OMIM Update List for November, 2004

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Nucleotide

Protein

Genome

OMIM Update List for November, 2004

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November 30, 2004
New Entries:: 609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; 609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J; 609056 AMISH INFANTILE EPILEPSY SYNDROME; 609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
Changed Entries:: 100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2; 100800 ACHONDROPLASIA; ACH; 108300 STICKLER SYNDROME, TYPE I; STL1; 114835 CARBOXYLESTERASE 1; CES1; 120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2; 133280 ESTERASE D; ESD; 143100 HUNTINGTON DISEASE; HD; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;; 176920 PROTEUS SYNDROME; 179620 RAPH BLOOD GROUP SYSTEM; 182141 SEMENOGELIN II; SEMG2; 186357 SYNDECAN 3; SDC3; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 309400 MENKES DISEASE; 600909 LANOSTEROL SYNTHASE; LSS; 601132 KINASE SUPPRESSOR OF RAS; KSR; 601311 STEROL O-ACYLTRANSFERASE 2; SOAT2; 602243 CD151 ANTIGEN; CD151; 602866 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 2; ACCN2; 602953 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 1; HEY1; 603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4; 604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2; 604402 SIALYLTRANSFERASE 9; SIAT9; 604674 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 2; HEY2; 605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN; 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7; 607139 FANCA GENE; FANCA; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES; 607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1; 608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4; Clinical Synopsis for 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; Clinical Synopsis for 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B; Clinical Synopsis for 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

November 29, 2004
New Entries:: 300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB; 300515 FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 95-KD; 609018 HOLOCARBOXYLASE SYNTHETASE; HLCS; 609019 BIOTINIDASE; BTD; 609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3; 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8; 609052 SPONDYLOMETAPHYSEAL DYSPLASIA TYPE A4
Changed Entries:: 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1; 108731 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 1; ATP2B1; 108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2; 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1; 123829 CYCLIN-DEPENDENT KINASE 4; CDK4; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 135900 FIFTH DIGIT SYNDROME; 151750 LIPASE, HORMONE-SENSITIVE; LIPE; 154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4; 210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; 227650 FANCONI ANEMIA; FA; 227660 MOVED TO 300514; 253260 BIOTINIDASE DEFICIENCY; 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; 300014 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 3; ATP2B3; 300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB; 600185 BREAST CANCER 2 GENE; BRCA2; 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2; 600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE; 601555 RAS HOMOLOG GENE FAMILY, MEMBER N; ARHN; 602924 RAS HOMOLOG GENE FAMILY, MEMBER E; ARHE; 603570 VANIN 1; VNN1; 605278 CARBOXYLESTERASE 2; CES2; 606955 ZINC FINGER PROTEIN 224; ZNF224; 607139 FANCA GENE; FANCA; 607483 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE; 608111 PHD FINGER PROTEIN 9; PHF9; 608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1; 609049 MICROCORIA-CONGENITAL NEPHROSIS SYNDROME

November 24, 2004
New Entries:: 609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1; 609049 MICROCORIA-CONGENITAL NEPHROSIS SYNDROME; 609050 METASTASIS-ASSOCIATED GENE 3; MTA3
Changed Entries:: 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 176250 POSTERIOR COLUMN ATAXIA; 180902 RYANODINE RECEPTOR 2; RYR2; 186945 FK506-BINDING PROTEIN 1A; FKBP1A; 187270 TELOMERE REVERSE TRANSCRIPTASE; TERT; 249660 MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES; 263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2; 601769 VITAMIN D RECEPTOR; VDR; 602686 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1; MAD1L1; 605681 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B; 605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B; 605852 CLIP-ASSOCIATED PROTEIN 1; CLASP1; 609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27

