OMIM Update List for October, 2003

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Nucleotide

Protein

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OMIM Update List for October, 2003

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October 31, 2003
New Entries:: 608217 EPILEPSY, BENIGN NEONATAL, 3; EBN3; 608218 KERATIN 20; KRT20; 608219 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38; 608221 FLJ14813 GENE
Changed Entries:: 106210 ANIRIDIA, TYPE II; AN2; 113705 BREAST CANCER 1 GENE; BRCA1; 118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC; 120355 MATRIX METALLOPROTEINASE 8; MMP8; 121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 133239 ESOPHAGEAL CANCER; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME; 137215 GASTRIC CANCER; 147522 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE B; ITPKB; 153440 LYMPHOTOXIN-ALPHA; LTA; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS;; 158105 SMALL INDUCIBLE CYTOKINE A2; SCYA2; 164750 OMPHALOCELE; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 172200 6-@PHOSPHOGLUCONATE DEHYDROGENASE, ERYTHROCYTE; PGD; 174763 POLYMERASE, DNA, GAMMA; POLG; 176640 PRION PROTEIN; PRNP; 179605 RETINAL DEGENERATION GENE, SLOW; RDS; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 184429 SRY-BOX 2; SOX2; 186852 PROTEASOME 26S SUBUNIT, ATPase, 3; PSMC3; 188000 THROMBOCYTOPENIA 2; THC2; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 231520 LE MERRER SYNDROME; 260350 PANCREATIC CARCINOMA; 273750 THREE M SYNDROME; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 313430 SRY-BOX 3; SOX3; 314310 TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3; 600174 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN; PITPN; 600725 SONIC HEDGEHOG; SHH; 600726 INDIAN HEDGEHOG; IHH; 600838 WINGED HELIX NUDE; WHN; 600979 LYMPHOTOXIN B RECEPTOR; LTBR; 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY; 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2; 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1; 601613 BURKITT LYMPHOMA RECEPTOR 1; BLR1; 601653 EYES ABSENT 1; EYA1; 601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1; 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; 602081 SPECIFIC LANGUAGE IMPAIRMENT; SLI; 602148 SRY-BOX 1; SOX1; 602398 DESMOSTEROLOSIS; 602647 NUCLEAR RNA EXPORT FACTOR 1; NXF1; 603165 DERMATITIS, ATOPIC; 604002 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 2; ROCK2; 604102 GLUTAMATE RECEPTOR, METABOTROPIC, 5; GRM5; 604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2; 604277 SPG4 GENE; SPG4; 604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1; 604798 HOMER, NEURONAL IMMEDIATE EARLY GENE, 1B; 605172 PROSTAGLANDIN E SYNTHASE; PTGES; 605476 PHOSPHOINOSITIDE 3-KINASE ENHANCER; 606016 KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606476 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC; 606879 PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH; 607111 SPG20 GENE; SPG20; 607358 AUTOIMMUNE REGULATOR; AIRE; 608179 CAYTAXIN; 608219 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38

October 30, 2003
New Entries:: 608177 EXOSTOSIN 1; EXT1; 608210 EXOSTOSIN 2; EXT2; 608214 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT; SCN3B; 608215 LIM HOMEO BOX GENE 6; LHX6; 608216 HYPERTENSION-RELATED CALCIUM-REGULATED GENE
Changed Entries:: 105590 ANAPLASTIC LYMPHOMA KINASE; ALK; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 133700 EXOSTOSES, MULTIPLE, TYPE I; 133701 EXOSTOSES, MULTIPLE, TYPE II; 143100 HUNTINGTON DISEASE; HD; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 150230 LANGER-GIEDION SYNDROME; LGS; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 182391 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, ALPHA SUBUNIT; SCN3A; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; 191160 TUMOR NECROSIS FACTOR; TNF; 215300 CHONDROSARCOMA; 239500 HYPERPROLINEMIA, TYPE I; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3; 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B; 600850 SCHIZOPHRENIA 4; SCZD4; 601613 BURKITT LYMPHOMA RECEPTOR 1; BLR1; 601738 EXOSTOSIN-LIKE 1; EXTL1; 602164 5-@HYDROXYTRYPTAMINE RECEPTOR 4; HTR4; 602411 EXOSTOSIN-LIKE 2; EXTL2; 604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1; 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13; 604675 PAIRED-RELATED HOMEO BOX GENE 2; PRRX2; 604856 LANGERHANS CELL HISTIOCYTOSIS; 605420 ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF; ALX4; 605744 EXOSTOSIN-LIKE 3; EXTL3; 605873 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 10; KCNK10; 606219 HEAT-SHOCK PROTEIN, 75-KD; 606441 PROTEASE, SERINE, 25; PRSS25; 606810 PROLINE DEHYDROGENASE; PRODH; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5; 608209 DIPEPTIDYL PEPTIDASE X; DPP10; Clinical Synopsis for 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; Clinical Synopsis for 190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3

