Partly mapped human disease genes
Using the table and the Genome Browser to match inherited disease with gene
How the table was made
How the table will be used
How the table will be validated
How the table will be kept current
Quality control: checks that were run
12 Dec 00 webmaster research in conjunction with Jim Kent's UCSC Genome Browser and Johns Hopkins' OMIM
omim 258501 231550 200500 216900 200990 154400 602875 194071 300310 225750 304050 300700 103581 309600 147061 203800 104310 602096 104500 301201 602433 105550 205100 602099 105580 218000 300268 301590 107250 107970 600996 602087 604400 604401 186580 208100 301830 301835 108725 108985 209850 304930 209901 209900 600151 600374 603650 602522 132800 213600 301845 601764 269700 125480 262000 110100 601649 112250 310460 600430 112500 113300 113721 600048 605365 600807 259450 314400 163950 601493 601154 602067 604145 604288 605362 600884 601494 600858 605244 212200 250250 115470 115650 601202 115660 156850 115665 116800 601286 116600 605387 212750 302500 601238 603284 603285 605388 601780 191181 604563 605260 302801 302801 118210 600882 601472 214400 601596 118400 214900 118600 118700 200150 118800 601042 300220 215500 604901 303400 119540 216550 120100 604940 304020 300085 603649 600624 604168 121700 217095 604403 604352 602066 121800 122000 602082 122470 310490 304110 123000 600593 123100 123270 304500 300030 300066 601316 603964 603622 604717 605192 600965 600965 601412 601412 601386 601386 603098 603678 603720 603010 602092 602092 604060 605428 600971 600971 605429 194380 600795 600795 125420 125420 603165 300136 601942 601208 601388 601318 601666 603266 600320 601941 600321 600089 600089 603694 601410 112250 188400 188400 108120 601680 604356 126800 223900 223900 105600 105600 224120 224120 127700 600202 600202 604254 605408 128235 602124 602124 602077 602077 602084 600631 600808 131400 131950 300088 600669 604827 254770 601068 603204 600512 604364 300211 263400 600209 227220 602782 602476 602477 153640 305450 135300 135700 602078 604361 603358 109350 190100 601682 602429 602432 603383 600975 221820 601894 603965 138000 314300 138800 300273 141400 603388 309555 601800 266300 113900 602089 602390 604201 165320 114550 142380 142470 142335 601884 142669 300221 236100 306995 603218 604802 181600 231090 236680 147060 143870 605329 600740 603776 603813 604499 602491 145001 112410 603918 604329 307150 605201 605019 145981 602639 602014 307700 241410 605389 146550 146520 604780 601277 604777 604781 137100 600737 308350 266600 601458 604519 605225 147520 300048 147791 213300 244460 148370 308800 214300 148900 267750 150250 150270 604537 604232 220111 150800 253310 247640 602439 109543 159595 186860 603896 603543 164953 600919 153400 603517 114400 603075 153840 153880 273300 154275 600467 155600 309200 154705 155100 603855 603860 309300 300148 248300 155900 603663 603664 309510 300062 309610 300047 300077 309605 300114 304340 309585 300271 309549 300123 300210 309545 300115 300055 602685 300238 309620 309583 300243 300262 300261 300260 300263 309470 300218 251200 604317 604804 604321 156600 605013 251600 142993 309801 602481 300125 157700 601228 601471 604185 252350 191900 252500 253280 604801 602771 159000 159001 603511 254110 601846 160500 160500 603689 310460 160700 603221 602668 302350 600165 604387 602088 161950 162100 234200 604484 162400 605285 300278 603040 310700 164100 603188 602025 203310 300600 300650 164200 164280 145410 311050 605293 311200 119530 602966 600757 143850 300244 140600 165720 166600 259770 603045 311300 166800 167000 167250 600231 604809 602011 312000 604416 245000 168500 602404 168610 128200 301220 142680 170650 171300 600510 248310 600273 119500 176010 602085 601188 603688 601518 602759 300147 601844 145260 605232 604316 177900 602723 601454 603935 605364 178300 300245 179450 600964 233100 309500 601251 180020 221900 180105 600059 601414 602594 300155 602772 312612 180104 601499 600332 300258 252930 181405 181430 181460 603175 604906 603342 181510 600850 603176 605419 603013 269500 210600 602450 300209 210250 182280 102200 604187 604360 604805 605280 605229 300266 182600 270800 600363 603563 601162 602081 158590 600794 300021 600175 604320 605259 603516 604432 605361 600224 271245 313350 153900 600110 603786 185900 601744 300228 135750 313850 188025 603386 275220 600334 106700 137580 190300 601606 300259 313000 236730 605242 601067 602097 276902 602083 276905 239100 604772 133780 193235 193300 600193 311510 604454 314580 194090 601363 604928 300076 278250 | gene MGA3 AAAS ACHP RMCH ACLS AFD1 AMDM MTACR1 AGMX2 AGS1 AIC ADFN AHO2 AHDS IGES ALSS AD2 AD5 AIH2 AIH3 ALS4 ALSFTD ALS2 ALS5 ANC ACCPN HAEX ANOP1 ASMD ARVD1 AVRD2 ARVD4 ARVD5 ARVD6 ACUG AMCN1 AMCX1 ARTS ATHS AA AUT IPEX BBS1 BBS2 BBS3 BBS4 BBS5 BSND MSSE BGCI BZX BFIC BSCL BPAD BJS BPES BPES2 BDMF MYP1 BDMR BDA1 BDE BCPR BRCA3 BRCA4 BHR1 BRKS CVD1 NS1 CMD1C CMD1E CMD1F CMD1G CMD1H CMD1J CMD1B CMPD2 CMH6 CNC2 CNSN CHH CECR CTAA1 CTAA2 CCA1 CATM CCV CTM PCC CPP CTPP3 GSE CLA2 ATCAY CCM2 CCM3 ACP CLN6 ST3 CMT4B2 CMT4F CMTX2 CMTX2 CMT2A CMT2B CMT2D CMT4A CMTND CRBM CHLS CCAL1 BCH CHAC PNKD CSE CAMR CACD CIRH1A CPX CPX COH1 FCU HNPCC7 COD1 COD2 CORD7 CORD1 CCFDN CHED CTHM FEB3 FEB4 ICCA SCCD PPCD CDB2 CDL NAMSD CFND CMDJ CRSA CRS CKBE DFN2 DFN4 DFN6 DFNA10 DFNA16 DFNA17 DFNA20 DFNA23 DFNA6 DFNA6 DFNA7 DFNA7 DFNB12 DFNB12 DFNB13 DFNB14 DFNB16 DFNB17 DFNB18 DFNB18 DFNB20 DFNB26 DFNB6 DFNB6 DFNM1 DHS DMT1 DMT1 DTDP2 DTDP2 ATOD IDDMX IDDM10 IDDM11 IDDM12 IDDM13 IDDM15 IDDM17 IDDM5 IDDM6 IDDM7 PBCA PBCA NIDDM3 TNDM DMSMFH DGCR DGCR AMCD1 DA2B DURS2 DURS1 DYS DYS CDAN3 CDAN3 CDAN1 CDAN1 DYX1 DYX2 DYX2 DYX3 DYT11 DYT12 DYT7 DYT7 EEC2 EEC2 DEC ENUR1 ENUR2 EOS EBS1 EFMR EGI EJM2 EJM1 MEBA ENFL2 EPT FPEVF EMWX ECB2 EXT3 EYCL3 HJCD FEB1 FEB2 FTNS FGS1 GF1 FEOM1 FEOM2 FEOM3 FLNMS GER GSM1 GLC1C GLC1D GLC1E GLC1F GLC3B GPSC GFND FSGS2 VMGLOM TKCR MNG1 MNG2 GHS GRD2 GUST HCL3 HCL2 HB1 HCI HFE2 SM2 LCO HVBS1 HVBS6 HPFH HPFH2 HBM BHD HDPA HPE1 HMS1 HLN1 HLN2 TYS HYDM HLS HIES HCA HCA2 HHC3 FH3 FHCB1 HYPLIP2 HYPLIP1 HRPT2 HTNB HYT1 HYT2 HTC2 HYALP FHBL2 HHC2 HYD2 HOMG HPT HRD HTS MUHH HTSS IECN2 ICR2B LI3 INLNE IGAD1 IBM2 ISSX IBD1 IBD2 IBD3 IBD7 ITPA IPOX JBS JBTS1 KCS KWE KFSD KFS SGM1 KNO LRS1 LAP LCA5 LCA3 LSFC MCL LCCS LALL AMLCR2 D13S25 TAM TCL4 LVWM LMS LPSA LQT4 LD BCL10 LCFS2 ARMD1 VMD1 MDDC MGCT MHS2 MHS4 CMM MAFD2 MFS2 MHA CFM1 MCKD2 MGC1 MEHMO MDM MROS MHW1 MHW2 PRTS MRX14 PRS MRX20 MRX29 MCS MRX49 PGS WTS MRX72 MRX9 MRGH MRX58 MRXA MRX50 PPMX MRST SMRXS MRSD SRS MRSA MRXSAB MRXSA MRXSL MRXSSD SHS MRXS7 MCPH1 MCPH2 MCPH3 MCPH4 MCOR MHAC MCOP CHX10 MLS MHP2 MFTS MVP MPSH MBS2 MBS3 MYMY MWS GNPTA MEB MDC1B RSMD1 LGMD1A LGMD1B LGMD1D LGMD2H MDRV MPD1 MPD1 MPRM MYP1 MYP2 MYP3 DM2 NHS NNO1 NPHP3 NPHP2 IGAN NAPB NBIA1 HMSNO