OMIM Update List for July, 2008

PubMed

Nucleotide

Protein

Genome

OMIM Update List for July, 2008

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July 31, 2008
New Entries:: 612211 TUMOR SUPPRESSOR CANDIDATE 5; TUSC5; 612212 PLASMINOGEN-LIKE A; PLGLA; 612213 BOVINE SEMINAL PLASMA PROTEIN-LIKE 1; 612214 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 4; RGL4; 612215 SMALL NUCLEOLAR RNA HOST GENE 6; SNHG6; 612216 SMALL NUCLEOLAR RNA, C/D BOX, 87; SNORD87; 612217 CHROMOSOME 6 OPEN READING FRAME 106; C6ORF106; 612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38
Changed Entries:: 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 173340 PLASMINOGEN-LIKE B1; PLGLB1; 173350 PLASMINOGEN; PLG; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 603296 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1-INTERACTING PROTEIN 1; MAP2K1IP1; 606259 BREAST CANCER METASTASIS SUPPRESSOR 1; BRMS1; 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML; 612169 Fc FRAGMENT OF IgG, LOW AFFINITY IIc, RECEPTOR FOR; FCGR2C; 612216 SMALL NUCLEOLAR RNA, C/D BOX, 87; SNORD87; 612217 CHROMOSOME 6 OPEN READING FRAME 106; C6ORF106

July 30, 2008
New Entries:: 610085 FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A; 612203 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 5; NAP1L5; 612204 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, A; ATG9A; 612205 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, B; ATG9B; 612206 FOUR JOINTED BOX, DROSOPHILA, HOMOLOG OF, 1; FJX1; 612207 GOLGI PHOSPHOPROTEIN 3; GOLPH3; 612208 GOLGI PHOSPHOPROTEIN 3-LIKE; GOLPH3L; 612209 MESOGENIN 1; MSGN1; 612210 HIGHLY UPREGULATED IN LIVER CANCER; HULC
Changed Entries:: 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5; 132811 EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 219700 CYSTIC FIBROSIS; CF; 306700 HEMOPHILIA A; 604845 PROSTATE CANCER ANTIGEN 3; PCA3; 605900 PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1; 605904 ENIGMA-LIKE LIM DOMAIN PROTEIN; 605906 LIM DOMAIN-BINDING 3; LDB3; 606087 DESMUSLIN; DMN; 606131 RING FINGER PROTEIN 28; RNF28; 606474 RING FINGER PROTEIN 30; RNF30; 607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M; 608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD; 608231 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 8; RASSF8; 608286 PROTOCADHERIN 10; PCDH10; 608517 MYOPALLADIN; MYPN; 608616 OBSCURIN; OBSCN; 608810 ALPHA-B CRYSTALLINOPATHY; 609200 MYOTILINOPATHY; 609524 FILAMINOPATHY, AUTOSOMAL DOMINANT; 610085 FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A; 610734 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; ANKRD2; 610735 MYOZENIN 3; MYOZ3

July 29, 2008
New Entries:: 612200 CHROMOSOME 3 OPEN READING FRAME 58; C3ORF58; 612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6; 612202 SRY-BOX 7; SOX7
Changed Entries:: 108780 NATRIURETIC PEPTIDE PRECURSOR A; NPPA; 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1; 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5; 126450 DOPAMINE RECEPTOR D2; DRD2; 138945 GRANULIN; GRN; 220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1; 254500 MYELOMA, MULTIPLE; 601653 EYES ABSENT 1; EYA1; 602459 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15; 602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3; 602783 PARAPLEGIN; SPG7; 604493 GAP JUNCTION PROTEIN, BETA-5; GJB5; 605060 SEDOHEPTULOKINASE; SHPK; 606272 CYSTINOSIN; CTNS; 607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 608396 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), ISOFORM A9; SLC9A9; 608554 NEURONAL PAS DOMAIN PROTEIN 4; NPAS4; 608581 RP1-LIKE PROTEIN 1; RP1L1; 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1; 610928 SRY-BOX 17; SOX17

