MutationView  Hamamatsu
- Version 1.0
Current Data Ammount (Feb 2017) : 38 genes, 72 diseases .
New Data : 2 Sialidosis genes, 4 ALS genes (1 POAG gene)
Title MIM # MIM Symbols Location Gene Symbol HGNC ID HIX ID Anatomy
CATHEPSIN A; CTSA (GSL) 256540 CTSA, CATHA, PPGB, PPCA, GLB2 20q13.12 CTSA 9251 HIX0015868 /syndrome/bone
NEURAMINIDASE 1; NEU1(ML1) 608272 NEU1, SIAL1 6p21.33 NEU1 7758 HIX0165902 /syndrome/bone
OPTINEURIN; OPTN (POAG,ALS) 602432 OPTN, FIP2, NRP 10p13 OPTN 17142 HIX0008651 /syndrome/muscle/neuron, /eye
TAR DNA-BINDING PROTEIN; TARDBP (ALS) 605078 TARDBP, TDP43 1p36.22 TARDBP 11571 HIX0000120 /syndrome/muscle/neuron
FUSED IN SARCOMA; FUS (ALS) 137070 FUS, TLS 16p11.2 FUS 4010 HIX0012983 /syndrome/muscle/neuron
SUPEROXIDE DISMUTASE 1; SOD1 (ALS) 147450 SOD1 21q22.11 SOD1 11179 HIX0016056 /syndrome/muscle/neuron
Already Stored Data :
Title MIM # MIM Symbols Location Gene Symbol HGNC ID HIX ID Anatomy
EPM2A GENE; EPM2A 607566 EPM2A,MELF,EPM2 6q24 EPM2A 3413 HIX0003167
NHL REPEAT-CONTAINING 1 GENE; NHLRC1 608072 NHLRC1,EPM2A,EPM2B 6p22.3 GPR143 21576 HIX0032861
POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2 602235 KCNQ2,EBN1,EIEE7,BFNS1 20q13.3 KCNQ2 6296 HIX0016000
G PROTEIN-COUPLED RECEPTOR 143; GPR143 300808 GPR143,OA1 Xp22.3 GPR143 20145 HIX0056224
RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65 180069 RPE65,RP20,LCA2 1p31 RPE65 10294 HIX0200049 /eye
TYROSINASE; TYR 606933 TYR,SHEP3 11q14-q21 TYR 12442 HIX0010011 /eye,/skin,/hair
PAIRED BOX GENE 6; PAX6 607108 PAX6,AN2,MGDA 11p13 PAX6 8620 HIX0009529
BESTROPHIN 1; BEST1 607854 BEST1,VMD2,ARB 11q13 BEST1 12703 HIX0026129
FIBULIN 5; FBLN5 604580 FBLN5,ARMD3,DANCE 14q32.1 FBLN5 3602 HIX0011897 /skin,/eye
EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR 131550 EGFR,S7 7p12.3-p12.1 EGFR 3236 HIX0025274
WD REPEAT-CONTAINING PROTEIN 36; WDR36;;T-CELL ACTIVATION WD REPEAT-CONTAINING PROTEIN; TAWDRP 609669 WDR36,TAWDRP,GLC1G 5q21.3-q22.1 WDR36 30696 HIX0005079
ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR 146920 ADAR, DRADA, DSH, DSRAD, ADAR1 1q21.3 ADAR 439344 HIX0001101
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 133510 ERCC3, XPB, XP2, XPBC 2q21 ERCC3 119881 HIX0002431 /cancer
CRYSTALLIN, GAMMA-D 123690 CRYGD, CRYG4 2q33-q35 CRYGD 119079 HIX0030025 /eye
/eye/lens
BEADED FILAMENT STRUCTURAL PROTEIN 2 603212 BFSP2, CP49, CP47 3q21-q25 BFSP2 9955111 HIX0030874
ASPARTYLGLUCOSAMINURIA 208400 AGA 4q32-q33 AGA 118981 HIX0004652
POLYMERASE, DNA, ETA 603968 POLH, XPV 6p21.1-p12 POLH 6963323 HIX0005909
GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5 608780 GTF2H5 6q25.3 GTF2H5 21157 HIX0019969
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A 611153 XPA, XP1, XPAC 9q22.3 XPA 125363 HIX0008216
DNA DAMAGE-BINDING PROTEIN 2 600811 DDB2 11p12-p11 DDB2 595015 HIX0009611 /cancer
CRYSTALLIN, ALPHA-B 123590 CRYAB, CRYA2, CTPP2 11q22.3-q23.1 CRYAB 119805 HIX0010112 /eye
/eye/lens
/muscle
MAJOR INTRINSIC PROTEIN OF LENS FIBER 154050 MIP, AQP0 12q13 MIP 119394 HIX0036831
RETINOL DEHYDROGENASE 5 601617 RDH5, RDH1 12q13-q14 RDH5 1391794 HIX0010703
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5 133530 ERCC5, XPG, UVDR, XPGC 13q33 ERCC5 120515 HIX0011444 /cancer
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4 133520 ERCC4, XPF 16p13.3-p13.13 ERCC4 119113 HIX0038603 /cancer
HEAT-SHOCK TRANSCRIPTION FACTOR 4 602438 HSF4, CTM 16q21-q22.1 HSF4 9835725 HIX0013135
CRYSTALLIN, BETA-A1 123610 CRYBA1, CRYB1, CCZS 17q11.1-q12 CRYBA1 119806 HIX0039211 /eye
/eye/lens
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 126340 ERCC2, EM9, XPD, XPDC, XP4, TTD1, XP8, XPH 19q13.2-q13.3 ERCC2 119112 HIX0015230 /skin
/cancer
/eye
/brain
LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD 154045 LIM2, MP19 19q13.4 LIM2 132678 HIX0039996
BBS1 GENE 209901 BBS1 11q13 BBS1 270663 HIX0009839 /eye
/kidney
/syndrome/bone/finger
/neuron
BARDET-BIEDL SYNDROME2 606151 BBS2 16q21 BBS2 229992 HIX0013053 /eye
/kidney
/syndrome/bone/finger
/neuron
MCKUSICK-KAUFMAN SYNDROME GENE (BBS6) 604896 MKKS,HMCS,KMS,MKS,BBS6 20p12 MKKS 9860197 HIX0015642 /eye
/kidney
/syndrome/bone/finger
/neuron