OMIM Update List for July, 2007

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Nucleotide

Protein

Genome

OMIM Update List for July, 2007

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July 31, 2007
New Entries:: 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G; 611271 KINESIN FAMILY MEMBER 18A; KIF18A; 611272 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 5; ZKSCAN5; 611273 LBX1 COREPRESSOR 1, MOUSE, HOMOLOG OF; LBXCOR1
Changed Entries:: 102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 211980 LUNG CANCER; 277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 300377 DYSTROPHIN; DMD; 304150 CUTIS LAXA, X-LINKED; 600293 ADENYLATE CYCLASE 5; ADCY5; 601260 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 1; ZKSCAN1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 602194 HTRA SERINE PEPTIDASE 1; HTRA1; 602716 NEPHRIN; NPHS1; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 604446 PHOSPHOTRIESTERASE-RELATED PROTEIN; PTER; 606973 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1; 606989 MYELOPEROXIDASE; MPO; 607652 SERINE/THREONINE PROTEIN KINASE 36; STK36; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; 610867 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 1: LRRTM1; 611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF; Clinical Synopsis for 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

July 30, 2007
New Entries:: 300659 MENTAL RETARDATION, X-LINKED 93; MRX93; 611265 PEROXISOMAL PROLIFERATOR-ACTIVATED RECEPTOR ALPHA-INTERACTING COFACTOR; 611266 ACTIN, KAPPA; 611267 OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 1; OR51E1; 611268 OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 2; OR51E2; 611269 NUCLEOLAR PROTEIN WITH MIF4G DOMAIN 1; NOM1; 611270 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, BETA; NAPB
Changed Entries:: 116600 CATARACT, POSTERIOR POLAR, 1; CTPP1; 147720 INTERLEUKIN 1-BETA; IL1B; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; 248300 MAL DE MELEDA; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300279 MENTAL RETARDATION, X-LINKED, WITH PROGRESSIVE SPASTICITY; 300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600273 POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS;; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600990 MOVED TO 119580; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 602427 T-BOX 6; TBX6; 603085 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 1; SLC31A1; 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1; 605195 MESODERM POSTERIOR 2; MESP2; 605387 CATARACT, POSTERIOR POLAR, 3; CTPP3; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 605661 TRIPARTITE MOTIF-CONTAINING PROTEIN 13; TRIM13; 605766 DELETED IN LYMPHOCYTIC LEUKEMIA, 2; DLEU2; 606890 GALACTOSYLCERAMIDASE; GALC; 607947 POTASSIUM CHANNEL REGULATOR; KCNRG; 609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 610634 CATARACT, POSTERIOR POLAR, 5; CTPP5; 611223 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 3; AKT3; 611267 OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 1; OR51E1

July 27, 2007
New Entries:: 300658 NDP GENE; NDP; 611259 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1; 611264 CHROMOSOME 6 OPEN READING FRAME 173; C6ORF173
Changed Entries:: 106210 ANIRIDIA, TYPE II; AN2; 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1; 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; 158370 MUCIN 2, INTESTINAL; MUC2; 158374 MUCIN 6, GASTRIC; MUC6; 300216 COATS DISEASE; 301500 FABRY DISEASE; 305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2; 309860 MONOAMINE OXIDASE B; MAOB; 310600 NORRIE DISEASE; ND; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600415 TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA; 600431 CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B; 600734 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 5; KCNJ5; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 600944 DEOXYHYPUSINE SYNTHASE; DHPS; 601076 MURCS ASSOCIATION; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601877 LEFT-RIGHT DETERMINATION FACTOR 2; LEFTY2; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602544 PARKIN; PARK2; 603054 GREMLIN 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM1; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603777 CERBERUS 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; CER1; 604172 CARONTE; 604420 HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 605046 UBIQUILIN 1; UBQLN1; 605227 REVERSION-INDUCING CYSTEINE-RICH PROTEIN WITH KAZAL MOTIFS; RECK; 606607 PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7; 608289 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 2; IGF2BP2; 608832 GREMLIN 2 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM2; 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;; 610249 PROTEIN O-FUCOSYLTRANSFERASE 2; POFUT2; 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO; 611035 CHROMOSOME 2 OPEN READING FRAME 13; C2ORF13; 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8; 611262 DEOXYHYPUSINE HYDROXYLASE; DOHH; 611264 CHROMOSOME 6 OPEN READING FRAME 173; C6ORF173