July 28, 2008
Changed Entries:: 136533 FORKHEAD BOX O1A; FOXO1A; 147620 INTERLEUKIN 6; IL6; 147670 INSULIN RECEPTOR; INSR; 147880 INTERLEUKIN 6 RECEPTOR; IL6R; 158373 MUCIN 5, SUBTYPES A AND C, TRACHEOBRONCHIAL; MUC5AC; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 168461 CYCLIN D1; CCND1; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 600770 MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL; MUC5B; 602128 GROWTH ARREST-SPECIFIC 2-LIKE 1; GAS2L1; 603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1; 603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2;; 604609 MUCIN 12; MUC12; 605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 605518 LIPIN 1; LPIN1; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 608424 MUCIN 17; MUC17; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 610360 MUCIN 20, CELL SURFACE-ASSOCIATED; MUC20; 610846 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 10; LRRC10; 611051 COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50; 611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9; 611258 TUDOR DOMAIN-CONTAINING 7; TDRD7; 611398 GROWTH ARREST-SPECIFIC 2-LIKE 2; GAS2L2; 611404 CHROMOSOME 6 OPEN READING FRAME 21; C6ORF21; 611540 SH3-DOMAIN GRB2-LIKE (ENDOPHILIN)-INTERACTING PROTEIN 1; SGIP1; 611753 TRANSMEMBRANE PROTEIN 49; TMEM49

July 25, 2008
New Entries:: 612195 ABHYDROLASE DOMAIN-CONTAINING 1; ABHD1
Changed Entries:: 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN; 109760 5-@HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A; 115310 PARAGANGLIOMAS 4; PGL4; 120970 CONE-ROD DYSTROPHY 2; CORD2; 125240 CD55 ANTIGEN; CD55; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 126452 DOPAMINE RECEPTOR D4; DRD4; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 147620 INTERLEUKIN 6; IL6; 158340 MUCIN 1, TRANSMEMBRANE; MUC1; 158370 MUCIN 2, INTESTINAL; MUC2; 158372 MUCIN 4, TRACHEOBRONCHIAL; MUC4; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 166950 TERATOMA, OVARIAN; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 180250 RETINOL-BINDING PROTEIN 4; RBP4; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 272120 SUDDEN INFANT DEATH SYNDROME; 601478 MYOSIN IA; MYO1A; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15; 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5; 605204 TORSIN-A; DYT1; 605803 DERMATITIS, ATOPIC, 2; ATOD2; 606100 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 2; EMR2; 606101 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 3; EMR3; 606395 PROLACTIN REGULATORY ELEMENT-BINDING PROTEIN; PREB; 606441 HTRA SERINE PEPTIDASE 2; HTRA2; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6; 609778 CARDIOMYOPATHY-ASSOCIATED PROTEIN 3; CMYA3; 612195 ABHYDROLASE DOMAIN-CONTAINING 1; ABHD1

July 24, 2008
New Entries:: 612196 ABHYDROLASE DOMAIN-CONTAINING 2; ABHD2; 612197 ABHYDROLASE DOMAIN-CONTAINING 3; ABHD3
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 126450 DOPAMINE RECEPTOR D2; DRD2; 126452 DOPAMINE RECEPTOR D4; DRD4; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 601060 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 2; ENPP2; 601663 ESTROGEN RECEPTOR 2; ESR2; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31; 607218 INTERFERON REGULATORY FACTOR 5; IRF5; 608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC; 609012 WD REPEAT-CONTAINING PROTEIN 5; WDR5

