OMIM Update List for October, 2009

PubMed

Nucleotide

Protein

Genome

OMIM Update List for October, 2009

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October 30, 2009
Changed Entries:: 137167 GAMMA-GLUTAMYL CARBOXYLASE; GGCX; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 168600 PARKINSON DISEASE; PD; 174500 POLYDACTYLY, PREAXIAL II; PPD2; 174763 POLYMERASE, DNA, GAMMA; POLG; 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE; 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS; 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8; 602204 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 1; BICD1; 603050 ABL INTERACTOR 1; ABI1; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1; 605897 UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 1; UGGT1; 605898 UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 2; UGGT2; 605930 SORTING NEXIN 3; SNX3; 605931 SORTING NEXIN 4; SNX4; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 606778 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 1; SSH1; 606779 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 2; SSH2; 606780 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 3; SSH3; 606933 TYROSINASE; TYR; 607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2; 607509 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 607510 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 607511 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 607512 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 607513 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 607538 NDE1-LIKE 1; NDEL1; 608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 609113 TELOMERE LENGTH, MEAN LEUKOCYTE; 609449 NUDE, A. NIDULANS, HOMOLOG OF, 1; NDE1; 610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR; 610883 POTOCKI-LUPSKI SYNDROME; PTLS; 611681 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

October 29, 2009
New Entries:: 613107 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2; SCN2
Changed Entries:: 109770 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1; 114890 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5; CEACAM5; 143030 CD9 ANTIGEN; CD9; 163980 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6; 176300 TRANSTHYRETIN; TTR; 176396 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 7; PSG7; 176397 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 8; PSG8; 176398 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 9; PSG9; 176399 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 10; PSG10; 176401 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 11; PSG11; 183020 SPINAL MUSCULAR ATROPHY, SEGMENTAL; 187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5; 189490 MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA; 202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1; 215700 CITRULLINEMIA, CLASSIC; 219700 CYSTIC FIBROSIS; CF; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 590065 TRANSFER RNA, MITOCHONDRIAL, METHIONINE; MTTM; 600871 GROWTH FACTOR-INDEPENDENT 1; GFI1; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 601725 NEUROGENIC DIFFERENTIATION 2; NEUROD2; 601839 EPHRIN RECEPTOR EphB3; EPHB3; 601935 G PROTEIN PATHWAY SUPPRESSOR 2; GPS2; 601969 DELETED IN MALIGNANT BRAIN TUMORS 1; DMBT1; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602667 NIBRIN; NBN; 602851 G PROTEIN-COUPLED RECEPTOR 98; GPR98; 603076 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 1; ABCG1; 603149 INTERLEUKIN 17A; IL17A; 603391 LARYNGOTRACHEAL STENOSIS, PROGRESSIVE, WITH SHORT STATURE AND ARTHROPATHY; 603470 ARGININOSUCCINATE SYNTHETASE 1; ASS1; 603876 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 604003 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 2; CLCA2; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604337 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 3; CLCA3; 604539 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605007 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605008 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605009 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605011 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605018 CYLD GENE; CYLD; 605048 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 605174 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605175 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605421 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605472 USHER SYNDROME, TYPE IIC; USH2C; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 606001 INTERLEUKIN 32; IL32; 606184 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 607506 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 608379 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 2; CCRL2; 608996 PREMATURE OVARIAN FAILURE 3; POF3; 610339 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1; 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; 611230 NON-SMC CONDENSIN II COMPLEX SUBUNIT H2; NCAPH2; Clinical Synopsis for 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

October 28, 2009
Changed Entries:: 105120 AMYLOIDOSIS, FINNISH TYPE; 112263 BONE MORPHOGENETIC PROTEIN 3; BMP3; 112265 BONE MORPHOGENETIC PROTEIN 5; BMP5; 112266 BONE MORPHOGENETIC PROTEIN 6; BMP6; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 176391 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 2; PSG2; 176392 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 3; PSG3; 176393 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 4; PSG4; 176394 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 5; PSG5; 176395 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 6; PSG6; 211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1; 219700 CYSTIC FIBROSIS; CF; 224690 EAR, PATELLA, SHORT STATURE SYNDROME; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601361 GROWTH/DIFFERENTIATION FACTOR 10; GDF10; 602206 RAS-ASSOCIATED PROTEIN RAB17; RAB17; 602207 RAS-ASSOCIATED PROTEIN RAB18; RAB18; 602868 CELL DIVISION CYCLE 5, S. POMBE, HOMOLOG OF; CDC5L; 603137 CULLIN 4A; CUL4A; 603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5; 603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11; 604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7; 605312 GROWTH/DIFFERENTIATION FACTOR 15; GDF15; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME; 608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3; 608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME

October 27, 2009
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 103740 ALCOHOL DEHYDROGENASE 4; ADH4; 108410 ASPARAGINYL-tRNA SYNTHETASE; NARS; 120420 COLONY-STIMULATING FACTOR 1; CSF1; 138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS; 147400 INCISORS, SHOVEL-SHAPED; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 161561 INTERLEUKIN 12B; IL12B; 182360 ATPase, H+/K+ TRANSPORTING, NONGASTRIC, ALPHA POLYPEPTIDE; ATP12A; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300292 FORKHEAD BOX P3; FOXP3; 300303 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 6; RPS6KA6; 300624 FRAGILE X MENTAL RETARDATION SYNDROME; 300768 CYLICIN 1; CYLC1; 600791 ENLARGED VESTIBULAR AQUEDUCT; EVA; 601093 FORKHEAD BOX I1; FOXI1; 601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1; 602206 RAS-ASSOCIATED PROTEIN RAB17; RAB17; 602207 RAS-ASSOCIATED PROTEIN RAB18; RAB18; 602218 SAL-LIKE 1; SALL1; 602533 ONCOGENE DJ1; 602655 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN;; 602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14; 603727 GLUTAMINYL-tRNA SYNTHETASE; QARS; 604095 ECTODYSPLASIN A RECEPTOR; EDAR; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7; 606417 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 2; BRWD2; 606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; 607403 INTERLEUKIN 29; IL29; 607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; Clinical Synopsis for 103050 ADENYLOSUCCINASE DEFICIENCY; Clinical Synopsis for 119915 CLUSTER HEADACHE, FAMILIAL; Clinical Synopsis for 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL; Clinical Synopsis for 605361 SPINOCEREBELLAR ATAXIA 14; SCA14; Clinical Synopsis for 611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M