HSN1 NMSR CSNB1 TSG11 NYS1 NYS2 OB10 OQTL OA3 AIED OASD ODDD ODED OGS2 OPA2 OPA4 OFD1 OFC1 OFC2 OFC3 OHDS ODPF OADIP OASF OPTA2 OPPG LOH18CR1 OPD1 OTS ST8 PDB PPKB PBLT ST11 PHP PAPAS PALS PFM PARK3 PPND PKC PDR FPF JPD PCHC GPDS1 PFBI PKDTS PPS PORC PAPA2 ST12 PCBC PRCA1 PCAP HPCX PHA2B PHA2A PHA2C PSORS5 PSORS1 PSORS2 PSORS3 PSORS4 PSORS6 PTOS1 PTOS2 RWS RDPA GLYS1 RENS1 RCD2 RCD1 RNANC RP10 RP13 RP18 RP22 RP24 RP25 RP6 RP9 RIEG2 RMD1 RFMN MPS3C SPSMA SPPM SM1 SCZD5 SCZD9 SCZD2 SCZD1 SCZD4 SCZD7 SCZD10 SCZD6 SOST SCKL SCIDA SGBS2 STSL SCLC1 SMTPHN SPG10 SPG11 SPG12 SPG13 SPG14 SPG15 SPG3A SPG5A SPG6 SPG8 SPG9 SPCH1 SMA4 SMAD1 SMAX2 SMAL SMARD1 SCA13 SCA10 SCA11 SCA14 SCA5 IOSCA SHFM2 STGD2 STGD3 STGD4 SDTY1 SLEB1 TGCT1 TMIP THAS TCPT TCO THM TMD TAPVR1 GTS ETM1 MFT MTBS VSPA UFS USH1C USH1D USH1E USH3 USH1F USH2B VBCH VTSIP EVR1 VRNI VHL WS2B WSN WDM WWS WT3 WT4 WFS2 INDX WSS | chr range 19q13.2-q13.3 12q13 7q36 2p11.2-q12 12p13.3-p11.2 9q32 9p13-p12 11p15.5 Xp22 3p21 Xp22 Xq26.3-q27.1 15q11-q13 Xq21 5q31.1 2p14-p13 19cen-q13.2 12p11.23-q13.12 4q11-q21 Xq22-q28 9q34 9q21-q22 2q33-q35 15q15.1-q21.1 11q22-qter 15q13-q15 X Xq27-q28 4q28-q31 14q23-q24 1q42-q43 2q32.1-q32.3 3p23 10p14-p12 16p12-q21 5q35 Xp11.3-q11.2 Xq21.22-q24 19p13.3-p13.2 11p15 7q Xp11.23-q21.1 11q13 16q21 3p13-p12 15q22.3-q23 2q31 1p31 9q31 14q Xq24-q27 19q 9q34 18p 2q34-q36 3q22-q23 7p21-p13 9p22-p21 Xq28 2q37 2q35-q36 2q37 17p13.3 11q23 13q21 5q31-q33 17p12 Xq28 12q24 10q21-q23 3p25-p22 6q23 2q31 2q14-q22 6q23-q24 9q13 1q32 7q3 2p16 18q21.3 9p13 22q11 14q24-qter 17p13 17q24 16p13.3 1pter-p36.13 16q22.1 2q33-q35 1pter-p36.1 20p12-q12 6p Xp11.21-q21.3 19p13.3 7p15-p13 3q25.2-q27 9p12-q12 15q21-q23 11q13 11p15 19q13.1-q13.3 Xp22.2 Xp22.2 1p36-p35 3q13-q22 7p14 8q13-q21.1 5q23-q33 4p16.3 15q 5p 14q 9q21 2q33-q35 1p Xp11.2 17p 16q22 Xq21.3 2q32 8q22-q23 1q44 15q21.1 Xp11.3 Xq27 6cen-q14 18q21.1-q21.3 18q23-qter 20p11.2-q11.2 22q11 2q23-q24 5q14-q15 16p12-q12 1p36-p34.1 20p11.2-q11.2 10q24 3q26.3 Xq24-q26.1 Xp22 5p15.2-p14.1 4p16 7p21.3-p21.2 14q32 Xq22 Xp21.2 Xp22 6q22.2-q23.3 2q23-q24.3 22q12.2-q13.3 17q25 14q21-q22 4p16.3 4p16.3 1q21-q23 1q21-q23 10q21-q22 10q21-q22 7q34-q36 7q31 15q21-q22 7q31 11p15.1-p14 11p15.1-p14 11q25-qter 4q31 3p21-p14 3p21-p14 1q24 16q23-q24 3p11.1-q11.2 3p11.1-q11.2 4q 4q 3q21 Xp11 10p11-q11 14q24.3-q31 2q33 2q34 6q21 10q25 6q24-q27 18q21 2q31 6 6 20q12-q13.1 6q24 9p22-p21 22q11 22q11 9p21-q21 11p15.5 2q31 8q13 9q31-q33 9q31-q33 15q21 15q21 15q15.1-q15.3 15q15.1-q15.3 15q21 6p21.3 6p21.3 2p16-p15 7q21 19q13 18p 18p 19 19 10q26 13q13-q14.3 12q13-q21 5q31-q33 8q24 Xq22 8q24 15q14 6p 8q23.3-q24.11 15q24 10q23.3-q24.1 22q11-q12 Xp22.3 11q23 19p 15q11-q15 11q25 8q13-q21 19p13.3 22q12.1-q13.2 Xq12-q21.31 2p21 12p11.2-q12 11q13.2 16q24.2-q24.3 2q33-q37 13q14 9q13-q21 3q21-q24 8q23 10 7q35-q36 1p36.2-p36.1 17q21-q22 1q32 11q21-q22 1p22-p21 Xq28 14q Xp22 7p 20q13.11 Xq26 15q11-q15 4q28-q31 19q13.2-q13.3 5q31-q33 1q 6q22-q23 2q14-q21 11p14-p13 4q32.1 6q22.3-q23.1 7q36 11q12-q13 4q35 Xpter-p22.32 21q22.3 Xq28 20p 4p15.3 4q23 19q13.3-q13.4 11q23-q25 4q21 4q33-qter 1q23.3-q24 19q13 1p34.1-p32 15q25-q26 11p 1q21-q23 1q21-q32 12p12.2-p11.2 17q 15q Xq24-q27.1 11q23.3 3p22-p21.1 19p13.3 16q12.1 9q12-q22.2 Xq26-q27 1q42-q43 18p11.32-p11.23 8p21 6p21.3 3p21 2q33-q35 19p12-q12 19p13.2-p13.1 6p21.3 9p1-q1 Xp22.1-p21.3 16p12-q13 12p13.2-q24.1 6p 1p36 20p Xq28 11q23 9q34.3 1q42-q43 8p23-p22 Xp22.2-p22.13 5q11.2 8q22.2 21q22.3 3p21.1-p14.1 6p21.3-p21.2 6q11-q16 14q24 2 18p11.32 9q34 9p22-p21 16q22 13q14 21q11.2 2q34 3q27 3q27 19p13.2-q13.3 4q25-q27 16q24.3 1p22 18q11-q12 1q25-q31 8q24 7p21-p15 12q22 17q11.2-q24 3q13.1 1p36 Xq28 3p25-p24.2 22q12.3-q13.1 19q13.2-q13.4 16p12 Xq21.3-q22 Xp22.13-p21.1 8qter 9p11 4p 4q Xp22.2-p22.1 Xp11.3-q13.3 Xp11-q21 Xp11-q21 Xp22.3-p21.3 Xq13-q22 Xp22.3 Xq25-q27 Xp21.1-q22 Xq28 Xp21-q13 Xq24-q27.1 Xp22-q12 Xp11 Xp11.3-p11.21 Xq28 15q24 Xq26-q27 Xq28 Xp21 Xq24-q27.3 Xq13.2 Xq28 Xq28 Xp11.3-q21.3 Xp11-q21.3 Xp11.3-q22 8pter-p22 19q13.1-q13.2 9q34 15q15-q21 13q31-q32 16p13.3-p12.1 14q32 14q24.3 Xp22.31 1q21-q23 Xq 16p12.1-p11.2 6q 3q21-q22 10q21.3-q22.1 3p26-p24.2 1q44 4q21-q23 1p34-p32 1q42 1p36-p35 5q31 1q11-q21 7q 9q31-q34.1 19p13.3 14q 14q 2q24-q31 Xq28 18p11.31 12q21-q23 3q Xp22.3-p21.1 11p 3q22 9q22-q31 6q22-q23 17q25 20p13-p12.3 3q13.1 9q22.1-q22.3 10q23.2 Xp11.4 11q23 Xq26-q27 6p12 10p 20q13.11-q13.2 6q13-q15 Xp11.4-p11.23 Xp22.3 6q22-q24 2p24-p23 22q11.2 Xp11.4-p11.21 18q12.2-q12.3 Xp22.3-p22.2 6p24.3 2p13 19q13 18q Xq27.3-q28 2q12-q13 11q 1p21 11q12-q13 18q21-q22 Xq28 15q26.1-qter 6q26-q27 6p21.3 12q11-q13 6p21.3 3p25 Xq25-q26 15q24-q26.1 11q14 11p12-p11.12 2p13 17q21 16p11.2-q12.1 Xp22-p21 12p13 4q11-q13 1p 7q35-q36 5q31-q33 16p13.3 1q32 11q23.1 13q21-q32 10pter-q11 1p36 1q24-q25 1q42.2-q43 Xq27-q28 17q21-q22 1q31-q42 12p13 3q21 6p21.3 17q 4q 1cen-q21 19p13 1p34.1-p32 Xq24-q27.1 6p21.3 10pter-p11.2 6p21.3 Xp11.4-p11.2 17p 6q25-q26 10q21 7q31-q35 17p13.3 1p13-q23 16p12.3-p12.1 Xq26-q27 6q14-q21 Xp21.3-p21.2 7p15.1-p13 13q14 1q41 X 14 12q24.1-q24.31 12q13.3-q15 5q31-q33 6q13-q26 1q21-q22 11q14-q21 5q11.2-q13.3 22q11-q13 13q32 15q15 8p21 17q12-q21 3q22.1-q24 10p Xp22 2p21 3p23-p21 11q13 12q13 15q13-q15 19q13 2q24 3q27-q28 Xq11.2 14q11.2-q24.3 8p12-q13 15q11.1 8q23-q24 10q23.3-q24.1 7q31 12q24 7p Xp 12q23-q24 11q13-q21 19q13.3-q13.4 22q13 15q14-q21.3 19q13.4-qter 11p11-q11 10q24 Xq26 13q34 6cen-q14 4p 2q34-q36 1q41-q42 Xq27 14q13 Xq25-q26.1 11q23 19p13.2 8q24.1 2q31 4p13-q12 11q23 3q13 9p21 Xq Xp22.33 10q23-q24 11p15.1 10q 21q21 3q21-q25 10 3p24.2-p23 17q11.2 1q42-q43 11q13-q23 11q13 3p26-p25 1p21-p13.3 Xq28 2p13 Xq13-q21 16q 17q12-q21 4q22-q24 Xq26-qter 2q32 | chr 19 12 7 2 12 9 9 11 X 3 X X 15 X 5 2 19 12 4 X 9 9 2 15 11 15 X X 4 14 1 2 3 10 16 5 X X 19 11 7 X 11 16 3 15 2 1 9 14 X 19 9 18 2 3 7 9 X 2 2 2 17 11 7 5 17 X 12 10 3 6 2 2 6 9 1 7 2 18 9 22 14 17 17 16 1 16 2 1 20 6 X 19 7 3 9 15 11 11 19 X X 1 3 7 8 5 4 15 5 14 9 2 1 X 17 16 X 2 8 1 15 X X 6 18 18 20 22 2 5 16 1 20 10 3 X X 5 4 7 14 X X X 6 2 22 17 14 4 4 1 1 10 10 7 7 15 7 11 11 11 4 3 3 1 16 3 3 4 4 3 X 10 14 2 2 6 10 6 18 2 6 6 20 6 9 22 22 9 11 2 8 9 9 15 15 15 15 15 6 6 2 7 19 18 18 19 19 10 13 12 5 8 X 8 15 6 8 15 10 22 X 11 19 15 11 8 19 22 X 2 12 11 16 2 13 9 3 8 10 7 1 17 1 11 1 X 14 X 7 20 X 15 4 19 5 1 6 2 11 4 6 7 11 4 X 21 X 20 4 4 19 11 4 4 1 19 1 15 11 1 1 12 17 15 X 11 3 19 16 9 X 1 18 8 6 3 2 19 19 6 9 X 16 12 6 1 20 X 11 9 1 8 X 5 8 21 3 6 6 14 2 18 9 9 16 13 21 2 3 3 19 4 16 1 18 1 8 7 12 17 3 1 X 3 22 19 16 X X 8 9 4 4 X X X X X X X X X X X X X X X X 15 X X X X X X X X X X 8 19 9 15 13 16 14 14 X 1 X 16 6 3 10 3 1 4 1 1 1 5 1 7 9 19 14 14 2 X 18 12 3 X 11 3 9 6 17 20 3 9 10 X 11 X 6 10 20 6 X X 6 2 22 X 18 X 6 2 19 18 X 2 11 1 11 18 X 15 6 6 12 6 3 X 15 11 