November 23, 2004
New Entries:: 300513 G PROTEIN-COUPLED RECEPTOR 119; GPR119; 609010 3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1; 609014 3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2; 609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,; 609038 RHO FAMILY GTPase 1; RND1; 609039 NARCOLEPSY 3; 609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; 609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27; 609042 OPSIN 5; OPN5; 609043 G PROTEIN-COUPLED RECEPTOR 100; GPR100; 609044 G PROTEIN-COUPLED RECEPTOR 120; GPR120; 609045 G PROTEIN-COUPLED RECEPTOR 141; GPR141; 609046 G PROTEIN-COUPLED RECEPTOR 142; GPR142; 609047 SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA; Clinical Synopsis for 607271 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; ALPS2B; Clinical Synopsis for 608957 CD8 DEFICIENCY, FAMILIAL; Clinical Synopsis for 609039 NARCOLEPSY 3
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 108732 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 4; ATP2B4; 125647 DESMOPLAKIN; DSP; 129190 ECTO-5-PRIME NUCLEOTIDASE; NT5E; 139320 GNAS COMPLEX LOCUS; GNAS; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 152430 LONGEVITY; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 161400 NARCOLEPSY 1; NRCLP1; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 165215 ECOTROPIC VIRAL INTEGRATION SITE 1; EVI1; 176430 PREMATURE CENTROMERE DIVISION; PCD; 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA; 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; 210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; 219800 CYSTINOSIS, NEPHROPATHIC; CTNS; 241200 BARTTER SYNDROME, ANTENATAL, TYPE 2; 249800 REMOVED FROM DATABASE; 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS; 257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; 600909 LANOSTEROL SYNTHASE; LSS; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601430 REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1; 601507 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 3, 22-KD; CLAPS3; 601522 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 7; GRB7; 601555 RAS HOMOLOG GENE FAMILY, MEMBER N; ARHN; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; PRKWNK4; 602416 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-2 SUBUNIT; AP3S2; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 602861 PLAKOPHILIN 2; PKP2; 602924 RAS HOMOLOG GENE FAMILY, MEMBER E; ARHE; 602937 CBP/p300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH C-TERMINAL; 603314 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 5; SLC27A5; 603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, B; GCMB; 604196 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 6; SLC27A6; 604582 A-KINASE ANCHOR PROTEIN 2; AKAP2; 604694 A-KINASE ANCHOR PROTEIN 10; AKAP10; 604791 TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10; 605721 JUNCTION ADHESION MOLECULE 1; JAM1; 605841 NARCOLEPSY 2; 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C; 606054 PROPIONICACIDEMIA; 606409 ITCHY, MOUSE, HOMOLOG OF; ITCH; 606870 JUNCTIONAL ADHESION MOLECULE 2; JAM2; 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3; 607246 ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607651 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 1;; 607921 RETINITIS PIGMENTOSA 30; RP30; 607935 PEPTIDYLARGININE DEIMINASE, TYPE II; PADI2; 607945 ADIPONECTIN RECEPTOR 1; 607946 ADIPONECTIN RECEPTOR 2; 607970 G PROTEIN-COUPLED RECEPTOR 135; GPR135; 609010 3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1; 609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27; 609042 OPSIN 5; OPN5; Clinical Synopsis for 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1; Clinical Synopsis for 148050 KBG SYNDROME; Clinical Synopsis for 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; Clinical Synopsis for 161400 NARCOLEPSY 1; NRCLP1; Clinical Synopsis for 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; Clinical Synopsis for 252650 MUCOLIPIDOSIS IV; Clinical Synopsis for 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD; Clinical Synopsis for 600884 CARDIOMYOPATHY, DILATED, 1B; CMD1B; Clinical Synopsis for 601419 DESMINOPATHY, PRIMARY; Clinical Synopsis for 607323 DUANE-RADIAL RAY SYNDROME; DRRS; Clinical Synopsis for 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL

November 19, 2004
New Entries:: 609029 EMANUEL SYNDROME; 609034 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF-LIKE PROTEIN; HEYL; 609035 RAS ASSOCIATION AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN; 609036 APBB1-INTERACTING PR0TEIN; APBB1IP
Changed Entries:: 115470 CAT EYE SYNDROME; CES; 147670 INSULIN RECEPTOR; INSR; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 165215 ECOTROPIC VIRAL INTEGRATION SITE 1; EVI1; 173870 ADP-RIBOSYLTRANSFERASE; ADPRT; 182141 SEMENOGELIN II; SEMG2; 190685 DOWN SYNDROME; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A; 607271 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; ALPS2B; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 609029 EMANUEL SYNDROME; 609034 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF-LIKE PROTEIN; HEYL; Mini-MIM for 115470 CAT EYE SYNDROME; CES