October 26, 2009
New Entries:: 300805 ANTISENSE FMR1 GENE; 613103 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 4; SRRM4; 613104 CHROMOSOME 9 OPEN READING FRAME 7; C9ORF7
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107776 AQUAPORIN 1; AQP1; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 164017 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRNPA1; 164280 FEINGOLD SYNDROME; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;; 176390 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1; PSG1; 176392 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 3; PSG3; 179610 EPHRIN RECEPTOR EphA1; EPHA1; 191164 EPHRIN A1; EFNA1; 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3; 262700 PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4; 265380 ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS;; 277300 SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1; 312030 REMOVED FROM DATABASE; 600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14; 600354 SURVIVAL OF MOTOR NEURON 1; SMN1; 600410 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 6; TNFAIP6; 600483 FIBROBLAST GROWTH FACTOR 8; FGF8; 601089 FORKHEAD BOX F1; FOXF1; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601132 KINASE SUPPRESSOR OF RAS 1; KSR1; 601381 EPHRIN A3; EFNA3; 601535 EPHRIN A5; EFNA5; 601627 SURVIVAL OF MOTOR NEURON 2; SMN2; 602041 NK3 HOMEOBOX 1; NKX3-1; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602146 LIM HOMEOBOX GENE 4; LHX4; 602402 FORKHEAD BOX C2; FOXC2; 602559 EXPORTIN 1; XPO1; 603252 FORKHEAD BOX L1; FOXL1; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1; 605048 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 605615 ARIADNE, DROSOPHILA, HOMOLOG OF, 2; ARIH2; 606524 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2; SRGAP2; 607902 RNA, U TRANSPORTER 1; RNUT1; 608358 MYOPATHY, MYOSIN STORAGE; 608851 EXORIBONUCLEASE 2; XRN2; 611253 KINESIN FAMILY MEMBER 27; KIF27; 611254 KINESIN FAMILY MEMBER 7; KIF7; 613081 LYSINE-SPECIFIC DEMETHYLASE 1B; KDM1B; Clinical Synopsis for 611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M

October 24, 2009
Changed Entries:: 612014 TETRATRICOPEPTIDE REPEAT DOMAIN 21B; TTC21B

October 23, 2009
New Entries:: 613101 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5; 613102 HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1; 116600 CATARACT, POSTERIOR POLAR, 1; CTPP1; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 138800 GOITER, MULTINODULAR 1; MNG1; 171891 PHOSPHODIESTERASE 1B; PDE1B; 176392 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 3; PSG3; 179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1; 278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE; 305670 GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR; 309550 FMR1 GENE; FMR1; 312865 SHORT STATURE HOMEOBOX; SHOX; 600271 DESMOCOLLIN 3; DSC3; 600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB; 601143 DYNACTIN 1; DCTN1; 601241 HISTONE DEACETYLASE 1; HDAC1; 601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1; 601598 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, DELTA; PTPRD; 601665 OBESITY; 601717 SYNTAXIN-BINDING PROTEIN 2; STXBP2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7; 602681 FORKHEAD BOX O3A; FOXO3A; 602689 FASCIN, SEA URCHIN, HOMOLOG OF, 1; FSCN1; 602734 PLASTIN 1; PLS1; 602987 PHOSPHODIESTERASE 1C; PDE1C; 603187 CENTRIN 1; CETN1; 604199 RAS-ASSOCIATED PROTEIN RAB35; RAB35; 604379 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 2; LAH2; 604506 THYROID HORMONE RECEPTOR INTERACTOR 12; TRIP12; 605101 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN; 605164 HISTONE DEACETYLASE 2; HDAC2; 607092 SPHINGOSINE KINASE 2; SPHK2; 607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1; 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; 611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3; 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3; 612139 DEP DOMAIN-CONTAINING PROTEIN 2; DEPDC2; 612678 TRINUCLEOTIDE REPEAT-CONTAINING GENE 4; TNRC4; Clinical Synopsis for 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE

October 22, 2009
New Entries:: 613100 GLAUCOMA 1, OPEN ANGLE, O; GLC1O
Changed Entries:: 116952 CELL DIVISION CYCLE 42; CDC42; 118450 ALAGILLE SYNDROME 1; ALGS1; 123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 152200 APOLIPOPROTEIN(a); LPA; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 162662 NEUROTROPHIN 4; NTF4; 164210 HEMIFACIAL MICROSOMIA; HFM; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 226300 ENTEROPATHY, PROTEIN-LOSING; 259440 OSTEOGENESIS IMPERFECTA, TYPE IX; 400044 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 480000 SEX-DETERMINING REGION Y; SRY; 600041 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 2; P2RY2; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2; 601620 T-BOX 5; TBX5; 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2; 601920 JAGGED 1; JAG1; 602183 BAGPIPE HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1; 603180 EXPORTIN, tRNA; XPOT; 604509 INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9; 606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2; 608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2; 612259 INFLAMMATORY BOWEL DISEASE 16; IBD16; 613098 INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC; 613099 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