July 26, 2007
New Entries:: 611260 THREONINE SYNTHASE-LIKE 1; THNSL1; 611261 THREONINE SYNTHASE-LIKE 2; THNSL2; 611262 DEOXYHYPUSINE HYDROXYLASE; DOHH
Changed Entries:: 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS; 235730 MOWAT-WILSON SYNDROME; 238200 MOVED TO 220100; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600623 CD82 ANTIGEN; CD82; 601534 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 3; KCNJ3; 601601 TRANSCRIPTION FACTOR AP2-BETA; TFAP2B; 601999 LIM HOMEOBOX GENE 1; LHX1; 602165 TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27; 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2; 603584 MAP KINASE-ACTIVATING DEATH DOMAIN; MADD; 604934 TUBULIN-SPECIFIC CHAPERONE E; TBCE; 607275 HOMEODOMAIN-ONLY PROTEIN; 607292 SEMAPHORIN 4A; SEMA4A; 607817 COH1 GENE; COH1; 608160 SRY-BOX 9; SOX9; 610247 ESOPHAGITIS, EOSINOPHILIC; 610999 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 1; EPC1; 611261 THREONINE SYNTHASE-LIKE 2; THNSL2; 611262 DEOXYHYPUSINE HYDROXYLASE; DOHH; Clinical Synopsis for 238200 MOVED TO 220100; Clinical Synopsis for 245200 KRABBE DISEASE

July 25, 2007
New Entries:: 611251 PATCHED DOMAIN-CONTAINING 2; PTCHD2; 611253 KINESIN FAMILY MEMBER 27, KIF27; 611254 KINESIN FAMILY MEMBER 7, KIF7; 611255 NADPH OXIDASE ACTIVATOR 1; NOXA1; 611256 NADPH OXIDASE ORGANIZER 1; NOXO1; 611257 TRANSMEMBRANE PROTEIN 132D; TMEM132D; 611258 TUDOR DOMAIN-CONTAINING 7; TDRD7
Changed Entries:: 102560 ACTIN, GAMMA-1; ACTG1; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 188060 THROMBOSPONDIN I; THBS1; 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101; 601933 CRYPTOCHROME 1; CRY1; 603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS; 605037 KINESIN FAMILY MEMBER 17; KIF17; 606078 MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MKL1; 608074 PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP; 608322 KINESIN FAMILY MEMBER 21B; KIF21B; 608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5

July 24, 2007
New Entries:: 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 611242 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5; 611243 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF;; 611244 tRNA METHYLTRANSFERASE 12, S. CEREVISIAE, HOMOLOG OF; TRMT12; 611245 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 3, S. CEREVISIAE, HOMOLOG OF;; 611246 LEUCINE CARBOXYL METHYLTRANSFERASE 2; LCMT2; 611247 MAJOR AFFECTIVE DISORDER 4; MAFD4; 611248 KELCH DOMAIN-CONTAINING 3; KLHDC3; 611249 MICRO RNA LET7B; MIRNLET7B; 611250 MICRO RNA LET7E; MIRNLET7E
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 114290 CAMPOMELIC DYSPLASIA; 123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 143150 H-Y ANTIGEN RECEPTOR; 143170 MALE-ENHANCED ANTIGEN 1; MEA1; 154230 SEX REVERSAL, AUTOSOMAL, 2; SRA2; 164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 176270 PRADER-WILLI SYNDROME; PWS; 180300 RHEUMATOID ARTHRITIS; RA; 201810 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF; 208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP; 212750 CELIAC DISEASE; CD; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 223320 DIVERTICULOSIS, SMALL-INTESTINAL; 228020 FASCIAL DYSTROPHY, CONGENITAL; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 275000 GRAVES DISEASE; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600434 FATTY ACID-BINDING PROTEIN 4; FABP4; 600611 FK506-BINDING PROTEIN 4; FKBP4; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 601621 T-BOX 3; TBX3; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605386 MICRO RNA LET7A1; MIRNLET7A1; 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2; 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 607022 CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL; 607115 CINCA SYNDROME; CINCA; 607364 BARTTER SYNDROME, TYPE 3; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607599 RETINOL DEHYDROGENASE 10; RDH10; 609099 F-BOX ONLY PROTEIN 27; FBXO27; 609960 KIAA0020 GENE; KIAA0020; 610767 AUTOPHAGY 16-LIKE 1; ATG16L1; 611023 tRNA METHYLTRANSFERASE 5, S. CEREVISIAE, HOMOLOG OF; TRMT5; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9; 611242 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5; 611247 MAJOR AFFECTIVE DISORDER 4; MAFD4

