDL1 | ||||||
|
corneal dystrophy type IIIA; LCDIIIA | ||||||
|
granular corneal dystrophy of Groenouw type 1; CDGG1 | ||||||
|
Reis-Bucklers' corneal dystrophy; CDRB | ||||||
|
Gelatinous droplike dystrophy; GDLD | ||||||
|
eye | 6 | Peripherin | RDS | 14 | Cone-Rod Dystrophy | Keio Univ. DMB. |
|
Foveal Dystrophy | ||||||
|
Pattern Dystrophy | ||||||
|
Widespread Retinal Degeneration with More Pronounced Pericentral Component | ||||||
|
Foveamacular Dystrophy | ||||||
|
Macular Dystrophy | ||||||
|
Vitelliform Macular Dystrophy | ||||||
|
Retinitis Punctata Albescens | ||||||
|
Retinitis Pigmentosa | ||||||
|
eye | 9 | Gelsolin | GSN | 6 | Corneal Dystrophy, Familial Amyloidosis of Finnish Type | Keio Univ. DMB. |
|
eye | 11 | Membrane Protein 1 | ROM1 | 4 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
eye | 13 | Rhodopsin Kinase | RHOK | 3 | Oguchi disease | Keio Univ. DMB. |
|
eye | 13 | gap junction protein, alpha 3, 46kDa (connexin 46) | GJA3 | 2 | Congenital cataract | Keio Univ. DMB. |
|
eye | 22 | crystallin, beta B2 | CRYBB2 | 2 | Coppock-like cataract | Keio Univ. DMB. |
|
Cerulean cataract | ||||||
|
eye | X | Retinitis Pigmentosa GTPase Regulator (RPGR) | RP3 | 8 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
eye | X | XLRS1 Protein | RS1 | 16 | X-linked Retinoschisis | Keio Univ. DMB. |
|
eye | X | Rab Escort Protein-1 (REP-1) | CHM | 47 | Choroideremia | Keio Univ. DMB. |
|
ear | 1 | potassium channel, voltage-gated, KQT-like subfamily, member 4 | KCNQ4 | 5 | DFNA2, Deafness, autosomal dominant 2 | Keio Univ. DMB. |
|
ear | 1 | gap junction protein, beta 3, 31kDa (connexin 31) | GJB3 | 8 | Deafness, autosomal dominant 2 | Keio Univ. DMB. |
|
Deafness, autosomal recessive | ||||||
|
Erythrokeratodermia variabilis | ||||||
|
ear | 2 | Otoferlin | OTOF | 1 | DFNB9, Deafness, non-syndromic, autosomal recessive | Keio Univ. DMB. |
|
ear | 3 | microphthalmia-associated transcription factor | MITF | 18 | Waardenburg syndrome 2, 2A | Keio Univ. DMB. |
|
ear | 5 | Diaphanous (Drosophila homologue) 1 | DIAPH1/DFNA1 | 1 | Deafness, non-syndromic, autosomal dominant 1 | Keio Univ. DMB. |
|
ear | 5 | POU domain, class 4, transcription factor 3 | POU4F3 | 1 | Deafness, non-syndromic, autosomal dominant | Keio Univ. DMB. |
|
ear | 11 | Tectorin alpha | TECTA | 5 | Deafness, autosomal dominant 8, 12 | Keio Univ. DMB. |
|
Deafness, autosomal recessive 21 | ||||||
|
ear | 14 | Coagulation factor C (Limulus polyphemus) homology | COCH | 5 | Deafness, non-syndromic, autosomal dominant | Keio Univ. DMB. |
|
ear | 17 | Myosin XV | MYO15 | 3 | DFNB3, Deafness, non-syndromic, autosomal recessive | Keio Univ. DMB. |
|
heart | 1 | Troponin T2, cardiac | TNNT2 | 11 | hypertropic cardiomyopathy | Keio Univ. DMB. |
|
heart | 5 | homeobox NKX2-5 | CSX | 4 | congenital heart disease, non-syndromic | Keio Univ. DMB. |
|