October 21, 2009
New Entries:: 613098 ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC; 613099 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5
Changed Entries:: 100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1; 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1; 102720 DIPEPTIDYL PEPTIDASE IV; DPP4; 104150 ALPHA-FETOPROTEIN; AFP; 123920 CYTIDINE DEAMINASE; CDA; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 138470 COMPLEMENT FACTOR B; CFB; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1; HNFJ1; 167030 NEPHROLITHIASIS, CALCIUM OXALATE; 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1; 176946 EPHRIN RECEPTOR EphA2; EPHA2; 180202 LYSINE-SPECIFIC DEMETHYLASE 5A; KDM5A; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 190685 DOWN SYNDROME; 191845 UROMODULIN; UMOD; 193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1; 600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS; 600570 CHLORIDE CHANNEL 2; CLCN2; 601021 NUCLEOPORIN, 98-KD; NUP98; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601200 PLEUROPULMONARY BLASTOMA; PPB; 603063 3-@HYDROXYBUTYRATE DEHYDROGENASE 1; BDH1; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 605284 TSC1 GENE; TSC1; 605608 CLAUDIN 14; CLDN14; 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM; 611606 MICRO RNA 96; MIRN96; 612918 CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL; 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY; 612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2

October 20, 2009
New Entries:: 613097 TOOTH AGENESIS, SELECTIVE, 6; STHAG6
Changed Entries:: 103780 ALCOHOL DEPENDENCE; 106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 155601 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2; 157145 MICROSEMINOPROTEIN, BETA; MSMB; 162900 NEVUS, EPIDERMAL; 164015 MATRIN 3; MATR3; 184430 SRY-BOX 4; SOX4; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 209900 BARDET-BIEDL SYNDROME; BBS; 259500 OSTEOGENIC SARCOMA; 300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 600502 IMMUNOGLOBULIN MU-BINDING PROTEIN 2; IGHMBP2; 601007 LEPTIN RECEPTOR; LEPR; 602090 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3; 603470 ARGININOSUCCINATE SYNTHETASE 1; ASS1; 603495 AURORA KINASE C; AURKC; 604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1; 604490 SACSIN; SACS; 606070 MYOPATHY, DISTAL 2; MPD2; 606933 TYROSINASE; TYR; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; Clinical Synopsis for 606070 MYOPATHY, DISTAL 2; MPD2

October 19, 2009
New Entries:: 300804 JOUBERT SYNDROME 10; JBTS10; 613094 MICROPHTHALMIA, ISOLATED 4; MCOP4
Changed Entries:: 122600 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL DOMINANT; SCOD4; 179555 RAS SUPPRESSOR PROTEIN 1; RSU1; 182131 5-@HYDROXYTRYPTAMINE RECEPTOR 1B; HTR1B; 182137 5-@HYDROXYTRYPTAMINE RECEPTOR 7; HTR7; 213300 JOUBERT SYNDROME; JBTS; 251600 MICROPHTHALMIA, ISOLATED 1; MCOP1; 263510 SHORT RIB-POLYDACTYLY SYNDROME, TYPE III; 300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5; 300804 JOUBERT SYNDROME 10; JBTS10; 601147 GROWTH/DIFFERENTIATION FACTOR 6; GDF6; 601272 SORTING NEXIN 1; SNX1; 601665 OBESITY; 602576 LUNATIC FRINGE; LFNG; 602768 DELTA-LIKE 3; DLL3; 603297 DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1; 605195 MESODERM POSTERIOR 2; MESP2; 605929 SORTING NEXIN 2; SNX2; 605930 SORTING NEXIN 3; SNX3; 605931 SORTING NEXIN 4; SNX4; 605937 SORTING NEXIN 5; SNX5; 605963 SORTING NEXIN 17; SNX17; 605964 SORTING NEXIN 15; SNX15; 606098 SORTING NEXIN 6; SNX6; 608681 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2; 609813 SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3; 610112 C-MAF-INDUCING PROTEIN; 611408 LCA5 GENE; LCA5; 612401 OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6; 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14

October 18, 2009
New Entries:: 613091 ASPHYXIATING THORACIC DYSTROPHY 3; ATD3
Changed Entries:: 603297 DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1

October 16, 2009
New Entries:: 613077 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 613092 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2; HNFJ2; 613093 CONE DYSTROPHY 4; COD4; 613095 POLYCYSTIC KIDNEY DISEASE 2; PKD2
Changed Entries:: 103320 AGRIN; AGRN; 136760 FRONTONASAL DYSPLASIA; 137215 GASTRIC CANCER; 148300 KERATOCONUS 1; KTCN1; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 161550 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2; 162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1; HNFJ1; 163950 NOONAN SYNDROME 1; NS1; 167409 PAIRED BOX GENE 2; PAX2; 173900 POLYCYSTIC KIDNEYS; 173910 PKD2 GENE; PKD2; 174050 POLYCYSTIC LIVER DISEASE; PCLD; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 177060 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH; 179820 RENIN; REN; 191845 UROMODULIN; UMOD; 192090 CADHERIN 1; CDH1; 194070 WILMS TUMOR 1; WT1; 194071 WILMS TUMOR 2; WT2; 194090 WILMS TUMOR 3; WT3; 208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1; 217070 COMPLEMENT COMPONENT 7; C7; 241200 BARTTER SYNDROME, ANTENATAL, TYPE 2; 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL; 304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1; 600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3; 600827 PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA-PRIME; PDE6C; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601363 WILMS TUMOR 4; 601583 WILMS TUMOR 5; WT5; 602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB; 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA; 602168 VACCINIA-RELATED KINASE 1; VRK1; 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;; 602522 BARTTER SYNDROME, TYPE 4A; 603381 FILAMIN B; FLNB; 603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1; 603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2; 604532 POLYCYSTIN 2-LIKE 1; PKD2L1; 604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B; 606014 ARISTALESS-LIKE HOMEOBOX 3; ALX3; 606255 STATURE AS A QUANTITATIVE TRAIT; 606412 BSND GENE; 606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1; 607107 NASOPHARYNGEAL CARCINOMA; 607596 PONTOCEREBELLAR HYPOPLASIA TYPE 1; 607697 SET-BINDING FACTOR 2; SBF2; 608581 RP1-LIKE PROTEIN 1; RP1L1; 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR; 609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA; 612595 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3; 613082 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 2; ATP2C2; 613090 BARTTER SYNDROME, TYPE 4B

