OMIM Update List for July, 2006

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Nucleotide

Protein

Genome

OMIM Update List for July, 2006

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July 31, 2006
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 116840 CATHEPSIN D; CTSD; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 138275 GLUTAMIC ACID DECARBOXYLASE 2; GAD2; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 182940 NEURAL TUBE DEFECTS; 190685 DOWN SYNDROME; 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1; 300293 MOVED TO 301410; 301410 NEURAL TUBE DEFECTS, X-LINKED; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A; 601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601397 T BRACHYURY, MOUSE, HOMOLOG OF; T; 601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; 602568 METHIONINE SYNTHASE REDUCTASE; MTRR; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1; 603496 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 2; DYRK2; 603497 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3; 604556 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B; 604887 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2; MTHFD2; 607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4; 609181 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 4; DYRK4; 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

July 28, 2006
New Entries:: 610284 LIPOYLTRANSFERASE 1; LIPT1; 610285 CHROMOSOME 4 OPEN READING FRAME 25; C4ORF25; 610286 LEUCINE CARBOXYL METHYLTRANSFERASE 1; LCMT1; 610287 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 15; FBXL15; 610288 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 6; GOLGA6
Changed Entries:: 103320 AGRIN; AGRN; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 126431 TOPOISOMERASE, DNA, II, BETA; TOP2B; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA; 601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK; 602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4; 603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS; 604479 SIRTUIN 1; SIRT1; 605034 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23, YEAST, HOMOLOG OF;; 607292 SEMAPHORIN 4A; SEMA4A; 607381 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 50, YEAST, HOMOLOG OF;; 607898 TRIBBLES, DROSOPHILA, HOMOLOG OF, 3; TRIB3; 608067 CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF; 608727 DE-ETIOLATED 1, ARABIDOPSIS, HOMOLOG OF; DET1; 608907 ALZHEIMER DISEASE 9; 609619 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 8B; GOLGA8B; 610279 PACHYGYRIA, FRONTOTEMPORAL; 610284 LIPOYLTRANSFERASE 1; LIPT1; 610285 CHROMOSOME 4 OPEN READING FRAME 25; C4ORF25; 610286 LEUCINE CARBOXYL METHYLTRANSFERASE 1; LCMT1; 610287 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 15; FBXL15; 610288 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 6; GOLGA6

July 27, 2006
New Entries:: 610281 ZINC FINGER PROTEIN 62; ZFP62; 610282 RETINITIS PIGMENTOSA 35; RP35; 610283 CONE-ROD DYSTROPHY 10; CORD10
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB; 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1; 312000 PANHYPOPITUITARISM; PHP; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 605549 CONE-ROD DYSTROPHY 8; CORD8; 605905 DCN1 DOMAIN-CONTAINING 1; DCUN1D1; 607292 SEMAPHORIN 4A; SEMA4A; 608193 REC8, S. POMBE, HOMOLOG OF; REC8L1; 609168 SHUGOSHIN-LIKE 1; SGOL1; 610281 ZINC FINGER PROTEIN 62; ZFP62