November 18, 2004
New Entries:: 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8; 609031 SERINE PROTEASE INHIBITOR-LIKE PROTEIN WITH KUNITZ AND WAP DOMAINS; 609032 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY REGION GENE 2; FRG2
Changed Entries:: 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND; 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 122560 CORTICOTROPIN-RELEASING HORMONE; CRH; 142994 HOMEOBOX GENE HB9; HLXB9; 147620 INTERLEUKIN 6; IL6; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 161561 INTERLEUKIN 12B; IL12B; 176801 PROSAPOSIN; PSAP; 176920 PROTEUS SYNDROME; 177990 PTERYGIUM COLLI, ISOLATED; 188360 THYMOCYTE ANTIGEN CD1B; CD1B; 193250 VOLVULUS OF MIDGUT; 209850 AUTISM; 214700 CHLORIDE DIARRHEA, FAMILIAL; CLD; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 243500 ISOVALERICACIDEMIA; IVA; 243800 JOHANSON-BLIZZARD SYNDROME; JBS; 249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; 250100 METACHROMATIC LEUKODYSTROPHY; 256730 CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1; 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC; 277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 308350 INFANTILE SPASM SYNDROME, X-LINKED; 312750 RETT SYNDROME; RTT; 600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 601007 LEPTIN RECEPTOR; LEPR; 601230 DERMATITIS HERPETIFORMIS, FAMILIAL; 601278 FSHD GENE 1; FRG1; 601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10; 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8; 601783 MICROTUBULE-ASSOCIATED PROTEIN 6; MAP6; 601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 603031 TOLL-LIKE RECEPTOR 5; TLR5; 603043 NEUTRAL SPHINGOMYELINASE ACTIVATION-ASSOCIATED FACTOR; NSMAF; 603500 TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN;; 603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 605580 INTERLEUKIN 23-ALPHA; IL23A; 606221 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3; 607036 ISOVALERYL CoA DEHYDROGENASE; IVD; 607271 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; ALPS2B; 608029 CEREBELLAR ATAXIA 3

November 17, 2004
Changed Entries:: 116806 CATENIN, BETA-1; CTNNB1; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 170280 PERFORIN 1; PRF1; 183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND; 191160 TUMOR NECROSIS FACTOR; TNF; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 601288 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS; 603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES; 605217 SHC TRANSFORMING PROTEIN 2; SHC2; 605263 SHC TRANSFORMING PROTEIN 3; SHC3; 605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5; 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; 608788 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7; 609028 TRAF-INTERACTING PROTEIN WITH A FORKHEAD-ASSOCIATED DOMAIN; Clinical Synopsis for 608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT

November 16, 2004
New Entries:: 608957 CD8 DEFICIENCY, FAMILIAL; 609028 TRAF-INTERACTING PROTEIN WITH A FORKHEAD-ASSOCIATED DOMAIN
Changed Entries:: 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 126450 DOPAMINE RECEPTOR D2; DRD2; 133435 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1; 136140 FLOATING-HARBOR SYNDROME; 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 145500 HYPERTENSION, ESSENTIAL; 147660 INTERFERON, ALPHA-1; IFNA1; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 235600 HERMAPHRODITISM, TRUE; 480000 SEX-DETERMINING REGION Y; SRY; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601746 HYPOXIA UP-REGULATED 1; HYOU1; 601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 603691 GALANIN RECEPTOR 2; GALR2; 608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2

November 15, 2004
New Entries:: 609026 CATARACT, AGE-RELATED CORTICAL; 609027 INDIAN BLOOD GROUP SYSTEM; IN
Changed Entries:: 107269 CD44 ANTIGEN; CD44; 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 148050 KBG SYNDROME; 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 261600 PHENYLKETONURIA; 602221 ZINC FINGER PROTEIN 198; ZNF198; 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 608629 JOUBERT SYNDROME 3; JBTS3; 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1

