OMIM Update List for August, 2006

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Nucleotide

Protein

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OMIM Update List for August, 2006

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August 31, 2006
New Entries:: 610365 C1Q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 1; C1QTNF1; 610366 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-1 SUBUNIT; AP3M1; 610367 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1
Changed Entries:: 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2; 138079 GLUCOKINASE; GCK; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 165720 OSTEOARTHRITIS; 201810 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 312750 RETT SYNDROME; RTT; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 601507 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-1 SUBUNIT; AP3S1; 602416 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-2 SUBUNIT; AP3S2; 602667 NBS1 GENE; NBS1; 603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ADIPOQ; 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1; 607246 ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1; 610365 C1Q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 1; C1QTNF1; 610366 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-1 SUBUNIT; AP3M1; 610367 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1

August 30, 2006
New Entries:: 610363 PEPTIDYLARGININE DEIMINASE, TYPE VI; PADI6; 610364 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 1; TMBIM1
Changed Entries:: 119530 OROFACIAL CLEFT 1; OFC1; 120430 COLOBOMA OF OPTIC NERVE; 147020 IMMUNOGLOBULIN MU; IGHM; 147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC; 147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1; 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID; 251260 NIJMEGEN BREAKAGE SYNDROME; 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15; 600311 GRANZYME M; GZMM; 600355 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 1; BIRC1; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601147 GROWTH/DIFFERENTIATION FACTOR 6; GDF6; 601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; 602463 DIHYDROPYRIMIDINASE-LIKE 2; DPYSL2; 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 603545 ENLARGED VESTIBULAR AQUEDUCT SYNDROME; 604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 606522 GROWTH/DIFFERENTIATION FACTOR 3; GDF3; 606810 PROLINE DEHYDROGENASE; PRODH; 610363 PEPTIDYLARGININE DEIMINASE, TYPE VI; PADI6; 610364 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 1; TMBIM1

August 29, 2006
New Entries:: 610360 MUCIN 20, CELL SURFACE-ASSOCIATED; MUC20; 610361 OROFACIAL CLEFT 9
Changed Entries:: 106210 ANIRIDIA, TYPE II; AN2; 108300 STICKLER SYNDROME, TYPE I; STL1; 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1; 120430 COLOBOMA OF OPTIC NERVE; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 123840 PEPTIDYL-PROLYL ISOMERASE A; PPIA; 126450 DOPAMINE RECEPTOR D2; DRD2; 126451 DOPAMINE RECEPTOR D3; DRD3; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 131290 ENGRAILED 1; EN1; 131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET; 140300 HASHIMOTO THYROIDITIS; 147576 INTERFERON REGULATORY FACTOR 2; IRF2; 150570 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 176640 PRION PROTEIN; PRNP; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 188340 THYMOCYTE ANTIGEN CD1C; CD1C; 235730 MOWAT-WILSON SYNDROME; 239500 HYPERPROLINEMIA, TYPE I; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS; 312750 RETT SYNDROME; RTT; 600850 SCHIZOPHRENIA 4; SCZD4; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8; 602046 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 3; PDIA3; 602215 DEFENSIN, BETA, 4; DEFB4; 602544 PARKIN; PARK2; 602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9; 603149 INTERLEUKIN 17; IL17; 604277 SPG4 GENE; SPG4; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 604895 T-BOX 21; TBX21; 605461 INTERLEUKIN 17 RECEPTOR; IL17R; 605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B; 606439 SPG3A GENE; SPG3A; 606446 SLAM FAMILY, MEMBER 6; SLAMF6; 606496 INTERLEUKIN 17F; IL17F; 607108 PAIRED BOX GENE 6; PAX6; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 608382 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 3; DNAJA3; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609694 GEM-INTERACTING PROTEIN; GMIP; 610361 OROFACIAL CLEFT 9