July 26, 2006
New Entries:: 610278 PLATELET ENDOTHELIAL AGGREGATION RECEPTOR 1; 610279 PACHYGYRIA, FRONTOTEMPORAL; 610280 OSTEOCRIN; OSTN
Changed Entries:: 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1; 114217 CALNEXIN; CANX; 116806 CATENIN, BETA-1; CTNNB1; 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1; 147570 INTERFERON, GAMMA; IFNG; 147680 INTERLEUKIN 2; IL2; 147760 INTERLEUKIN 1-ALPHA; IL1A; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 155550 SILVER, MOUSE, HOMOLOG OF; SILV; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 180901 RYANODINE RECEPTOR 1; RYR1; 185660 SURFEIT 4; SURF4; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC; 306190 MOVED TO 300200; 311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA; 601832 RIBOSOMAL PROTEIN L29; RPL29; 602003 LYMPHOID-RESTRICTED MEMBRANE PROTEIN; LRMP; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 602046 GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58; 602203 SARCOLIPIN; SLN; 603062 TRANS-GOLGI NETWORK PROTEIN, 46-KD; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 603564 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2; 604122 PHOSPHATIDYLINOSITOL GLYCAN, CLASS B; PIGB; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5; 604402 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 5; ST3GAL5; 604475 RETICULON 4; RTN4; 604992 SARCALUMENIN; SRL; 605248 MUCOLIPIN 1; MCOLN1; 606097 PHOSPHATIDYLINOSITOL GLYCAN, CLASS N; PIGN; 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2; 606250 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 606649 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3; 606804 GOLGI PHOSPHOPROTEIN 2; GOLPH2; 606805 GOLGI PHOSPHOPROTEIN 4; GOLPH4; 607619 FERM DOMAIN-CONTAINING 3; FRMD3; 607623 NPC1 GENE; NPC1; 607939 SULFATASE-MODIFYING FACTOR 1; SUMF1; 608058 ISLET-SPECIFIC GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; 608288 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 1; IGF2BP1; 608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7; 609134 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; UBR2; 609170 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 4; TXNDC4; 610036 CLAUDIN 19; CLDN19; 610275 PHOSPHATIDYLINOSITOL GLYCAN, CLASS W; PIGW; 610278 PLATELET ENDOTHELIAL AGGREGATION RECEPTOR 1; 610280 OSTEOCRIN; OSTN

July 25, 2006
New Entries:: 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A
Changed Entries:: 102200 ACROMEGALY; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 605555 ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A

July 24, 2006
Changed Entries:: 139250 GROWTH HORMONE 1; GH1; 161200 NAIL-PATELLA SYNDROME; NPS; 167410 PAIRED BOX GENE 7; PAX7; 188470 THYROID CARCINOMA, FOLLICULAR; FTC; 188550 THYROID CARCINOMA, PAPILLARY; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12; 607497 BETA-1,3-GLUCURONYLTRANSFERASE 2; B3GAT2

July 23, 2006
New Entries:: 610271 PHOSPHATIDYLINOSITOL GLYCAN, CLASS S; PIGS; 610272 PHOSPHATIDYLINOSITOL GLYCAN, CLASS T; PIGT; 610273 PHOSPHATIDYLINOSITOL GLYCAN, CLASS M; PIGM; 610274 PHOSPHATIDYLINOSITOL GLYCAN, CLASS V; PIGV; 610275 PHOSPHATIDYLINOSITOL GLYCAN, CLASS W; PIGW; 610276 PHOSPHATIDYLINOSITOL GLYCAN, CLASS X; PIGX
Changed Entries:: 603048 GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR ATTACHMENT PROTEIN 1; GPAA1; 605087 PHOSPHATIDYLINOSITOL GLYCAN, CLASS K; PIGK; 610184 MONOACYLGLYCEROL O-ACYLTRANSFERASE 3; MOGAT3; 610271 PHOSPHATIDYLINOSITOL GLYCAN, CLASS S; PIGS; 610273 PHOSPHATIDYLINOSITOL GLYCAN, CLASS M; PIGM; 610275 PHOSPHATIDYLINOSITOL GLYCAN, CLASS W; PIGW; 610276 PHOSPHATIDYLINOSITOL GLYCAN, CLASS X; PIGX

July 22, 2006
New Entries:: 610267 METHIONINE AMINOPEPTIDASE 1D; 610268 MONOACYLGLYCEROL O-ACYLTRANSFERASE 1; MOGAT1; 610269 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2; 610270 MONOACYLGLYCEROL O-ACYLTRANSFERASE 2; MOGAT2
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 157129 MICROTUBULE-ASSOCIATED PROTEIN 1B; MAP1B; 601870 METHIONINE AMINOPEPTIDASE 2; METAP2; 604900 DIACYLGLYCEROL O-ACYLTRANSFERASE 1; DGAT1; 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1; 607001 EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1; 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1; 610184 MONOACYLGLYCEROL O-ACYLTRANSFERASE 3; MOGAT3; 610267 METHIONINE AMINOPEPTIDASE 1D; 610268 MONOACYLGLYCEROL O-ACYLTRANSFERASE 1; MOGAT1; 610270 MONOACYLGLYCEROL O-ACYLTRANSFERASE 2; MOGAT2