October 29, 2003
New Entries:: 400028 NEUROLIGIN 4, Y-LINKED; NLGN4Y; 400029 HEAT-SHOCK TRANSCRIPTION FACTOR, Y-LINKED; HSFY; 400030 RIBOSOMAL PROTEIN S4, Y-LINKED, 2; RPS4Y2; 400031 CHROMOSOME Y OPEN READING FRAME 15A; CYORF15A; 400032 CHROMOSOME Y OPEN READING FRAME 15B; CYORF15B; 400033 TRANSDUCIN-BETA-LIKE 1, Y-LINKED; TBL1Y; 608212 LRG47, MOUSE, HOMOLOG OF; 608213 BM88 ANTIGEN
Changed Entries:: 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 123101 MUSCLE SEGMENT HOMEO BOX, DROSOPHILA, HOMOLOG OF, 2; MSX2; 123836 CYCLIN B1; CCNB1; 126450 DOPAMINE RECEPTOR D2; DRD2; 135630 INTEGRIN, BETA-1; ITGB1; 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 142409 HEPATOCYTE GROWTH FACTOR; HGF; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 155255 MEDULLOBLASTOMA; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 164860 MET PROTOONCOGENE; MET; 173650 KINDLER SYNDROME; 176640 PRION PROTEIN; PRNP; 180385 LIM DOMAIN ONLY 2; LMO2; 181500 SCHIZOPHRENIA; SCZD; 186745 TALIN 1; TLN1; 193525 WEE 1 TYROSINE KINASE; WEE1; 204600 MOVED TO 204500; 216400 COCKAYNE SYNDROME, TYPE I; CKN1; 248900 MAST SYNDROME; 270150 SJOGREN SYNDROME; 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1; 480100 TESTIS-SPECIFIC PROTEIN, Y-LINKED; TSPY; 600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS; 604065 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1G SUBUNIT; CACNA1G; 604605 HUNTINGTIN-ASSOCIATED PROTEIN-INTERACTING PROTEIN; HAPIP; 605414 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 7; ABCA7; 606236 ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1; 607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1; 607900 KINDLIN 1; 608181 ACIDIC CLUSTER PROTEIN, 33-KD; 608188 GCD10, S. CEREVISIAE, HOMOLOG OF; Clinical Synopsis for 204600 MOVED TO 204500

October 28, 2003
New Entries:: 300457 NHS GENE; NHS; 608207 KALA-AZAR, SUSCEPTIBILITY TO; KAZA; 608208 KIAA1399; 608209 DIPEPTIDYL PEPTIDASE X; DPP10; 608211 KIDNEY-ASSOCIATED ANTIGEN 1; KAAG1
Changed Entries:: 102560 ACTIN, GAMMA-1; ACTG1; 126141 DIPEPTIDYL PEPTIDASE VI; DPP6; 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 302350 CATARACT-DENTAL SYNDROME; 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20; 605755 RU2 GENE; 607014 HURLER SYNDROME; 607854 VITELLIFORM MACULAR DYSTROPHY GENE 2; VMD2; 608161 VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET; 608207 KALA-AZAR, SUSCEPTIBILITY TO; KAZA

October 28, 2003
New Entries:: 608206 KIAA1985
Changed Entries:: 148300 KERATOCONUS; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 177650 PSEUDOEXFOLIATION OF THE LENS; 191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU; 245590 LARON SYNDROME, TYPE II; 251260 NIJMEGEN BREAKAGE SYNDROME; 262500 PITUITARY DWARFISM II; 264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE; 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1; 600885 MOVED TO 251260; 602667 NBS1 GENE; NBS1; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 605526 ALZHEIMER DISEASE 6; 606154 MUCIN 16; MUC16; 608040 COILED-COIL DOMAIN-CONTAINING 2; CCDC2; 608206 KIAA1985