July 23, 2008
New Entries:: 300725 RAS-RELATED GTP-BINDING PROTEIN B; RRAGB; 612193 CARDIOMYOPATHY-ASSOCIATED PROTEIN 5; CMYA5; 612194 RAS-RELATED GTP-BINDING PROTEIN A; RRAGA
Changed Entries:: 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 147390 INHIBIN, BETA B; INHBB; 150370 LAMININ RECEPTOR 1; LAMR1; 164160 LEPTIN; LEP; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 300725 RAS-RELATED GTP-BINDING PROTEIN B; RRAGB; 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER; 600374 BBS4 GENE; BBS4; 600536 INTEGRIN, ALPHA-7; ITGA7; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 603108 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 1; MAPRE1; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 604657 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 5; TM4SF5; 604896 MKKS GENE; MKKS; 604970 AURORA KINASE B; AURKB; 606151 BBS2 GENE; BBS2; 606522 GROWTH/DIFFERENTIATION FACTOR 3; GDF3; 607130 REGULATORY ASSOCIATED PROTEIN OF MTOR; 607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1; 608267 RAS-RELATED GTP-BINDING PROTEIN C; RRAGC; 608268 RAS-RELATED GTP-BINDING PROTEIN D; RRAGD; 608981 ACTIVIN A RECEPTOR, TYPE IC; ACVR1C; 610566 MICRO RNA 146A; MIRN146A; 611534 NUCLEOLAR PROTEIN 8; NOL8; 612194 RAS-RELATED GTP-BINDING PROTEIN A; RRAGA

July 22, 2008
New Entries:: 608850 MACULAR DYSTROPHY, RETINAL, 3; 612186 DMX-LIKE 2; DMXL2; 612188 VACUOLAR PROTEIN SORTING 39, YEAST, HOMOLOG OF; VPS39; 612189 PHENAZINE BIOSYNTHESIS-LIKE PROTEIN DOMAIN-CONTAINING PROTEIN; PBLD; 612190 G PROTEIN BETA SUBUNIT-LIKE PROTEIN; 612191 PC3 PROSTATE CANCER CELL-SECRETED MICROPROTEIN
Changed Entries:: 147450 SUPEROXIDE DISMUTASE 1; SOD1; 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 300429 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9; 300607 HYPEREKPLEXIA AND EPILEPSY; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 602870 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 1; IMPG1; 604896 MKKS GENE; MKKS; 607854 BESTROPHIN 1; BEST1; 607991 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 3; SLC8A3; 608051 MACULAR DYSTROPHY, RETINAL, 2; 608850 MACULAR DYSTROPHY, RETINAL, 3; 609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; 610558 MITOGEN-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; MAPKAP1; 611932 CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1

July 21, 2008
New Entries:: 300724 CONNECTOR ENHANCER OF KSR 2; CNKSR2; 612187 HEME-RESPONSIVE GENE 1; Clinical Synopsis for 612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12
Changed Entries:: 107940 ARRESTIN, BETA, 1; ARRB1; 107941 ARRESTIN, BETA, 2; ARRB2; 120970 CONE-ROD DYSTROPHY 2; CORD2; 129905 EGASYN; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 176730 INSULIN; INS; 300292 FORKHEAD BOX P3; FOXP3; 300474 GLYCEROL KINASE; GK; 300724 CONNECTOR ENHANCER OF KSR 2; CNKSR2; 306700 HEMOPHILIA A; 307030 HYPERGLYCEROLEMIA; 600624 CONE-ROD DYSTROPHY 1; CORD1; 600977 CONE-ROD DYSTROPHY 5; CORD5; 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH; 601777 CONE-ROD DYSTROPHY 6; CORD6; 603272 CONNECTOR ENHANCER OF KSR 1; CNKSR1; 603584 MAP KINASE-ACTIVATING DEATH DOMAIN; MADD; 603649 CONE-ROD DYSTROPHY 7; CORD7; 604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1; 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2; 604683 KINESIN FAMILY MEMBER 3A; KIF3A; 605549 CONE-ROD DYSTROPHY 8; CORD8; 606978 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7; COG7; 608194 CONE-ROD DYSTROPHY 9; CORD9; 608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E; 608921 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3; 610283 CONE-ROD DYSTROPHY 10; CORD10; 610331 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 6; HES6; 610381 CONE-ROD DYSTROPHY 11; CORD11; 612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12; 612187 HEME-RESPONSIVE GENE 1