July 21, 2006
New Entries:: 610239 HIGH DENSITY LIPOPROTEIN CHOLESTEROL QUANTITATIVE TRAIT LOCUS 4
Changed Entries:: 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 113810 DYSTONIN; DST; 120900 COMPLEMENT COMPONENT 5; C5; 134370 COMPLEMENT FACTOR H; CFH; 139250 GROWTH HORMONE 1; GH1; 139605 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1; 143470 HYPERALPHALIPOPROTEINEMIA; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL; 176450 CURRARINO SYNDROME; 235200 HEMOCHROMATOSIS; HFE; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600088 MOVED TO 113180; 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE; 600946 GROWTH HORMONE RECEPTOR; GHR; 601028 CD47 ANTIGEN; CD47; 602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2; 603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1; 604017 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6;; 604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY; 605170 ETOPOSIDE-INDUCED 1.4 mRNA; EI24; 605171 TUMOR PROTEIN p53-INDUCIBLE PROTEIN 3; TP53I3; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605636 MATERNALLY EXPRESSED GENE 3; MEG3; 606168 DEAD/H BOX 20; DDX20; 607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 607425 GAP JUNCTION PROTEIN, CHI-1; GJC1; 607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL QUANTITATIVE TRAIT LOCUS 3; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, COMPLEMENTATION GROUP 6; ERCC6

July 20, 2006
New Entries:: 610266 TAO KINASE 1; TAOK1
Changed Entries:: 156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR; 182125 SEPIAPTERIN REDUCTASE; SPR; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 203310 ALBINISM, OCULAR, AUTOSOMAL RECESSIVE; OAR; 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY; 602568 METHIONINE SYNTHASE REDUCTASE; MTRR; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 606352 ALSIN; 607826 S-ADENOSYLHOMOCYSTEINE HYDROLASE-LIKE 1; AHCYL1; 608419 METHYLMALONYL-CoA EPIMERASE; MCEE; 610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67

July 19, 2006
New Entries:: 610264 TESTIS-PROSTATE-PLACENTA-EXPRESSED PROTEIN; 610265 DEAFNESS, AUTOSOMAL RECESSIVE 67
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104620 AMINOACYLASE 1; ACY1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 114480 BREAST CANCER; 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 146690 IMP DEHYDROGENASE 1; IMPDH1; 160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT; 160993 N-MYRISTOYLTRANSFERASE 1; NMT1; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1; 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; 255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE; 300100 ADRENOLEUKODYSTROPHY; ALD; 311800 PHOSPHOGLYCERATE KINASE 1; PGK1; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600188 AMINO-TERMINAL ENHANCER OF SPLIT; AES; 600189 TRANSDUCIN-LIKE ENHANCER OF SPLIT 1; TLE1; 600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 601367 STROKE, ISCHEMIC; 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601870 METHIONINE AMINOPEPTIDASE 2; METAP2; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603500 TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN;; 603567 PROTEIN INHIBITOR OF ACTIVATED STAT2; PIAS2; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 603730 SPHINGOSINE KINASE 1; SPHK1; 604580 FIBULIN 5; FBLN5; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 606116 RIBONUCLEASE P/MRP, 38-KD SUBUNIT; RPP38; 606117 RIBONUCLEASE P, 40-KD SUBUNIT; RPP40; 606897 LYSOSOMAL TRAFFICKING REGULATOR; LYST; 607331 RETINITIS PIGMENTOSA 9 GENE; RP9; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608513 RIBONUCLEASE P, RNA COMPONENT H1; RPPH1; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609427 LHFP-LIKE PROTEIN 5; LHFPL5; 609924 AMINOACYLASE 1 DEFICIENCY; 610231 POLYCOMB GROUP RING FINGER PROTEIN 1; PCGF1; 610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2; 610264 TESTIS-PROSTATE-PLACENTA-EXPRESSED PROTEIN