11 2 17 16 X 12 4 1 7 5 16 1 11 13 10 1 1 1 X 17 1 12 3 6 17 4 1 19 1 X 6 10 6 X 17 6 10 7 17 1 16 X 6 X 7 13 1 X 14 12 12 5 6 1 11 5 22 13 15 8 17 3 10 X 2 3 11 12 15 19 2 3 X 14 8 15 8 10 7 12 7 X 12 11 19 22 15 19 11 10 X 13 6 4 2 1 X 14 X 11 19 8 2 4 11 3 9 X X 10 11 10 21 3 10 3 17 1 11 11 3 1 X 2 X 16 17 4 X 2 | start q13.2 q13 q36 p11.2 p13.3 q32 p13 p15.5 p22 p21 p22 q26.3 q11 q21 q31.1 p14 cen p11.23 q11 q22 q34 q21 q33 q15.1 q22 q13 - q27 q28 q23 q42 q32.1 p23 p14 p12 q35 p11.3 q21.22 p13.3 p15 q p11.23 q13 q21 p13 q22.3 q31 p31 q31 q q24 q q34 p q34 q22 p21 p22 q28 q37 q35 q37 p13.3 q23 q21 q31 p12 q28 q24 q21 p25 q23 q31 q22 q24 q13 q32 q3 p16 q21.3 p13 q11 q24 p13 q24 p13.3 pter q22.1 q35 pter q12 p q21.3 p13.3 p13 q27 q12 q21 q13 p15 q13.3 p22.2 p22.2 p36 q13 p14 q13 q23 p16.3 q p q q21 q33 p p11.2 p q22 q21.3 q32 q22 q44 q21.1 p11.3 q27 cen q21.1 q23 p11.2 q11 q23 q14 p12 p36 p11.2 q24 q26.3 q24 p22 p15.2 p16 p21.3 q32 q22 p21.2 p22 q22.2 q23 q12.2 q25 q21 p16.3 p16.3 q21 q21 q21 q21 q34 q31 q21 q31 p15.1 p15.1 q25 q31 p21 p21 q24 q23 p11.1 p11.1 q q q21 p11 p11 q24.3 q33 q34 q21 q25 q24 q21 q31 - - q12 q24 p22 q11 q11 p21 p15.5 q31 q13 q31 q31 q21 q21 q15.1 q15.1 q21 p21.3 p21.3 p16 q21 q13 p p - - q26 q13 q13 q31 q24 q22 q24 q14 p q23.3 q24 q23.3 q11 p22.3 q23 p q11 q25 q13 p13.3 q12.1 q12 p21 p11.2 q13.2 q24.2 q33 q14 q13 q21 q23 - q35 p36.2 q21 q32 q21 p22 q28 q p22 p q13.11 q26 q11 q28 q13.2 q31 q q22 q14 p14 q32.1 q22.3 q36 q12 q35 pter q22.3 q28 p p15.3 q23 q13.3 q23 q21 q33 q23.3 q13 p34.1 q25 p q21 q21 p12.2 q q q24 q23.3 p22 p13.3 q12.1 q12 q26 q42 p11.32 p21 p21.3 p21 q33 p12 p13.2 p21.3 p1 p22.1 p12 p13.2 p p36 p q28 q23 q34.3 q42 p23 p22.2 q11.2 q22.2 q22.3 p21.1 p21.3 q11 q24 - p11.32 q34 p22 q22 q14 q11.2 q34 q27 q27 p13.2 q25 q24.3 p22 q11 q25 q24 p21 q22 q11.2 q13.1 p36 q28 p25 q12.3 q13.2 p12 q21.3 p22.13 qter p11 p q p22.2 p11.3 p11 p11 p22.3 q13 p22.3 q25 p21.1 q28 p21 q24 p22 p11 p11.3 q28 q24 q26 q28 p21 q24 q13.2 q28 q28 p11.3 p11 p11.3 pter q13.1 q34 q15 q31 p13.3 q32 q24.3 p22.31 q21 q p12.1 q q21 q21.3 p26 q44 q21 p34 q42 p36 q31 q11 q q31 p13.3 q q q24 q28 p11.31 q21 q p22.3 p q22 q22 q22 q25 p13 q13.1 q22.1 q23.2 p11.4 q23 q26 p12 p q13.11 q13 p11.4 p22.3 q22 p24 q11.2 p11.4 q12.2 p22.3 p24.3 p13 q13 q q27.3 q12 q p21 q12 q21 q28 q26.1 q26 p21.3 q11 p21.3 p25 q25 q24 q14 p12 p13 q21 p11.2 p22 p13 q11 p q35 q31 p13.3 q32 q23.1 q21 pter p36 q24 q42.2 q27 q21 q31 p13 q21 p21.3 q q cen p13 p34.1 q24 p21.3 pter p21.3 p11.4 p q25 q21 q31 p13.3 p13 p12.3 q26 q14 p21.3 p15.1 q14 q41 - - q24.1 q13.3 q31 q13 q21 q14 q11.2 q11 q32 q15 p21 q12 q22.1 p p22 p21 p23 q13 q13 q13 q13 q24 q27 q11.2 q11.2 p12 q11.1 q23 q23.3 q31 q24 p p q23 q13 q13.3 q13 q14 q13.4 p11 q24 q26 q34 cen p q34 q41 q27 q13 q25 q23 p13.2 q24.1 q31 p13 q23 q13 p21 q p22.33 q23 p15.1 q q21 q21 - p24.2 q11.2 q42 q13 q13 p26 p21 q28 p13 q13 q q12 q22 q26 q32 | stop q13.3 - - q12 p11.2 - p12 - - - - q27.1 q13 - - p13 q13.2 q13.12 q21 q28 - q22 q35 q21.1 qter q15 - q28 q31 q24 q43 q32.3 - p12 q21 - q11.2 q24 p13.2 - - q21.1 - - p12 q23 - - - - q27 - - - q36 q23 p13 p21 - - q36 - - - - q33 - - - q23 p22 - - q22 q24 - - - - - - - qter - - - p36.13 - q35 p36.1 q12 - q21.3 - p13 q27 q12 q23 - - q13.3 - - p35 q22 - q21.1 q33 - - - - - q35 - - - - - - q23 - - - - q14 q21.3 qter q11.2 - q24 q15 q12 p34.1 q11.2 - - q26.1 - p14.1 - p21.2 - - - - q23.3 q24.3 q13.3 - q22 - - q23 q23 q22 q22 q36 - q22 - p14 p14 qter - p14 p14 - q24 q11.2 q11.2 - - - - q11 q31 - - - - q27 - - - - q13.1 - p21 - - q21 - - - q33 q33 - - q15.3 q15.3 - - - p15 - - - - - - - q14.3 q21 q33 - - - - - q24.11 - q24.1 q12 - - - q15 - q21 - q13.2 q21.31 - q12 - q24.3 q37 - q21 q24 - - q36 p36.1 q22 - q22 p21 - - - - - - q15 q31 q13.3 q33 - q23 q21 p13 - q23.1 - q13 - p22.32 - - - - - q13.4 q25 - qter q24 - p32 q26 - q23 q32 p11.2 - - q27.1 - p21.1 - - q22.2 q27 q43 p11.23 - - - q35 q12 p13.1 - q1 p21.3 q13 q24.1 - - - - - - q43 p22 p22.13 - - - p14.1 p21.2 q16 - - - - p21 - - - - - - q13.3 q27 - - q12 q31 - p15 - q24 - - - p24.2 q13.1 q13.4 - q22 p21.1 - - - - p22.1 q13.3 q21 q21 p21.3 q22 - q27 q22 - q13 q27.1 q12 - p11.21 - - q27 - - q27.3 - - - q21.3 q21.3 q22 p22 q13.2 - q21 q32 p12.1 - - - q23 - p11.2 - q22 q22.1 p24.2 - q23 p32 - p35 - q21 - q34.1 - - - q31 - - q23 - p21.1 - - q31 q23 - p12.3 - q22.3 - - - q27 - - q13.2 q15 p11.23 - q24 p23 - p11.21 q12.3 p22.2 - - - - q28 q13 - - q13 q22 - qter q27 - q13 - - q26 q26.1 - p11.12 - - q12.1 p21 - q13 - q36 q33 - - - q32 q11 - q25 q43 q28 q22 q42 - - - - - q21 - p32 q27.1 - p11.2 - p11.2 - q26 - q35 - q23 p12.1 q27 q21 p21.2 p13 - - - - q24.31 q15 q33 q26 q22 q21 q13.3 q13 - - - q21 q24 - - - p21 - - q15 - - q28 - q24.3 q13 - q24 q24.1 - - - - q24 q21 q13.4 - q21.3 qter q11 - - - q14 - q36 q42 - - q26.1 - - - - q12 - - - - - q24 - - - q25 - p23 - q43 q23 - p25 p13.3 - - q21 - q21 q24 qter - | morbid_map_disease_name 3 methylglutaconicaciduria type III Achalasia addisonianism alacrimia Acheiropody Achromatopsia Acrocallosal syndrome Acrofacial dysostosis Nager type Acromesomelic dysplasia Maroteaux type Adrenocortical carcinoma hereditary 202300 Agammaglobulinemia type 2 Aicardi Goutieres syndrome 1 Aicardi syndrome Albinism deafness syndrome Albright hereditary osteodystrophy 2 Allan Herndon syndrome Allergy and asthma susceptibility Alstrom syndrome Alzheimer disease 2 late onset Alzheimer disease 5 Amelogenesis imperfecta 2 hypoplastic local type Amelogenesis imperfecta 3 hypoplastic type Amyotrophic lateral sclerosis 4 juvenile dom Amyotrophic lateral sclerosis ft dementia Amyotrophic lateral sclerosis juvenile Amytrophic lateral sclerosis 5 Anal canal carcinoma Andermann syndrome Angioneurotic edema hereditary Anophthalmos 1 Anterior segment mesenchymal dysgenesis Arrhythmogenic right ventricular dysplasia 1 Arrhythmogenic right ventricular dysplasia 2 Arrhythmogenic right ventricular dysplasia 4 Arrhythmogenic right ventricular dysplasia 5 Arrhythmogenic right ventricular dysplasia 6 Arthrocutaneouveal granulomatosis Arthrogryposis multiplex congenita neurogenic Arthrogryposis spinal muscular atrophy infantile Arts syndrome Atherosclerosis susceptibility to Atrophia areata Autism susceptibility to Autoimmunity immunodeficiency syndrome Bardet Biedl syndrome 1 Bardet Biedl syndrome 2 Bardet Biedl syndrome 3 Bardet Biedl syndrome 4 Bardet Biedl syndrome 5 Bartter syndrome infantile sensorineural deafness Basal cell carcinoma Basal ganglia calcification idiopathic Bazex syndrome Benign familial infantile convulsions Berardinelli Seip congenital lipodystrophy Bipolar affective disorder Bjornstad syndrome Blepharophimosis epicanthus inversus ptosis type 1 Blepharophimosis epicanthus inversus ptosis type 2 Bone dysplasia medullary fibrosarcoma