July 18, 2008
New Entries:: 612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; 612183 G PROTEIN-COUPLED RECEPTOR 176; GPR176; 612184 CASK-INTERACTING PROTEIN 1; CASKIN1; 612185 CASK-INTERACTING PROTEIN 2; CASKIN2
Changed Entries:: 114500 COLORECTAL CANCER; CRC; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 126450 DOPAMINE RECEPTOR D2; DRD2; 126660 DREBRIN E; DBN1; 129400 RAPP-HODGKIN SYNDROME; RHS; 135940 FILAGGRIN; FLG; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; 176730 INSULIN; INS; 180385 LIM DOMAIN ONLY 2; LMO2; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 186357 SYNDECAN 3; SDC3; 191170 TUMOR PROTEIN p53; TP53; 259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE; 300132 TROPHININ; TRO; 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK; 300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; 300712 CRANIOFACIOSKELETAL SYNDROME; 308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; 601205 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; SIX1; 601688 15-@HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 602414 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 1; APBA1; 602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3; 608389 BRANCHIOOTIC SYNDROME 3; BOS3; 609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; 610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A; 612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; 612173 SPERM-ASSOCIATED ANTIGEN 16; SPAG16; 612184 CASK-INTERACTING PROTEIN 1; CASKIN1

July 17, 2008
New Entries:: 610251 ALCOHOL SENSITIVITY, ACUTE; 612182 N-ACETYLTRANSFERASE 2; NAT2
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 119530 OROFACIAL CLEFT 1; OFC1; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 164950 FIBROBLAST GROWTH FACTOR 3; FGF3; 168600 PARKINSON DISEASE; PD; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 243400 ACETYLATION, SLOW; 300088 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR; 300460 PROTOCADHERIN 19; PCDH19; 602115 FIBROBLAST GROWTH FACTOR 10; FGF10; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603530 LIGHT FIXATION SEIZURE SYNDROME; 606416 NLR FAMILY, PYRIN-DOMAIN CONTAINING 3; NLRP3; 607047 ATAXIN 3; ATXN3; 610251 ALCOHOL SENSITIVITY, ACUTE

July 16, 2008
New Entries:: 612054 REQUIRED FOR CELL DIFFERENTIATION 1, S. POMBE, HOMOLOG OF; RQCD1; 612181 MUCIN 13, CELL SURFACE-ASSOCIATED; MUC13
Changed Entries:: 100670 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1; 103700 ALCOHOL DEHYDROGENASE 1A, ALPHA POLYPEPTIDE; ADH1; 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD; 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE; 137215 GASTRIC CANCER; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 158170 MONOSOMY 9p SYNDROME; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 176270 PRADER-WILLI SYNDROME; PWS; 176960 PROTEIN KINASE C, ALPHA; PRKCA; 188400 DIGEORGE SYNDROME; DGS; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 224050 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH; 260400 SHWACHMAN-DIAMOND SYNDROME; SDS; 601645 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), GAMMA; PPP2R5C; 601665 OBESITY; 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7; 601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14; 602470 PROSTATE STEM CELL ANTIGEN; PSCA; 602731 FYN-BINDING PROTEIN; FYB; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 605436 PRADER-WILLI CRITICAL REGION GENE 1; PWCR1; 607375 DOT1-LIKE; DOT1L; 607444 SBDS GENE; SBDS; 608225 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 608951 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6; CNOT6; 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 609337 MICRO RNA 155; MIRN155; 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION; 611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63; 612054 REQUIRED FOR CELL DIFFERENTIATION 1, S. POMBE, HOMOLOG OF; RQCD1; 612170 MUCIN 19, OLIGOMERIC; MUC19