November 12, 2004
New Entries:: 609025 KERATIN 6, HAIR FOLLICLE
Changed Entries:: 114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A; 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 148040 KERATIN 5; KRT5; 148041 KERATIN 6A; KRT6A; 148042 KERATIN 6B; KRT6B; 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; 166760 OTITIS MEDIA, SUSCEPTIBILITY TO; 300269 HISTONE DEACETYLASE 8; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 600589 SERUM RESPONSE FACTOR; SRF; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601533 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 2; ADAM2; 602073 MOVED TO 601533; 602889 MOVED TO 601533; 605548 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15; 605740 SCLEROSTIN; SOST; 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY; 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; Clinical Synopsis for 607095 ANAUXETIC DYSPLASIA

November 11, 2004
Changed Entries:: 104150 ALPHA-FETOPROTEIN; AFP; 104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD; 107741 APOLIPOPROTEIN E; APOE; 114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1; 114350 NUCLEOPORIN, 214-KD; NUP214; 116953 CYCLIN-DEPENDENT KINASE 2; CDK2; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 123837 CYCLIN E1; CCNE1; 125264 DEK ONCOGENE; DEK; 131235 KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 1; KDELR1; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS; 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 168450 PARATHYROID HORMONE; PTH; 168820 PARAOXONASE 1; PON1; 176960 PROTEIN KINASE C, ALPHA; PRKCA; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 186590 SYNTAXIN 1A; STX1A; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 241400 MOVED TO 146200; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 300502 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2; 600185 BREAST CANCER 2 GENE; BRCA2; 600886 HYPERFERRITINEMIA-CATARACT SYNDROME; 601198 MOVED TO 146200; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601426 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 2; NR2C2; 602468 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9A; PPP1R9A; 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1; 606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L

November 10, 2004
New Entries:: 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY; 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 609021 PERIPHERAL CONE DYSTROPHY; 609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; 609023 MYOFIBRILLOGENESIS REGULATOR 1; 609024 KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 2; KDELR2
Changed Entries:: 109650 BEHCET SYNDROME; 120470 DELETED IN COLORECTAL CARCINOMA; DCC; 136880 FUNDUS ALBIPUNCTATUS; 143100 HUNTINGTON DISEASE; HD; 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 152310 TISSUE FACTOR PATHWAY INHIBITOR; TFPI; 170100 PEPTIDASE D; PEPD; 176636 PRIMASE POLYPEPTIDE 2A; PRIM2A; 180020 RETINAL CONE DYSTROPHY 1; RCD1; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 300401 PROTEOLIPID PROTEIN 1; PLP1; 311601 PELIZAEUS-MERZBACHER-LIKE DISEASE; PMLD; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 600725 SONIC HEDGEHOG; SHH; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601617 RETINOL DEHYDROGENASE 5; RDH5; 602065 ADENOSINE DEAMINASE, RNA-SPECIFIC, B2; ADARB2; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 604167 CCCTC-BINDING FACTOR; CTCF; 604479 SIRTUIN 1; SIRT1; 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1; 608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D; 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY; 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 609021 PERIPHERAL CONE DYSTROPHY

November 9, 2004
Changed Entries:: 125660 DESMIN; DES; 163950 NOONAN SYNDROME 1; NS1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 170250 LEUCINE AMINOPEPTIDASE 3; LAP3; 176635 PRIMASE POLYPEPTIDE 1; PRIM1; 176636 PRIMASE POLYPEPTIDE 2A; PRIM2A; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 300144 GLUTAMATE DEHYDROGENASE 2; GLUD2; 310600 NORRIE DISEASE; NDP; 312040 POLYMERASE, DNA, ALPHA; POLA; 600033 TISSUE FACTOR PATHWAY INHIBITOR 2; TFPI2; 600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601556 ATAXIN 1; ATXN1; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 604402 SIALYLTRANSFERASE 9; SIAT9; 605116 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 9; CHRNA9; 607931 ATAXIN 2-LIKE; ATXN2L; 607938 NEUROTRIMIN; 608937 SH2B, MOUSE, HOMOLOG OF; Clinical Synopsis for 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; Clinical Synopsis for 312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2