August 28, 2006
New Entries:: 610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4; 610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30
Changed Entries:: 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 118502 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2; 121012 GAP JUNCTION PROTEIN, ALPHA-4; GJA4; 147683 INTERLEUKIN 13; IL13; 148041 KERATIN 6A; KRT6A; 173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 177400 BUTYRYLCHOLINESTERASE; BCHE; 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 218040 COSTELLO SYNDROME; 236000 HODGKIN LYMPHOMA; 239000 PAGET DISEASE, JUVENILE; 261540 PETERS-PLUS SYNDROME; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 300590 CORNELIA DE LANGE SYNDROME, X-LINKED; 312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A; 600185 BREAST CANCER 2 GENE; BRCA2; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1; 600519 GENERAL TRANSCRIPTION FACTOR IIA, GAMMA SUBUNIT; GTF2A2; 600623 CD82 ANTIGEN; CD82; 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9; 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE; 604895 T-BOX 21; TBX21; 605357 STONIN 1; STON1; 605358 TFIIA-ALPHA/BETA-LIKE FACTOR; 605363 GLUTAMATE DECARBOXYLASE 1; GAD1; 606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1; 606655 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8; LGR8; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; 610308 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL; 610358 SIGNAL PEPTIDASE COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; SPCS1; Clinical Synopsis for 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

August 25, 2006
New Entries:: 610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA; 610356 RETINAL CONE DYSTROPHY 3B; RCD3B; 610358 SIGNAL PEPTIDASE COMPLEX, SUBUNIT 1, YEAST, HOMOLOG OF; SPCS1
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 122470 CORNELIA DE LANGE SYNDROME; CDLS; 137960 MPV17, MOUSE, HOMOLOG OF; MPV17; 142340 DIAPHRAGMATIC HERNIA, CONGENITAL; 145500 HYPERTENSION, ESSENTIAL; 149400 HYPEREKPLEXIA, HEREDITARY; 164210 HEMIFACIAL MICROSOMIA; HFM; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 181500 SCHIZOPHRENIA; SCZD; 188400 DIGEORGE SYNDROME; DGS; 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; 209850 AUTISM; 222400 DIAPHRAGMATIC HERNIA 2; DIH2; 245300 KURU, SUSCEPTIBILITY TO; 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM; 256810 NAVAJO NEUROHEPATOPATHY; NN; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 300169 PROGRAMMED CELL DEATH 8; PDCD8; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 305600 FOCAL DERMAL HYPOPLASIA; DHOF; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA; 601190 PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA; PDE6H; 602166 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-2 SUBUNIT; AP3B2; 602361 GRACILE BONE DYSPLASIA; 602536 RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 603680 SCA8 GENE; SCA8; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 606170 GENITOPATELLAR SYNDROME; 607604 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2; 607748 HYPERCHOLANEMIA, FAMILIAL; FHCA; 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV; 608363 MICRODUPLICATION 22q11.2; 608667 NIPPED-B-LIKE; NIPBL; 609427 LHFP-LIKE PROTEIN 5; LHFPL5; 609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA; 610024 RETINAL CONE DYSTROPHY 3A; RCD3A; 610187 DIAPHRAGMATIC HERNIA 3; 610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME; Clinical Synopsis for 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF

August 24, 2006
New Entries:: 610351 MEK1 SUPPRESSOR 1; 610352 MEK1 SUPPRESSOR 2; 610354 CONNEXIN 43-INTERACTING PROTEIN, 150-KD; CIP150; 610355 PARTNER AND LOCALIZER OF BRCA2
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 107741 APOLIPOPROTEIN E; APOE; 111730 BETA-1,4-N-ACETYL-GALACTOSAMINYLTRANSFERASE 2; B4GALNT2; 116896 CUT-LIKE, 1; CUTL1; 118930 SECRETOGRANIN II; SCG2; 119530 OROFACIAL CLEFT 1; OFC1; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 124092 INTERLEUKIN 10; IL10; 145500 HYPERTENSION, ESSENTIAL; 162641 NEUROPEPTIDE Y RECEPTOR Y1; NPY1R; 181500 SCHIZOPHRENIA; SCZD; 182940 NEURAL TUBE DEFECTS; 186780 CD247 ANTIGEN; CD247; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 231100 HEMOCHROMATOSIS, NEONATAL; 271900 CANAVAN DISEASE; 300017 FILAMIN A; FLNA; 300401 PROTEOLIPID PROTEIN 1; PLP1; 300412 MOVED TO 300166; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8; 601628 MOVED TO 111730; 602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1; 602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6; 603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1; 603680 SCA8 GENE; SCA8; 604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY; 604159 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER; 605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23; 605930 SORTING NEXIN 3; SNX3; 605989 PROTEIN INHIBITOR OF ACTIVATED STAT4; PIAS4; 606034 RIBONUCLEASE H2, LARGE SUBUNIT; RNASEH2A; 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12; 606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5; 607001 EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1; 607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 607826 S-ADENOSYLHOMOCYSTEINE HYDROLASE-LIKE 1; AHCYL1; 608389 BRANCHIOOTIC SYNDROME 3; 608784 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8; 610054 H2A HISTONE FAMILY, MEMBER Y; H2AFY; 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;; 610297 PARKINSON DISEASE 13; PARK13; 610350 LINES, DROSOPHILA, HOMOLOG OF, 1; LINS1; 610351 MEK1 SUPPRESSOR 1

August 23, 2006
New Entries:: 610345 MULTISUBSTRATE LIPID KINASE; MULK; 610350 LINES, DROSOPHILA, HOMOLOG OF, 1; LINS1
Changed Entries:: 103195 ADIPOSE DIFFERENTIATION-RELATED PROTEIN; ADRP; 113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I; PFHBI; 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1; 162641 NEUROPEPTIDE Y RECEPTOR Y1; NPY1R; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 181500 SCHIZOPHRENIA; SCZD; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 300035 EPHRIN B1; EFNB1; 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS; 304110 CRANIOFRONTONASAL SYNDROME; CFNS; 305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2; 313700 ANDROGEN RECEPTOR; AR; 600687 T-CELL LYMPHOMA INVASION AND METASTASIS 1; TIAM1; 601610 BUTYROPHILIN, SUBFAMILY 1, MEMBER A; BTN1A1; 601813 EXUDATIVE VITREORETINOPATHY 4; EVR4; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 604457 NUCLEAR BODY PROTEIN SP110; SP110; 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, LOCUS 1; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 605750 EXUDATIVE VITREORETINOPATHY 3; EVR3; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; Clinical Synopsis for 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

August 22, 2006
New Entries:: 610336 NUCLEAR-LOCALIZED FACTOR 3; 610347 CYCLIN-DEPENDENT KINASE INHIBITOR 2B-RELATED PROTEIN; 610348 CHROMOSOME 10 OPEN READING FRAME 6; C10ORF6; 610349 MEF2-ACTIVATING SAP TRANSCRIPTIONAL REGULATOR
Changed Entries:: 114120 MOVED TO 211900; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 125100 MOVED TO 602588; 134640 FATTY ACID-BINDING PROTEIN 2; FABP2; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 147880 INTERLEUKIN 6 RECEPTOR; IL6R; 151623 LI-FRAUMENI SYNDROME 1; LFS1; 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1; 163890 SYNUCLEIN, ALPHA; SNCA; 164600 MOVED TO 164400; 176730 INSULIN; INS; 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; 191170 TUMOR PROTEIN p53; TP53; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 235000 HEMIHYPERPLASIA, ISOLATED; IH; 251290 MOVED TO 225750; 271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA; 272480 MOVED TO 186700; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 309400 MENKES DISEASE; 312800 MOVED TO 600145; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603517 B-CELL CLL/LYMPHOMA 10; BCL10; 604238 SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1; 604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2; 604599 HLA-B-ASSOCIATED TRANSCRIPT 8; BAT8; 604860 MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1; MALT1; 606127 MYOCARDIN; MYOCD; 606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH; 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11; 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2; 608505 MOVED TO 225750; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 610343 NUCLEAR-LOCALIZED FACTOR 1; 610344 NUCLEAR-LOCALIZED FACTOR 2; 610347 CYCLIN-DEPENDENT KINASE INHIBITOR 2B-RELATED PROTEIN; Clinical Synopsis for 114120 MOVED TO 211900; Clinical Synopsis for 125100 MOVED TO 602588; Clinical Synopsis for 164600 MOVED TO 164400; Clinical Synopsis for 251290 MOVED TO 225750; Clinical Synopsis for 272480 MOVED TO 186700; Clinical Synopsis for 312800 MOVED TO 600145; Clinical Synopsis for 608505 MOVED TO 225750