July 15, 2008
New Entries:: 612172 DEAD BOX POLYPEPTIDE 23; DDX23; 612177 RNA, 7SL, CYTOPLASMIC 1; RN7SL1; 612178 CHROMOSOME 1 OPEN READING FRAME 59; C1ORF59; 612179 RNA, 7SL, CYTOPLASMIC 2; RN7SL2; 612180 RNA, 7SL, CYTOPLASMIC 3; RN7SL3
Changed Entries:: 124092 INTERLEUKIN 10; IL10; 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA; 133540 COCKAYNE SYNDROME, TYPE B; CSB; 134370 COMPLEMENT FACTOR H; CFH; 143100 HUNTINGTON DISEASE; HD; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3; 191170 TUMOR PROTEIN p53; TP53; 192090 CADHERIN 1; CDH1; 194355 X BOX-BINDING PROTEIN 1; XBP1; 220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 480000 SEX-DETERMINING REGION Y; SRY; 600036 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 1; OTX1; 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC; 601488 NEUTROPHIL CYTOSOLIC FACTOR 4; NCF4; 601665 OBESITY; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 601939 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 1; SRPK1; 602098 POLO-LIKE KINASE 1; PLK1; 602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2; 602681 FORKHEAD BOX O3A; FOXO3A; 602727 CHLORIDE CHANNEL 7; CLCN7; 602848 BROMODOMAIN-CONTAINING PROTEIN 8; BRD8; 602980 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 2; SRPK2; 602990 CDC-LIKE KINASE 3; CLK3; 603015 TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN; TRRAP; 603072 AURORA KINASE A; AURKA; 604092 TTK PROTEIN KINASE; TTK; 604511 CHROMOBOX HOMOLOG 1; CBX1; 604607 HOMEOBOX B13; HOXB13; 605053 TAR RNA-BINDING PROTEIN 2; TARBP2; 605077 DNMT1-ASSOCIATED PROTEIN 1; DNMAP1; 605081 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 3; PSCD3; 606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606265 E1A-BINDING PROTEIN, 400-KD; EP400; 606430 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A5; UGT1A5; 606515 RNA, 7SK, SMALL NUCLEAR; RN7SK; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608160 SRY-BOX 9; SOX9; 608951 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6; CNOT6; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 610510 AURORA BOREALIS; 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB; 611893 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 2;; 612157 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1; 612172 DEAD BOX POLYPEPTIDE 23; DDX23; 612177 RNA, 7SL, CYTOPLASMIC 1; RN7SL1; Clinical Synopsis for 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION

July 14, 2008
New Entries:: 300723 SYNAPTOTAGMIN-LIKE 4; SYTL4; 612171 REPRIMO; RPRM; 612173 SPERM-ASSOCIATED ANTIGEN 16; SPAG16; 612174 CALCIUM-BINDING PROTEIN 39; CAB39; 612175 CALCIUM-BINDING PROTEIN 39-LIKE PROTEIN; CAB39L; 612176 MYB-LIKE, SWIRM, AND MPN DOMAINS-CONTAINING PROTEIN 1; MYSM1
Changed Entries:: 113100 BRACHYDACTYLY, TYPE C; BDC; 114480 BREAST CANCER; 126449 DOPAMINE RECEPTOR D1; DRD1; 148760 KINESIN FAMILY MEMBER 11; KIF11; 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA; 185800 SYMPHALANGISM, PROXIMAL; SYM1; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 193400 VON WILLEBRAND DISEASE; 259420 OSTEOGENESIS IMPERFECTA, TYPE III; 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX; 306700 HEMOPHILIA A; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 603892 ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604399 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1B; PPP1R1B; 604894 ONE CUT HOMEOBOX 2; ONECUT2; 606478 PROTECTION OF TELOMERES 1; POT1; 608353 ANTIZYME INHIBITOR 2; 609377 ACD, MOUSE, HOMOLOG OF; ACD; 609883 MKS1 GENE; MKS1; 609884 TRANSMEMBRANE PROTEIN 67; TMEM67; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610339 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1; 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611186 MICRO RNA 9-1; MIRN9-1; 611279 KINESIN FAMILY MEMBER 14; KIF14; 612120 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR C; CIDEC; 612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12; 612169 Fc FRAGMENT OF IgG, LOW AFFINITY IIc, RECEPTOR FOR; FCGR2C; 612171 REPRIMO; RPRM

