OMIM Update List for January, 2004

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Nucleotide

Protein

Genome

OMIM Update List for January, 2004

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January 30, 2004
New Entries:: 607159 RETINOIC ACID-INDUCED GENE 17; RAI17; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY, 1; 608435 MUSCLE RAS VIRAL ONCOGENE HOMOLOG; MRAS; 608436 SULFOTRANSFERASE FAMILY 1B, MEMBER 1; SULT1B1; 608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4; Clinical Synopsis for 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS
Changed Entries:: 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 123900 VILLIN 2; VIL2; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 171150 SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING, MEMBER 1; SULT1A1; 182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4; 191160 TUMOR NECROSIS FACTOR; TNF; 227400 FACTOR V DEFICIENCY; 259500 OSTEOGENIC SARCOMA; 268210 RHABDOMYOSARCOMA 1; RMS1; 268220 RHABDOMYOSARCOMA 2; RMS2; 300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 306400 GRANULOMATOUS DISEASE, CHRONIC; CGD; 306700 HEMOPHILIA A; 550500 MYOGLOBINURIA, RECURRENT; 590000 TRANSFER RNA, MITOCHONDRIAL, ALANINE; MTTA; 600043 SULFOTRANSFERASE, ESTROGEN-PREFERRING; STE; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600562 CADHERIN 12; CDH12; 601205 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; SIX1; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 606397 USH3A GENE; USH3A; 606838 APOPTOSIS-ASSOCIATED SPECK-LIKE PROTEIN CONTAINING A CARD; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608380 RETINITIS PIGMENTOSA 26; RP26; 608381 CERAMIDE KINASE-LIKE

January 29, 2004
New Entries:: 608396 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), ISOFORM A9; SLC9A9; 608431 RAS-GTPase-ACTIVATING PROTEIN SH3 DOMAIN-BINDING PROTEIN; 608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM; 608433 ZINC FINGER PROTEIN 238; ZNF238; 608434 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 1; GIT1
Changed Entries:: 101600 PFEIFFER SYNDROME; 107680 APOLIPOPROTEIN A-I; APOA1; 112500 BRACHYDACTYLY, TYPE A1; BDA1; 114100 CALCIFICATION OF BASAL GANGLIA WITH OR WITHOUT HYPOCALCEMIA; 122470 CORNELIA DE LANGE SYNDROME 1; CDL1; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 146110 HYPOGONADOTROPIC HYPOGONADISM; 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 153456 LYSYL OXIDASE-LIKE 1; LOXL1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 181500 SCHIZOPHRENIA; SCZD; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 191040 TROPONIN C, SLOW; TNNC1; 219000 FRASER SYNDROME; 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME; 600024 LAMIN B RECEPTOR; LBR; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600726 INDIAN HEDGEHOG; IHH; 601358 NICOLAIDES-BARAITSER SYNDROME; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 601621 T-BOX 3; TBX3; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602544 PARKIN; PARK2; 603123 DEDICATOR OF CYTOKINESIS 3; DOCK3; 604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1; 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1; 607572 LEPROSY, SUSCEPTIBILITY TO, 2; 608427 PARKIN COREGULATED GENE; PACRG; 608429 DERMATAN-4-SULFOTRANFERASE 1; Clinical Synopsis for 125490 DENTINOGENESIS IMPERFECTA 1; DGI1; Clinical Synopsis for 271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL; Clinical Synopsis for 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION; Clinical Synopsis for 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II

January 28, 2004
New Entries:: 608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA; 608390 MYOTONIA, POTASSIUM-AGGRAVATED; 608429 DERMATAN-4-SULFOTRANFERASE 1; 608430 TRPC4-ASSOCIATED PROTEIN; TRPC4AP
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 109150 MACHADO-JOSEPH DISEASE; MJD; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 148000 KAPOSI SARCOMA; 154275 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 2; MHS2; 160500 MYOPATHY, DISTAL 1; MPD1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 168350 MOVED TO 168300; 170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 205900 DIAMOND-BLACKFAN ANEMIA; DBA; 246900 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD; 248600 MAPLE SYRUP URINE DISEASE; 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT; 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB; 600726 INDIAN HEDGEHOG; IHH; 602544 PARKIN; PARK2; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME; 606376 CARBOHYDRATE SULFOTRANSFERASE 10; CHST10; 607504 HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY; HSA; 607572 LEPROSY, SUSCEPTIBILITY TO, 2; 608386 TUBEROINFUNDIBULAR PEPTIDE OF 39 AMINO ACIDS; 608427 PARKIN COREGULATED GENE; PACRG