October 24, 2003
New Entries:: 608172 DEHYDRODOLICHYL DIPHOSPHATE SYNTHASE; DHDDS; 608181 ACIDIC CLUSTER PROTEIN, 33-KD; 608194 CONE-ROD DYSTROPHY 9; CORD9; 608197 PEPTIDOGLYCAN RECOGNITION PROTEIN, INTERMEDIATE, ALPHA; 608198 PEPTIDOGLYCAN RECOGNITION PROTEIN, INTERMEDIATE, BETA; 608199 PEPTIDOGLYCAN RECOGNITION PROTEIN, LONG; 608200 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1; CDK5RAP1; 608201 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2; 608202 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 3; CDK5RAP3; 608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME; 608204 UNC93, C. ELEGANS, HOMOLOG OF, B1; UNC93B1; 608205 NUCLEAR RECEPTOR-BINDING FACTOR 1
Changed Entries:: 109650 BEHCET SYNDROME; 113705 BREAST CANCER 1 GENE; BRCA1; 126452 DOPAMINE RECEPTOR D4; DRD4; 140300 HASHIMOTO THYROIDITIS; 146300 HYPOPHOSPHATASIA, ADULT TYPE; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 148300 KERATOCONUS; 150330 LAMIN A/C; LMNA; 155720 MELANOMA, UVEAL; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 173610 SELECTIN P; SELP; 177850 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT; PXE; 186940 CD4 ANTIGEN; CD4; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 248200 STARGARDT DISEASE 1; STGD1; 264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE; 275000 GRAVES DISEASE; 276901 USHER SYNDROME, TYPE IIA; USH2A; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 600165 NANOPHTHALMOS 1; NNO1; 600185 BREAST CANCER 2 GENE; BRCA2; 601015 NPC2 GENE; NPC2; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602049 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2; 602215 DEFENSIN, BETA, 4; DEFB4; 603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2; 604963 PEPTIDOGLYCAN RECOGNITION PROTEIN; PGLYRP; 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1; 606611 DEFENSIN, BETA, 103; DEFB103; 606761 MALONYL-CoA DECARBOXYLASE; MLYCD; 607623 NPC1 GENE; NPC1

October 23, 2003
New Entries:: 300455 RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; 608190 CAMELLO, XENOPUS, HOMOLOG OF, 2; 608191 RB-ASSOCIATED KRAB REPRESSOR; 608192 PROTEIN ASSOCIATED WITH THE C-TERMINAL DOMAIN OF EZRIN; 608193 REC8, S. POMBE, HOMOLOG OF; REC8L1; 608195 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 1; LRRC1; 608196 WERNER HELICASE-INTERACTING PROTEIN 1; WRNIP1
Changed Entries:: 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT; 190196 TRANSGLUTAMINASE 2; TGM2; 209900 BARDET-BIEDL SYNDROME; BBS; 277700 WERNER SYNDROME; WRN; 300389 RETINITIS PIGMENTOSA 3; RP3; 301050 ALPORT SYNDROME, X-LINKED; ATS; 303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1; 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY; 601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 606201 WOLFRAM SYNDROME GENE 1; WFS1; 606716 N-ACETYLTRANSFERASE 8; NAT8; 607180 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 2; LRRC2

October 22, 2003
New Entries:: 608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4
Changed Entries:: 143100 HUNTINGTON DISEASE; HD; 150330 LAMIN A/C; LMNA; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 165230 GLI-KRUPPEL FAMILY MEMBER 2; GLI2; 180200 RETINOBLASTOMA; RB1; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 300006 CENTRIN, EF-HAND PROTEIN, 2; CETN2; 300137 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 1; IGSF1; 300302 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE; TCTE1L; 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 600212 FATTY ACID SYNTHASE; FASN; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600679 DERMOID CYSTS, FAMILIAL FRONTONASAL; 600725 SONIC HEDGEHOG; SHH; 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY; 601442 COFILIN 1; CFL1; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 601742 TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28; 602368 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2; 604708 NUCLEAR FACTOR OF ACTIVATED T CELLS 5; NFAT5; 605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; 607554 ATRIAL FIBRILLATION, FAMILIAL; ATFB; 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5

October 21, 2003
New Entries:: 608183 CARBOHYDRATE SYNTHASE 1; CHSY1; 608185 SEC8, S. CEREVISIAE, HOMOLOG OF; 608186 SEC6, S. CEREVISIAE, HOMOLOG OF; 608187 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 8; MCM8; 608188 GCD10, S. CEREVISIAE, HOMOLOG OF
Changed Entries:: 103000 ADENYLATE KINASE 1; AK1; 110300 ABO BLOOD GROUP; ABO; 113000 BRACHYDACTYLY, TYPE B1; BDB1; 113705 BREAST CANCER 1 GENE; BRCA1; 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 161200 NAIL-PATELLA SYNDROME; NPS; 176270 PRADER-WILLI SYNDROME; PWS; 186852 PROTEASOME 26S SUBUNIT, ATPase, 3; PSMC3; 192430 VELOCARDIOFACIAL SYNDROME; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 227650 FANCONI ANEMIA; FA; 235730 HIRSCHSPRUNG DISEASE SYNDROME; 252800 ALPHA-L-IDURONIDASE; IDUA; 256100 NEPHRONOPHTHISIS 1; NPHP1; 300202 SEDLIN; SEDL; 307800 HYPOPHOSPHATEMIA, X-LINKED; 600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH; 600838 WINGED HELIX NUDE; WHN; 601696 NOVELTY SEEKING PERSONALITY TRAIT; 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2; 605802 ZINC FINGER HOMEO BOX 1B; ZFHX1B; 605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; ARHQ; 606018 EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN; 607014 HURLER SYNDROME; 608163 EXO70, S. CEREVISIAE, HOMOLOG OF; Mini-MIM for 113705 BREAST CANCER 1 GENE; BRCA1; Mini-MIM for 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; Mini-MIM for 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; Mini-MIM for 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; Mini-MIM for 176270 PRADER-WILLI SYNDROME; PWS; Mini-MIM for 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; Mini-MIM for 252800 ALPHA-L-IDURONIDASE; IDUA; Mini-MIM for 256100 NEPHRONOPHTHISIS 1; NPHP1