July 11, 2008
New Entries:: 612166 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 2; SLC39A2; 612168 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 3; SLC39A3; 612169 Fc FRAGMENT OF IgG, LOW AFFINITY IIc, RECEPTOR FOR; FCGR2C; 612170 MUCIN 19; MUC19
Changed Entries:: 109350 GASTROESOPHAGEAL REFLUX; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 133540 COCKAYNE SYNDROME, TYPE B; CSB; 158170 MONOSOMY 9p SYNDROME; 171300 PHEOCHROMOCYTOMA; 185605 SYNAPTOTAGMIN I; SYT1; 186000 SYNPOLYDACTYLY 1; SPD1; 226450 MOVED TO 226600 AND 226650; 236670 WALKER-WARBURG SYNDROME; WWS; 256700 NEUROBLASTOMA; 300540 UCHL5-INTERACTING PROTEIN; UCHL5IP; 300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1; 603182 INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3; 603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN; 604740 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1; 605162 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GADD45G-INTERACTING PROTEIN;; 605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 607440 FUKUTIN; FKTN; 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV; 608363 MICRODUPLICATION 22q11.2; 608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5; 608921 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3; 609201 UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN B; UBASH3B; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 609582 MICRO RNA 122A; MIRN122A; 610784 MICRO RNA 29C; MIRN29C; 611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3; 612090 MICRO RNA 200A; MIRN200A; 612091 MICRO RNA 200B; MIRN200B; 612092 MICRO RNA 200C; MIRN200C; 612093 MICRO RNA 141; MIRN141; 612094 MICRO RNA 429; MIRN429; 612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9; 612111 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8; TNFAIP8; 612112 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 2; TNFAIP8L2; 612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10; 612114 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11; 612115 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARHGEF3; 612116 UBIQUITIN-SPECIFIC PROTEASE 22; USP22; 612117 MICRO RNA 143; MIRN143; 612118 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 3; IQSEC3; 612119 TREHALASE DEFICIENCY; 612120 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR C; CIDEC; 612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL; 612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; 612139 DEP DOMAIN-CONTAINING PROTEIN 2; DEPDC2; 612140 SEPTIN 14; SEPT14; 612141 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4A; EPB41L4A; 612147 MYOSIN LIGHT CHAIN KINASE 3; MYLK3; 612149 RNA-BINDING MOTIF PROTEIN 9; RBM9; 612157 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1; 612158 CARDIOMYOPATHY, DILATED, 1AA; CMD1AA; 612159 RABPHILIN 3A; RPH3A; 612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS; 612161 ANEURYSM, INTRACRANIAL BERRY, 7; 612162 ANEURYSM, INTRACRANIAL BERRY, 8; 612166 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 2; SLC39A2; 612168 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 3; SLC39A3

July 10, 2008
New Entries:: 612165 RETINITIS PIGMENTOSA 29; RP29; 612167 WD REPEAT-CONTAINING PROTEIN 48; WDR48
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 153390 LYMPHOCYTE-SPECIFIC PROTEIN-TYROSINE KINASE; LCK; 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; 213300 JOUBERT SYNDROME 1; JBTS1; 220500 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 602402 FORKHEAD BOX C2; FOXC2; 603252 FORKHEAD BOX L1; FOXL1; 603438 RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS,; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K; 609302 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER; 609712 PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR

July 9, 2008
New Entries:: 612161 ANEURYSM, INTRACRANIAL BERRY, 7; 612162 ANEURYSM, INTRACRANIAL BERRY, 8; 612163 TWO-PORE SEGMENT CHANNEL 2; TPCN2
Changed Entries:: 103390 AHNAK NUCLEOPROTEIN; AHNAK; 103600 ALBUMIN; ALB; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 108345 N-ACETYLTRANSFERASE 1; NAT1; 113970 BURKITT LYMPHOMA; BL; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 137070 FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS; 147557 INTEGRIN, BETA-4; ITGB4; 150210 LACTOTRANSFERRIN; LTF; 154700 MARFAN SYNDROME; MFS; 191170 TUMOR PROTEIN p53; TP53; 226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE; 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE; 227400 FACTOR V DEFICIENCY; 243400 ISONIAZID INACTIVATION; 600374 BBS4 GENE; BBS4; 601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI; 601253 CAVEOLIN 3; CAV3; 602681 FORKHEAD BOX O3A; FOXO3A; 605166 HISTONE DEACETYLASE 3; HDAC3; 605551 NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP; 606151 BBS2 GENE; BBS2; 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C; 608764 NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; NAMPT; 608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3