January 27, 2004
New Entries:: 608426 MAKORIN 2; MKRN2; 608427 PARKIN COREGULATED GENE; PACRG; 608428 CYTOCHROME P450, SUBFAMILY XXVIC, POLYPEPTIDE 1; CYP26C1
Changed Entries:: 119915 CLUSTER HEADACHE, FAMILIAL; 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; 251450 DESBUQUOIS SYNDROME; DBQD; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 300031 FRAGILE SITE F, X-LINKED; FRAXF; 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP; 604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC; 605207 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 2; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 606439 SPG3A GENE; SPG3A; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 607067 SAITOHIN

January 23, 2004
New Entries:: 608419 METHYLMALONYL-CoA EPIMERASE; MCEE; 608420 PANNEXIN 1; PANX1; 608421 PANNEXIN 2; PANX2; 608422 PANNEXIN 3; PANX3; 608424 MUCIN 17; MUC17; 608425 FRUCTOSAMINE 3-KINASE; Clinical Synopsis for 309470 MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP; 141750 HEMOGLOBIN H-RELATED MENTAL RETARDATION; 143100 HUNTINGTON DISEASE; HD; 150370 LAMININ RECEPTOR 1; LAMR1; 177061 MYRISTOYLATED ALANINE-RICH PROTEIN KINASE C SUBSTRATE; MARCKS; 203450 ALEXANDER DISEASE; 300032 ATR-X GENE; ATRX; 300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5; 300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX; 309470 MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3; 600044 THROMBOPOIETIN; THPO; 600296 NATRIURETIC PEPTIDE PRECURSOR C; NPPC; 601177 ADP-RIBOSYLATION FACTOR 4; ARF4; 601253 CAVEOLIN 3; CAV3; 602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F; 602724 PEANUT-LIKE 1; PNUTL1; 603263 CARBONIC ANHYDRASE XII; CA12; 603363 CGG-BINDING PROTEIN, 20-KD; 603786 STARGARDT DISEASE 4; STGD4; 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1; 604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5; 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES; 605204 TORSION DYSTONIA 1 GENE; DYT1; 605244 CARNEY COMPLEX, TYPE II; CNC2; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 607379 NEUROFIBROMIN 2; NF2; 607635 CARBOXYPEPTIDASE A4; CPA4; 608051 MACULAR DYSTROPHY, RETINAL, 2, BULL'S EYE; Clinical Synopsis for 108145 ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES; Clinical Synopsis for 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; Clinical Synopsis for 210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III; Clinical Synopsis for 224400 DYSSEGMENTAL DWARFISM; Clinical Synopsis for 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE

January 22, 2004
New Entries:: 608400 USH2A GENE; USH2A; 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY; 608413 PROGESTIN-INDUCED PROTEIN; 608414 PHOSPHOLIPASE C, EPSILON-1; PLCE1; 608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS; 608416 MATRIX METALLOPROTEINASE 21; MMP21; 608417 MATRIX METALLOPROTEINASE 28; MMP28; 608418 SEPTIN 8; Mini-MIM for 114290 CAMPOMELIC DYSPLASIA; Mini-MIM for 192430 VELOCARDIOFACIAL SYNDROME; Mini-MIM for 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; Mini-MIM for 193400 VON WILLEBRAND DISEASE; Mini-MIM for 194070 WILMS TUMOR 1; WT1; Mini-MIM for 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; Mini-MIM for 209920 BARE LYMPHOCYTE SYNDROME, TYPE II; Mini-MIM for 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; Mini-MIM for 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP; Mini-MIM for 213700 CEREBROTENDINOUS XANTHOMATOSIS; Mini-MIM for 214100 ZELLWEGER SYNDROME; ZS; Mini-MIM for 214800 CHOANAL ATRESIA, POSTERIOR; PCA; Mini-MIM for 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1; Mini-MIM for 215700 CITRULLINEMIA, CLASSIC; Mini-MIM for 216400 COCKAYNE SYNDROME, TYPE I; CKN1; Mini-MIM for 219800 CYSTINOSIS, NEPHROPATHIC; CTNS; Mini-MIM for 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; Mini-MIM for 223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; Mini-MIM for 241500 HYPOPHOSPHATASIA, INFANTILE; Mini-MIM for 262500 PITUITARY DWARFISM II; Mini-MIM for 276903 MYOSIN VIIA; MYO7A
Changed Entries:: 103280 H19 GENE; H19; 107776 AQUAPORIN 1; AQP1; 113650 BRANCHIOOTORENAL DYSPLASIA; 118825 CHOROIDEREMIA-LIKE; CHML; 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP; 151623 LI-FRAUMENI SYNDROME; LFS; 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5; 152392 ARACHIDONATE 15-LIPOXYGENASE; ALOX15; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 165190 FIBROBLAST GROWTH FACTOR 5; FGF5; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 171490 PHOSDUCIN; PDC; 173510 CD36 ANTIGEN; CD36; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 194631 ZINC FINGER PROTEIN 124; ZNF124; 200440 MOVED TO 231550; 241750 MOVED TO 146450; 248310 MALARIA, INTENSITY OF INFECTION IN; 251200 MICROCEPHALY, PRIMARY; MCPH; 275350 TRANSCOBALAMIN II DEFICIENCY; 276901 USHER SYNDROME, TYPE IIA; USH2A; 276905 USHER SYNDROME, TYPE IIB; USH2B; 300067 LISSENCEPHALY, X-LINKED; 300223 MELANOMA ANTIGEN, FAMILY C, 1; MAGEC1; 300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS; 600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600481 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2; 600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A; 600597 PHOSPHOLIPASE C-LIKE 1; PLCL1; 600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3; 601990 TUMOR PROTEIN p73; TP73; 602544 PARKIN; PARK2; 602707 PROTEASOME 26S SUBUNIT, ATPase, 4; PSMC4; 602774 RAD51, S. CEREVISIAE, HOMOLOG OF, C; RAD51C; 602914 AQUAPORIN 9; AQP9; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1; 604067 REGULATOR OF G PROTEIN SIGNALING 9; RGS9; 604167 CCCTC-BINDING FACTOR; CTCF; 604492 VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1; 604683 KINESIN FAMILY MEMBER 3A; KIF3A; 604775 ANKYRIN-LIKE PROTEIN WITH TRANSMEMBRANE DOMAINS 1; ANKTM1; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1; 605842 TRANSDUCIN-BETA-LIKE 2; TBL2; 606045 WD REPEAT-CONTAINING PROTEIN 10; WDR10; 606472 SS18-LIKE GENE 1; SS18L1; 607543 SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM; 607578 BREATH-HOLDING SPELLS; 607814 REGULATOR OF G PROTEIN SIGNALING 9-BINDING PROTEIN; 607850 HAND OSTEOARTHRITIS; HOA; 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS; 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY; Clinical Synopsis for 607578 BREATH-HOLDING SPELLS; Clinical Synopsis for 607850 HAND OSTEOARTHRITIS; HOA

January 21, 2004
New Entries:: Clinical Synopsis for 300465 SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME-LIKE; Clinical Synopsis for 607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; Clinical Synopsis for 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 110300 ABO BLOOD GROUP; ABO; 139260 GUANINE DEAMINASE; GDA; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 148000 KAPOSI SARCOMA; 150330 LAMIN A/C; LMNA; 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; 246800 MOVED TO 257220; 257050 MOVED TO 257220; 257250 MOVED TO 257220; 601288 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 601965 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3; 601974 ENDOTHELIAL DIFFERENTIATION GENE 1; EDG1; 602282 ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2; 602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,; 603202 LACTASE; LCT; 603751 ENDOTHELIAL DIFFERENTIATION GENE 6; EDG6; 605111 ENDOTHELIAL DIFFERENTIATION GENE 5; EDG5; 605146 ENDOTHELIAL DIFFERENTIATION GENE 8; EDG8; 606255 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6; 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11; 608397 CUB AND SUSHI MULTIPLE DOMAINS 1; CSMD1; Clinical Synopsis for 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; Clinical Synopsis for 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; Clinical Synopsis for 162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB; Clinical Synopsis for 162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE; Clinical Synopsis for 203750 ALPHA-METHYLACETOACETICACIDURIA; Clinical Synopsis for 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6; Clinical Synopsis for 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; Clinical Synopsis for 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A

