OMIM Update List for December, 2004

PubMed

Nucleotide

Protein

Genome

OMIM Update List for December, 2004

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December 30, 2004
New Entries:: 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; 609130 APOPTOSIS-INDUCING, TAF9-LIKE DOMAIN 1; APITD1
Changed Entries:: 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 143100 HUNTINGTON DISEASE; HD; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 600181 LIPOCALIN 2; LCN2; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 600685 KARYOPHERIN ALPHA-2; KPNA2; 600807 ASTHMA, SUSCEPTIBILITY TO; 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; 601179 RAS-RELATED NUCLEAR PROTEIN; RAN; 601342 CHROMOSOME SEGREGATION 1-LIKE; CSE1L; 603681 OTOFERLIN; OTOF; 605290 OPTIC ATROPHY 1 GENE; OPA1; 608506 MITOFUSIN 1; MFN1; 608507 MITOFUSIN 2; MFN2; 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1

December 29, 2004
Changed Entries:: 103280 H19 GENE; H19; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 143100 HUNTINGTON DISEASE; HD; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;; 180901 RYANODINE RECEPTOR 1; RYR1; 180902 RYANODINE RECEPTOR 2; RYR2; 192132 ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM; 193400 VON WILLEBRAND DISEASE; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE; 267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS; 400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 601015 NPC2 GENE; NPC2; 602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9; 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1; 604592 T CELL IMMUNE REGULATOR 1; TCIRG1; 605204 TORSIN-A; DYT1; 605679 INTERLEUKIN 26; IL26; 607139 FANCA GENE; FANCA; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607623 NPC1 GENE; NPC1; Clinical Synopsis for 601680 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B; AMCD2B

December 28, 2004
New Entries:: 609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14; 161950 IgA NEPHROPATHY; 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; 400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 604824 KLOTHO; KL; 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 8; 607108 PAIRED BOX GENE 6; PAX6; 607379 NEUROFIBROMIN 2; NF2; 608620 HSN2 GENE; HSN2; 608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1; Clinical Synopsis for 193700 FREEMAN-SHELDON SYNDROME; FSS

December 27, 2004
Changed Entries:: 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 300392 WAS GENE; WAS; 301000 WISKOTT-ALDRICH SYNDROME; WAS; 607136 SPINOCEREBELLAR ATAXIA 17; SCA17

December 22, 2004
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES; 154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF; 170710 PERIPHERIN; PRPH; 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1; 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3; 300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16; 309600 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 602485 HYPERINSULINISM, AUTOSOMAL DOMINANT; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 605279 CARBOXYLESTERASE 3; CES3; 608996 PREMATURE OVARIAN FAILURE 3; POF3

December 21, 2004
New Entries:: 609125 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 3; MOSPD3; 609126 ATPase, CLASS II, TYPE 9A; ATP9A; 609127 ATPase, CLASS VI, TYPE 11C; ATP11C
Changed Entries:: 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2; ETS2; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 190990 TROPOMYOSIN 2; TPM2; 223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 272800 TAY-SACHS DISEASE; TSD; 400005 UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 600013 TRANSCRIPTION FACTOR YY1; YY1; 601483 PATERNALLY EXPRESSED GENE 3; PEG3; 602661 TUBULIN, BETA-3; TUBB3; 605361 SPINOCEREBELLAR ATAXIA 14; SCA14; 605868 ATPase, CLASS VI, TYPE 11A; ATP11A; 605869 ATPase, CLASS VI, TYPE 11B; ATP11B; 606440 STEREOCILIN; STRC; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 607249 CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2; 607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1; 607465 CODANIN 1; CDAN1; 609126 ATPase, CLASS II, TYPE 9A; ATP9A

December 20, 2004
New Entries:: 609123 ATPase, CLASS I, TYPE 8B, MEMBER 4; ATP8B4; 609124 ZINC FINGER PROTEIN 385; ZNF385
Changed Entries:: 118440 CHOLECYSTOKININ; CCK; 167805 PANCREATITIS-ASSOCIATED PROTEIN; PAP; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 601083 CD4/CD8 T-CELL RATIO; 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 609078 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10; Clinical Synopsis for 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; Clinical Synopsis for 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1