October 20, 2003
New Entries:: 608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1; 608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; 608176 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4; 608178 LEUCINE ZIPPER PROTEIN 2; LUZP2; 608182 POTASSIUM CHANNEL-INTERACTING PROTEIN 4
Changed Entries:: 600744 T-CELL TRANSCRIPTION FACTOR EB; TFEB; 603851 PAIRED-LIKE HOMEO BOX 2B; PHOX2B; 604102 GLUTAMATE RECEPTOR, METABOTROPIC, 5; GRM5; 604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1; 604660 POTASSIUM CHANNEL-INTERACTING PROTEIN 1; KCNIP1; 604661 POTASSIUM CHANNEL-INTERACTING PROTEIN 2; KCNIP2; 604662 CALSENILIN; CSEN; 604798 HOMER, NEURONAL IMMEDIATE EARLY GENE, 1B; 605476 PHOSPHOINOSITIDE 3-KINASE ENHANCER; 606352 ALSIN; 608182 POTASSIUM CHANNEL-INTERACTING PROTEIN 4

October 20, 2003
New Entries:: 607854 VITELLIFORM MACULAR DYSTROPHY GENE 2; VMD2; 608133 RETINITIS PIGMENTOSA, PERIPHERIN-RELATED; RP7; 608161 VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
Changed Entries:: 102490 ACRORENOOCULAR SYNDROME; 114240 CALPAIN 3; CAPN3; 120820 COMPLEMENT COMPONENT 4B; C4B; 123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 133780 EXUDATIVE VITREORETINOPATHY, FAMILIAL; EVR; 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 147045 Fc FRAGMENT OF IgA, RECEPTOR FOR; FCAR; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1; 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR; 169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM; 170710 PERIPHERIN; PRPH; 179605 RETINAL DEGENERATION GENE, SLOW; RDS; 180103 RETINITIS PIGMENTOSA 8; RP8; 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 191160 TUMOR NECROSIS FACTOR; TNF; 193400 VON WILLEBRAND DISEASE; 208900 ATAXIA-TELANGIECTASIA; AT; 212780 CENANI SYNDACTYLISM; 248200 STARGARDT DISEASE 1; STGD1; 268000 RETINITIS PIGMENTOSA; RP; 300029 RETINITIS PIGMENTOSA 15; RP15; 309850 MONOAMINE OXIDASE A; MAOA; 600132 RETINITIS PIGMENTOSA 14; RP14; 600852 RETINITIS PIGMENTOSA 17; RP17; 602666 MYOSIN XVA; MYO15A; 604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1; 604798 HOMER, NEURONAL IMMEDIATE EARLY GENE, 1B; 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5; 605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN; 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3; 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1; 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2; 607115 CINCA SYNDROME; CINCA; 607323 DUANE-RADIAL RAY SYNDROME; DRRS; 607335 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 1; VMD2L1; 607336 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 2; VMD2L2; 607337 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 3; VMD2L3; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607699 RING FINGER PROTEIN 20; RNF20; 607700 RING FINGER PROTEIN 40; RNF40

October 17, 2003
New Entries:: 607014 HURLER SYNDROME; 607015 HURLER-SCHEIE SYNDROME; 607016 SCHEIE SYNDROME; 608179 CAYTAXIN
Changed Entries:: 114240 CALPAIN 3; CAPN3; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY; 230000 FUCOSIDOSIS; 236600 HYDROCEPHALUS; 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; 252800 ALPHA-L-IDURONIDASE; IDUA; 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; 253010 MUCOPOLYSACCHARIDOSIS TYPE IVB; 256150 NEPHROSIALIDOSIS; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 530000 KEARNS-SAYRE SYNDROME; KSS; 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 606156 SENER SYNDROME; 607014 HURLER SYNDROME

October 16, 2003
New Entries:: Clinical Synopsis for 607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME
Changed Entries:: 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1; 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 141250 HEME OXYGENASE 1; HMOX1; 143100 HUNTINGTON DISEASE; HD; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2; 170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA; 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 186780 CD3 ANTIGEN, ZETA SUBUNIT; CD3Z; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 191525 URACIL-DNA GLYCOSYLASE; UNG; 194355 X BOX-BINDING PROTEIN 1; XBP1; 209900 BARDET-BIEDL SYNDROME; BBS; 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; 254780 MYOCLONIC EPILEPSY OF LAFORA; 304110 CRANIOFRONTONASAL SYNDROME; CFNS; 600065 INTEGRIN, BETA-2; ITGB2; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 602354 LINKER FOR ACTIVATION OF T CELLS; LAT; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ; 605644 KALLIKREIN 8; KLK8; 607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; 607924 ALPHA GENE; 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1; 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; 608111 PHD FINGER PROTEIN 9; PHF9; 608132 TETRATRICOPEPTIDE REPEAT DOMAIN 8; TTC8; Clinical Synopsis for 607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME

October 15, 2003
New Entries:: 608160 SRY-BOX 9; SOX9; 608171 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 4; CACNA2D4
Changed Entries:: 114290 CAMPOMELIC DYSPLASIA; 116935 MOVED TO 602783; 133430 ESTROGEN RECEPTOR 1; ESR1; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 181000 SARCOIDOSIS; 188400 DIGEORGE SYNDROME; DGS; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 233420 GONADAL DYSGENESIS, XY TYPE; 245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS; 269600 SEA-BLUE HISTIOCYTE DISEASE; 301300 ANEMIA, SIDEROBLASTIC, X-LINKED; 600805 LAMININ, ALPHA-3; LAMA3; 600898 SRY-BOX 11; SOX11; 600957 ANTI-MULLERIAN HORMONE; AMH; 601297 SRY-BOX 15; SOX15; 601663 ESTROGEN RECEPTOR 2; ESR2; 602770 CHROMOBOX HOMOLOG 2, DROSOPHILA POLYCOMB CLASS; CBX2; 602783 SPASTIC PARAPLEGIA 7 GENE; SPG7; 603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2; 604975 SRY-BOX 5; SOX5; 605923 SRY-BOX 8; SOX8; 606352 ALSIN; 607257 SRY-BOX 6; SOX6; Clinical Synopsis for 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP

October 14, 2003
New Entries:: 608162 B7 HOMOLOG 4; 608163 EXO70, S. CEREVISIAE, HOMOLOG OF; 608164 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 1; KCNV1; 608165 CED6, C. ELEGANS, HOMOLOG OF; 608166 SEMAPHORIN 3E; SEMA3E; 608167 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1; 608168 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 6; KCNH6; 608169 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 7; KCNH7; 608170 DEAD/H BOX 41; DDX41; Clinical Synopsis for 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; Clinical Synopsis for 608022 VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS; Clinical Synopsis for 608028 THAI SYMPHALANGISM SYNDROME; Clinical Synopsis for 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; Clinical Synopsis for 608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND
Changed Entries:: 103320 AGRIN; AGRN; 123831 CYCLIN-DEPENDENT KINASE 5; CDK5; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 127750 DEMENTIA, LEWY BODY; DLB; 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP; 134797 FIBRILLIN 1; FBN1; 136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 159440 MYELIN PROTEIN ZERO; MPZ; 160900 DYSTROPHIA MYOTONICA 1; 162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE; 173650 KINDLER SYNDROME; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 209900 BARDET-BIEDL SYNDROME; BBS; 224050 DYSEQUILIBRIUM SYNDROME; DES; 300032 ATR-X GENE; ATRX; 300171 MYOTUBULARIN-RELATED PROTEIN 1; MTMR1; 600119 SARCOGLYCAN, ALPHA; SGCA; 600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 600764 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1; 600869 G PROTEIN-COUPLED RECEPTOR KINASE 6; GPRK6; 601277 ICHTHYOSIS, LAMELLAR, 2; LI2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602081 SPECIFIC LANGUAGE IMPAIRMENT; SLI; 602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2; 604454 WELANDER DISTAL MYOPATHY; WDM; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605755 RU2 GENE; 605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; ARHQ; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 1; 606597 PAIRED BOX GENE 3; PAX3; 607379 NEUROFIBROMIN 2; NF2; 607725 ADP-RIBOSYLTRANSFERASE-LIKE 2; ADPRTL2; 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12; 607925 B- AND T-LYMPHOCYTE ATTENUATOR; 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; Clinical Synopsis for 207750 APOLIPOPROTEIN C-II DEFICIENCY; Clinical Synopsis for 256600 NEUROAXONAL DYSTROPHY, INFANTILE; Clinical Synopsis for 600119 SARCOGLYCAN, ALPHA; SGCA

October 10, 2003
Changed Entries:: 116955 ZINC FINGER PROTEIN 9; ZNF9; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 133430 ESTROGEN RECEPTOR 1; ESR1; 143100 HUNTINGTON DISEASE; HD; 146734 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 5; IGFBP5; 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1; 226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS; 600140 CREB-BINDING PROTEIN; CREBBP; 602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL; 603680 SPINOCEREBELLAR ATAXIA 8; SCA8; 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1; 604982 HPS1 GENE; HPS1; 605335 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 1; PHLDA1; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605434 CLASPIN, XENOPUS, HOMOLOG OF; 606682 HPS4 GENE; HPS4; 608044 SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8