January 20, 2004
New Entries:: 608408 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 3; DPPA3; 608409 NORMAL MUCOSA OF ESOPHAGUS-SPECIFIC GENE 1; 608410 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4; 608411 EXPORTIN 6; XPO6; 608412 VASCULAR WALL-LINKED PROTEIN; Clinical Synopsis for 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION; Clinical Synopsis for 608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 107480 TOWNES-BROCKS SYNDROME; TBS; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 124090 CYTOCHROME c OXIDASE, SUBUNIT VIc; COX6C; 133700 EXOSTOSES, MULTIPLE, TYPE I; 133701 EXOSTOSES, MULTIPLE, TYPE II; 138120 HEAT-SHOCK 70-KD PROTEIN 5; HSPA5; 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP; 147920 KABUKI SYNDROME; 150699 LEIOMYOMA, UTERINE; 152200 APOLIPOPROTEIN(a); LPA; 157130 MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 157900 MOEBIUS SYNDROME 1; MBS1; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 167500 PALATOPHARYNGEAL INCOMPETENCE; 250250 CARTILAGE-HAIR HYPOPLASIA; CHH; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 601665 OBESITY; 601746 HYPOXIA UP-REGULATED 1; HYOU1; 601769 VITAMIN D RECEPTOR; VDR; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; 608210 EXOSTOSIN 2; EXT2; 608249 CYCLIN B1 INTERACTING PROTEIN 1; CCNB1IP1; Clinical Synopsis for 226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS; Clinical Synopsis for 271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL; Clinical Synopsis for 601769 VITAMIN D RECEPTOR; VDR; Clinical Synopsis for 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II

January 16, 2004
New Entries:: 608398 CUB AND SUSHI MULTIPLE DOMAINS 2; CSMD2; 608399 CUB AND SUSHI MULTIPLE DOMAINS 3; CSMD3; 608401 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 4E; MS4A4E; 608402 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 6E; MS4A6E; 608403 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 10; MS4A10; 608405 1-@AMINOCYCLOPROPANE-1-CARBOXYLATE SYNTHASE; 608407 DIHYDROPYRIMIDINASE-LIKE 4; DPYSL4
Changed Entries:: 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 164160 LEPTIN; LEP; 180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 302905 CHARGE-LIKE SYNDROME, X-LINKED; 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 602446 GLYPICAN 5; GPC5; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 602533 ONCOGENE DJ1; 603202 LACTASE; LCT; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606324 PARKINSON DISEASE, TYPE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7; 608351 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 11; IGSF11; Clinical Synopsis for 271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT; Clinical Synopsis for 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION

January 15, 2004
New Entries:: 608397 CUB AND SUSHI MULTIPLE DOMAINS 1; CSMD1; Clinical Synopsis for 602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,
Changed Entries:: 105800 ANEURYSM, INTRACRANIAL BERRY; 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS; 154870 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP; 156240 MESOTHELIOMA, MALIGNANT; 163950 NOONAN SYNDROME 1; NS1; 165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;; 173880 POLYMERIC IMMUNOGLOBULIN RECEPTOR; PIGR; 217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE; 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; 271980 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 309400 MENKES DISEASE; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 603681 OTOFERLIN; OTOF; 603937 RETINITIS PIGMENTOSA 1 GENE; RP1; 604491 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB; 605422 ZINC FINGER PROTEIN 350; ZNF350; 606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1; 606232 CHROMOSOME 22q13.3 DELETION SYNDROME; 606841 DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN; DEDD; 607566 EPM2A GENE; EPM2A; 607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1; 607929 CHROMOSOME 7 OPEN READING FRAME 22; C7ORF22; 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1; 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2; 608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3; Clinical Synopsis for 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD; Clinical Synopsis for 271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT; Clinical Synopsis for 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; Clinical Synopsis for 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION

January 14, 2004
Changed Entries:: 102490 ACRORENOOCULAR SYNDROME; 104311 PRESENILIN 1; PSEN1; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP; 142763 H2A HISTONE FAMILY, MEMBER Z; H2AFZ; 142965 HOMEO BOX B4; HOXB4; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 174763 POLYMERASE, DNA, GAMMA; POLG; 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; 203450 ALEXANDER DISEASE; 236200 HOMOCYSTINURIA; 252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA; 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 253200 MUCOPOLYSACCHARIDOSIS TYPE VI; 256000 LEIGH SYNDROME; LS; 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 603398 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 1; WISP1; 606245 JJAZ1 GENE; 606579 SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; 607014 HURLER SYNDROME; 607273 FOLLICULIN; 607323 DUANE-RADIAL RAY SYNDROME; DRRS; 607343 SAL-LIKE 4; SALL4; 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; 608383 DIHYDROPYRIMIDINASE-LIKE 5; DPYSL5; 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2