December 17, 2004
New Entries:: 609118 PROGRAMMED CELL DEATH 10; PDCD10; 609119 THAP DOMAIN-CONTAINING PROTEIN 11; THAP11; 609120 CATION CHANNEL, SPERM-ASSOCIATED, 3; CATSPER3; 609121 CATION CHANNEL, SPERM-ASSOCIATED, 4; CATSPER4; 609122 ANEURYSM, INTRACRANIAL BERRY, 3
Changed Entries:: 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 113705 BREAST CANCER 1 GENE; BRCA1; 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4; 143100 HUNTINGTON DISEASE; HD; 154270 MALIC ENZYME 2; ME2; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 601523 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10; 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2; 603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3; 606210 SELENOPROTEIN N, 1; SEPN1; Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE

December 16, 2004
New Entries:: 609070 HEMOGLOBIN, HIGH OXYGEN SATURATION OF; 609116 RESPIRATORY RHYTHMICITY IN SLEEP; 609117 F-BOX ONLY PROTEIN 46; FBXO46
Changed Entries:: 122000 CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 253240 MUCUS INSPISSATION OF RESPIRATORY TRACT; 275000 GRAVES DISEASE; 600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8; 602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F; 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF; 603870 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 3; CBFA2T3; 604362 LIM DOMAIN ONLY 7; LMO7; 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1; 605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5; 605647 F-BOX ONLY PROTEIN 6; FBXO6; 605648 F-BOX ONLY PROTEIN 7; FBXO7; 605649 F-BOX ONLY PROTEIN 8; FBXO8; 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3; 606013 F-BOX ONLY PROTEIN 5; FBXO5; 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1; 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2; 606604 F-BOX ONLY PROTEIN 32; FBXO32; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 607108 PAIRED BOX GENE 6; PAX6; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 607222 F-BOX ONLY PROTEIN 18; FBXO18; 607871 F-BOX ONLY PROTEIN 11; FBXO11; 608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA; 608519 F-BOX ONLY PROTEIN 16; FBXO16; 608533 F-BOX ONLY PROTEIN 38; FBXO38; 609102 F-BOX ONLY PROTEIN 31; FBXO31

December 15, 2004
New Entries:: 609089 F-BOX ONLY PROTEIN 3; FBXO3; 609090 F-BOX ONLY PROTEIN 4; FBXO4; 609091 F-BOX ONLY PROTEIN 9; FBXO9; 609092 F-BOX ONLY PROTEIN 10; FBXO10; 609093 F-BOX ONLY PROTEIN 15; FBXO15; 609094 F-BOX ONLY PROTEIN 17; FBXO17; 609095 F-BOX ONLY PROTEIN 21; FBXO21; 609096 F-BOX ONLY PROTEIN 22; FBXO22; 609097 F-BOX ONLY PROTEIN 24; FBXO24; 609098 F-BOX ONLY PROTEIN 25; FBXO25; 609099 F-BOX ONLY PROTEIN 27; FBXO27; 609100 F-BOX ONLY PROTEIN 28; FBXO28; 609101 F-BOX ONLY PROTEIN 30; FBXO30; 609102 F-BOX PROTEIN 31; FBXO31; 609103 F-BOX ONLY PROTEIN 33; FBXO33; 609104 F-BOX ONLY PROTEIN 34; FBXO34; 609105 F-BOX ONLY PROTEIN 36; FBXO36; 609106 F-BOX ONLY PROTEIN 39; FBXO39; 609107 F-BOX ONLY PROTEIN 40; FBXO40; 609108 F-BOX ONLY PROTEIN 41; FBXO41; 609109 F-BOX ONLY PROTEIN 42; FBXO42; 609110 F-BOX ONLY PROTEIN 43; FBXO43; 609111 F-BOX ONLY PROTEIN 44; FBXO44; 609112 F-BOX ONLY PROTEIN 45; FBXO45; 609113 TELOMERE LENGTH, MEAN LEUKOCTYE
Changed Entries:: 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1; 109150 MACHADO-JOSEPH DISEASE; MJD; 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 143100 HUNTINGTON DISEASE; HD; 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1; 177900 PSORIASIS SUSCEPTIBILITY; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; 254130 MIYOSHI MYOPATHY; MM; 600225 GTP CYCLOHYDROLASE I; GCH1; 600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601150 DEAD/H BOX 11; DDX11; 601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7; 602457 FAS-ASSOCIATED VIA DEATH DOMAIN; FADD; 602593 CORNEODESMOSIN; CDSN; 604365 PROMININ 1; PROM1; 605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1; 605310 ALPHA-HELIX COILED-COIL ROD HOMOLOG; 606181 DEAD/H BOX 24; DDX24; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606936 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 4;; 607375 DOT1-LIKE; DOT1L; 609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2; Clinical Synopsis for 183086 SPINOCEREBELLAR ATAXIA 6; SCA6