Bornholm eye disease Brachydactyly mental retardation syndrome Brachydactyly type A1 Brachydactyly type E Breast cancer Breast cancer 3 Breast cancer type 4 Bronchial asthma Bruck syndrome Cardiac valvular dysplasia 1 Cardiofaciocutaneous syndrome 115150 Cardiomyopathy dilated 1C Cardiomyopathy dilated 1E Cardiomyopathy dilated 1F Cardiomyopathy dilated 1G Cardiomyopathy dilated 1H Cardiomyopathy dilated 1J Cardiomyopathy familial dilated 1B Cardiomyopathy familial dilated 2 Cardiomyopathy familial hypertrophic WPWh Carney complex type II Carnosinemia Cartilage hair hypoplasia Cat eye syndrome Cataract anterior polar 1 Cataract anterior polar 2 Cataract cerulean type 1 Cataract congenital microphthalmia Cataract congenital Volkmann type Cataract Marner type Cataract polymorphic congenital Cataract posterior polar Cataract posterior polar 3 Celiac disease Cerebellar ataxia 2 Cerebellar ataxia Cayman type Cerebral cavernous malformations 2 Cerebral cavernous malformations 3 Cerebral palsy ataxic autosomal recessive Ceroid lipofuscinosis neuronal 6 late infantile Cervical carcinoma Charcot Marie Tooth disease type 4B form 2 Charcot Marie Tooth disease type 4F Charcot Marie Tooth neuropathy Charcot Marie Tooth neuropathy Charcot Marie Tooth neuropathy 2A Charcot Marie Tooth neuropathy 2B Charcot Marie Tooth neuropathy 2D Charcot Marie Tooth neuropathy 4A Charcot Marie Tooth neuropathy demyelinating Cherubism Cholestasis lymphedema syndrome Chondrocalcinosis early onset osteoarthritis Chorea hereditary benign Choreoacanthocytosis Choreoathetosis familial paroxysmal Choreoathetosis/spasticity episodic Chorioathetosis with mental retardation ab behavior Choroidal dystrophy central areolar Cirrhosis North AmIndian childhood type Cleft palate Cleft palate isolated Cohen syndrome Cold urticaria familial Colorectal cancer susceptibility to 2 Cone dystrophy progressive 1 Cone dystrophy progressive 2 Cone rod dystrophy 7 Cone rod retinal dystrophy 1 Congenital cataract facial dysmorphism neuropathy Congenital hereditary endothelial dystrophy cornea Conotruncal cardiac anomalies Convulsions familial febrile 3 Convulsions familial febrile 4 Convulsions infantile and paroxysmal choreoathetosis Corneal dystrophy crystalline Schnyder Corneal dystrophy posterior polymorphous Corneal dystrophy Thiel Behnke type Cornelia de Lange syndrome Cowchock syndrome Craniofrontonasal dysplasia Craniometaphyseal dysplasia Craniosynostosis Adelaide type Craniosynostosis type 1 Creatine kinase brain ectopic expression Deafness 2 perceptive congenital Deafness 4 congenital sensorineural Deafness 6 sensorineural Deafness autosomal dominant 10 Deafness autosomal dominant 16 Deafness autosomal dominant 17 Deafness autosomal dominant 20 Deafness autosomal dominant 23 Deafness autosomal dominant 6 Deafness autosomal dominant 6 Deafness autosomal dominant 7 Deafness autosomal dominant 7 Deafness autosomal recessive 12 Deafness autosomal recessive 12 Deafness autosomal recessive 13 Deafness autosomal recessive 14 Deafness autosomal recessive 16 Deafness autosomal recessive 17 Deafness autosomal recessive 18 Deafness autosomal recessive 18 Deafness autosomal recessive 20 Deafness autosomal recessive 26 Deafness autosomal recessive 6 Deafness autosomal recessive 6 Deafness nonsyndromic modifier 1 Dehydrated hereditary stomatocytosis Dementia familial nonspecific Dementia familial nonspecific Dentin dysplasia type II Dentin dysplasia type II Dermatitis atopic Diabetes mellitus insulin dependent Diabetes mellitus insulin dependent 10 Diabetes mellitus insulin dependent 11 Diabetes mellitus insulin dependent 12 Diabetes mellitus insulin dependent 13 Diabetes mellitus insulin dependent 15 Diabetes mellitus insulin dependent 17 Diabetes mellitus insulin dependent 5 Diabetes mellitus insulin dependent 6 Diabetes mellitus insulin dependent 7 Diabetes mellitus insulin dependent neonatal Diabetes mellitus insulin dependent neonatal Diabetes mellitus noninsulin dependent 3 Diabetes mellitus transient neonatal Diaphyseal medullary stenosis fibrous histiocytoma DiGeorge syndrome DiGeorge syndrome Distal arthrogryposis 1 Distal arthrogryposis type 2B Duane retraction syndrome 2 Duane syndrome Dysautonomia familial Dysautonomia familial Dyserythropoietic anemia congenital type III Dyserythropoietic anemia congenital type III Dyserythropoietic anemia contenital type I Dyserythropoietic anemia contenital type I Dyslexia 1 Dyslexia specific 2 Dyslexia specific 2 Dyslexia specific 3 Dystonia 11 myoclonic Dystonia 12 Dystonia 7 torsion Dystonia 7 torsion Ectrodactyly ectodermal dysplasia cleft lip/palate 2 Ectrodactyly ectodermal dysplasia cleft lip/palate 2 Endometrial carcinoma Enuresis nocturnal 1 Enuresis nocturnal 2 Eosinophilia familial Epidermolysis bullosa Ogna Epilepsy female restricted mental retardation Epilepsy generalized idiopathic Epilepsy juvenile myoclonic Epilepsy juvenile myoclonic Epilepsy myoclonic benign adult familial Epilepsy nocturnal frontal lobe type 2 Epilepsy partial Epilepsy partial variable foci Episodic muscle weakness Erythrocytosis autosomal recessive benign Exostoses multiple type 3 Eye color brown Faisalabad histiocytosis Febrile convulsions familial 1 Febrile convulsions familial 2 Fechtner syndrome FG syndrome Fibromatosis gingival Fibrosis of extraocular muscles congenital 1 Fibrosis of extraocular muscles congenital 2 Fibrosis of extraocular muscles congenital 3 Finnish lethal neonatal metabolic syndrome Gastroesophageal reflux Geniospasm Glaucoma 1C primary open angle Glaucoma 1D primary open angle Glaucoma 1E primary open angle adult onset Glaucoma 1F Glaucoma 3 primary infantile B Gliosis familial progressive subcortical Glomerulopathy fibronectin Glomerulosclerosis focal segmental 2 Glomus tumors multiple Goeminne TKCR syndrome Goiter multinodular 1 Goiter multinodular 2 Goldenhar syndrome Graves disease susceptibility to 2 Gustavson syndrome Hair color brown Hair color red Heart block progressive familial type I Hemangioma capillary infantile Hemochromatosis type 2 Hepatic fibrosis susceptibility Schistosoma mansoni Hepatocellular carcinoma Hepatocellular carcinoma Hepatocellular carcinoma Hereditary persistence fetal hemoglobin heterocellular Hereditary persistence fetal hemoglobin Indian High bone mass Hip dysplasia Beukes Hodgkin disease susceptibility pseudoautosomal Holoprosencephaly 1 Homosexuality male Huntington like neurodegenerative disorder 1 Huntington like neurodegenerative disorder 2 Huriez syndrome Hydatidiform mole Hydrolethalus syndrome Hyper IgE syndrome Hypercalciuria absorptive Hypercalciuria absorptive 2 Hypercalciuric hypercalcemia type III Hypercholesterolemia familial 3 Hypercholesterolemia familial autosomal recessive Hyperlipidemia