August 21, 2006
New Entries:: 300612 BROOKS-WISNIEWSKI-BROWN SYNDROME; 610337 HEPATITIS B VIRUS-ENCODED X ANTIGEN-UPREGULATED GENE 4; 610343 NUCLEAR-LOCALIZED FACTOR 1; 610344 NUCLEAR-LOCALIZED FACTOR 2; 610346 CDC37-LIKE 1; CDC37L1
Changed Entries:: 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 136140 FLOATING-HARBOR SYNDROME; 136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB; 139250 GROWTH HORMONE 1; GH1; 139320 GNAS COMPLEX LOCUS; GNAS; 146110 HYPOGONADOTROPIC HYPOGONADISM; 151100 LEOPARD SYNDROME; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 191318 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 2; U2AF2; 480000 SEX-DETERMINING REGION Y; SRY; 600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2; 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18;; 603240 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18,; 607117 MCPH1 GENE; MCPH1; 608537 VHL GENE; VHL; 608818 NETRIN G1; NTNG1; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 610337 HEPATITIS B VIRUS-ENCODED X ANTIGEN-UPREGULATED GENE 4; 610343 NUCLEAR-LOCALIZED FACTOR 1; 610344 NUCLEAR-LOCALIZED FACTOR 2; 610346 CDC37-LIKE 1; CDC37L1; Clinical Synopsis for 125400 DENTIN DYSPLASIA, TYPE I; Clinical Synopsis for 125490 DENTINOGENESIS IMPERFECTA 1; DGI1; Clinical Synopsis for 140350 HAWKINSINURIA; Clinical Synopsis for 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; Clinical Synopsis for 259610 OSTEOLYSIS SYNDROME, RECESSIVE; Clinical Synopsis for 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN; Clinical Synopsis for 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME

August 18, 2006
New Entries:: 300613 MYOPIA 13; 610326 RIBONUCLEASE H2, SUBUNIT B; RNASEH2B; 610329 AICARDI-GOUTIERES SYNDROME 3; AGS3; 610330 RIBONUCLEASE H2, SUBUNIT C; RNASEH2C; 610333 AICARDI-GOUTIERES SYNDROME 4; AGS4; 610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL; 610339 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1; 610340 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4B; EPB41L4B; 610341 LEPRECAN-LIKE 1; LEPREL1; 610342 LEPRECAN-LIKE 2; LEPREL2
Changed Entries:: 109500 BASILAR IMPRESSION, PRIMARY; 114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET; 118420 CHIARI MALFORMATION TYPE I; 147585 MOVED TO 147660; 147920 KABUKI SYNDROME; 160700 MYOPIA 2; MYP2; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 171300 PHEOCHROMOCYTOMA; 182940 NEURAL TUBE DEFECTS; 186700 SYRINGOMYELIA, ISOLATED; 207950 CHIARI MALFORMATION TYPE II; 212112 CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 251290 MOVED TO 225750; 272480 MOVED TO 186700; 300240 HOYERAAL-HREIDARSSON SYNDROME; HHS; 300431 ATKIN-FLAITZ SYNDROME; 300602 CLARK-BARAITSER SYNDROME; 502000 AGING; 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 605039 C-LIKE SYNDROME; 606034 RIBONUCLEASE H2, LARGE SUBUNIT; RNASEH2A; 606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 606693 PARKINSON DISEASE 9; PARK9; 606852 PARKINSON DISEASE 10; PARK10; 608505 MOVED TO 225750; 608537 VHL GENE; VHL; 610181 AICARDI-GOUTIERES SYNDROME 2; AGS2; 610333 AICARDI-GOUTIERES SYNDROME 4; AGS4; 610341 LEPRECAN-LIKE 1; LEPREL1