October 9, 2003
New Entries:: 608156 NABLUS MASK-LIKE FACIAL SYNDROME; 608157 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER),; 608158 CoQ-RESPONSIVE OXPHOS DEFICIENCY; 608159 PROTEASE, SERINE, 21; PRSS21
Changed Entries:: 101200 APERT SYNDROME; 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME; 125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF; 154700 MARFAN SYNDROME; MFS; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; 251000 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY; 600036 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 1; OTX1; 602218 SAL-LIKE 1; SALL1; 605899 GLYCINE ENCEPHALOPATHY; GCE; 607623 NPC1 GENE; NPC1; 608132 TETRATRICOPEPTIDE REPEAT DOMAIN 8; TTC8; 608157 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER),; Clinical Synopsis for 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP

October 8, 2003
New Entries:: 300456 CYCLIN B3; CCNB3; 608150 PERIPHILIN 1; PPHLN1; 608151 WD REPEAT-CONTAINING PROTEIN 19; WDR19; 608152 PROSTAGLANDIN E SYNTHASE 2; PTGES2; 608153 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14A; PPP1R14A; 608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT; 608155 SYNAPTOPODIN; Clinical Synopsis for 607850 HAND OSTEOARTHRITIS; HOA; Clinical Synopsis for 607872 MONOSOMY 1p36 SYNDROME
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 107741 APOLIPOPROTEIN E; APOE; 107930 AROMATIC L-AMINO ACID DECARBOXYLASE; AADC; 111300 BLOOD GROUP--MN LOCUS; MN; 111750 BLOOD GROUP--SCIANNA SYSTEM; Sc; 113810 BULLOUS PEMPHIGOID ANTIGEN 1; BPAG1; 116806 CATENIN, BETA-1; CTNNB1; 119580 BLEPHAROCHEILODONTIC SYNDROME; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 121300 COPROPORPHYRIA; 125647 DESMOPLAKIN; DSP; 142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G; 146000 HYPOCHONDROPLASIA; HCH; 156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR; 171885 PHOSPHODIESTERASE 7A, cAMP-SPECIFIC, HIGH-AFFINITY; PDE7A; 177170 PSEUDOACHONDROPLASTIC DYSPLASIA; 182100 FUCOSYLTRANSFERASE 2; FUT2; 207900 ARGININOSUCCINICACIDURIA; 222448 DONNAI-BARROW SYNDROME; 236200 HOMOCYSTINURIA; 254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 261600 PHENYLKETONURIA; 262780 MOVED TO 107910; 276600 TYROSINE TRANSAMINASE DEFICIENCY; 277900 WILSON DISEASE; 305650 REMOVED FROM DATABASE; 309400 MENKES DISEASE; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D; 600138 RETINITIS PIGMENTOSA 11; RP11; 600302 FRYNS MACROCEPHALY; 600590 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, BETA ISOFORM; PPP1CB; 601282 PLECTIN 1; PLEC1; 601367 STROKE; 601590 ENVOPLAKIN; EVPL; 602568 METHIONINE SYNTHASE REDUCTASE; MTRR; 602625 BAI1-ASSOCIATED PROTEIN 1; BAIAP1; 602755 CYCLIN B2; CCNB2; 602871 PERIPLAKIN; PPL; 603377 SOLUTE CARRIER FAMILY 22, MEMBER 5; SLC22A5; 603886 ARTEMIN; ARTN; 604638 ACTININ, ALPHA-4; ACTN4; 605511 TRANSMEMBRANE PROTEASE, SERINE 3; TMPRSS3; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31; 606799 STROKE, SUSCEPTIBILITY TO, 1; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607130 REGULATORY ASSOCIATED PROTEIN OF MTOR; 607278 OSTEOFIBROUS DYSPLASIA; 607623 NPC1 GENE; NPC1; 607872 MONOSOMY 1p36 SYNDROME; Clinical Synopsis for 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; Clinical Synopsis for 173650 KINDLER SYNDROME; Clinical Synopsis for 210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; Clinical Synopsis for 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA; Clinical Synopsis for 262780 MOVED TO 107910; Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS; Clinical Synopsis for 305650 REMOVED FROM DATABASE; Clinical Synopsis for 309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS

October 6, 2003
New Entries:: 607853 PANIC DISORDER 1; 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 608146 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 608147 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 5; TUBGCP5; 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2; 608149 UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14; Clinical Synopsis for 607488 DYSTONIA 15, MYOCLONIC; DYT15; Clinical Synopsis for 607859 ANGIOMA, TUFTED; Clinical Synopsis for 607920 CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 102700 ADENOSINE DEAMINASE; ADA; 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; 103600 ALBUMIN; ALB; 103710 ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5; 104150 ALPHA-FETOPROTEIN; AFP; 105150 AMYLOIDOSIS VI; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 105830 ANGELMAN SYNDROME; AS; 107680 APOLIPOPROTEIN A-I; APOA1; 107741 APOLIPOPROTEIN E; APOE; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 110300 ABO BLOOD GROUP; ABO; 111300 BLOOD GROUP--MN LOCUS; MN; 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE; 113705 BREAST CANCER 1 GENE; BRCA1; 114480 BREAST CANCER; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 116806 CATENIN, BETA-1; CTNNB1; 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 118450 ALAGILLE SYNDROME; AGS; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120810 COMPLEMENT COMPONENT 4A; C4A; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 123900 VILLIN 2; VIL2; 124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 128235 DYSTONIA 12; DYT12; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 133700 EXOSTOSES, MULTIPLE, TYPE I; 134570 FACTOR XIII, A1 SUBUNIT; F13A1; 134797 FIBRILLIN 1; FBN1; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 136490 MOVED TO 103710; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 138079 GLUCOKINASE; GCK; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 139250 GROWTH HORMONE 1; GH1; 139320 GNAS COMPLEX LOCUS; GNAS; 140300 HASHIMOTO THYROIDITIS; 141749 HEMOGLOBIN F, HEREDITARY PERSISTENCE OF, PANCELLULAR; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142000 HEMOGLOBIN--DELTA LOCUS; HBD; 142200 HEMOGLOBIN, GAMMA A; HBG1; 142250 HEMOGLOBIN, GAMMA G; HBG2; 142470 HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN; 142623 HIRSCHSPRUNG DISEASE; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA; 142900 HOLT-ORAM SYNDROME; HOS; 142950 HOMEO BOX A7; HOXA7; 143100 HUNTINGTON DISEASE; HD; 144700 RENAL CELL CARCINOMA 1; RCC1; 145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1; 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1; 146510 PALLISTER-HALL SYNDROME; PHS; 146880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147100 IgG HEAVY CHAIN LOCUS; IGHG1; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 147521 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE A; ITPKA; 147522 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE B; ITPKB; 147670 INSULIN RECEPTOR; INSR; 147683 INTERLEUKIN 13; IL13; 148040 KERATIN 5; KRT5; 150000 LACTATE DEHYDROGENASE-A; LDHA; 150230 LANGER-GIEDION SYNDROME; LGS; 151410 BREAKPOINT CLUSTER REGION; BCR; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 152200 APOLIPOPROTEIN(a); LPA; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 153440 LYMPHOTOXIN-ALPHA; LTA; 154700 MARFAN SYNDROME; MFS; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 156100 MENINGIOMA 1 GENE; MN1; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS;; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 159440 MYELIN PROTEIN ZERO; MPZ; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 160900 DYSTROPHIA MYOTONICA 1; 160980 CARNEY COMPLEX, TYPE 1; CNC1; 161400 NARCOLEPSY; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 163950 NOONAN SYNDROME 1; NS1; 164160 LEPTIN; LEP; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164761 RET PROTOONCOGENE; RET; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 167870 PANIC DISORDER; 168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1; 170100 PEPTIDASE D; PEPD; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 171300 PHEOCHROMOCYTOMA; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 173900 POLYCYSTIC KIDNEYS; 174763 POLYMERASE, DNA, GAMMA; POLG; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176000 PORPHYRIA, ACUTE INTERMITTENT; 176100 PORPHYRIA CUTANEA TARDA; 176200 PORPHYRIA VARIEGATA; 176270 PRADER-WILLI SYNDROME; PWS; 176300 TRANSTHYRETIN; TTR; 176640 PRION PROTEIN; PRNP; 176730 INSULIN; INS; 176801 PROSAPOSIN; PSAP; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 176880 PROTEIN S, ALPHA; PROS1; 176920 PROTEUS SYNDROME; 176930 COAGULATION FACTOR II; F2; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 177400 BUTYRYLCHOLINESTERASE; BCHE; 179605 RETINAL DEGENERATION, SLOW; RDS; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 180200 RETINOBLASTOMA; RB1; 180380 RHODOPSIN; RHO; 180849 RUBINSTEIN SYNDROME; 180901 RYANODINE RECEPTOR 1; RYR1; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 184429 SRY-BOX 2; SOX2; 185861 SYNAPTIC VESICLE GLYCOPROTEIN 2B; SV2B; 186780 CD3 ANTIGEN, ZETA SUBUNIT; CD3Z; 187600 THANATOPHORIC DYSPLASIA; TD; 188400 DIGEORGE SYNDROME; DGS; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 190685 DOWN SYNDROME; 191100 TUBEROUS SCLEROSIS; TS; 191160 TUMOR NECROSIS FACTOR; TNF; 191170 TUMOR PROTEIN p53; TP53; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 192340 ARGININE VASOPRESSIN; AVP; 192500 LONG QT SYNDROME 1; LQT1; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY; 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 205900 DIAMOND-BLACKFAN ANEMIA; DBA; 207750 APOLIPOPROTEIN C-II DEFICIENCY; 207800 ARGININEMIA; 208400 ASPARTYLGLUCOSAMINURIA; 208900 ATAXIA-TELANGIECTASIA; AT; 209900 BARDET-BIEDL SYNDROME; BBS; 210900 BLOOM SYNDROME; BLM; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; 219700 CYSTIC FIBROSIS; CF; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 227650 FANCONI ANEMIA; FA; 230000 FUCOSIDOSIS; 230200 GALACTOKINASE DEFICIENCY; 232200 GLYCOGEN STORAGE DISEASE I; 244400 KARTAGENER SYNDROME; 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY; 251000 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY; 252600 MUCOLIPIDOSIS IIIA; 261600 PHENYLKETONURIA; 272800 TAY-SACHS DISEASE; TSD; 275000 GRAVES DISEASE; 275200 THYROTROPIN, UNRESPONSIVENESS TO; 300100 ADRENOLEUKODYSTROPHY; ALD; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS; 300800 MOVED TO 103580; 306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY; 306700 HEMOPHILIA A; 309400 MENKES DISEASE; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY; EDMD; 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC; 313430 SRY-BOX 3; SOX3; 313700 ANDROGEN RECEPTOR; AR; 480000 SEX-DETERMINING REGION Y; SRY; 516020 CYTOCHROME b OF COMPLEX III; MTCYB; 600119 SARCOGLYCAN, ALPHA; SGCA; 600377 GALANIN RECEPTOR 1; GALR1; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 600979 LYMPHOTOXIN B RECEPTOR; LTBR; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D; 601665 OBESITY; 601785 PHOSPHOMANNOMUTASE 2; PMM2; 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1; 602148 SRY-BOX 1; SOX1; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602668 DYSTROPHIA MYOTONICA 2; DM2; 603018 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 2;; 603093 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1;; 603094 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3;; 603196 COCHLIN; COCH; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603854 RAN-BINDING PROTEIN 9; RANBP9; 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; 604927 C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF,; 605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1; 606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2; 606092 DOPAMINE RECEPTOR-INTERACTING PROTEIN, 78-KD; 606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3; 606232 CHROMOSOME 22q13.3 DELETION SYNDROME; 606322 CYTOPLASMIC FMRP INTERACTING PROTEIN 1; 606476 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC; 606596 FUKUTIN-RELATED PROTEIN; 606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C; 606879 PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH; 607154 ALLERGIC RHINITIS; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 607358 AUTOIMMUNE REGULATOR; AIRE; 607488 DYSTONIA 15, MYOCLONIC; DYT15; 607834 NEUROTICISM; 607853 PANIC DISORDER 1; 607859 ANGIOMA, TUFTED; 607920 CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY; 608025 NEUROBLASTOMA-AMPLIFIED GENE; 608028 THAI SYMPHALANGISM SYNDROME; Clinical Synopsis for 118400 CHERUBISM; Clinical Synopsis for 174050 POLYCYSTIC LIVER DISEASE; PCLD; Clinical Synopsis for 265100 PULMONARY ALVEOLAR MICROLITHIASIS; Clinical Synopsis for 607671 DYSTONIA 13, TORSION; DYT13