combined 2 Hyperlipidemia familial combined 1 Hyperparathyroidism jaw tumor syndrome Hypertension brachydactyly Hypertension essential susceptibility to 1 145500 Hypertension essential susceptibility to 2 Hypertrichosis congenital generalized Hypoalphalipoproteinemia primary Hypobetalipoproteinemia familial 2 Hypocalciuric hypercalcemia type II Hypodontia autosomal recessive Hypomagnesemia secondary hypocalcemia Hypoparathyroidism Hypoparathyroidism retardation dysmorphism Hypoptrichosis simplex Hypotrichosis Marie Unna Hypotrichosis simplex of scalp Ichthyosiforme erythroderma nonbullous 2 Ichthyosis lamellar type 2 Ichthyosis lamellar type 3 Ichthyosis nonlamellar and nonerythrodermic Immunoglobulin A deficiency Inclusion body myopathy autosomal recessive Infantile spasm syndrome Inflammatory bowel disease 1 Inflammatory bowel disease 2 Inflammatory bowel disease 3 Inflammatory bowel disease 7 Inosine triphosphatase deficiency Intestinal pseudoobstruction neuronal Jacobsen syndrome Joubert syndrome 1 Kenny Caffey syndrome 1 Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Klippel Feil syndrome Klippel Feil syndrome laryngeal malformation Knobloch syndrome Larsen syndrome autosomal dominant Laryngeal adductor paralysis Leber congenital amaurosis 5 Leber congenital amaurosis type III Leigh syndrome French Canadian Leiomyoma multiple hereditary cutaneous Lethal congenital contracture syndrome Leukemia acute lymphoblastic Leukemia acute myelogenous Leukemia chronic lymphocytic B cell Leukemia transient of Down syndrome Leukemia/lymphoma T cell Leukoencephalopathy vanishing white matter Limb mammary syndrome Liposarcoma Long QT syndrome 4 sinus bradycardia Lymphedema distichiasis Lymphoma follicular Lynch cancer family syndrome II Macular degeneration age related 1 Macular dystrophy atypical vitelliform Macular dystrophy dominant cystoid Male germ cell tumor Malignant hyperthermia susceptibility 2 Malignant hyperthermia susceptibility 4 Malignant melanoma cutaneous Manic depressive illness Marfan like connective tissue disorder May Hegglin anomaly Meconium ileus in cystic fibrosis susceptibility Medullary cystic kidney disease 2 Megalocornea MEHMO syndrome Meleda disease Melkersson Rosenthal syndrome Mental health wellness 1 Mental health wellness 2 Mental retardation 1 dystonic movements ataxia Mental retardation 14 Mental retardation 2 dysmorphism cerebral atrophy Mental retardation 20 Mental retardation 29 Mental retardation 4 contractures fingertip arches Mental retardation 49 Mental retardation 5 Dandy Walker malformation Mental retardation 6 gynecomastia and obesity Mental retardation 72 Mental retardation 9 Mental retardation isolated growth hormone Mental retardation nonspecific 58 Mental retardation nonspecific aphasia Mental retardation nonspecific type 50 Mental retardation psychosis pyr macroorchidism Mental retardation severe spasticity tapetoretinal Mental retardation Shashi Mental retardation skeletal dysplasia Mental retardation Snyder Robinson Mental retardation South African Mental retardation syndrome Abidi Mental retardation syndrome Armfield Mental retardation syndrome Lubs Mental retardation syndrome Siderius Mental retardation syndromic 3 spastic diplegia Mental retardation syndromic 7 Microcephaly autosomal recessive 1 Microcephaly autosomal recessive 2 Microcephaly primary autosomal recessive 3 Microcephaly primary autosomal recessive 4 Microcoria congenital Microhydranencephaly Microphthalmia autosomal recessive Microphthalmia cataracts and iris abnormalities Microphthalmia linear skin defects Migraine familial hemiplegic 2 Migraine familial typical susceptibility to 1 Mitral valve prolapse familial Mixed polyposis syndrome hereditary Moebius syndrome 2 Moebius syndrome 3 Moyamoya disease Muckle Wells syndrome Mucolipidosis III Muscle eye brain disease Muscular dystrophy congenital 1B Muscular dystrophy congenital spine rigidity Muscular dystrophy limb girdle type 1A Muscular dystrophy limb girdle type 1B Muscular dystrophy limb girdle type 1D Muscular dystrophy limb girdle type 2H Muscular dystrophy rimmed vacuoles Myopathy distal Myopathy distal Myopathy proximal early respiratory muscle Myopia 1 Myopia 2 Myopia 3 Myotonic dystrophy 2 Nance Horan syndrome Nanophthalmos 1 Nephronophthisis adolescent Nephronophthisis infantile Nephropathy IgA Neuralgic amyotrophy predilection brachial plexus Neurodegeneration brain iron accumulation Neuropathy hereditary motor and sensory Okinawa Neuropathy hereditary sensory and autonomic 1 Neuropathy motor and sensory Russe Night blindness congenital stationary 1 Nonsmall cell lung cancer Nystagmus 1 congenital Nystagmus 2 autosomal dominant Obesity susceptibility to 601665 Obesity/hyperinsulinism susceptibility to Ocular albinism autosomal recessive Ocular albinism Forsius Eriksson Ocular albinism sensorineural deafness Oculodentodigital dysplasia Oculodigitoesophagoduodenal syndrome Opitz G syndrome type II Optic atrophy Optic atrophy 4 Oral facial digital syndrome 1 Orofacial cleft 1 Orofacial cleft 2 Orofacial cleft 3 Orthostatic hypotensive disorder of Streeten Osseous dysplasia digital facial pibmentary frenula Osteoarthritis of distal interphalangeal joints Osteoarthritis susceptibility female specific Osteopetrosis AD type II Osteoporosis pseudoglioma syndrome Osteosarcoma 259500 Otopalatodigital syndrome type I Otosclerosis Ovarian cancer serous Paget disease of bone Palmoplantar keratoderma Bothnia Panbronchiolitis diffuse Pancreatic endocrine tumors Panhypopituitarism PAPA syndrome Papillon Lefevre syndrome Parietal foramina Parkinson disease type 3 Parkinsonism dementia pallidopontonigral Paroxysmal kinesigenic choreoathetosis Partington syndrome II Periodic fever familial Periodontitis juvenile Pheochromocytoma Pigment dispersion syndrome Plasmodium falciparum parasitemia intensity of Polycystic kidney infantile tuberous sclerosis Popliteal pterygium syndrome Porphyria Chester Postaxial polydactyly type A2 Prostate adenocarcinoma Prostate cancer brain cancer susceptibility Prostate cancer hereditary 1 176807 Prostate cancer hereditary 2 176807 Prostate cancer susceptibility Pseudohypoaldosteronism II Pseudohypoaldosteronism type II Pseudohypoaldosteronism type IIC Psoriasis susceptibility Psoriasis susceptibility 1 Psoriasis susceptibility 2 Psoriasis susceptibility 3 Psoriasis susceptibility to Psoriasis susceptibility to 177900 Ptosis hereditary congenital 1 Ptosis hereditary congenital 2 Ragweed sensitivity Refsum disease adult pipecolicacidemia Renal glucosuria Renpenning syndrome 1 Retinal cone dsytrophy 2 Retinal cone dystrophy 1 Retinal nonattachment nonsyndromic congenital Retinitis pigmentosa 10 Retinitis pigmentosa 13 Retinitis pigmentosa 18 Retinitis pigmentosa 