November 8, 2004
New Entries:: 609017 ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP; 609020 PROSTATE-SPECIFIC MEMBRANE ANTIGEN-LIKE
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 168820 PARAOXONASE 1; PON1; 176640 PRION PROTEIN; PRNP; 179620 RAPH BLOOD GROUP SYSTEM; 307700 HYPOPARATHYROIDISM, X-LINKED; HYPX; 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3; 600934 FOLATE HYDROLASE 1; FOLH1; 601517 ATAXIN 2; ATXN2; 602243 CD151 ANTIGEN; CD151; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 607047 ATAXIN 3; ATXN3; 607640 ATAXIN 7; ATXN7; 608998 TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 1; TSSC1

November 5, 2004
Changed Entries:: 106300 ANKYLOSING SPONDYLITIS; 110750 BLOOD GROUP--GERBICH; Ge; 125240 DECAY-ACCELERATING FACTOR FOR COMPLEMENT; DAF; 147570 INTERFERON, GAMMA; IFNG; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 173470 INTEGRIN, BETA-3; ITGB3; 182230 SEPTOOPTIC DYSPLASIA; 182305 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 1; SLC8A1; 185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2; 254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN; 270150 SJOGREN SYNDROME; 300414 PHD FINGER PROTEIN 6; PHF6; 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600719 NITRIC OXIDE SYNTHASE 2B; NOS2B; 600720 NITRIC OXIDE SYNTHASE 2C; NOS2C; 601528 VASCULAR ENDOTHELIAL GROWTH FACTOR C; VEGFC; 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI; 601737 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 601884 HIGH BONE MASS; HBM; 604011 UNC119, C. ELEGANS, HOMOLOG OF; UNC119; 606255 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6; 607358 AUTOIMMUNE REGULATOR; AIRE; 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA; 607759 INTEGRIN, ALPHA-2B; ITGA2B; 607961 SEMAPHORIN 7A; SEMA7A

November 4, 2004
New Entries:: 609011 VASOHIBIN; 609012 WD REPEAT-CONTAINING PROTEIN 5; WDR5; 609013 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4C1; SLCO4C1
Changed Entries:: 104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD; 104311 PRESENILIN 1; PSEN1; 107741 APOLIPOPROTEIN E; APOE; 108961 NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 130130 ELASTASE 2; ELA2; 134797 FIBRILLIN 1; FBN1; 136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3; 142340 HERNIA, DIAPHRAGMATIC; 150330 LAMIN A/C; LMNA; 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 162150 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1; 172470 PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1; PHKG1; 174763 POLYMERASE, DNA, GAMMA; POLG; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 181500 SCHIZOPHRENIA; SCZD; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 186940 CD4 ANTIGEN; CD4; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 263300 POLYCYTHEMIA VERA; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 301050 ALPORT SYNDROME, X-LINKED; ATS; 307800 HYPOPHOSPHATEMIA, X-LINKED; 311870 PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1; 600039 BCL2-LIKE 1; BCL2L1; 600755 SYNAPSIN II; SYN2; 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601460 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1; 602883 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1A2; SLCO1A2; 603009 DYSFERLIN; DYSF; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 604648 T-BOX 10; TBX10; 604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1; 604988 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2B1; SLCO2B1; 605418 DICKKOPF-LIKE 1; DKKL1; 605495 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3; 606092 DOPAMINE RECEPTOR-INTERACTING PROTEIN, 78-KD; 606272 CYSTINOSIN; CTNS; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607458 SPINOCEREBELLAR ATAXIA 18; SCA18; 607554 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 608346 MUSCULAR DYSTROPHY, CONGENITAL, ASSOCIATED WITH CALF HYPERTROPHY,; 608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA; 608515 NEUTROPHIL CYTOSOLIC FACTOR 2; NCF2; 608528 CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1; 608859 CD109 ANTIGEN; CD109; 608973 SALT-INDUCIBLE SERINE/THREONINE KINASE 2; 609012 WD REPEAT-CONTAINING PROTEIN 5; WDR5