October 1, 2003
New Entries:: 608142 HSC20, E. COLI, HOMOLOG OF; 608143 LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-ZETA; 608144 PROSTATE EPITHELIUM-SPECIFIC ETS TRANSCRIPTION FACTOR
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 120355 MATRIX METALLOPROTEINASE 8; MMP8; 164210 HEMIFACIAL MICROSOMIA; HFM; 191525 URACIL-DNA GLYCOSYLASE; UNG; 220500 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM; 235730 HIRSCHSPRUNG DISEASE SYNDROME; 250950 3-@METHYLGLUTACONICACIDURIA, TYPE I; 260350 PANCREATIC CARCINOMA; 261640 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS; 276710 TYROSINEMIA, TYPE III; 300389 RETINITIS PIGMENTOSA 3; RP3; 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1; 516020 CYTOCHROME b OF COMPLEX III; MTCYB; 516060 ATP SYNTHASE 6; MTATP6; 600174 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN; PITPN; 600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH; 600551 G PROTEIN-COUPLED RECEPTOR 4; GPR4; 600725 SONIC HEDGEHOG; SHH; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 601404 G PROTEIN-COUPLED RECEPTOR 68; GPR68; 601653 EYES ABSENT 1; EYA1; 602098 POLO-LIKE KINASE; PLK; 602647 NUCLEAR RNA EXPORT FACTOR 1; NXF1; 602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2; 602781 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2; 605074 RENAL CELL CARCINOMA, PAPILLARY; 606016 KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1; 606347 PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 1; PSTPIP1; 608022 VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS; 608049 AUTISM, SUSCEPTIBILITY TO, 4; 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5

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