August 17, 2006
New Entries:: 610332 OCULOOTOFACIAL DYSPLASIA; 610334 HEPATOCELLULAR CARCINOMA-ASSOCIATED ANTIGEN 112; 610335 PHD FINGER PROTEIN 20; PHF20
Changed Entries:: 214800 CHARGE SYNDROME; 232500 GLYCOGEN STORAGE DISEASE IV; 235730 MOWAT-WILSON SYNDROME; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 601556 ATAXIN 1; ATXN1; 605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B; 607115 CINCA SYNDROME; CINCA; 607839 GLYCOGEN BRANCHING ENZYME; GBE1; 610323 METADHERIN; MTDH; 610332 OCULOOTOFACIAL DYSPLASIA

August 16, 2006
New Entries:: 610323 METADHERIN; MTDH; 610324 3-@OXOACYL-ACP SYNTHASE, MITOCHONDRIAL; OXSM; 610325 NUCLEAR DISTRIBUTION GENE C, A. NIDULANS, HOMOLOG OF; NUDC; 610327 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 1; RUFY1; 610328 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 2; RUFY2; 610331 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 6; HES6
Changed Entries:: 118450 ALAGILLE SYNDROME 1; ALGS1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 182290 SMITH-MAGENIS SYNDROME; SMS; 187500 TETRALOGY OF FALLOT; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 208900 ATAXIA-TELANGIECTASIA; AT; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 245550 LAMBERT SYNDROME; 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15; 300510 OVARIAN DYSGENESIS 2; ODG2; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2; 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3; 600288 FORKHEAD BOX A2; FOXA2; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL; 601920 JAGGED 1; JAG1; 602768 DELTA-LIKE 3; DLL3; 602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6; 603836 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA/BETA SUBCOMPLEX, 1; NDUFAB1; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 604312 CYSTATIN 3; CST3; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 606582 DELTA-LIKE 1; DLL1; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608063 BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF; 610205 ALAGILLE SYNDROME 2; ALGS2; 610296 NUDC DOMAIN-CONTAINING PROTEIN 3; NUDCD3; 610321 PROSTATE CANCER, HEREDITARY, 7; 610323 METADHERIN; MTDH; 610327 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 1; RUFY1

August 15, 2006
New Entries:: 610320 MYOPIA 14; 610321 PROSTATE CANCER, HEREDITARY, 7; 610322 TRANSCRIPTIONAL REGULATING FACTOR 1; TRERF1
Changed Entries:: 142230 HEMATOPOIETIC PROGENITOR CELL ANTIGEN CD34; CD34; 160700 MYOPIA 2; MYP2; 176807 PROSTATE CANCER; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3; 271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601819 FETAL ALZHEIMER ANTIGEN; FALZ; 602759 PROSTATE CANCER, HEREDITARY, 8; 602812 HISTONE 1, H3C; HIST1H3C; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 604167 CCCTC-BINDING FACTOR; CTCF; 604215 INHIBITOR OF GROWTH 2; ING2; 604818 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 3; LILRA3; 605469 JUMONJI DOMAIN-CONTAINING PROTEIN 2C; JMJD2C; 608656 PROSTATE CANCER, HEREDITARY, 3; 609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A; 610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2; 610320 MYOPIA 14; 610322 TRANSCRIPTIONAL REGULATING FACTOR 1; TRERF1

August 14, 2006
New Entries:: 610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2; 610314 PIWI-LIKE 3: PIWIL3; 610315 PIWI-LIKE 4; PIWIL4; 610316 POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE 1; PNPT1; 610317 CORDON-BLEU, MOUSE, HOMOLOG OF; COBL; 610318 COBL-LIKE PROTEIN 1: COBLL1
Changed Entries:: 118946 CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR; 160777 MYOSIN VA; MYO5A; 168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC; 272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1; 300500 ALBINISM, OCULAR, TYPE I; OA1; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600385 ADENYLATE CYCLASE 7; ADCY7; 600386 INHIBITOR OF DNA BINDING 2; ID2; 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C; 601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2; 603466 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 1; ELAVL1; 603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1; 604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1; 605571 PIWI-LIKE 1; PIWIL1; 605580 INTERLEUKIN 23-ALPHA; IL23A; 605750 EXUDATIVE VITREORETINOPATHY, 3; EVR3; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607672 CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1; 609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A; 610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2