July 23, 2007
New Entries:: 611238 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 7; CHCHD7; 611239 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 1; GPRIN1; 611240 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 2; GPRIN2; 611241 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 3; GPRIN3
Changed Entries:: 134921 FIBROBLAST GROWTH FACTOR 6; FGF6; 188410 THYMOCYTE ANTIGEN CD1D; CD1D; 603026 PLEOMORPHIC ADENOMA GENE 1; PLAG1; 604479 SIRTUIN 1; SIRT1; 604480 SIRTUIN 2; SIRT2; 609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A

July 20, 2007
New Entries:: 611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J; 611230 NON-SMC CONDENSIN II COMPLEX SUBUNIT H2; NCAPH2; 611231 CLAUDIN 8; CLDN8; 611232 CLAUDIN 12; CLDN12; 611233 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS-LIKE 1; ARMETL1; 611234 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER A; FAM84A; 611235 TRANSMEMBRANE PROTEIN 38A; TMEM38A; 611236 TRANSMEMBRANE PROTEIN 38B; TMEM38B; 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9
Changed Entries:: 102581 ACTIVIN A RECEPTOR, TYPE II; ACVR2; 134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1; 140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS; 300377 DYSTROPHIN; DMD; 601253 CAVEOLIN 3; CAV3; 601788 MYOSTATIN; MSTN; 601916 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS; ARMET; 602332 NON-SMC CONDENSIN I COMPLEX SUBUNIT H; NCAPH; 602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B; 602909 CLAUDIN 4; CLDN4; 602910 CLAUDIN 3; CLDN3; 603718 CLAUDIN 1; CLDN1; 603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11; 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, LOCUS 1; 605336 COMPLEMENT FACTOR H-RELATED 3; CFHR3; 605343 FOLLISTATIN-LIKE 3; FSTL3; 606280 NON-SMC CONDENSIN I COMPLEX SUBUNIT G; NCAPG; 606658 SPINOCEREBELLAR ATAXIA 15; SCA15; 608532 NON-SMC CONDENSIN II COMPLEX SUBUNIT G2; NCAPG2; 609276 NON-SMC CONDENSIN II COMPLEX SUBUNIT D3; NCAPD3; 609390 KIAA0274

July 19, 2007
New Entries:: 611226 ARMADILLO REPEAT-CONTAINING PROTEIN 3; ARMC3; 611227 HYDROGEN VOLTAGE-GATED CHANNEL 1; HVCN1; 611229 CHROMOSOME 2 OPEN READING FRAME 30; C2ORF30
Changed Entries:: 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 142900 HOLT-ORAM SYNDROME; HOS; 160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA; 180200 RETINOBLASTOMA; RB1; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 257320 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 300394 TAFAZZIN; TAZ; 302060 BARTH SYNDROME; BTHS; 535000 LEBER OPTIC ATROPHY; 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; 600514 REELIN; RELN; 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI; 602378 DYNAMIN 2; DNM2; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 605575 STRUCTURAL MAINTENANCE OF CHROMOSOMES 4; SMC4; 605576 STRUCTURAL MAINTENANCE OF CHROMOSOMES 2; SMC2; 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G; 607144 ASPARAGINE-LINKED GLYCOSYLATION 12, S. CEREVISIAE, HOMOLOG OF; ALG12; 608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1; 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY,; 609386 STRUCTURAL MAINTENANCE OF CHROMOSOMES 5; SMC5; 609387 STRUCTURAL MAINTENANCE OF CHROMOSOMES 6; SMC6; 609831 MMACHC GENE; 610098 MINICHROMOSOME MAINTENANCE DEFICIENT DOMAIN CONTAINING 1; MCMDC1; 610924 RANBP-TYPE AND C3HC4-TYPE ZINC FINGER-CONTAINING 1; RBCK1; 611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14; Clinical Synopsis for 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