January 13, 2004
New Entries:: 608372 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49; DFNA49; 608389 BRANCHIOOTIC SYNDROME 3; 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2; 608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3; 608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; 608394 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 43; DFNA43; 608395 KARAK SYNDROME; Clinical Synopsis for 602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4; Clinical Synopsis for 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; Clinical Synopsis for 607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES; Clinical Synopsis for 607641 LOWER MOTOR NEURON DISEASE, PROGRESSIVE, WITHOUT SENSORY SYMPTOMS; Clinical Synopsis for 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1; Clinical Synopsis for 608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; Clinical Synopsis for 608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 120502 BRANCHIOOTIC SYNDROME 2; 123610 CRYSTALLIN, BETA-A1; CRYBA1; 147920 KABUKI SYNDROME; 150330 LAMIN A/C; LMNA; 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS; 187260 TELANGIECTASIA, HEREDITARY BENIGN; 188700 TIBIA VARA; 236670 WALKER-WARBURG SYNDROME; 248370 MANDIBULOACRAL DYSPLASIA; MAD; 256710 ELEJALDE SYNDROME; 263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300058 PEM HOMEO BOX GENE, HUMAN HOMOLOG OF; 300166 OCULOFACIOCARDIODENTAL SYNDROME; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 530000 KEARNS-SAYRE SYNDROME; KSS; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 601543 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 8; DFNA8; 602588 BRANCHIOOTIC SYNDROME 1; BOS1; 603851 PAIRED-LIKE HOMEO BOX 2B; PHOX2B; 604271 SHORT STATURE; SS; 604933 MutY, E. COLI, HOMOLOG OF; MUTYH; 606579 SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; 607304 CATARACT, NUCLEAR PROGRESSIVE; 607440 FCMD GENE; FCMD; 608394 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 43; DFNA43; Clinical Synopsis for 187260 TELANGIECTASIA, HEREDITARY BENIGN; Clinical Synopsis for 193670 WHIM SYNDROME; Clinical Synopsis for 304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;; Clinical Synopsis for 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V; Clinical Synopsis for 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G

January 12, 2004
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4; 112260 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP; 120502 BRANCHIOOTIC SYNDROME 2; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 164874 FORKHEAD BOX G1B; FOXG1B; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 216550 COHEN SYNDROME; COH1; 300265 ZINC FINGER PROTEIN OF CEREBELLUM, 3; ZIC3; 300306 OBESITY, SUSCEPTIBILITY TO, X-LINKED; 300444 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 14;; 600779 FORKHEAD BOX G1A; FOXG1A; 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT; 601288 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 601495 AGAMMAGLOBULINEMIA, NON-BRUTON TYPE; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 605524 FORKHEAD BOX G1C; FOXG1C; 607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1; 607845 EXPORTIN 5; XPO5; 608360 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8; LRRC8

January 9, 2004
New Entries:: 608385 C-TERMINAL TENSIN-LIKE PROTEIN; 608386 TUBEROINFUNDIBULAR PEPTIDE OF 39 AMINO ACIDS; 608387 ZINC FINGER PROTEIN 213; ZNF213; 608388 SIGNALING INTERMEDIATE IN TOLL PATHWAY, EVOLUTIONARILY CONSERVED
Changed Entries:: 120820 COMPLEMENT COMPONENT 4B; C4B; 126452 DOPAMINE RECEPTOR D4; DRD4; 131340 PRODYNORPHIN; PDYN; 136533 FORKHEAD BOX O1A; FOXO1A; 153370 INTEGRIN, ALPHA-L; ITGAL; 191160 TUMOR NECROSIS FACTOR; TNF; 232600 GLYCOGEN STORAGE DISEASE V; 265120 PULMONARY ALVEOLAR PROTEINOSIS; 600036 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 1; OTX1; 600634 PROLACTINOMA, FAMILIAL; 600781 PEPTIDE YY; PYY; 601281 SEMAPHORIN 3B; SEMA3B; 601659 ES1, ZEBRAFISH, HOMOLOG OF; ES1; 601845 GOOSECOID-LIKE; GSCL; 602070 NEUROPILIN 2; NRP2; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 602987 PHOSPHODIESTERASE 1C; PDE1C; 603031 TOLL-LIKE RECEPTOR 5; TLR5; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1; 605371 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARFGEF2; 606597 PAIRED BOX GENE 3; PAX3; 608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE; 608208 KIAA1399; 608215 LIM HOMEO BOX GENE 6; LHX6