22 Retinitis pigmentosa 24 Retinitis pigmentosa 25 Retinitis pigmentosa 6 Retinitis pigmentosa 9 Rieger syndrome type 2 Rippling muscle disease 1 Roifman syndrome Sanfilippo syndrome type C Scapuloperoneal spinal muscular atrophy New Eng Scapuloperoneal syndrome myopathic Schistosoma mansoni infection susceptibility Schizophrenia 181500 Schizophrenia 181500 Schizophrenia 181500 Schizophrenia 181500 Schizophrenia 181500 Schizophrenia 181500 Schizophrenia 181500 Schizophrenia 181500 Sclerosteosis Seckel sydnrome Severe combined immunodeficiency Athabascan Simpson Golabi Behmel syndrome type 2 Sitosterolemia Small cell cancer of lung Somatotrophinoma Spastic paraplegia 10 Spastic paraplegia 11 Spastic paraplegia 12 Spastic paraplegia 13 Spastic paraplegia 14 autosomal recessive Spastic paraplegia 15 complicated Spastic paraplegia 3A Spastic paraplegia 5A Spastic paraplegia 6 Spastic paraplegia 8 Spastic paraplegia 9 Speech language disorder 1 Spinal muscular atrophy 4 Spinal muscular atrophy distal upper limb Spinal muscular atrophy lethal infantile Spinal muscular atrophy nonprogressive lower limbs Spinal muscular atrophy respiratory distress 1 Spinocereballar ataxia 13 Spinocerebellar ataxia 10 Spinocerebellar ataxia 11 Spinocerebellar ataxia 14 Spinocerebellar ataxia 5 Spinocerebellar ataxia infantile onset sensory Split hand/foot malformation type 2 Stargardt disease 2 Stargardt disease 3 Stargardt disease 4 Syndactyly type 1 Systemic lupus erythematosus susceptibility 1 Testicular germ cell tumor Tetramelic mirror image polydactyly Thoracoabdominal syndrome Thrombocytopenia Paris Trousseau Thyroid carcinoma nonmedullary cell oxyphilia Tibial hemimelia Tibial muscular dystrophy Total anomalous pulmonary venous return Tourette syndrome Tremor familial essential 1 Trichoepithelioma multiple familial Tuberculosis susceptibility Turner syndrome associated neurocognitive Urofacial syndrome Usher syndrome type 1C 276904 Usher syndrome type 1D Usher syndrome type 1E Usher syndrome type 3 Usher syndrome type IF Usher syndrome type IIB Van Buchem disease Ventricular tachycardia stress induced polymorphic Vitreoretinopathy exudative familial Vitreoretinopathy neovascular inflammatory von Hippel Lindau syndrome Waardenburg syndrome type 2B Waisman parkinsonism mental retardation syndrome Welander distal myopathy Wieacker Wolff syndrome Wilms tumor type 3 Wilms tumor type 4 Wolfram syndrome 2 Wood neuroimmunologic syndrome Wrinkly skin syndrome |
12 Dec 00 webmasterCheck 1: A sort on the accession number revealed that 20 of 593 original entries were duplicated. The source of this problem was not traced -- it may ba a bug (or a perceived feature) in OMIM Morbid map, or an overlap on data extraction work sessions. At any rate, redundant entries were eliminated, leaving 573 entries with unique OMIM identifiers.
Which OMIM accession numbers were repeated? 602124 2 DYT7 18p Dystonia 7 torsion 602092 2 DFNB18 11p15.1-p14 Deafness autosomal recessive 18 602077 2 EEC2 19 Ectrodactyly ectodermal dysplasia cleft lip/palate 2 601412 2 DFNA7 1q21-q23 Deafness autosomal dominant 7 601386 2 DFNB12 10q21-q22 Deafness autosomal recessive 12 600971 2 DFNB6 3p21-p14 Deafness autosomal recessive 6 600965 2 DFNA6 4p16.3 Deafness autosomal dominant 6 600795 2 DMT1 3p11.1-q11.2 Dementia familial nonspecific 600202 2 DYX2 6p21.3 Dyslexia specific 2 600089 2 PBCA 6 Diabetes mellitus insulin dependent neonatal 310460 2 MYP1 Xq28 Bornholm eye disease 302801 2 CMTX2 Xp22.2 Charcot Marie Tooth neuropathy 224120 2 CDAN1 15q15.1-q15.3 Dyserythropoietic anemia contenital type I 223900 2 DYS 9q31-q33 Dysautonomia familial 188400 2 DGCR 22q11 DiGeorge syndrome 160500 2 MPD1 14q Myopathy distal 125420 2 DTDP2 4q Dentin dysplasia type II 112250 2 BDMF 9p22-p21 Bone dysplasia medullary fibrosarcoma 105600 2 CDAN3 15q21 Dyserythropoietic anemia congenital type IIICheck 2: Some entries are barely mapped, perhaps no better than to a whole chromosome, long arm, or short arm of a large chromosome. While details of the OMIM entry or further research (if any) might narrow the gene location, the 53 entries are of questionable utility, being whole chromosome (8 entries), long arm q (23), or short arm p (22)
53 of the 573 entries are not mapped suitably for disease gene discovery: omim chr morbid_map_disease_name 220111 2 Leigh syndrome French Canadian 600089 6 Diabetes mellitus insulin dependent neonatal 602432 10 Glaucoma 1E primary open angle adult onset 602083 10 Usher syndrome type IF 252930 14 Sanfilippo syndrome type C 602077 19 Ectrodactyly ectodermal dysplasia cleft lip/palate 2 300268 X Angioneurotic edema hereditary 300258 X Roifman syndrome 602390 1q Hemochromatosis type 2 602668 3q Myotonic dystrophy 2 603664 4q Mental health wellness 2 601454 4q Psoriasis susceptibility 3 125420 4q Dentin dysplasia type II 601228 6q Mixed polyposis syndrome hereditary 603511 7q Muscular dystrophy limb girdle type 1D 209850 7q Autism susceptibility to 601067 10q Usher syndrome type 1D 165720 11q Osteoarthritis susceptibility female specific 213600 14q Basal ganglia calcification idiopathic 160500 14q Myopathy distal 138800 14q Goiter multinodular 1 118700 14q Chorea hereditary benign 604329 15q Hypertension essential susceptibility to 2 214900 15q Cholestasis lymphedema syndrome 194090 16q Wilms tumor type 3 603918 17q Hypertension essential susceptibility to 1 145500 602723 17q Psoriasis susceptibility 2 143850 18q Orthostatic hypotensive disorder of Streeten 601764 19q Benign familial infantile convulsions 300259 Xq Tuberculosis susceptibility 300125 Xq Migraine familial typical susceptibility to 1 601042 1p Choreoathetosis/spasticity episodic 171300 1p Pheochromocytoma 603786 4p Stargardt disease 4 603663 4p Mental health wellness 1 118600 5p Chondrocalcinosis early onset osteoarthritis 604519 6p Inflammatory bowel disease 3 254770 6p Epilepsy juvenile myoclonic 212750 6p Celiac disease 600794 7p Spinal muscular atrophy distal upper limb 141400 7p Goldenhar syndrome 603188 10p Obesity susceptibility to 601665 602450 10p Severe combined immunodeficiency Athabascan 604499 11p Hyperlipidemia combined 2 600165 11p Nanophthalmos 1 601251 17p Retinal cone dsytrophy 2 215500 17p Choroidal dystrophy central areolar 602124 18p Dystonia 7 torsion 125480 18p Bipolar affective disorder 600209 19p Exostoses multiple type 3 603218 20p Huntington like neurodegenerative disorder 1 147520 20p Inosine triphosphatase deficiency 300021 Xp Spinal muscular atrophy lethal infantileCheck 3: An additional 31 entries are imprecisely mapped in that it is not known on which side of the centromere they occur, ie may be on either p or q arm. This precision may be sufficient provided other aspects of the disease are favorable.