July 8, 2008
New Entries:: 612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS
Changed Entries:: 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2; 120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3; 123803 ACTIVATING TRANSCRIPTION FACTOR 1; ATF1; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 123811 ACTIVATING TRANSCRIPTION FACTOR 2; ATF2; 128230 DYSTONIA, DOPA-RESPONSIVE; DRD; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 134370 COMPLEMENT FACTOR H; CFH; 150292 LAMININ, GAMMA-2; LAMC2; 158810 BETHLEM MYOPATHY; 162640 NEUROPEPTIDE Y; NPY; 171300 PHEOCHROMOCYTOMA; 180390 RIBONUCLEOTIDE REDUCTASE, M2 SUBUNIT; RRM2; 180410 RIBONUCLEOTIDE REDUCTASE, M1 SUBUNIT; RRM1; 209900 BARDET-BIEDL SYNDROME; BBS; 225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE; 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE; 231070 GERODERMA OSTEODYSPLASTICA; GO; 256700 NEUROBLASTOMA; 257320 LISSENCEPHALY 2; LIS2; 277950 WINCHESTER SYNDROME; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600514 REELIN; RELN; 600805 LAMININ, ALPHA-3; LAMA3; 600953 INTERLEUKIN 18; IL18; 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;; 601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A; 604539 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605000 CORONIN 1A; CORO1A; 605995 KINESIN FAMILY MEMBER 1B; KIF1B; 607195 MOVED TO 128230; 608083 APOLIPOPROTEIN C-II; APOC2; 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX

July 7, 2008
New Entries:: 612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
Changed Entries:: 102575 ACTININ, ALPHA-1; ACTN1; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT; 150290 LAMININ, GAMMA-1; LAMC1; 226450 MOVED TO 226600 AND 226650; 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB; 226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE; 226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; 226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA; 601282 PLECTIN 1; PLEC1; 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB; Clinical Synopsis for 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49

July 3, 2008
New Entries:: 612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL
Changed Entries:: 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND; 102573 ACTININ, ALPHA-2; ACTN2; 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS; 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT; 107741 APOLIPOPROTEIN E; APOE; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 116806 CATENIN, BETA-1; CTNNB1; 125660 DESMIN; DES; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; 139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR; 155720 MELANOMA, UVEAL; 161650 NEBULIN; NEB; 161800 NEMALINE MYOPATHY 3; NEM3; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 176300 TRANSTHYRETIN; TTR; 182175 SIGNAL RECOGNITION PARTICLE, 19-KD; SRP19; 182920 MYOPATHY, SPHEROID BODY; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 188840 TITIN; TTN; 190990 TROPOMYOSIN 2; TPM2; 224900 ECTODERMAL DYSPLASIA, ANHIDROTIC; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300276 ECTODYSPLASIN A2 RECEPTOR; EDA2R; 300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY; 300451 ECTODYSPLASIN A; EDA; 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA; 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA; 600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3; 601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1; 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1; 602941 BREAST CANCER ANTIESTROGEN RESISTANCE 1; BCAR1; 603508 MYOMESIN 1; MYOM1; 603509 MYOMESIN 2; MYOM2; 603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF; 604095 ECTODYSPLASIN A RECEPTOR; EDAR; 604103 TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID; 604312 CYSTATIN 3; CST3; 604488 TITIN-CAP; TCAP; 605491 NEBULETTE; 605602 MYOZENIN 2; MYOZ2; 605603 MYOZENIN 1; MYOZ1; 607567 OLFACTOMEDIN 3; OLFM3; 608616 OBSCURIN; OBSCN; 609285 NEMALINE MYOPATHY 4; NEM4; 611695 TAU TUBULIN KINASE 2; TTBK2; 611761 LIPASE MATURATION FACTOR 1; LMF1; 611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6; 611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y; 612045 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 3; C1QTNF3; 612109 OCULOAURICULAR SYNDROME; 612128 RAS-LIKE, FAMILY 10, MEMBER B; RASL10B; 612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL; Clinical Synopsis for 128230 DYSTONIA, DOPA-RESPONSIVE; DRD