October 15, 2009
New Entries:: 613087 ATRIAL SEPTAL DEFECT 6; ASD6; 613088 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2; 613089 CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF; 613090 BARRTER SYNDROME, TYPE 4B
Changed Entries:: 108800 ATRIAL SEPTAL DEFECT 1; ASD1; 123050 CRANIORHINY; 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; 145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 164745 OMODYSPLASIA 2; OMOD2; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 176780 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO; 176803 PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS; 184745 KIT LIGAND; KITLG; 194510 ZINC FINGER PROTEIN 3; ZNF3; 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME; 249700 LANGER MESOMELIC DYSPLASIA; 251455 MOVED TO 258315; 258315 OMODYSPLASIA 1; OMOD1; 273750 THREE M SYNDROME 1; 3M1; 275000 GRAVES DISEASE; 600074 CD24 ANTIGEN; CD24; 600807 ASTHMA, SUSCEPTIBILITY TO; 600977 CONE-ROD DYSTROPHY 5; CORD5; 601527 ARISTALESS-LIKE HOMEOBOX 1; ALX1; 601678 BARTTER SYNDROME, ANTENATAL, TYPE 1; 601987 CARNITINE PALMITOYLTRANSFERASE I, MUSCLE; CPT1B; 602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB; 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA; 602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; BSND; 602713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9; 603502 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 1; IFRD1; 604404 GLYPICAN 6; GPC6; 605000 CORONIN 1A; CORO1A; 605002 CORONIN 2B; CORO2B; 605823 POPEYE DOMAIN-CONTAINING PROTEIN 2; POPDC2; 605824 POPEYE DOMAIN-CONTAINING PROTEIN 3; POPDC3; 606412 BSND GENE; 606742 TOLLOID-LIKE 1; TLL1; 606852 PARKINSON DISEASE 10; PARK10; 606904 MOVED TO 254770; 607364 BARTTER SYNDROME, TYPE 3; 607402 INTERLEUKIN 28B; IL28B; 607458 SPINOCEREBELLAR ATAXIA 18; SCA18; 608921 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3; 609132 LYSINE-SPECIFIC DEMETHYLASE 1A; KDM1A; 609297 SEMAPHORIN 5A; SEMA5A; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 609577 CULLIN 7; CUL7; 611218 GASDERMIN A; GSDMA; 611455 KINOCILIN; KNCN; 611461 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 17;; 611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2; 611475 RNA POLYMERASE II-ASSOCIATED PROTEIN 1; RPAP1; 611476 RNA POLYMERASE II-ASSOCIATED PROTEIN 2; RPAP2; 611477 RNA POLYMERASE II-ASSOCIATED PROTEIN 3; RPAP3; 611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE; 611479 XPA-BINDING PROTEIN 1; XAB1; 611480 PIH1 DOMAIN-CONTAINING PROTEIN 1; PIH1D1; 611481 UFM1-SPECIFIC PEPTIDASE 1; UFSP1; 611482 UFM1-SPECIFIC PEPTIDASE 2; UFSP2; 611516 NICOLIN 1; NICN1; 611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11; 611518 DEDICATOR OF CYTOKINESIS 10; DOCK10; 611520 POLYMERASE DELTA-INTERACTING PROTEIN 3; POLDIP3; 611525 POLYMERASE (DNA-DIRECTED), DELTA 4; POLD4; 611527 Na+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 1; NHEDC1; 611530 NEUROLYSIN; NLN; 611668 CORONIN 7; CORO7; 611869 RAB GTPase-BINDING EFFECTOR PROTEIN 2; RABEP2; 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3; 611949 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING 2; MBOAT2; 612102 MICRO RNA LET7G; MIRNLET7G; 612168 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 3; SLC39A3; 612393 WAS PROTEIN HOMOLOGY REGION 2 DOMAIN-CONTAINING PROTEIN 1; WHDC1; 612395 CHOLINE KINASE, BETA; CHKB; 612486 DACHSOUS, DROSOPHILA, HOMOLOG OF, 2; DCHS2; 612501 UBIQUITIN-CONJUGATING ENZYME E2Q 2; UBE2Q2; 612775 CONE-ROD DYSTROPHY 9; CORD9; 612967 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15; BMIQ15; 613035 HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO; NIHL; 613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL; 613067 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2; 613069 PHD FINGER PROTEIN 10; PHF10; 613072 LIPOXYGENASE HOMOLOGY DOMAINS-CONTAINING 1; LOXHD1; 613079 DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77; 613080 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED; 613081 LYSINE-SPECIFIC DEMETHYLASE 1B; KDM1B; 613082 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 2; ATP2C2; 613083 RING FINGER PROTEIN 160; RNF160; 613084 MYELIN TRANSCRIPTION FACTOR 1-LIKE; MYT1L; Clinical Synopsis for 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; Clinical Synopsis for 251455 MOVED TO 258315; Clinical Synopsis for 606904 MOVED TO 254770; Clinical Synopsis for 607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9