July 18, 2007
New Entries:: 611219 UNC45, C. ELEGANS, HOMOLOG OF, A; UNC45A; 611221 GASDERMIN-LIKE; GSDML; 611222 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10; 611223 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 3; AKT3; 611224 SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT; SUCLG1
Changed Entries:: 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE; 119300 VAN DER WOUDE SYNDROME; VWS; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1; 126065 CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1; 137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 147620 INTERLEUKIN 6; IL6; 164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2; 167800 PANCREATITIS, HEREDITARY; PCTT; 176730 INSULIN; INS; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 182290 SMITH-MAGENIS SYNDROME; SMS; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC; 212720 MARTSOLF SYNDROME; 220100 CYSTINURIA; 238200 MOVED TO 220100; 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1; 245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 601499 RIEGER SYNDROME, TYPE 2; RIEG2; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603989 ZINC FINGER PROTEIN 107; ZNF107; 604144 SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9; 604229 PETERS ANOMALY; 604283 PROTEOGLYCAN 4; PRG4; 604356 DUANE RETRACTION SYNDROME 2; 605088 MAJOR VAULT PROTEIN, RAT, HOMOLOG OF; MVP; 607358 AUTOIMMUNE REGULATOR; AIRE; 608384 MELANOMA-DERIVED LEUCINE ZIPPER-CONTAINING EXTRANUCLEAR FACTOR; MLZE; 609396 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE; PHLPP; 611057 MOVED TO 603989; 611066 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE-LIKE; PHLPPL; 611218 GASDERMIN 1; GSDM1; 611220 UNC45, C. ELEGANS, HOMOLOG OF, B; UNC45B; 611221 GASDERMIN-LIKE; GSDML

July 17, 2007
New Entries:: 611211 RECEPTOR EXPRESSED IN LYMPHOID TISSUES; RELT; 611212 RELT-LIKE 1; RELL1; 611213 RELT-LIKE 2; RELL2; 611214 TSR1, 20S rRNA ACCUMULATION, S. CEREVISIAE, HOMOLOG OF; TSR1; 611215 PRADER-WILLI REGION NONCODING RNA 1; PWRN1; 611216 UBX DOMAIN-CONTAINING 2; UBXD2; 611217 PRADER-WILLI REGION NONCODING RNA 2; PWRN2; 611218 GASDERMIN 1; GSDM1; 611220 UNC45, C. ELEGANS, HOMOLOG OF, B; UNC45B
Changed Entries:: 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR; 139320 GNAS COMPLEX LOCUS; GNAS; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147720 INTERLEUKIN 1-BETA; IL1B; 150330 LAMIN A/C; LMNA; 207700 MOVED TO 107600; 245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY; 262500 GROWTH HORMONE INSENSITIVITY SYNDROME; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 605063 STRESS-INDUCED PHOSPHOPROTEIN 1; STIP1; 606796 SUPPRESSION OF TUMORIGENICITY 13; ST13; 610922 CHROMOSOME 15 OPEN READING FRAME 2; C15ORF2; 610924 RANBP-TYPE AND C3HC4-TYPE ZINC FINGER-CONTAINING 1; RBCK1; 611213 RELT-LIKE 2; RELL2; Clinical Synopsis for 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE

July 16, 2007
New Entries:: 611203 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 5; DNAJC5; 611204 COILED-COIL DOMAIN-CONTAINING PROTEIN 88C; CCDC88C; 611205 COILED-COIL DOMAIN-CONTAINING PROTEIN 88B; CCDC88B; 611206 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 9; DNAJC9; 611207 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 1; DNAJC1; 611208 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN L-LIKE; HNRPLL; 611210 PDZ-BINDING KINASE; PBK
Changed Entries:: 100300 ADAMS-OLIVER SYNDROME; AOS; 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1; 107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT; 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC, AUTOSOMAL DOMINANT; 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3; 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 143100 HUNTINGTON DISEASE; HD; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1; 278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG; 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15; 300613 MYOPIA 13; 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA; 600727 NUCLEAR FACTOR I/A; NFIA; 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8; 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C; 601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 603419 SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN,; 604570 SHROOM FAMILY MEMBER 3; SHROOM3; 605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1; 605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; 608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2; 609736 COILED-COIL DOMAIN-CONTAINING PROTEIN 88A; CCDC88A; 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB; 611207 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 1; DNAJC1; 611208 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN L-LIKE; HNRPLL