July 2, 2008
New Entries:: 612159 RABPHILIN 3A; RPH3A
Changed Entries:: 128800 EAR WITHOUT HELIX; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 147556 INTEGRIN, ALPHA-6; ITGA6; 147557 INTEGRIN, BETA-4; ITGB4; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 190700 ZINC FINGER PROTEIN 36, MOUSE, HOMOLOG OF; ZFP36; 191070 TRYPTOPHAN 2,3-DIOXYGENASE; TDO2; 300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,; 304700 MOHR-TRANEBJAERG SYNDROME; MTS; 600776 FRYNS MICROPHTHALMIA SYNDROME; 601367 STROKE, ISCHEMIC; 601414 RETINITIS PIGMENTOSA 18; RP18; 603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 604567 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, ALPHA; DOC2A; 604568 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, BETA; DOC2B; 604881 RABPHILIN 3A-LIKE; RPH3AL; 605162 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GADD45G-INTERACTING PROTEIN;; 605549 CONE-ROD DYSTROPHY 8; CORD8; 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1; 607301 PRECURSOR mRNA-PROCESSING FACTOR 3, S. CEREVISIAE, HOMOLOG OF; PRPF3; 607383 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13, YEAST, HOMOLOG OF;; 607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF; SCRIB; 610672 BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B; 612129 INDOLEAMINE 2,3-DIOXYGENASE-LIKE 1; INDOL1; 612130 GENE AMPLIFIED IN ESOPHAGEAL CANCER 1; GAEC1; 612149 RNA-BINDING MOTIF PROTEIN 9; RBM9

July 1, 2008
Changed Entries:: 102573 ACTININ, ALPHA-2; ACTN2; 107741 APOLIPOPROTEIN E; APOE; 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 142963 HOMEOBOX B8; HOXB8; 150310 LAMININ, BETA-3; LAMB3; 164874 FORKHEAD BOX G1; FOXG1; 191170 TUMOR PROTEIN p53; TP53; 226000 ENDOCARDIAL FIBROELASTOSIS; EFE; 300427 NEUROLIGIN 4; NLGN4; 300721 MICRO RNA LET7F2; MIRNLET7F2; 300722 MICRO RNA 19B2; MIRN19B2; 600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3; 603570 VANIN 1; VNN1; 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 605104 ATAXIN 2-BINDING PROTEIN 1; 607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M; 607483 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE; 608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4; 610782 MICRO RNA 29A; MIRN29A; 610783 MICRO RNA 29B1; MIRN29B1; 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2; 611806 ARSENIC (+3 OXIDATION STATE) METHYLTRANSFERASE; AS3MT; 611940 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 4; MBOAT4; 612081 INTERLEUKIN 34; IL34; 612133 TRANSCRIPTION FACTOR NFE4; NFE4; 612140 SEPTIN 14; SEPT14; 612142 MICRO RNA LET7A2; MIRNLET7A2; 612143 MICRO RNA LET7A3; MIRNLET7A3; 612144 MICRO RNA LET7C; MIRNLET7C; 612145 MICRO RNA LET7D; MIRNLET7D; 612146 MICRO RNA LET7F1; MIRNLET7F1; 612147 MYOSIN LIGHT CHAIN KINASE 3; MYLK3; 612148 MICRO RNA LET7I; MIRNLET7I; 612150 MICRO RNA 25; MIRN25; 612151 MICRO RNA 26A1; MIRN26A1; 612152 MICRO RNA 26B; MIRN26B; 612153 MICRO RNA 27A; MIRN27A; 612154 MICRO RNA 28; MIRN28; 612155 MICRO RNA 31; MIRN31; 612156 MICRO RNA 33A; MIRN33A

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