October 14, 2009
New Entries:: 613035 HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO; 613085 GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C; 613086 GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D
Changed Entries:: 107670 APOLIPOPROTEIN A-II; APOA2; 114500 COLORECTAL CANCER; CRC; 118493 CHOLINERGIC RECEPTOR, MUSCARINIC, 2; CHRM2; 139605 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 140559 HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L; 140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA; 181500 SCHIZOPHRENIA; SCZD; 187950 THROMBOCYTHEMIA, ESSENTIAL; 191030 TROPOMYOSIN 3; TPM3; 193060 VIMENTIN; VIM; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 254450 MYELOFIBROSIS; 255160 MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE; 255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD; 275000 GRAVES DISEASE; 516002 COMPLEX I, SUBUNIT ND3; MTND3; 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600379 MYELIN TRANSCRIPTION FACTOR 1; MYT1; 600897 GAP JUNCTION PROTEIN, ALPHA-8; GJA8; 600975 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B; 601626 LEUKEMIA, ACUTE MYELOID; AML; 602091 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2; 602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9; 603383 GLAUCOMA 1, OPEN ANGLE, F; GLC1F; 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF; 603825 HYPERMETHYLATED IN CANCER 1; HIC1; 604061 SEPTIN 9; SEPT9; 604219 CATARACT, AUTOSOMAL DOMINANT; 607139 FANCA GENE; FANCA; 607461 DYMECLIN; DYM; 607712 HYPERMETHYLATED IN CANCER 2; HIC2; 608111 PHD FINGER PROTEIN 9; PHF9; 608384 GASDERMIN C; GSDMC; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 609284 NEMALINE MYOPATHY 1; NEM1; 610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1; 611218 GASDERMIN A; GSDMA; 611364 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4; 611481 UFM1-SPECIFIC PEPTIDASE 1; UFSP1; 611482 UFM1-SPECIFIC PEPTIDASE 2; UFSP2; 612397 DUAL INTRACELLULAR VON WILLEBRAND FACTOR DOMAIN A-CONTAINING PROTEIN; 612990 ADDITIONAL SEX COMBS-LIKE 1; ASXL1; 613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL; 613078 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD; 613079 DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77; 613084 MYELIN TRANSCRIPTION FACTOR 1-LIKE; MYT1L; 613085 GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C

October 13, 2009
New Entries:: 613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL; 613067 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2; 613072 LIPOXYGENASE HOMOLOGY DOMAINS-CONTAINING 1; LOXHD1; 613079 DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77; 613080 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED; 613081 LYSINE-SPECIFIC DEMETHYLASE 1B; KDM1B; 613082 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 2; ATP2C2; 613083 RING FINGER PROTEIN 160; RNF160; 613084 MYELIN TRANSCRIPTION FACTOR 1-LIKE; MYT1L
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107253 REMOVED FROM DATABASE; 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1; 123450 CRI-DU-CHAT SYNDROME; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 147141 TRANSCRIPTION FACTOR 3; TCF3; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE; MLL; 161550 NASOPHARYNGEAL CARCINOMA; 164343 EARLY B-CELL FACTOR; EBF; 167414 PAIRED BOX GENE 5; PAX5; 186921 LIM DOMAIN ONLY 1; LMO1; 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1; 300801 CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME; 300802 MENTAL RETARDATION, X-LINKED, SYP-RELATED; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 600791 ENLARGED VESTIBULAR AQUEDUCT; EVA; 601093 FORKHEAD BOX I1; FOXI1; 601478 MYOSIN IA; MYO1A; 602208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 10; KCNJ10; 602770 CHROMOBOX HOMOLOG 2, DROSOPHILA POLYCOMB CLASS; CBX2; 603023 IKAROS FAMILY ZINC FINGER 1; IKZF1; 603165 DERMATITIS, ATOPIC; 603368 CYCLIN-DEPENDENT KINASE 6; CDK6; 603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 605776 FIBRINOGEN-LIKE 1; FGL1; 605966 HEPATOCYTE NUCLEAR FACTOR 4-GAMMA; HNF4G; 606221 IKAROS FAMILY ZINC FINGER 3; IKZF3; 607426 COENZYME Q10 DEFICIENCY; 607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR; 608384 GASDERMIN C; GSDMC; 608538 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5B; ARID5B; 608649 ICHTHYOSIS PREMATURITY SYNDROME; IPS; 608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR; 609132 LYSINE-SPECIFIC DEMETHYLASE 1A; KDM1A; 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS; 610219 DFNB59 GENE; 610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59; 610222 RAS AND RAB INTERACTOR 2; RIN2; 611218 GASDERMIN A; GSDMA; 611221 GASDERMIN B; GSDMB; 612075 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH; 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2; 613064 DERMATITIS, ATOPIC, 7; ATOD7; 613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL; 613068 NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; 613070 LIVER FAILURE, ACUTE INFANTILE; 613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3; 613072 LIPOXYGENASE HOMOLOGY DOMAINS-CONTAINING 1; LOXHD1; 613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2; 613074 DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50; 613075 MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS; 613076 MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING; 613078 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD; Clinical Synopsis for 213300 JOUBERT SYNDROME; JBTS; Clinical Synopsis for 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; Clinical Synopsis for 604403 FEBRILE CONVULSIONS, FAMILIAL, 3A; FEB3A; Clinical Synopsis for 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; Clinical Synopsis for 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS

October 12, 2009
New Entries:: 613078 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD; Clinical Synopsis for 602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3
Changed Entries:: 102620 ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2; 113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS; 121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1; 137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2; 139320 GNAS COMPLEX LOCUS; GNAS; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 179035 PYRROLINE-5-CARBOXYLATE REDUCTASE 1; PYCR1; 180500 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 186591 SYNTAXIN 4A; STX4A; 213300 JOUBERT SYNDROME; JBTS; 219700 CYSTIC FIBROSIS; CF; 220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT; 231070 GERODERMA OSTEODYSPLASTICUM; GO; 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM, AUTOSOMAL; 278250 WRINKLY SKIN SYNDROME; WSS; 300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX; 309645 MOVED TO 602111; 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B; 601090 FORKHEAD BOX C1; FOXC1; 601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1; 602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; 602775 SUPPRESSOR OF CLEAR, C. ELEGANS, HOMOLOG OF; SHOC2; 602884 GDP-MANNOSE 4,6-DEHYDRATASE; GMDS; 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50; 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+; 604403 FEBRILE CONVULSIONS, FAMILIAL, 3A; FEB3A; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; 607298 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-13; GNG13; 607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL; 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS; 611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6; 612073 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH; 612582 CHROMOSOME 6pter-p24 DELETION SYNDROME; 612671 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 3; UAQTL4; 612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B; 613037 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E; Clinical Synopsis for 309645 MOVED TO 602111; Clinical Synopsis for 600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS

October 9, 2009
New Entries:: 613068 NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; 613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2; 613076 MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING
Changed Entries:: 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 136430 FOLATE RECEPTOR 1, ADULT; FOLR1; 186591 SYNTAXIN 4A; STX4A; 300053 VESICLE-ASSOCIATED MEMBRANE PROTEIN 7: VAMP7; 300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1; 300256 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10; 300438 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY; 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA; 300802 MENTAL RETARDATION, X-LINKED, SYP-RELATED; 309645 MOVED TO 602111; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1; 600108 MATRIX METALLOPROTEINASE 13; MMP13; 600876 SYNTAXIN 3A; STX3A; 600924 GROWTH FACTOR, ERV1-LIKE; GFER; 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE; 602534 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 23-KD; SNAP23; 603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 605185 DELTA-LIKE 4; DLL4; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 606416 NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3; 607426 COENZYME Q10 DEFICIENCY; 609811 CYTOCHROME C OXIDASE SUBUNIT VIIb2; COX7B2; 609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2; 610222 RAS AND RAB INTERACTOR 2; RIN2; 611963 ACYL-CoA THIOESTERASE 7-LIKE; 612542 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1; 612837 COQ9, S. CEREVISIAE, HOMOLOG OF; COQ9; 613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2; 613075 MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS; 613076 MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING; Clinical Synopsis for 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

October 8, 2009
New Entries:: 300801 CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME; 613064 DERMATITIS, ATOPIC, 7; ATOD7; 613070 LIVER FAILURE, ACUTE INFANTILE; 613074 DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50; 613075 MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS
Changed Entries:: 114480 BREAST CANCER; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 135940 FILAGGRIN; FLG; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3; 400010 DEAD/H BOX 3, Y-LINKED; DDX3Y; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 602769 DNA METHYLTRANSFERASE 3A; DNMT3A; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 603165 DERMATITIS, ATOPIC; 603242 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER B; CLEC2B; 603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2; 603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4; 604194 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4; 605029 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY F, MEMBER 1; KLRF1; 605803 DERMATITIS, ATOPIC, 2; ATOD2; 605805 DERMATITIS, ATOPIC, 4; ATOD4; 605844 DERMATITIS, ATOPIC, 5; ATOD5; 605845 DERMATITIS, ATOPIC, 6; ATOD6; 608649 ICHTHYOSIS PREMATURITY SYNDROME; IPS; 608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1; 608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR; 609676 MITOCHONDRIAL ANTIVIRAL SIGNALING PROTEIN; MAVS; 610222 RAS AND RAB INTERACTOR 2; RIN2; 610230 tRNA 5-METHYLAMINOMETHYL-2-THIOURIDYLATE METHYLTRANSFERASE; TRMU; 611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6; 611606 MICRO RNA 96; MIRN96; 613074 DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50

October 7, 2009
New Entries:: 300802 MENTAL RETARDATION, X-LINKED, SYP-RELATED; 300803 MENTAL RETARDATION, X-LINKED, ZNF711-RELATED; 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2; 613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3
Changed Entries:: 100070 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1; 107253 REMOVED FROM DATABASE; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1; 142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1; 156600 MICROCORIA, CONGENITAL; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1; 219700 CYSTIC FIBROSIS; CF; 221750 PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3; 262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2; 262700 PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4; 264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1; 300231 SOLUTE CARRIER FAMILY 9, MEMBER 6; SLC9A6; 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; 300298 UPF3, YEAST, HOMOLOG OF, B; UPF3B; 300629 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; AP1S2; 300630 MENTAL RETARDATION, X-LINKED 59; MRX59; 300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14; 300798 PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2; 313475 SYNAPTOPHYSIN; SYP; 314990 ZINC FINGER PROTEIN 711; ZNF711; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600131 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1; 600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT; SCNN1A; 600570 CHLORIDE CHANNEL 2; CLCN2; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B; 600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G; 601157 DEFENSIN, ALPHA, 4; DEFA4; 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1; 603097 ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 1;; 603165 DERMATITIS, ATOPIC; 603210 JERKY, MOUSE, HOMOLOG OF; JRK; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 604207 COPINE III; CPNE3; 604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1; 605168 FATTY ACID-BINDING PROTEIN 5; FABP5; 605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1; 605805 DERMATITIS, ATOPIC, 4; ATOD4; 605966 HEPATOCYTE NUCLEAR FACTOR 4-GAMMA; HNF4G; 606396 BRIDGING INTEGRATOR 3; BIN3; 606475 CD320 ANTIGEN; CD320; 606606 MOVED TO 262700; 606904 MOVED TO 254770; 606939 ATPasE, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM; 607013 BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR;; 607628 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11; 607631 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1; 607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9; 608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1; 608946 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 3; 609894 UNC13, C. ELEGANS, HOMOLOG OF, A; UNC13A; 610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1; 610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO; 611221 GASDERMIN B; GSDMB; 612251 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10; 613027 GLYCOGEN STORAGE DISEASE IXc; 613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1; 613057 MICRO RNA 26A2; MIR26A2; 613058 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2; BCC2; 613059 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3; BCC3; 613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10; 613061 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4; BCC4; 613062 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5; BCC5; 613063 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6; BCC6; 613066 PBX/KNOTTED 1 HOMEOBOX 2; PKNOX2; Clinical Synopsis for 275550 TRICHORRHEXIS NODOSA SYNDROME; Clinical Synopsis for 278200 WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS

October 6, 2009
New Entries:: 300799 MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED; 613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10; Clinical Synopsis for 612932 GLYCOGEN STORAGE DISEASE XIII; GSD13
Changed Entries:: 103780 ALCOHOL DEPENDENCE; 105850 ANGIOGENIN; ANG; 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 112266 BONE MORPHOGENETIC PROTEIN 6; BMP6; 123805 PHOSPHODIESTERASE 3A, cGMP-INHIBITED; PDE3A; 131370 ENOLASE 3; ENO3; 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1; 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD; 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2; 138245 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 1; GRIK1; 148900 MOVED TO 118100; 171890 PHOSPHODIESTERASE 1A; PDE1A; 171891 PHOSPHODIESTERASE 1B; PDE1B; 172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 217030 COMPLEMENT FACTOR I; CFI; 252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA; 253200 MUCOPOLYSACCHARIDOSIS TYPE VI; 254770 EPILEPSY, MYOCLONIC JUVENILE; EJM; 272200 MULTIPLE SULFATASE DEFICIENCY; MSD; 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK; 300304 CULLIN 4B; CUL4B; 300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE; 300422 FG SYNDROME 4; FGS4; 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; 300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3; 300646 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9; 300659 MENTAL RETARDATION, X-LINKED 93; MRX93; 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM; 300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; 309550 FMR1 GENE; FMR1; 600131 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1; 600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600570 CHLORIDE CHANNEL 2; CLCN2; 601157 DEFENSIN, ALPHA, 4; DEFA4; 601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4; 602322 TELOMERASE RNA COMPONENT; TERC; 603210 JERKY, MOUSE, HOMOLOG OF; JRK; 604827 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7; 605208 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH; 606437 MOVED TO 121200; 606970 MOVED TO 600669; 607563 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 607628 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11; 607631 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1; 607681 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2; 607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9; 607827 OTOPETRIN 2; 607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H; 608816 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3; EJM3; 611136 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5; EJM5; 611542 ARYLSULFATASE B; ARSB; 611942 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6; 613027 GLYCOGEN STORAGE DISEASE IXc; Clinical Synopsis for 131370 ENOLASE 3; ENO3; Clinical Synopsis for 148900 MOVED TO 118100; Clinical Synopsis for 217030 COMPLEMENT FACTOR I; CFI; Clinical Synopsis for 256000 LEIGH SYNDROME; LS; Clinical Synopsis for 300438 HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY; Clinical Synopsis for 606437 MOVED TO 121200

October 5, 2009
New Entries:: 613069 PHD FINGER PROTEIN 10; PHF10
Changed Entries:: 116700 CATARACT, TOTAL CONGENITAL; CC; 121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1; 136430 FOLATE RECEPTOR 1, ADULT; FOLR1; 137800 GLIOMA SUSCEPTIBILITY 1; GLM1; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 167413 PAIRED BOX GENE 4; PAX4; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC; 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1; 302200 CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES;; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 601285 DELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGION; 601648 PROTEASOME 26S SUBUNIT, NON-ATPase, 4; PSMD4; 601670 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 1; DPF1; 602229 SRY-BOX 10; SOX10; 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2; 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1; 603517 B-CELL CLL/LYMPHOMA 10; BCL10; 604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1; 604958 ACTIN-LIKE 6A; ACTL6A; 605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1; 606437 MOVED TO 121200; 609327 MICRO RNA 124-1; MIR124-1; 610650 ADHESION-REGULATING MOLECULE 1; ADRM1; 611186 MICRO RNA 9-1; MIRN9-1; Clinical Synopsis for 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA

October 4, 2009
Changed Entries:: 167413 PAIRED BOX GENE 4; PAX4; 612092 MICRO RNA 200C; MIR200C