January 8, 2004
New Entries:: 608374 HEMOJUVELIN; 608382 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 3; DNAJA3; 608383 DIHYDROPYRIMIDINASE-LIKE 5; DPYSL5; 608384 MELANOMA-DERIVED LEUCINE ZIPPER-CONTAINING EXTRANUCLEAR FACTOR; MLZE
Changed Entries:: 107320 ANTIPHOSPHOLIPID SYNDROME; 113995 COMPLEMENT COMPONENT 5 RECEPTOR 1; C5R1; 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE; 155720 MELANOMA, UVEAL; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 235200 HEMOCHROMATOSIS; HFE; 243200 INTRACRANIAL HYPERTENSION, IDIOPATHIC; 601007 LEPTIN RECEPTOR; LEPR; 601205 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; SIX1; 601653 EYES ABSENT 1; EYA1; 602181 EBNA2 COACTIVATOR p100; 602390 HEMOCHROMATOSIS, JUVENILE; JH; 603803 DACHSHUND, DROSOPHILA, HOMOLOG OF; DACH; 604860 MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1; MALT1; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

January 7, 2004
New Entries:: 608377 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; ARFGAP1; 608378 SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 1; SDCCAG1; 608379 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 2; CCRL2; 608380 RETINITIS PIGMENTOSA 26; RP26; 608381 CERAMIDE KINASE-LIKE; Clinical Synopsis for 608346 MUSCULAR DYSTROPHY, CONGENITAL, ASSOCIATED WITH CALF HYPERTROPHY,; Clinical Synopsis for 608358 MYOPATHY, MYOSIN STORAGE
Changed Entries:: 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 168600 PARKINSON DISEASE; PD; 176930 COAGULATION FACTOR II; F2; 259200 OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPE; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 300377 DYSTROPHIN; DMD; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 602164 5-@HYDROXYTRYPTAMINE RECEPTOR 4; HTR4; 605672 CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM; 606658 SPINOCEREBELLAR ATAXIA 15; SCA15; 606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA; 606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; 607060 PARKINSON DISEASE 8; PARK8; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; Clinical Synopsis for 256000 LEIGH SYNDROME; LS; Clinical Synopsis for 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING; Clinical Synopsis for 607136 SPINOCEREBELLAR ATAXIA 17; SCA17

January 6, 2004
New Entries:: 608375 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 6; DNAJC6; 608376 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY B, MEMBER 12; DNAJB12
Changed Entries:: 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 152425 FATTY ACID CoA LIGASE, LONG-CHAIN 2; FACL2; 152426 MOVED TO 152425; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176640 PRION PROTEIN; PRNP; 181500 SCHIZOPHRENIA; SCZD; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 300157 FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4; 600691 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 1; SLC27A1; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 602371 FATTY ACID CoA LIGASE, LONG-CHAIN 3; FACL3; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603734 INTERFERON REGULATORY FACTOR 3; IRF3; 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

January 5, 2004
New Entries:: 608373 SYNAPTOGYRIN 4; SYNGR4
Changed Entries:: 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3; 164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI; 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1; 300254 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1; 300255 O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT; 300437 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG 2; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600453 ZINC FINGER PROTEIN 147; ZNF147; 601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR; 601290 STRATIFIN; SFN; 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1; 601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3; 601995 TENASCIN-R; TNR; 603072 AURORA KINASE A; AURKA; 603085 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 1; SLC31A1; 603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1; 603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6; 606503 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 2; 606522 GROWTH DIFFERENTIATION FACTOR 3; GDF3; 607108 PAIRED BOX GENE 6; PAX6; 607205 PUMILIO, DROSOPHILA, HOMOLOG OF, 2; PUM2; 607520 ZYGOTE ARREST 1; ZAR1; 607913 GLUTATHIONE PEROXIDASE 6; GPX6; 607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1; Clinical Synopsis for 185700 SYMPHALANGISM, DISTAL; Clinical Synopsis for 261540 PETERS-PLUS SYNDROME

January 2, 2004
New Entries:: Clinical Synopsis for 608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3
Changed Entries:: 109350 GASTROESOPHAGEAL REFLUX; 134370 H FACTOR 1; HF1; 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3; 607393 HYPERPARATHYROIDISM 2 GENE; HRPT2; Clinical Synopsis for 128230 DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION; Clinical Synopsis for 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES; Clinical Synopsis for 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS

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OMIM Update List for January, 2004

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