July 18, 2006
New Entries:: 300609 MALE-SPECIFIC LETHAL 3-LIKE 1; MSL3L1; 300610 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRPH2; 610261 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5; 610262 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6; 610263 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY B, MEMBER 13; DNAJB13
Changed Entries:: 104310 ALZHEIMER DISEASE 2; 106210 ANIRIDIA, TYPE II; AN2; 107741 APOLIPOPROTEIN E; APOE; 114120 MOVED TO 211900; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 142780 H3 HISTONE, FAMILY 2; H3F2; 145500 HYPERTENSION, ESSENTIAL; 152430 LONGEVITY; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 192090 CADHERIN 1; CDH1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 210300 MOVED TO 201300; 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP; 227100 MOVED TO 120900; 227660 MOVED TO 300514; 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 243095 MOVED TO 270450; 253850 MOVED TO 602771; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 264450 MOVED TO 190685; 265380 PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 300256 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2; 305425 FARNESYL DIPHOSPHATE SYNTHASE-LIKE 5; FDPSL5; 600288 FORKHEAD BOX A2; FOXA2; 601036 MOVED TO 300610; 601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH; 601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 602544 PARKIN; PARK2; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5; 604444 BMP AND ACTIVIN MEMBRANE-BOUND INHIBITOR, XENOPUS, HOMOLOG OF; BAMBI; 604880 MOVED TO 300609; 605089 MITOCHONDRIAL RIBOSOMAL PROTEIN L40; MRPL40; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 606356 TRANSMEMBRANE PROTEIN 123; TMEM123; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28; 609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4; 610230 tRNA 5-METHYLAMINOMETHYL-2-THIOURIDYLATE METHYLTRANSFERASE; TRMU; 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33; 610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31; 610258 SEC31-LIKE 2; SEC31L2; Clinical Synopsis for 162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA

July 17, 2006
New Entries:: 610259 NARCOLEPSY CANDIDATE REGION GENE 1A; 610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1
Changed Entries:: 117360 SPINOCEREBELLAR ATAXIA 30; 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 161400 NARCOLEPSY 1; NRCLP1; 179010 PYLORIC STENOSIS, INFANTILE; 181500 SCHIZOPHRENIA; SCZD; 213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2; 265430 PULMONARY HYPOPLASIA, PRIMARY; 271250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3; 300607 HYPEREKPLEXIA AND EPILEPSY; 301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3; 301840 SPINOCEREBELLAR ATAXIA, X-LINKED 4; 302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1; 302600 SPINOCEREBELLAR ATAXIA, X-LINKED 2; 312865 SHORT STATURE HOMEOBOX; SHOX; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600274 FRONTOTEMPORAL DEMENTIA; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601509 GAMMA-GLUTAMYL HYDROLASE; GGH; 606937 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2; 608029 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6; 608395 KARAK SYNDROME; 609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7; 609814 COMPLEMENT FACTOR H DEFICIENCY; 610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 610230 tRNA 5-METHYLAMINOMETHYL-2-THIOURIDYLATE METHYLTRANSFERASE; TRMU; 610259 NARCOLEPSY CANDIDATE REGION GENE 1A; 610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; Clinical Synopsis for 105830 ANGELMAN SYNDROME; AS; Clinical Synopsis for 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