July 13, 2007
New Entries:: 300657 CANCER/TESTIS ANTIGEN 1A; CTAG1A; 611202 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2; ASAH2
Changed Entries:: 126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2; 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 184753 STEROID 5-ALPHA-REDUCTASE 1; SRD5A1; 194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE; 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 300156 CANCER/TESTIS ANTIGEN 1B; CTAG1B; 300184 HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM; 308700 KALLMANN SYNDROME 1; KAL1; 600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 601760 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 4; GTF2H4; 604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5; 607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 609716 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 3; TREML3; 610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE; 610987 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2C; ASAH2C; 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND; 611194 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 3; RUFY3; 611197 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 2; JAKMIP2

July 12, 2007
New Entries:: 300655 KELCH-LIKE 13; KLHL13; 300656 URACIL PHOSPHORIBOSYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF; UPRT; 611153 XPA GENE; XPA; 611183 C3ORF10 GENE; C3ORF10; 611200 TUDOR DOMAIN-CONTAINING PROTEIN 6; TDRD6; 611201 KELCH-LIKE 9; KLHL9
Changed Entries:: 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2; 126380 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1; 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE; 133520 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4; 139300 AROMATASE EXCESS SYNDROME; AEXS; 144700 RENAL CELL CARCINOMA 1; RCC1; 147570 INTERFERON, GAMMA; IFNG; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1; 190930 TROPOMODULIN; TMOD; 191170 TUMOR PROTEIN p53; TP53; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 208900 ATAXIA-TELANGIECTASIA; AT; 243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD; 275350 TRANSCOBALAMIN II DEFICIENCY; 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600062 RAD23, YEAST, HOMOLOG OF, B; RAD23B; 600469 NUCLEAR CAP-BINDING PROTEIN 1; NCBP1; 600508 NCK ADAPTOR PROTEIN 1; NCK1; 600807 ASTHMA, SUSCEPTIBILITY TO; 601015 NPC2 GENE; NPC2; 601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11; 601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602938 BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE; BAAT; 603136 CULLIN 3; CUL3; 603404 ZINC FINGER PROTEIN 169; ZNF169; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 604215 INHIBITOR OF GROWTH 2; ING2; 604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK; 605035 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1; 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1; 605112 TROPOMODULIN 3; TMOD3; 605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7;; 605796 TUDOR DOMAIN-CONTAINING PROTEIN 1; TDRD1; 607625 NIEMANN-PICK DISEASE, TYPE C2; 607723 UNC84, C. ELEGANS, HOMOLOG OF, A; UNC84A; 607856 CINGULIN-LIKE 1; CGNL1; 608537 VHL GENE; VHL; 608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 610219 PEJVAKIN; 610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59; 610850 XPA-BINDING PROTEIN 2; XAB2; 611153 XPA GENE; XPA; 611183 C3ORF10 GENE; C3ORF10; 611201 KELCH-LIKE 9; KLHL9

July 11, 2007
New Entries:: 300654 FATTY ACID AMIDE HYDROLASE 2; FAAH2; 611195 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 1; JAKMIP1; 611196 ZING FINGER MIZ-DOMAIN CONTAINING 2; ZMIZ2; 611197 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 2; JAKMIP2; 611198 CHROMOSOME 10 OPEN READING FRAME 39; C10ORF39; 611199 DNTT-INTERACTING PROTEIN 2; DNTTIP2; Clinical Synopsis for 610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE
Changed Entries:: 139185 GROWTH ARREST-SPECIFIC 1; GAS1; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 167414 PAIRED BOX GENE 5; PAX5; 187410 DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL; DNTT; 241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE; 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV; 600013 TRANSCRIPTION FACTOR YY1; YY1; 600586 EPITHELIAL CELL TRANSFORMING SEQUENCE 2 ONCOGENE; ECT2; 601900 INTERFERON REGULATORY FACTOR 4; IRF4; 602098 POLO-LIKE KINASE 1; PLK1; 602617 FORKHEAD BOX E1; FOXE1; 603251 CYCLIN-DEPENDENT KINASE 9; CDK9; 606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2; 606994 ACTIVATED P21CDC42HS KINASE; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G; 607144 ASPARAGINE-LINKED GLYCOSYLATION 12, S. CEREVISIAE, HOMOLOG OF; ALG12; 607159 ZINC FINGER MIZ-DOMAIN CONTAINING 1; ZMIZ1; 607743 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2; FRS2; 608707 CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON; 609196 MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; MRAP; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 610104 MICRO RNA 125B1; MIRN125B1; 611195 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 1; JAKMIP1; 611196 ZING FINGER MIZ-DOMAIN CONTAINING 2; ZMIZ2