October 2, 2009
New Entries:: 613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1; 613058 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2; BCC2; 613059 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3; BCC3; 613061 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4; BCC4; 613062 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5; BCC5; 613063 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6; BCC6; 613066 PBX/KNOTTED 1 HOMEOBOX 2; PKNOX2; Clinical Synopsis for 613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1
Changed Entries:: 101850 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE III; PPKP3; 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2; 132350 SYNTAXIN 2; STX2; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 148040 KERATIN 5; KRT5; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA; 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA; 182230 SEPTOOPTIC DYSPLASIA; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 194510 ZINC FINGER PROTEIN 3; ZNF3; 221750 PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3; 227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5; 241540 HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS; 254770 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1; EJM1; 262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2; 262700 PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4; 274700 THYROID DYSHORMONOGENESIS 3; TDH3; 274900 THYROID DYSHORMONOGENESIS 5; TDH5; 600011 EPHRIN RECEPTOR EphB4; EPHB4; 600185 BRCA2 GENE; BRCA2; 600577 LIM HOMEOBOX GENE 3; LHX3; 600815 POLYMERASE (DNA-DIRECTED), DELTA 2, REGULATORY SUBUNIT; POLD2; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601540 BROMODOMAIN-CONTAINING PROTEIN 2; BRD2; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 601802 HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1; 602146 LIM HOMEOBOX GENE 4; LHX4; 602719 SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10; 602955 TAF6 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 603125 TYROSYLPROTEIN SULFOTRANSFERASE 1; TPST1; 603531 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-1 SUBUNIT; AP1S1; 604070 DIACYLGLYCEROL KINASE, BETA, 90-KD; DGKB; 604280 PLEXIN A4; PLXNA4; 604911 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 4; CNOT4; 605021 MYOCLONIC EPILEPSY, INFANTILE; 605081 CYTOHESIN 3; CYTH3; 605326 TAX1-BINDING PROTEIN 1; TAX1BP1; 605351 FIBRINOGEN-LIKE 2; FGL2; 605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1; 605485 VACUOLAR PROTEIN SORTING 41, YEAST, HOMOLOG OF; VPS41; 605502 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 2; DNAJC2; 605547 FOLLISTATIN-LIKE 1; FSTL1; 605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1; 605790 SERINE/THREONINE KINASE 31; STK31; 606113 PROCESSING OF PRECURSOR 7, S. CEREVISIAE, HOMOLOG OF; POP7; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 606420 ENGULFMENT AND CELL MOTILITY GENE 1; ELMO1; 606970 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1; EIG1; 607075 PDGFA-ASSOCIATED PROTEIN 1; PDAP1; 607285 LSM5 PROTEIN; LSM5; 607681 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; 607696 USH1G GENE; USH1G; 607707 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-BETA; CAMK2B; 607723 UNC84, C. ELEGANS, HOMOLOG OF, A; UNC84A; 607928 WHIRLIN; WHRN; 608001 MELANOMA INHIBITORY ACTIVITY PROTEIN 2; MIA2; 608089 ENDOMETRIAL CANCER; 608815 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING 1; EFHC1; 608816 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3; 611364 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4; 612269 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5; 613026 CHROMOSOME 19q13.11 DELETION SYNDROME; 613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1; 613040 COILED-COIL DOMAIN-CONTAINING PROTEIN 26; CCDC26; 613041 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A1; FAM90A1; 613042 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A3; FAM90A3; 613043 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A5; FAM90A5; 613044 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A7; FAM90A7; 613045 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A8; FAM90A8; 613046 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A9; FAM90A9; 613047 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A10; FAM90A10; 613048 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A12; FAM90A12; 613049 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A13; FAM90A13; 613050 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A14; FAM90A14; 613051 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A15; FAM90A15; 613052 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A18; FAM90A18; 613053 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A19; FAM90A19; 613054 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A20; FAM90A20; 613055 ATRIAL FIBRILLATION, FAMILIAL, 8; ATFB8; 613056 LUC7, S. CEREVISIAE, HOMOLOG OF, 2; LUC7L2; Clinical Synopsis for 162830 NEUTROPHILIA, HEREDITARY; Clinical Synopsis for 221750 PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3; Clinical Synopsis for 262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2; Clinical Synopsis for 262700 PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4; Clinical Synopsis for 607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3; Clinical Synopsis for 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; Clinical Synopsis for 613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

October 1, 2009
New Entries:: 300798 PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2; 613027 GLYCOGEN STORAGE DISEASE IXc; 613057 MICRO RNA 26A2; MIR26A2
Changed Entries:: 109400 BASAL CELL NEVUS SYNDROME; BCNS; 119530 OROFACIAL CLEFT 1; OFC1; 132350 SYNTAXIN 2; STX2; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2; 172490 PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB; 179615 RECOMBINATION-ACTIVATING GENE 1; RAG1; 182115 CYTOHESIN 1; CYTH1; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1; 218600 BALLER-GEROLD SYNDROME; BGS; 219700 CYSTIC FIBROSIS; CF; 232700 GLYCOGEN STORAGE DISEASE VI; 261750 GLYCOGEN STORAGE DISEASE IXb; 266280 RAPADILINO SYNDROME; 268300 ROBERTS SYNDROME; RBS; 269000 SC PHOCOMELIA SYNDROME; 300559 GLYCOGEN STORAGE DISEASE, TYPE IXd; 306000 GLYCOGEN STORAGE DISEASE IXa1; 600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A; 601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7; 602089 HEMANGIOMA, CAPILLARY INFANTILE; 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION; 602488 CYTOHESIN 2; CYTH2; 603780 RECQ PROTEIN-LIKE 4; RECQL4; 604448 CYTOHESIN 1-INTERACTING PROTEIN; CYTIP; 605029 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY F, MEMBER 1; KLRF1; 605081 CYTOHESIN 3; CYTH3; 605502 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 2; DNAJC2; 606475 CD320 ANTIGEN; CD320; 606514 CYTOHESIN 4; CYTH4; 606800 GLUCOSIDASE, ALPHA, ACID; GAA; 607270 KIAA0442; 607688 PARKINSON DISEASE 11; PARK11; 608095 SODIUM CHANNEL MODIFIER 1; SCNM1; 609353 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2; ESCO2; 611221 GASDERMIN B; GSDMB; 612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2; 613056 LUC7, S. CEREVISIAE, HOMOLOG OF, 2; LUC7L2

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OMIM Update List for October, 2009

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