August 11, 2006
New Entries:: 610308 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL; 610311 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 28, S. CEREVISIAE,; 610312 PIWI-LIKE 2: PIWIL2
Changed Entries:: 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 144700 RENAL CELL CARCINOMA 1; RCC1; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 602016 KRUPPEL-LIKE FACTOR 2; KLF2; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 603930 GEPHYRIN; GPHN; 605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1; 605571 PIWI-LIKE 1; PIWIL1; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 608162 V-SET DOMAIN-CONTAINING T-CELL ACTIVATION INHIBITOR 1; VTCN1; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A; 610009 ARYLSULFATASE I; ARSI; 610010 ARYLSULFATASE J; ARSJ; 610011 ARYLSULFATASE K; ARSK; 610149 LOC387715 GENE; 610312 PIWI-LIKE 2: PIWIL2

August 10, 2006
New Entries:: 300611 C1GALT1-SPECIFIC CHAPERONE 1; C1GALT1C1; 610309 UBIQUITIN-CONJUGATING ENZYME E2S; UBE2S; 610310 LOC152586 GENE
Changed Entries:: 111730 BETA-1,4-N-ACETYL-GALACTOSAMINYLTRANSFERASE 2; B4GALNT2; 116947 CELL DIVISION CYCLE 25A; CDC25A; 137240 GASTRIC INHIBITORY POLYPEPTIDE; GIP; 139312 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE,; 155601 MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 193400 VON WILLEBRAND DISEASE; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2; 600623 CD82 ANTIGEN; CD82; 601556 ATAXIN 1; ATXN1; 601628 MOVED TO 111730; 601920 JAGGED 1; JAG1; 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609694 GEM-INTERACTING PROTEIN; GMIP; 609882 METAL-REGULATORY TRANSCRIPTION FACTOR 2; MTF2; 609932 SPERM ACROSOME-ASSOCIATED PROTEIN 4; SPACA4; 609936 SPINDLIN; SPIN; 610196 ELMO DOMAIN-CONTAINING PROTEIN 2; ELMOD2; 610205 ALAGILLE SYNDROME 2; AGS2; 610218 SAP30-BINDING PROTEIN; SAP30BP; 610228 CALPAIN 13; CAPN13; 610229 CALPAIN 14; CAPN14; 610231 POLYCOMB GROUP RING FINGER PROTEIN 1; PCGF1; 610235 MITOCHONDRIAL PROTEIN, 18-KD; 610289 3-@OXOACID CoA TRANSFERASE 2; OXCT2; 610290 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLRANSFERASE; 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1; 610296 NUDC DOMAIN-CONTAINING PROTEIN 3; NUDCD3; 610299 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 17;; 610300 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 18;; 610304 DER1-LIKE DOMAIN FAMILY, MEMBER 2; DERL2; 610305 DER1-LIKE DOMAIN FAMILY, MEMBER 3; DERL3