omim chr start stop morbid_map_disease_name 600737 9 p1 q1 Inclusion body myopathy autosomal recessive 601942 10 p11 q11 Diabetes mellitus insulin dependent 10 600224 11 p11 q11 Spinocerebellar ataxia 5 309610 X p11 q21 Mental retardation 2 dysmorphism cerebral atrophy 300047 X p11 q21 Mental retardation 20 309470 X p11 q21.3 Mental retardation syndromic 3 spastic diplegia 600795 3 p11.1 q11.2 Dementia familial nonspecific 122000 20 p11.2 q11.2 Corneal dystrophy posterior polymorphous 121700 20 p11.2 q11.2 Congenital hereditary endothelial dystrophy cornea 135700 12 p11.2 q12 Fibrosis of extraocular muscles congenital 1 216900 2 p11.2 q12 Achromatopsia 128200 16 p11.2 q12.1 Paroxysmal kinesigenic choreoathetosis 602096 12 p11.23 q13.12 Alzheimer disease 5 304930 X p11.23 q21.1 Autoimmunity immunodeficiency syndrome 301830 X p11.3 q11.2 Arthrogryposis spinal muscular atrophy infantile 300062 X p11.3 q13.3 Mental retardation 14 300263 X p11.3 q21.3 Mental retardation syndrome Siderius 300218 X p11.3 q22 Mental retardation syndromic 7 602066 16 p12 q12 Convulsions infantile and paroxysmal choreoathetosis 604777 19 p12 q12 Ichthyosis lamellar type 3 266600 16 p12 q13 Inflammatory bowel disease 1 270800 8 p12 q13 Spastic paraplegia 5A 186580 16 p12 q21 Arthrocutaneouveal granulomatosis 106700 4 p13 q12 Total anomalous pulmonary venous return 601414 1 p13 q23 Retinitis pigmentosa 18 164953 19 p13.2 q13.3 Liposarcoma 601458 12 p13.2 q24.1 Inflammatory bowel disease 2 309549 X p21 q13 Mental retardation 9 108120 9 p21 q21 Distal arthrogryposis 1 309585 X p21.1 q22 Mental retardation 6 gynecomastia and obesity 300210 X p22 q12 Mental retardation nonspecific 58
19 Dec 00 webmaster researchNew inherited diseases are still being discovered, and old ones are being mapped to their respective genes. How fast is this occurring, which table entries are affected, how rapidly is the table attaining obsolescence?
The OMIM Update Log shows 1176 new entries over the calendar year 2000 (average 98 a month) with 6,327 annually edited existing entries (average 527 a month, about half of the current total of 12,128). Thus OMIM is very actively edited. No statistics are kept as to new partly mapped diseases or newly fully mapped diseases, though gene map loci totalled 6493 on 19 Dec 00. The time lag between identification of a disease journal and its appearance in OMIM can be very short or quite long or even missed.
NCBI maintains Morbid Map and various ftp downloads. There is no evidence of synchronicity between OMIM and updates of these derived products. NCBI also lags in developing RefSeqs for disease genes. For example, Morbid Map itself gives no clue as to when it was lasted updated to reflect the OMIM primary site. Its downloadable version is inexcusably out of synch.
Looking at the 36 new disease entries in the Dec 2000 update log, most merely recorded the identification and mapping of new human genes without an associated disease. Only 2 entries are relevent to the current project, which annualizes to 65 new partly mapped diseases per year from OMIM new entries:
need to be added: 605472 Usher Syndrome, Type IIC; USH2C 5q14.2-5q21.2 D5S428 88395068-88595068; D5S433 109751923-109951923 605463 Chr instability syndrome neurodegen 14q11.2 DNA ds breakage repair? no symbol candidate gene not quite tied to a known disease: 605452 ABCB6 2q36, lethal neonatal metabolic syndrome iron metabolism (603358) candidateThe 288 changed OMIM entries for the month of December 2000 are tedious to evaluate because the nature of the change can be buried deep within the article. However, the immediate issue is change in any of the OMIM accession numbers in the table above from partly mapped disease genes to fully mapped. Of the 288 updates, 36 referenced the partly mapped gene table:
-147061 5q31.1 +159000 Hauser MA (Sep 2000) identified a mutation in the myotilin gene (604103.0001) as the cause of LGMD1A. +210250 SITOSTEROLEMIA 2p21 ABCG8 gene (605460) or in the ABCG5 two adjacent, oppositely oriented genes ABC transporter, vague map position fails to have gene or protein family AC011242 unfinished -224120 15q15.1-q15.3 D15S779 and D15S778 the only known erythroid-specific gene mapped to this region was that for erythrocyte surface protein band 4.2 (EPB42; 177070). Sequence analysis of the coding region of the EPB42 gene revealed no mutations in the CDA I patients. -248310 5q31-q33 peak close to D5S658 +? 267750 21q22.3 COL18A1 gene (120328.0001). They identified a homozygous mutation at the AG consensus acceptor splice site of COL18A1 intron 1 exclusively in 12 KNO patients; the mutation was not found in 140 control chromosomes. failure to provide protein link ue to alternative splicing, the mutation creates a stop codon in exon 4, thus truncating the COL18A1 short form, which was otherwise expressed in human adult retina. -276905 3p24.2-p23 USHER SYNDROME, TYPE IIB; USH2B D3S1578, D3S3647, and D3S3658. Thus, the USH2B gene was mapped to a chromosomal region that overlaps the interval defined for the nonsyndromic sensorineural recessive deafness DFNB6 (600971), raising the possibility that a single gene underlies both defects. However, the audiometric features in the patients affected by USH2B and DFNB6 were quite different. -300266 Xq11.2 insertional knockout -305450 Xq12-q21.31 In 3 families with FGS1, Lossi et al. (2000) excluded 9 candidate genes that map to the same general region of Xq. -600807 5q31-q33 +603622 22q12.2-q13.3 Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am. J. Hum. Genet. 2000. Has locus link but not protein or gene, LL fails to have any info. -605225 1p36 D1S1597 - 605295 FIDGETIN; FIGN does not seem to be a human disease. human FIGN protein shares 97% identity with the mouse Fign protein - 605326 HUMAN T-CELL LEUKEMIA VIRUS TYPE 1-BINDING PROTEIN +605330 TAX1BP1 gene to chromosome 7 (WI-11921). disease? -605334 MOVED TO 300290 +605339 FXR2 gene to chromosome 17p13.1. seems like they have protein but not the gene. +605343 FSTL3 gene to chromosome 19p13. +605367 2 common missense variants in the ELAC2 needs better mapping just 17p. +605381 RHCG gene to 15q25. 11 exons. +605440 ATAXIN-1 UBIQUITIN-LIKE INTERACTING PROTEIN + 605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1 APM13q27. However, also by FISH, Schaffler et al. (1999) mapped the APM1 gene to 1q21.3-q23. By genomic sequence analysis, both groups determined that the gene spans 16 kb and contains 3 exons, and that the promoter lacks a TATA box. +?605446 RPGRIP1 gene spans a genomic interval of 34 kb and contains 15 exons. By somatic cell hybrid analysis and radiation hybrid analysis, Boylan and Wright (2000) and Roepman et al. (2000) mapped the RPGRIP1 gene to chromosome 14q11. Roepman et al. (2000) suggested that the localization of RPGRIP1 at 14q11 makes it a strong candidate gene for RP16. +605449 disease? maped poorly, protein known -605451 no disease protein known -605458 no disease protein known -605459 no disease protein known -605460 no disease protein known -605462 no real map data -605466 no disease protein known -605467 no disease protein known -605468 no disease protein known -605470 no disease protein known -605474 no disease protein known
19 Dec 00 webmaster researchCertain key journals publish new disease mapping results with each issue. Rather than wait for OMIM, and then NCBI, to catch up, it is worth scanning current issues to see how fast disease genes are being mappedl
Thus the Jan 2001 issue of Am. J. Hum. Genet. had the following relevent findings:
New partly mapped genes:
Other journals:
Hum Mol Genet. : looking at the most recent 100 articles from December 2000 and earlier:
Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum Mol Genet. 2000 Dec 12;9(20):3101-3110.These striking parallels in hypothalamic structure, emotional and cognitive-related behaviors strongly suggest that NECDIN is responsible for at least a subset of the multiple clinical manifestations of PWS.
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet. 2000 Dec 12;9(20):3037-3046.Carney complex (CNC) is an autosomal dominant multiple neoplasia syndrome, which has been linked to loci on 2p16 and 17q22-24. We recently reported that PRKAR1A, which codes for the type 1A regulatory subunit of protein kinase A (PKA), is a tumor suppressor gene on chromosome 17 that is mutated in some CNC families. We conclude that (i) genetic heterogeneity exists in CNC; and (ii) all of the CNC alleles on 17q are functionally null mutations of PRKAR1A. CNC is the first human disease recognized to be caused by mutations of the PKA holoenzyme, a critical component of cellular signaling.
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 2000 Dec 12;9(20):3019-3028.Lissencephaly is a cortical malformation secondary to impaired neuronal migration resulting in mental retardation, epilepsy and motor impairment. It shows a severity spectrum from agyria with a severely thickened cortex to posterior band heterotopia only. The LIS1 gene on 17p13.3 encodes a 45 kDa protein named PAFAH1B1 containing seven WD40 repeats. he LIS1 gene on 17p13.3 encodes a 45 kDa protein named PAFAH1B1 containing seven WD40 repeats. This protein is required for optimal neuronal migration by two proposed mechanisms: as a microtubule-associated protein and as one subunit of the enzyme platelet-activating factor acetylhydrolase. Approximately 65% of patients with isolated lissencephaly sequence (ILS) show intragenic mutations or deletions of the LIS1 gene. We hypothesize that the greater lissencephaly severity seen in Miller-Dieker syndrome may be secondary to the loss of another cortical development gene in the deletion of 17p13.3.