December 14, 2004
New Entries:: 400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED; 609076 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 6; FBXL6; 609077 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 8; FBXL8; 609078 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10; 609079 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 12; FBXL12; 609080 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 13; FBXL13; 609081 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 14; FBXL14; 609082 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 16; FBXL16; 609083 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 17; FBXL17; 609084 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 18; FBXL18; 609085 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 19; FBXL19; 609086 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 20; FBXL20; 609087 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 21; FBXL21; 609088 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 22; FBXL22
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 137215 GASTRIC CANCER; 142720 HISTONE 2, H2AA; HIST2H2AA; 153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1; 176807 PROSTATE CANCER; 191170 TUMOR PROTEIN p53; TP53; 270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS; 305700 SERTOLI CELL-ONLY SYNDROME; 308370 INFERTILE MALE SYNDROME; 313700 ANDROGEN RECEPTOR; AR; 400003 DELETED IN AZOOSPERMIA; DAZ; 400005 UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y; 400006 RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1; 400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 424500 GONADOBLASTOMA; GBY; 426000 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D; 601003 BRODY MYOPATHY; 601831 HISTONE 2, H2BE; HIST2H2BE; 601897 ZINC FINGER PROTEIN 148; ZNF148; 602661 TUBULIN, BETA-3; TUBB3; 602662 TUBULIN, BETA-4; TUBB4; 602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9; 605652 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 2; FBXL2; 605653 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3; FBXL3; 605654 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4; 605655 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 5; FBXL5; 605656 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 7; FBXL7; 605657 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 11; FBXL11; 606594 SET DOMAIN-CONTAINING PROTEIN 7; 607112 F-BOX ONLY PROTEIN 2; FBXO2; 607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1; 608039 NYD-SP16; 608297 MAKORIN 1 REGULATORY FACTOR; 608671 DAZ-INTERACTING PROTEIN 1; DZIP1

December 13, 2004
Changed Entries:: 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 601297 SRY-BOX 15; SOX15; 607444 SBDS GENE; SBDS; 607918 SELENOPROTEIN S; 608180 SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL

December 10, 2004
New Entries:: 609058 METHYLMALONYL-CoA MUTASE; MUT; 609071 F-BOX AND WD40 DOMAIN PROTEIN 2; FBXW2; 609072 F-BOX AND WD40 DOMAIN PROTEIN 5; FBXW5; 609073 F-BOX AND WD40 DOMAIN PROTEIN 8; FBXW8; 609074 F-BOX AND WD40 DOMAIN PROTEIN 9; FBXW9; 609075 F-BOX AND WD40 DOMAIN PROTEIN 12; FBXW12; Clinical Synopsis for 609055 CEROID LIPOFUSCINOSIS, NEURONAL 9; CLN9
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 164960 ONCOGENE PIM 1; PIM1; 166760 OTITIS MEDIA, SUSCEPTIBILITY TO; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 181500 SCHIZOPHRENIA; SCZD; 191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8; 251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY; 251100 METHYLMALONIC ACIDURIA, cblA TYPE; 251110 METHYLMALONIC ACIDURIA, cblB TYPE; 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; 305371 GATA-BINDING PROTEIN 1; GATA1; 600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8; 601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2; 603140 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, ALPHA; PIP5K2A; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604454 WELANDER DISTAL MYOPATHY; WDM; 604596 F-BOX AND WD40 DOMAIN PROTEIN 10; FBXW10; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605651 F-BOX AND WD40 DOMAIN PROTEIN 11; FBXW11; 606169 METHYLMALONIC ACIDURIA, cblH TYPE; 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607481 MMAA GENE; MMAA; 607568 MMAB GENE; MMAB; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608071 SHFM3 GENE; SHFM3; Clinical Synopsis for 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; Clinical Synopsis for 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; Clinical Synopsis for 251100 METHYLMALONIC ACIDURIA, cblA TYPE; Clinical Synopsis for 251110 METHYLMALONIC ACIDURIA, cblB TYPE; Clinical Synopsis for 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; Clinical Synopsis for 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; Clinical Synopsis for 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE

December 9, 2004
New Entries:: 609069 DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Changed Entries:: 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 116806 CATENIN, BETA-1; CTNNB1; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 169800 PEPTIDASE A; PEPA; 219700 CYSTIC FIBROSIS; CF; 243500 ISOVALERIC ACIDEMIA; IVA; 260370 PANCREATIC AGENESIS, CONGENITAL; 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS; 600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8; 600807 ASTHMA, SUSCEPTIBILITY TO; 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8; 601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2; 601591 PROTEIN KINASE, cGMP-DEPENDENT, TYPE II; PRKG2; 602623 FK506-BINDING PROTEIN 5; FKBP5; 602863 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 14; WNT14; 602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9; 603066 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 3; PLOD3; 603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4; 604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR; 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5; 605620 INTERLEUKIN 20 RECEPTOR, ALPHA; IL20RA; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; 606267 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 16; WNT16; 607036 ISOVALERYL-CoA DEHYDROGENASE; IVD; 607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; PTF1A; 607277 ASTHMA, SUSCEPTIBILITY TO, 1; 608160 SRY-BOX 9; SOX9; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608636 AUTISM, SUSCEPTIBILITY TO, 1

December 8, 2004
New Entries:: 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY; 609067 SCLERAXIS; 609068 CERBERUS, XENOPUS, HOMOLOG OF, 2
Changed Entries:: 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION; 150330 LAMIN A/C; LMNA; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 186360 ANNEXIN A7; ANXA7; 208150 PENA-SHOKEIR SYNDROME, TYPE I; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 254200 MYASTHENIA GRAVIS; MG; 300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS; 308840 L1 CELL ADHESION MOLECULE; L1CAM; 600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD; 600630 UV-SENSITIVE SYNDROME; UVS; 600725 SONIC HEDGEHOG; SHH; 600953 INTERLEUKIN 18; IL18; 603072 AURORA KINASE A; AURKA; 603777 CERBERUS, XENOPUS, HOMOLOG OF, 1; CER1; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; 604694 A-KINASE ANCHOR PROTEIN 10; AKAP10; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC; 606544 MITOCHONDRIAL ELONGATION FACTOR G2; GFM2; 606639 MITOCHONDRIAL ELONGATION FACTOR G1; GFM1; 607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA; 608584 ASTHMA, SUSCEPTIBILITY TO, 2; 609066 AJUBA, MOUSE, HOMOLOG OF; JUB

December 7, 2004
New Entries:: 609055 CEROID LIPOFUSCINOSIS, NEURONAL 9; CLN9; 609062 POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; POU6F2; 609064 CARNOSINE DIPEPTIDASE 1; CNDP1; 609066 AJUBA, MOUSE, HOMOLOG OF; JUB
Changed Entries:: 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; 142445 NEUREGULIN 1; NRG1; 150330 LAMIN A/C; LMNA; 169800 CARNOSINE DIPEPTIDASE 2; CNDP2; 214300 KLIPPEL-FEIL MALFORMATION; KFM; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B; 601583 WILMS TUMOR 5; WT5; 602061 EPIREGULIN; EREG; 602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7; 603072 AURORA KINASE A; AURKA; 603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; 604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1; 606515 RNA, 7SK SMALL NUCLEAR; RN7SK; 607102 WILMS TUMOR 1 GENE; WT1; 607262 EPSIN 1; EPN1; 608051 MACULAR DYSTROPHY, RETINAL, 2, BULL'S EYE; 609023 MYOFIBRILLOGENESIS REGULATOR 1; 609062 POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; POU6F2