August 9, 2006
New Entries:: 610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; 610303 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG A; MAFA; 610304 DER1-LIKE DOMAIN FAMILY, MEMBER 2; DERL2; 610305 DER1-LIKE DOMAIN FAMILY, MEMBER 3; DERL3; 610306 NEPHRONECTIN; NPNT; 610307 CERAMIDE KINASE; CERK
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 102630 ACTIN, BETA; ACTB; 126800 DUANE RETRACTION SYNDROME 1; DURS1; 142445 NEUREGULIN 1; NRG1; 142955 HOMEOBOX A1; HOXA1; 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 147670 INSULIN RECEPTOR; INSR; 150330 LAMIN A/C; LMNA; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA; 176640 PRION PROTEIN; PRNP; 176730 INSULIN; INS; 181500 SCHIZOPHRENIA; SCZD; 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA; 245050 SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 600840 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601424 3-@OXOACID CoA TRANSFERASE 1; OXCT1; 601566 INHIBITOR OF GROWTH 1; ING1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602079 TRIMETHYLAMINURIA; TMAU; 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3; 602868 CELL DIVISION CYCLE 5, S. POMBE, HOMOLOG-LIKE; CDC5L; 604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1; 604356 DUANE RETRACTION SYNDROME 2; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 605541 VAV3 ONCOGENE; VAV3; 607103 ARGINYLTRANSFERASE 1; ATE1; 607117 MCPH1 GENE; MCPH1; 608381 CERAMIDE KINASE-LIKE; 608813 DER1-LIKE DOMAIN FAMILY, MEMBER 1; DERL1; 609882 METAL-REGULATORY TRANSCRIPTION FACTOR 2; MTF2; 610273 PHOSPHATIDYLINOSITOL GLYCAN, CLASS M; PIGM; 610289 3-@OXOACID CoA TRANSFERASE 2; OXCT2; 610302 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE

August 8, 2006
New Entries:: 610299 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 17;; 610300 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 18;; 610301 TRANSMEMBRANE PROTEIN 57; TMEM57; 610302 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING, ALPHA-MANNOSIDASE-LIKE
Changed Entries:: 107271 CD59 ANTIGEN P18-20; CD59; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 122470 CORNELIA DE LANGE SYNDROME; CDLS; 125240 DECAY-ACCELERATING FACTOR FOR COMPLEMENT; DAF; 125264 DEK ONCOGENE; DEK; 135900 COFFIN-SIRIS SYNDROME; 136470 FOLLISTATIN; FST; 158340 MUCIN 1, TRANSMEMBRANE; MUC1; 179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1; 188060 THROMBOSPONDIN I; THBS1; 189909 TRANSCRIPTION FACTOR 8; TCF8; 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1; 191317 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 1; U2AF1; 191318 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 2; U2AF2; 234500 HARTNUP DISORDER; 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A; 303600 COFFIN-LOWRY SYNDROME; CLS; 603457 ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA; 603759 LIM HOMEOBOX GENE 2; LHX2; 604411 INNER CENTROMERE PROTEIN; INCENP; 607971 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, MEMBER 15;; 607972 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 16;; 608685 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1B; SMC1B; 609147 RIC8, C. ELEGANS, HOMOLOG OF, B; 610298 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 2; PHLDB2

August 7, 2006
New Entries:: 610298 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 2; PHLDB2
Changed Entries:: 114480 BREAST CANCER; 120700 COMPLEMENT COMPONENT 3; C3; 125660 DESMIN; DES; 134370 COMPLEMENT FACTOR H; CFH; 153670 BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 258660 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO; 300451 ED1 GENE; ED1; 600978 LYMPHOTOXIN-BETA; LTB; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 604370 OVARIAN CANCER, EPITHELIAL; 604798 HOMER, DROSOPHILA, HOMOLOG OF, 1; HOMER1; 604799 HOMER, DROSOPHILA, HOMOLOG OF, 2; HOMER2; 604800 HOMER, DROSOPHILA, HOMOLOG OF, 3; HOMER3; 606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 607127 RAB6-INTERACTING PROTEIN 2; RAB6IP2; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, COMPLEMENTATION GROUP 6; ERCC6

August 4, 2006
New Entries:: 610289 3-@OXOACID CoA TRANSFERASE 2; OXCT2; 610296 NUDC DOMAIN-CONTAINING PROTEIN 3; NUDCD3; 610297 PARKINSON DISEASE 13; PARK13
Changed Entries:: 123858 CYSTATIN 5; CST5; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 154582 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 1; MAN2A1; 168600 PARKINSON DISEASE; PD; 176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A; PAPPA; 245050 3-@OXOACID CoA TRANSFERASE 1; OXCT1; 300037 GLYPICAN 3; GPC3; 600440 ENDONUCLEASE G, MITOCHONDRIAL; ENDOG; 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 600953 INTERLEUKIN 18; IL18; 600988 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 2; MAN2A2; 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1; 604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR; 604110 G PROTEIN-COUPLED RECEPTOR 56; GPR56; 606109 NUDC DOMAIN-CONTAINING PROTEIN 1; NUDCD1; 606441 PROTEASE, SERINE, 25; PRSS25; 607747 FILAMIN-BINDING LIM PROTEIN 1; FBLP1