July 14, 2006
New Entries:: 610245 SPINOCEREBELLAR ATAXIA 23; SCA23; 610246 SPINOCEREBELLAR ATAXIA 28; SCA28; 610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65; 610257 SEC31-LIKE 1; SEC31L1; 610258 SEC31-LIKE 2; SEC31L2
Changed Entries:: 105830 ANGELMAN SYNDROME; AS; 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 203450 ALEXANDER DISEASE; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 309530 MENTAL RETARDATION, X-LINKED 1; MRX1; 602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2; 604215 INHIBITOR OF GROWTH 2; ING2; 604774 ANGIOPOIETIN-LIKE 3; ANGPTL3; 605001 ANGIOPOIETIN-LIKE 2; ANGPTL2; 605386 MICRO RNA LET7A1; MIRNLET7A1; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2; 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO; 608516 MAJOR DEPRESSIVE DISORDER; MDD; Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1; Clinical Synopsis for 203450 ALEXANDER DISEASE; Clinical Synopsis for 263300 POLYCYTHEMIA VERA

July 13, 2006
New Entries:: 610234 SYNPOLYDACTYLY 3; 610252 MICRO RNA 1-2; MIRN1-2; 610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME; 610254 MICRO RNA 133A1; MIRN133A1; 610255 MICRO RNA 133A2; MIRN133A2; 610256 APHAKIA, CONGENITAL PRIMARY
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 117210 SPINOCEREBELLAR ATAXIA, 16q22-LINKED; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 135820 FIBULIN 1; FBLN1; 142989 HOMEOBOX D13; HOXD13; 147791 JACOBSEN SYNDROME; JBS; 153550 CHROMOSOME 5q DELETION SYNDROME; 156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR; 159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1; 159980 MYOGENIC FACTOR 4; MYOG; 176640 PRION PROTEIN; PRNP; 186000 SYNPOLYDACTYLY 1; SPD1; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1; 300578 CHROMOSOME Xp11.3 DELETION SYNDROME; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2; 601094 FORKHEAD BOX E3; FOXE3; 601922 ANGIOPOIETIN 2; ANGPT2; 603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4; 605046 UBIQUILIN 1; UBQLN1; 606407 HYPOTONIA-CYSTINURIA SYNDROME; 606785 CRIGLER-NAJJAR SYNDROME, TYPE II; 607001 EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607872 MONOSOMY 1p36 SYNDROME; 608180 SYNPOLYDACTYLY 2; SPD2; 609326 MICRO RNA 1-1; MIRN1-1; 609346 RECEPTOR EXPRESSION-ENHANCING PROTEIN 6; REEP6; 609347 RECEPTOR EXPRESSION-ENHANCING PROTEIN 2; REEP2; 609348 RECEPTOR EXPRESSION-ENHANCING PROTEIN 3; REEP3; 609349 RECEPTOR EXPRESSION-ENHANCING PROTEIN 4; REEP4; 609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA; 609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;; 610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31; 610252 MICRO RNA 1-2; MIRN1-2; 610254 MICRO RNA 133A1; MIRN133A1; 610255 MICRO RNA 133A2; MIRN133A2

July 12, 2006
New Entries:: 610247 ESOPHAGITIS, EOSINOPHILIC; 610249 PROTEIN O-FUCOSYLTRANSFERASE 2; POFUT2; 610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31
Changed Entries:: 100730 CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE; CHRNG; 103950 ALPHA-2-MACROGLOBULIN; A2M; 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; 601268 CHEMOKINE, CC MOTIF, RECEPTOR 3; CCR3; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 604697 CHEMOKINE, CC MOTIF, LIGAND 26; CCL26; 605014 SYNTAXIN 11; STX11; 607109 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3A;; 607110 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B;; 609139 RECEPTOR EXPRESSION-ENHANCING PROTEIN 1; REEP1; 609339 MOVED TO 265000; 610235 MITOCHONDRIAL PROTEIN, 18-KD