July 10, 2007
New Entries:: 611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2; 611184 FAMILY WITH SEQUENCE SIMILARITY 38, MEMBER A; FAM38A; 611186 MICRO RNA 9-1; MIRN9-1; 611187 MICRO RNA 9-2; MIRN9-2; 611188 MICRO RNA 9-3; MIRN9-3; 611189 MICRO RNA 197; MIRN197; 611190 MICRO RNA 346; MIRN346; 611191 MICRO RNA 125A; MIRN125A; 611192 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11; 611193 RIBOSOMAL RNA-PROCESSING 15, S. CEREVISIAE, HOMOLOG OF; RRP15; 611194 RUN AND FYVE DOMAIN-CONTAINING PROTEIN 3; RUFY3
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1; 164210 HEMIFACIAL MICROSOMIA; HFM; 164360 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, ALPHA SUBUNIT,; 191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3; 269160 SCHIZENCEPHALY; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 600938 RETINOBLASTOMA-BINDING PROTEIN 6; RBBP6; 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; 601656 GATA-BINDING PROTEIN 6; GATA6; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM; 603734 INTERFERON REGULATORY FACTOR 3; IRF3; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 604477 CHROMOBOX HOMOLOG 3; CBX3; 604478 CHROMOBOX HOMOLOG 5; CBX5; 604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3; 604511 CHROMOBOX HOMOLOG 1; CBX1; 604674 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 2; HEY2; 606416 NLR FAMILY, PYRIN-DOMAIN CONTAINING 3; NLRP3; 608390 MYOTONIA, POTASSIUM-AGGRAVATED; 608628 TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1; TBL1XR1; 609023 MYOFIBRILLOGENESIS REGULATOR 1; 610104 MICRO RNA 125B1; MIRN125B1; 610105 MICRO RNA 125B2; MIRN125B2; 610616 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 12; ANKRD12; 610653 RIBOSOMAL RNA-PROCESSING 1, S. CEREVISIAE, HOMOLOG OF; RRP1; 611131 RETINITIS PIGMENTOSA 37; 611166 TETRAPEPTIDE REPEAT HOMEOBOX 1; TPRX1; 611167 TETRAPEPTIDE REPEAT HOMEOBOX-LIKE; TPRXL; 611189 MICRO RNA 197; MIRN197; 611190 MICRO RNA 346; MIRN346

July 9, 2007
New Entries:: 611167 TETRA-PEPTIDE REPEAT HOMEOBOX-LIKE; TPRXL; 611177 INTRAFLAGELLAR TRANSPORT 80, CHLAMYDOMONAS, HOMOLOG OF; IFT80; 611178 GALANIN-LIKE PEPTIDE PRECURSOR; 611179 SHROOM FAMILY MEMBER 1; SHROOM1; 611180 NEGATIVE ELONGATION FACTOR POLYPEPTIDE B; 611181 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 10; ACAD10; 611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H
Changed Entries:: 111740 BLOOD GROUP--Ss LOCUS; Ss; 113705 BREAST CANCER 1 GENE; BRCA1; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 148050 KBG SYNDROME; 154040 RD RNA-BINDING PROTEIN; RDBP; 167055 OXYTOCIN RECEPTOR; OXTR; 176802 PROSTAGLANDIN E RECEPTOR 1, EP1 SUBTYPE; PTGER1; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 184429 SRY-BOX 2; SOX2; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; 300103 SHROOM FAMILY MEMBER 2; SHROOM2; 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED; 600444 SOLUTE CARRIER FAMILY 5 (INOSITOL TRANSPORTER), MEMBER 3; SLC5A3; 600938 RETINOBLASTOMA-BINDING PROTEIN 6; RBBP6; 601290 STRATIFIN; SFN; 602322 TELOMERASE RNA COMPONENT; TERC; 602589 FUCOSYLTRANSFERASE 8; FUT8; 603447 HARAKIRI; HRK; 604570 SHROOM FAMILY MEMBER 3; SHROOM3; 604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8; 605297 TH1-LIKE; TH1L; 606026 WOLF-HIRSCHHORN SYNDROME CANDIDATE 2; WHSC2; 606979 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8; COG8; 609795 PYROGLUTAMYLATED RF-AMIDE PEPTIDE PRECURSOR PROTEIN; QRFP; 610210 MAF1, S. CEREVISIAE, HOMOLOG OF; MAF1; 611124 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8; 611162 MALARIA, SUSCEPTIBILITY TO; 611167 TETRA-PEPTIDE REPEAT HOMEOBOX-LIKE; TPRXL; 611179 SHROOM FAMILY MEMBER 1; SHROOM1