August 3, 2006
New Entries:: Clinical Synopsis for 602535 MARSHALL-SMITH SYNDROME
Changed Entries:: 101200 APERT SYNDROME; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 116957 RETINOBLASTOMA-LIKE 1; RBL1; 150330 LAMIN A/C; LMNA; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191160 TUMOR NECROSIS FACTOR; TNF; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD; 277000 ROKITANSKY-KUSTER-HAUSER SYNDROME; 300292 FORKHEAD BOX P3; FOXP3; 300546 FGD1 GENE; FGD1; 303600 COFFIN-LOWRY SYNDROME; CLS; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B; 600838 WINGED HELIX NUDE; WHN; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART; 602535 MARSHALL-SMITH SYNDROME; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 605014 SYNTAXIN 11; STX11; 605039 C-LIKE SYNDROME; 606582 DELTA-LIKE 1; DLL1; 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG; 608156 NABLUS MASK-LIKE FACIAL SYNDROME; 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12; 610147 G PROTEIN-COUPLED BILE ACID RECEPTOR 1; GPBAR1; 610290 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLRANSFERASE

August 2, 2006
New Entries:: 610290 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLRANSFERASE; 610291 SYNAPTIC VESICLE GLYCOPROTEIN 2C; SV2C; 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1; 610294 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2; 610295 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 113600 BRANCHIAL CLEFT ANOMALIES; 113650 BRANCHIOOTORENAL SYNDROME; 120502 BRANCHIOOTIC SYNDROME 2; 125100 MOVED TO 602588; 132350 EPIMORPHIN; EPIM; 166780 OTOFACIOCERVICAL SYNDROME; 185860 SYNAPTIC VESICLE GLYCOPROTEIN 2A; SV2A; 185861 SYNAPTIC VESICLE GLYCOPROTEIN 2B; SV2B; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191170 TUMOR PROTEIN p53; TP53; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600167 HISTAMINE RECEPTOR H1; HRH1; 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601653 EYES ABSENT 1; EYA1; 602544 PARKIN; PARK2; 602581 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 3; GOLGA3; 602588 BRANCHIOOTIC SYNDROME 1; BOS1; 603783 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1; 604031 STEAROYL-CoA DESATURASE; SCD; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2; 605207 CYTOCHROME P450, SUBFAMILY XXVIB, POLYPEPTIDE 1; CYP26B1; 610290 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLRANSFERASE; 610291 SYNAPTIC VESICLE GLYCOPROTEIN 2C; SV2C; 610294 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2; 610295 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3

August 1, 2006
Changed Entries:: 120000 COARCTATION OF AORTA; 128700 PREAURICULAR FISTULAE, CONGENITAL; 150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 176450 CURRARINO SYNDROME; 176970 PROTEIN KINASE C, BETA-1; PRKCB1; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 181500 SCHIZOPHRENIA; SCZD; 184429 SRY-BOX 2; SOX2; 188400 DIGEORGE SYNDROME; DGS; 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; 192350 VATER ASSOCIATION; 192430 VELOCARDIOFACIAL SYNDROME; 241550 HYPOPLASTIC LEFT HEART SYNDROME; 308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 312800 MOVED TO 600145; 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE; 600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2; 600516 BCL2 ANTAGONIST KILLER 1; BAK1; 601205 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; SIX1; 601635 MOVED TO 608317; 602648 CHEMOKINE-BINDING PROTEIN 2; CCBP2; 604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1; 604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1; 605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23; 607108 PAIRED BOX GENE 6; PAX6; 608177 EXOSTOSIN 1; EXT1; 608317 GRAINYHEAD-LIKE 3; GRHL3; 608389 BRANCHIOOTIC SYNDROME 3; 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

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OMIM Update List for August, 2006

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