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Mutation data in current MutationView

  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.