December 6, 2004
New Entries:: 609061 ENABLED, DROSOPHILA, HOMOLOG OF; ENAH; 609063 THIOREDOXIN 2; TXN2
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 117700 CERULOPLASMIN; CP; 136533 FORKHEAD BOX O1A; FOXO1A; 179620 RAPH BLOOD GROUP SYSTEM; 180435 RIBONUCLEASE L; RNASEL; 204500 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2; 300167 HEPHAESTIN; HEPH; 300392 WAS GENE; WAS; 600579 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO; 601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2; 602623 FK506-BINDING PROTEIN 5; FKBP5; 602709 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 1; APBB1; 603050 SPECTRIN SH3 DOMAIN-BINDING PROTEIN 1; SSH3BP1; 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1; 604290 ACERULOPLASMINEMIA; 604798 HOMER, NEURONAL IMMEDIATE EARLY GENE, 1B; 604799 HOMER 2; 604800 HOMER 3; 605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL; 605885 SEMAPHORIN 6A; SEMA6A; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 609035 RAS ASSOCIATION AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN; 609036 APBB1-INTERACTING PR0TEIN; APBB1IP; 609061 ENABLED, DROSOPHILA, HOMOLOG OF; ENAH

December 3, 2004
Changed Entries:: 138079 GLUCOKINASE; GCK; 151750 LIPASE, HORMONE-SENSITIVE; LIPE; 166760 OTITIS MEDIA, SUSCEPTIBILITY TO; 176915 PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA; 257910 OCULOPALATOCEREBRAL SYNDROME; 600756 PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT B-PRIME; PPP2R4; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601400 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; 601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3; 602243 CD151 ANTIGEN; CD151; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 604365 PROMININ 1; PROM1; 604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; 606919 LAG1, S. CEREVISIAE, HOMOLOG OF, 1; LASS1; 607844 LEM DOMAIN-CONTAINING 3; LEMD3

December 2, 2004
New Entries:: 609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2
Changed Entries:: 109770 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1; 126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT; 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL; 155950 MELORHEOSTOSIS; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 166700 BUSCHKE-OLLENDORFF SYNDROME; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 225500 ELLIS-VAN CREVELD SYNDROME; EVC; 228355 FETAL IODINE DEFICIENCY DISORDER; FIDD; 236795 3-@HYDROXYISOBUTYRICACIDURIA; 252650 MUCOLIPIDOSIS IV; 263510 SHORT RIB-POLYDACTYLY SYNDROME, TYPE III; 300102 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4; 300205 EMOPAMIL-BINDING PROTEIN; EBP; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2; 601007 LEPTIN RECEPTOR; LEPR; 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8; 601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; 604214 CCM1 GENE; CCM1; 604831 EVC GENE; EVC; 604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605248 MUCOLIPIN 1; MCOLN1; 606440 STEREOCILIN; STRC; 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP; 606649 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3; 607249 CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2; 607465 CODANIN 1; CDAN1; 607844 LEM DOMAIN-CONTAINING 3; LEMD3; 609031 SERINE PROTEASE INHIBITOR-LIKE PROTEIN WITH KUNITZ AND WAP DOMAINS

December 1, 2004
New Entries:: 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL
Changed Entries:: 102720 DIPEPTIDYL PEPTIDASE IV; DPP4; 142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 165090 RELATED RAS VIRAL ONCOGENE HOMOLOG; RRAS; 176977 PROTEIN KINASE C, DELTA; PRKCD; 590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 601053 PLEXIN B1; PLXNB1; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601866 SEMAPHORIN 4D; SEMA4D; 602627 CELL DIVISION CYCLE 18, S. POMBE, HOMOLOG-LIKE; CDC18L; 603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, B; GCMB; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 604479 SIRTUIN 1; SIRT1; 604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605248 MUCOLIPIN 1; MCOLN1; 607381 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 50, YEAST, HOMOLOG OF;; 608506 MITOFUSIN 1; MFN1; 608700 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1; 609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR

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OMIM Update List for December, 2004

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