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet. 2000 Dec 12;9(20):3011-3018.Various types of mutation have been identified within the OA1 gene in patients with the disorder, including several missense mutations of unknown functional significance.
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet. 2000 Dec 12;9(20):2937-2945.ephrolithiasis (kidney stones) affects 5-10% of adults and is most commonly associated with hypercalciuria, which may be due to monogenic renal tubular disorders. One such hypercalciuric disorder is Dent's disease. Dent's disease is due to inactivating mutations of the renal-specific voltage-gated chloride channel, CLC-5.
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8.Delta(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to Delta(1)-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Here, we describe a newly recognized inborn error due to the deficiency of P5CS in two siblings with progressive neurodegeneration, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts. Their metabolic phenotype includes hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia. Both are homozygous for the missense mutation, R84Q, which alters a conserved residue in the P5CS gamma-glutamyl kinase domain. R84Q is not present in 194 control chromosomes and dramatically reduces the activity of both P5CS isoforms when expressed in mammalian cells. Additionally, R84Q appears to destabilize the long isoform. This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease.
Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia. Hum Mol Genet. 2000 Nov 22;9(19):2837-44.Low blood folate levels result in hyperhomocysteinemia, which has been associated with increased risk for cardiovascular disease, neural tube defects and cognitive deficits. Intake of dietary folates is the chief determinant of blood folate levels. Molecular defects in the intestinal absorption of dietary folates that precipitate low blood folate levels and hyperhomocysteinemia have not been investigated previously. Dietary folates are a mixture of polyglutamylated folates which are digested to monoglutamyl folates by the action of folylpoly-gamma-glutamate carboxypeptidase (FGCP), an enzyme that is anchored to the intestinal brush border membrane and is expressed by the glutamate carboxypepidase II (GCPII) gene. Low blood folate levels result in hyperhomocysteinemia, which has been associated with increased risk for cardiovascular disease, neural tube defects and cognitive deficits. Intake of dietary folates is the chief determinant of blood folate levels. Molecular defects in the intestinal absorption of dietary folates that precipitate low blood folate levels and hyperhomocysteinemia have not been investigated previously. Dietary folates are a mixture of polyglutamylated folates which are digested to monoglutamyl folates by the action of folylpoly-gamma-glutamate carboxypeptidase (FGCP), an enzyme that is anchored to the intestinal brush border membrane and is expressed by the glutamate carboxypepidase II (GCPII) gene.
Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a -786T-->C mutation associated with coronary spastic angina. Hum Mol Genet. 2000 Nov 1;9(18):2629-37.We recently reported that a mutation (-786T-->C) in the promoter region of the endothelial nitric oxide synthase (eNOS) gene reduced transcription of the gene and was strongly associated with coronary spastic angina and myocardial infarction. The purified protein was identical to replication protein A1 (RPA1), known as a single-stranded DNA binding protein essential for DNA repair, replication and recombination. RPA1 thus apparently functions as a repressor protein in the -786T-->C mutation-related reduction of eNOS gene transcription associated with the development of coronary artery disease.
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet. 2000 Nov 1;9(18):2599-608.Central core disease (CCD) and nemaline myopathy (NM) are congenital myopathies for which differential diagnosis is often based on the presence either of cores or rods. Missense mutations in the skeletal muscle ryanodine receptor gene (RYR1) have been identified in some families with CCD. Mutations in the alpha-tropomyosin and alpha-actin genes have been associated with most dominant forms of NM. This first report of a neomutation in the RYR1 gene has strong implications for genetic linkage studies of MHS or CCD, two diseases characterized by a genetic heterogeneity.
New mutations in MID1 provide support for loss of function as the cause of X-linked opitz syndrome. Hum Mol Genet. 2000 Oct 12;9(17):2553-62.Opitz syndrome (OS) is a genetically heterogeneous malformation disorder. Patients with OS may present with a variable array of malformations that are indicative of a disturbance of the primary midline developmental field. Mutations in the C-terminal half of MID1, an RBCC (RING, B-box and coiled-coil) protein, have recently been shown to underlie the X-linked form of OS. These new data and the finding of linkage to MID1 in the absence of a demonstrable open reading frame mutation in a further family support the conclusion that X-linked OS results from loss of function of MID1.
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet. 2000 Oct 12;9(17):2471-8.Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. Here we report the cloning of a novel transient receptor potential cation channel gene and show that this gene is mutated in patients with the disorder. ML4 encodes a protein, which we propose to call mucolipin, which has six predicted transmembrane domains and is a member of the polycystin II subfamily of the DROSOPHILA: transient receptor potential gene family.
Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. Hum Mol Genet. 2000 Oct;9(16):2377-82.The application of molecular genetics to haemochromatosis and experimental mutagenesis in animals has transformed our capacity to investigate the unique physiology of iron homeostasis-a key problem in biology and medicine. The identification of HFE, the principal determinant of adult haemochromatosis (HFE1; OMIM 235200) and TfR2, recently implicated in a rarer form of the inherited disorder (HFE3; OMIM 604250), and the promise of candidate genes for juvenile haemochromatosis (HFE2; OMIM 602390) and neonatal haemochromatosis (OMIM 231100) provide the foundation for important studies into the control mechanism of iron balance in humans. The rare conditions atransferrinaemia (OMIM 209300) and acaeruloplasminaemia (OMIM 604290), each associated with tissue iron overload, have already implicated the iron transport ligand transferrin and the copper transporter caeruloplasmin in the control of iron homeostasis. Gene mapping studies in animal mutants with anaemia due to defects in the uptake or tissue transfer of iron have yielded novel proteins involved in iron transport: DMT1 (brush border transporter of ferrous iron) in the mk/mk mouse, hephaestin (basolateral multi-copper ferroxidase) in the sex-linked anaemic mouse (sla) and ferroportin1 (basolateral iron exporter) in zebrafish weh mutants.
Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet. 2000 Oct;9(16):2365-75.The identification of mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) in Rett syndrome represents a major advance in the field.
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet. 2000 Sep 22;9(15):2321-8.Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease characterized by progressive eyelid drooping, swallowing difficulties and proximal limb weakness. The autosomal dominant form of the disease is caused by short (GCG)(8-13) expansions in the PABP2 gene. This gene encodes the poly(A) binding protein 2 (PABP2), an abundant nuclear protein that binds with high affinity to nascent poly(A) tails, stimulating their extension and controlling their length. This raises the possibility that in OPMD the polyalanine expansions in the PABP2 protein may interfere with the cellular traffic of poly(A) RNA.
Laforin, defective in the progressive myoclonus epilepsy of lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum Mol Genet. 2000 Sep 22;9(15):2251-61.The progressive myoclonus epilepsy of Lafora type is an autosomal recessive disorder caused by mutations in the EPM2A gene. EPM2A is predicted to encode a putative tyrosine phosphatase protein, named laforin, whose full sequence has not yet been reported. The full-length clone predicts a 38 kDa laforin that was very close to the size detected in transfected cells.
Identification of WTAP, a novel Wilms' tumour 1-associating protein. Hum Mol Genet. 2000 Sep 22;9(15):2231-9.The Wilms' tumour suppressor gene WT1 is essential for the normal development of the genitourinary system. We report the identification of a novel human WT1-associating protein, WTAP, which was isolated using the yeast two-hybrid system. Both in vitro and in vivo assays have shown that the interaction between WTAP and WT1 is specific and occurs endogenously in cells. The mouse homologue of WTAP was isolated and found to be >90% conserved at the nucleotide and protein levels. The human and mouse genes were mapped using fluorescence in situ hybridization to regions in chromosomes 6 (which is thought to harbour a tumour suppressor gene) and 17, respectively.
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet. 2000 Sep 22;9(15):2223-9.Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness, with pathological features suggesting an impairment in maturation of muscle fibres. The MTM1 gene encodes a protein (myotubularin) with a phosphotyrosine phosphatase consensus. It defines a family of at least nine genes in man, including the antiphosphatase hMTMR5/Sbf1 and hMTMR2, recently found mutated in a recessive form of Charcot-Marie-Tooth disease.
Interaction between LIS1 and doublecortin, two lissencephaly gene products. Hum Mol Genet. 2000 Sep 22;9(15):2205-13..Mutations in either LIS1 or DCX are the most common cause for type I lissencephaly. Here we report that LIS1 and DCX interact physically both in vitro and in vivo. J Med Genet fails to offer abstracts to medline
Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13.We have identified a one megabase deletion in the 15q22-15q23 region in a patient with autism, developmental delay, and mild dysmorphism. Genes that map within the deletion region and genes that are interrupted or rearranged at the deletion breakpoints are candidate genes for autism.
Three novel mutations of the proto-oncogene KIT cause human piebaldism.No abstract.
Localization of SRY by primed in situ labeling in XX and XY sex reversal. Contribution of connexin 26 mutations to nonsyndromic deafness in ashkenazi patients and the variable phenotypic effect of the mutation 167delT.Twenty-seven unrelated Jewish Ashkenazi patients with nonsyndromic prelingual deafness (NSD) were analyzed for mutations in the coding sequence of the connexin 26 (Cx26) gene. Biallelic mutations were identified in 19 of the 27 patients (70.4%); 12 were homozygous for the mutation 167delT, 2 were homozygous for the mutation 35delG, and 5 were compound 167delT/35delG heterozygotes.
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