July 6, 2007
New Entries:: 611173 MICRO RNA 375; MIRN375; 611174 HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION,; 611175 GTP-BINDING PROTEIN 9; GTPBP9; 611176 CHROMOSOME 14 OPEN READING FRAME 100; C14ORF100
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 108300 STICKLER SYNDROME, TYPE I; STL1; 120280 COLLAGEN, TYPE XI, ALPHA-1; COL11A1; 154780 MARSHALL SYNDROME; 162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B; 166710 OSTEOPOROSIS, INVOLUTIONAL; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 176803 PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS; 188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A; 214100 ZELLWEGER SYNDROME; ZS; 219000 FRASER SYNDROME; 251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY; 251100 METHYLMALONIC ACIDURIA, cblA TYPE; 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY; 252500 MUCOLIPIDOSIS II; 252600 MUCOLIPIDOSIS IIIA; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 606484 MYOTROPHIN; MTPN; 607830 FRAS1 GENE; FRAS1; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 608419 METHYLMALONYL-CoA EPIMERASE; MCEE; 609628 MAJEED SYNDROME; 609831 MMACHC GENE; 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB; 610937 RPGRIP1-LIKE; RPGRIP1L; 611116 MICRO RNA 208; MIRN208; 611154 ALZHEIMER DISEASE 14; AD14; 611162 MALARIA, SUSCEPTIBILITY TO; 611176 CHROMOSOME 14 OPEN READING FRAME 100; C14ORF100; Clinical Synopsis for 119300 VAN DER WOUDE SYNDROME; VWS; Clinical Synopsis for 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC

July 5, 2007
New Entries:: 611162 MALARIA, SUSCEPTIBILITY TO; 611169 CHROMOSOME 14 OPEN READING FRAME 161; C14ORF161; 611170 STERILE ALPHA MOTIF DOMAIN-CONTAINING 9-LIKE; SAMD9L; 611171 KIAA1598 GENE; KIAA1598; 611172 MICRO RNA 34A; MIRN34A
Changed Entries:: 100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1; 104620 AMINOACYLASE 1; ACY1; 107273 CD69 ANTIGEN; CD69; 107730 APOLIPOPROTEIN B; APOB; 107773 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 2; NR2F2; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 109730 AORTIC VALVE DISEASE; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 110750 BLOOD GROUP--GERBICH; Ge; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 120470 DELETED IN COLORECTAL CARCINOMA; DCC; 120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1; 137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN; 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 147421 INCLUSION BODY MYOSITIS; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 173510 CD36 ANTIGEN; CD36; 176300 TRANSTHYRETIN; TTR; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191160 TUMOR NECROSIS FACTOR; TNF; 241550 HYPOPLASTIC LEFT HEART SYNDROME; 245590 LARON SYNDROME, TYPE II; 248310 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL; 300451 ECTODYSPLASIN A; EDA; 600103 SYNAPTOTAGMIN 4; SYT4; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600726 INDIAN HEDGEHOG; IHH; 600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2; 600784 GRANZYME K; GZMK; 600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601626 LEUKEMIA, ACUTE MYELOID; AML; 602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B; 603730 SPHINGOSINE KINASE 1; SPHK1; 603903 SICKLE CELL ANEMIA; 604215 INHIBITOR OF GROWTH 2; ING2; 604283 PROTEOGLYCAN 4; PRG4; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 604811 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1; 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP; 607486 KNOPS BLOOD GROUP SYSTEM; KN; 607870 UNC5, C. ELEGANS, HOMOLOG OF, B; UNC5B; 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY; 608828 RIBONUCLEASE III, NUCLEAR; RNASEN; 608960 ADP-RIBOSYLATION FACTOR-LIKE 5; ARL5; 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8; 609148 MALARIA, MILD, SUSCEPTIBILITY TO; 609712 PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR; 610456 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9; SAMD9; 611162 MALARIA, SUSCEPTIBILITY TO; Clinical Synopsis for 175800 POROKERATOSIS OF MIBELLI