July 11, 2006
New Entries:: 610241 RING FINGER PROTEIN 32; RNF32; 610242 CHROMOSOME 7 OPEN READING FRAME 13; C7ORF13; 610243 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27; 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33
Changed Entries:: 129400 RAPP-HODGKIN SYNDROME; RHS; 139312 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE,; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 181500 SCHIZOPHRENIA; SCZD; 182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC; 182131 5-@HYDROXYTRYPTAMINE RECEPTOR 1B; HTR1B; 184420 FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1; 191306 KINASE INSERT DOMAIN RECEPTOR; KDR; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 300390 CHM GENE; CHM; 303100 CHOROIDEREMIA; CHM; 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600644 POLIOVIRUS RECEPTOR-LIKE 1; PVRL1; 600757 OROFACIAL CLEFT 3; OFC3; 600909 LANOSTEROL SYNTHASE; LSS; 601038 DEIODINASE, IODOTHYRONINE, TYPE III; DIO3; 602046 GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603328 MUSASHI, DROSOPHILA, HOMOLOG OF, 1; MSI1; 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1; 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15; 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13; 604783 CLEFT LIP- AND PALATE-ASSOCIATED TRANSMEMBRANE PROTEIN 1; CLPTM1; 605072 RGS19-INTERACTING PROTEIN 1; RGS19IP1; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 608578 CEREBROFRONTOFACIAL SYNDROME; 610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24; 610243 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27; 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33; Clinical Synopsis for 149400 HYPEREKPLEXIA, HEREDITARY; Clinical Synopsis for 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; Clinical Synopsis for 300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE; Clinical Synopsis for 607371 DYSTONIA, JUVENILE-ONSET; Clinical Synopsis for 607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE

July 10, 2006
New Entries:: 610235 MITOCHONDRIAL PROTEIN, 18-KD; 610236 LUNAPARK; 610237 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 6; THRAP6; 610238 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 11;; 610240 LHFP-LIKE PROTEIN 4; LHFPL4
Changed Entries:: 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 126450 DOPAMINE RECEPTOR D2; DRD2; 130660 ELASTIN MICROFIBRIL INTERFACER 1; EMILIN1; 139312 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE,; 142445 NEUREGULIN 1; NRG1; 142952 HOMEOBOX A5; HOXA5; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 150341 LAMIN B2; LMNB2; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 181500 SCHIZOPHRENIA; SCZD; 191170 TUMOR PROTEIN p53; TP53; 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND; 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; 300017 FILAMIN A; FLNA; 300353 V-SET- AND IMMUNOGLOBULIN DOMAIN-CONTAINING PROTEIN 4; VSIG4; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A; 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF; 601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A; 601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST; 601849 MOVED TO 228930; 602122 SIGNAL RECOGNITION PARTICLE, 72-KD; SRP72; 603013 SCHIZOPHRENIA 6; SCZD6; 603206 SCHIZOPHRENIA 8; SCZD8; 604898 PREFOLDIN 4; PFDN4; 606236 ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPSCR1; 607257 SRY-BOX 6; SOX6; 608709 BARRAQUER-SIMONS SYNDROME; 610237 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 6; THRAP6; Clinical Synopsis for 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

July 7, 2006
New Entries:: 610222 RAS AND RAB INTERACTOR 2; RIN2; 610223 RAS AND RAB INTERACTOR 3; RIN3
Changed Entries:: 103100 ADIE PUPIL; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 136850 FUMARATE HYDRATASE; FH; 141250 HEME OXYGENASE 1; HMOX1; 159440 MYELIN PROTEIN ZERO; MPZ; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 180250 RETINOL-BINDING PROTEIN 4; RBP4; 182880 SPERM PROTAMINE P1; PRM1; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 236100 HOLOPROSENCEPHALY; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A; 600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 601695 CASEIN, KAPPA; CSN10; 601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1; 604906 SCHIZOPHRENIA 9; SCZD9; 605380 FIBROBLAST GROWTH FACTOR 23; FGF23; 606446 SLAM FAMILY, MEMBER 6; SLAMF6; 606853 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 2;; 606939 ATPasE, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM; 607027 ATPase, H+ TRANSPORTING, LYSOSOMAL ALPHA POLYPEPTIDE, 70-KD, ISOFORM; 607028 ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 1;; 607296 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 1;; 607414 ZINC FINGER PROTEIN 312; ZNF312; 607502 DISPATCHED, DROSOPHILA, HOMOLOG OF, 1; DISP1; 607503 DISPATCHED, DROSOPHILA, HOMOLOG OF, 2; DISP2; 607686 FIP1-LIKE 1; FIP1L1; 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; 609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8; 610216 TRANSMEMBRANE PROTEIN 16H; TMEM16H; 610222 RAS AND RAB INTERACTOR 2; RIN2; 610232 ATPase, TYPE 13A3; ATP13A3