November 3, 2004
New Entries:: 609008 MARFANOID HABITUS WITH SITUS INVERSUS
Changed Entries:: 104640 AMPHIREGULIN; AREG; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 105830 ANGELMAN SYNDROME; AS; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 126453 DOPAMINE RECEPTOR D5; DRD5; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 143100 HUNTINGTON DISEASE; HD; 147575 INTERFERON REGULATORY FACTOR 1; IRF1; 147920 KABUKI SYNDROME; 148820 WAARDENBURG SYNDROME, TYPE III; WS3; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 163905 HIGH MOBILITY GROUP BOX 1; HMGB1; 163950 NOONAN SYNDROME 1; NS1; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 181500 SCHIZOPHRENIA; SCZD; 230800 GAUCHER DISEASE, TYPE I; 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 590095 TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW; 600302 FRYNS MACROCEPHALY; 600345 BETACELLULIN; BTC; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 602061 EPIREGULIN; EREG; 602368 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2; 603313 POTASSIUM CHANNEL REGULATOR 1; 603902 BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE; 604103 TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1; PSORAS1; 608091 CEREBELLOOCULORENAL SYNDROME 2; CORS2; 608249 CYCLIN B1 INTERACTING PROTEIN 1; CCNB1IP1; 608259 IGF2 mRNA-BINDING PROTEIN 3; 608266 PARATHYROID CARCINOMA; 608985 RING FINGER PROTEIN 2; RNF2; 609008 MARFANOID HABITUS WITH SITUS INVERSUS

November 2, 2004
New Entries:: 300512 WD REPEAT-CONTAINING PROTEIN 13; WDR13; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609009 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
Changed Entries:: 104700 AMYLASE, SALIVARY; AMY1; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 114480 BREAST CANCER; 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE; 119530 OROFACIAL CLEFT 1; OFC1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 147660 INTERFERON, ALPHA-1; IFNA1; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 176705 PROHIBITIN; PHB; 181500 SCHIZOPHRENIA; SCZD; 182290 SMITH-MAGENIS SYNDROME; SMS; 188840 TITIN; TTN; 203310 ALBINISM, OCULAR, AUTOSOMAL RECESSIVE; OAR; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 225500 ELLIS-VAN CREVELD SYNDROME; EVC; 231300 GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A; 233300 OVARIAN DYSGENESIS 1; ODG1; 252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2; 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX; 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15; 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6; 300510 OVARIAN DYSGENESIS 2; ODG2; 300511 PREMATURE OVARIAN FAILURE 2; POF2; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS; 600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601556 ATAXIN 1; ATX1; 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1; 602069 NEUROPILIN 1; NRP1; 602544 PARKIN; PARK2; 602745 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, BETA; PIP5K1B; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 603140 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, ALPHA; PIP5K2A; 603261 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B; 603848 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6; NDUFS6; 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6; 605250 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 4; ABCC4; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 606165 BOL-LIKE; BOLL; 606361 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5B; WNT5B; 607060 PARKINSON DISEASE 8; PARK8; 607759 INTEGRIN, ALPHA-2B; ITGA2B; 608121 PARVIN, BETA; PARVB; 608830 RETINOL DEHYDROGENASE 12; RDH12; 608943 CYTOKINE-INDUCED APOPTOSIS INHIBITOR 1; CIAPIN1; 608996 PREMATURE OVARIAN FAILURE 3; POF3; 608997 MOVED TO 300512

November 1, 2004
New Entries:: Clinical Synopsis for 608984 ATAXIA, SENSORY, AUTOSOMAL DOMINANT
Changed Entries:: 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 182125 SEPIAPTERIN REDUCTASE; SPR; 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 602069 NEUROPILIN 1; NRP1; 602070 NEUROPILIN 2; NRP2; 602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604277 SPG4 GENE; SPG4; Clinical Synopsis for 114480 BREAST CANCER; Clinical Synopsis for 162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL; Clinical Synopsis for 300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT; Clinical Synopsis for 304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2; Clinical Synopsis for 305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD; Clinical Synopsis for 309350 MELNICK-NEEDLES SYNDROME; MNS; Clinical Synopsis for 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1; Clinical Synopsis for 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

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OMIM Update List for November, 2004

November 30, 2004

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