July 3, 2007
New Entries:: 611163 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; TOX2; 611164 ARGININE-FIFTY HOMEOBOX; ARGFX; 611165 DIVERGENT-PAIRED RELATED HOMEOBOX; DPRX; 611166 TETRA-PEPTIDE REPEAT HOMEOBOX 1; TPRX1; 611168 DOUBLE HOMEOBOX A; DUXA
Changed Entries:: 193245 VOLTAGE-DEPENDENT ANION CHANNEL 2; VDAC2; 300272 HISTONE DEACETYLASE 6; HDAC6; 300292 FORKHEAD BOX P3; FOXP3; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602912 INTEGRIN, BETA-4, BINDING PROTEIN OF; ITGB4BP; 604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 610029 VOLTAGE-DEPENDENT ANION CHANNEL 3; VDAC3; 610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A; 610512 SEC23, S. CEREVISIAE, HOMOLOG OF, B; SEC23B; 610955 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 3; TRAPPC3; 611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4; 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8; 611164 ARGININE-FIFTY HOMEOBOX; ARGFX

July 2, 2007
New Entries:: 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY; 611156 KIAA1815; 611157 CHROMOSOME 20 OPEN READING FRAME 20; C20ORF20; 611158 KERATIN 77; KRT77; 611159 KERATIN 78; KRT78; 611160 KERATIN 6-LIKE; KRT6L; 611161 KERATIN 80; KRT80; Clinical Synopsis for 610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; Clinical Synopsis for 611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY
Changed Entries:: 117143 CENTROMERIC PROTEIN E; CENPE; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 138210 GLUTAMATE PYRUVATE TRANSAMINASE 2; GPT2; 147183 RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA,; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 148020 KERATIN 19; KRT19; 148066 KERATIN 14; KRT14; 148067 KERATIN 16; KRT16; 148080 KERATIN 10; KRT10; 155735 MELANOMA ADHESION MOLECULE; MCAM; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 172270 PHOSPHOGLYCERATE KINASE 2; PGK2; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 236792 L-2-HYDROXYGLUTARIC ACIDURIA; 311800 PHOSPHOGLYCERATE KINASE 1; PGK1; 600607 VACUOLAR PROTEIN SORTING 72, YEAST, HOMOLOG OF; VPS72; 600763 TUMOR PROTEIN, TRANSLATIONALLY-CONTROLLED 1; TPT1; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 601034 MOVED TO 155735; 601293 RAS HOMOLOG ENRICHED IN BRAIN 2; RHEB2; 601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1; 602272 TRANSCRIPTION FACTOR 4; TCF4; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602470 PROSTATE STEM CELL ANTIGEN; PSCA; 604061 SEPTIN 9; SEPT9; 605185 DELTA-LIKE 4; DLL4; 606863 THYMOCYTE SELECTION-ASSOCIATED HIGH MOBILITY GROUP BOX; TOX; 607438 MOVED TO 138210; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 609584 L-2-HYDROXYGLUTARATE DEHYDROGENASE; L2HGDH; 611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY; Clinical Synopsis for 163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME; Clinical Synopsis for 171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA; Clinical Synopsis for 200980 ACRORENAL-MANDIBULAR SYNDROME; Clinical Synopsis for 204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3; Clinical Synopsis for 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4, AUTOSOMAL RECESSIVE; CLN4; Clinical Synopsis for 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2; Clinical Synopsis for 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA; Clinical Synopsis for 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1

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OMIM Update List for July, 2007

July 31, 2007

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