July 6, 2006
New Entries:: 610231 POLYCOMB GROUP RING FINGER PROTEIN 1; PCGF1; 610232 ATPase, TYPE 13A3; ATP13A3
Changed Entries:: 109565 B-CELL LYMPHOMA 6; BCL6; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 113705 BREAST CANCER 1 GENE; BRCA1; 117210 SPINOCEREBELLAR ATAXIA, 16q22-LINKED; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 123740 CRYSTALLIN, MU; CRYM; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164600 MOVED TO 164400; 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 192090 CADHERIN 1; CDH1; 214800 CHARGE SYNDROME; 256100 NEPHRONOPHTHISIS 1; NPHP1; 258300 OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE; 300455 RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; 305371 GATA-BINDING PROTEIN 1; GATA1; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; 603148 ACTIVATING TRANSCRIPTION FACTOR 3; ATF3; 603149 INTERLEUKIN 17; IL17; 606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1; 608629 JOUBERT SYNDROME 3; JBTS3; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1; 609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;; 609583 JOUBERT SYNDROME 4; JBTS4; 609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 610231 POLYCOMB GROUP RING FINGER PROTEIN 1; PCGF1

July 5, 2006
New Entries:: 300607 HYPEREKPLEXIA AND EPILEPSY; 300608 DACHSHUND, DROSOPHILA, HOMOLOG OF, 2; DACH2; 610221 AKT1 SUBSTRATE 1, PROLINE-RICH; AKT1S1; 610228 CALPAIN 13; CAPN13; 610229 CALPAIN 14; CAPN14; 610230 tRNA 5-METHYLAMINOMETHYL-2-THIOURIDYLATE METHYLTRANSFERASE; TRMU
Changed Entries:: 133430 ESTROGEN RECEPTOR 1; ESR1; 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E; 149400 HYPEREKPLEXIA, HEREDITARY; 150330 LAMIN A/C; LMNA; 164160 LEPTIN; LEP; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 176930 COAGULATION FACTOR II; F2; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA; 219080 CUSHING DISEASE, ADRENAL; 227650 FANCONI ANEMIA; FA; 260400 SHWACHMAN-DIAMOND SYNDROME; SDS; 300429 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9; 300607 HYPEREKPLEXIA AND EPILEPSY; 600013 TRANSCRIPTION FACTOR YY1; YY1; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 603680 SCA8 GENE; SCA8; 603761 RAD9, S. POMBE, HOMOLOG OF, A; RAD9A; 603803 DACHSHUND, DROSOPHILA, HOMOLOG OF, 1; DACH1; 603930 GEPHYRIN; GPH; 604159 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER; 604961 PHOSPHODIESTERASE 11A; PDE11A; 608383 DIHYDROPYRIMIDINASE-LIKE 5; DPYSL5

July 3, 2006
Changed Entries:: 610122 5-@HYDROXYTRYPTAMINE RECEPTOR 3, SUBUNIT D; HTR3D; Clinical Synopsis for 263300 POLYCYTHEMIA VERA; Clinical Synopsis for 263400 ERYTHROCYTOSIS, FAMILIAL, 2; Clinical Synopsis for 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C

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