heart | 6 | 43-kd gap-junction protein | GJA1 | 8 | heart malformations | Keio Univ. DMB. |
|
heart | 12 | Myosin, light chain, regulatory ventricular | MYL2 | 5 | hypertrophic cardiomyopathy | Keio Univ. DMB. |
|
heart | 11 | Myosin-binding protein C | MYBPC3 | 23 | Familial hypertropic cardiomyopathy mybpc3.html | Keio Univ. DMB. |
|
heart | 19 | Troponin I, cardiac | TNNI3 | 20 | apical hypertropic cardiomyopathy | Keio Univ. DMB. |
|
hypertropic cardiomyopathy | ||||||
Multi- tissue/organ |
heart,ear | 21 | cardiac potassium-channel protein minK | KCNE1 | 8 | long QT syndrome | Keio Univ. DMB. |
|
Jervell and Lange-Nielsen syndrome | ||||||
|
cancer | 3 | catenin, beta-1 | CTNNB1 | 39 | cancer | Setsunan Univ. |
|
cancer | 16 | cadherin, epithelial | CDH1 | 105 | cancer | Setsunan Univ. |
Multi- tissue/organ |
cancer,eye | 13 | RB1 Protein | RB1 | 229 | Retinoblastoma | Keio Univ. DMB. |
|
cancer | 17 | tumor protein p53 | TP53 | 1232 | cancer | Mayo Clinic, USA |
|
cancer | 17 | tumor protein p53 | TP53 | 6200 | cancer | Institut Curie (Paris), France |
|
cancer | 17 | tumor protein p53 | TP53 | 6053 | cancer | Cariello N. F. et al., USA |
Multi- tissue/organ |
cancer,breast | 17 | breast cancer, type 1 | BRCA1 | 540 | breast cancer | Keio Univ. |
Multi- tissue/organ |
cancer,breast | 13 | breast cancer, type 2 | BRCA2 | 348 | breast cancer | Keio Univ. |
Multi- tissue/organ |
brain,neuron,muscle | 6 | parkin | Parkin/ PARK2 | 35 | parkinsonism, juvenile | Keio Univ. DMB. |
Multi- tissue/organ |
brain,neuron,muscle | 4 | Synuclein, alpha | SNCA | 3 | Parkinson's disease | Keio Univ. DMB. |
Multi- tissue/organ |
brain, blood | 12 | phenylalanine hydroxylase | PAH | 2277 | phenylketonuria | McGill Univ. (Quebec), Canada |
Multi- tissue/organ |
lung, pancreas | 7 | cystic fibrosis transmembrane conductance regulator | CFTR | 651 | cystic fibrosis | Toronto Hospital for Sick Children, Canada |
Multi- tissue/organ |
neuron, muscle | 1 | myelin protein zero | MPZ | 66 | Charcot-Marie-Tooth disease type 1B | Keio Univ. DMB. |
|
Dejerine-Sottas syndrome | ||||||
Multi- tissue/organ |
neuron, muscle | 17 | peripheral myelin protein 22 | PMP22 | 19 | Charcot-Marie-Tooth disease type 1A | Keio Univ. DMB. |
|
Dejerine-Sottas syndrome | ||||||
Multi- tissue/organ |
neuron, muscle | X | gap junction protein, beta-1, 32-kd | GJB1 | 87 | X-linked Charcot-Marie-Tooth disease type 1 | Keio Univ. DMB. |
|
X-linked Charcot-Marie-Tooth disease type 2 | ||||||
Multi- tissue/organ |
autoimmunity, blood | 10 | tumor necrosis factor receptor superfamily, member 6 | TNFRSF6/ APT1/ FAS | 32 | autoimmune lymphoproliferative syndrome | Keio Univ. DMB. |
|
Canale-Smith syndrome | ||||||
Multi- tissue/organ |
autoimmunity, ovary, pancreas, blood, liver, skin, Adrenal gland, Gall bladder, Thyroid | 21 | autoimmune regulator | AIRE | 64 | autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | Keio Univ. DMB. |