OMIM Update List for April, 2002

PubMed

Nucleotide

Protein

Genome

OMIM Update List for April, 2002

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April 30, 2002
New Entries:: 300391 AMELOGENIN; AMELX; 606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS; 606892 SYNTAXIN 12; STX12; 606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS; 606894 DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND; 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED; 606896 DYSLEXIA, SPECIFIC, 5; DYX5
Changed Entries:: 104510 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIC TYPE, WITH TAURODONTISM;; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138251 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, ASSOCIATED PROTEIN;; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 138254 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2C;; 140300 HASHIMOTO STRUMA; 142410 TRANSCRIPTION FACTOR 1; TCF1; 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA; 146630 INTERCELLULAR ADHESION MOLECULE 2; ICAM2; 147280 INSULIN-LIKE GROWTH FACTOR II RECEPTOR; IGF2R; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147640 INTERFERON, BETA-1; IFNB1; 150370 LAMININ RECEPTOR 1; LAMR1; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 187410 TERMINAL DEOXYNUCLEOTIDYLTRANSFERASE; TDT; 191170 TUMOR PROTEIN p53; TP53; 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM; 201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF; 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; 243600 JEJUNAL ATRESIA; 300391 AMELOGENIN; AMELX; 301200 AMELOGENESIS IMPERFECTA 1, HYPOPLASTIC TYPE; AIH1; 302910 CHLORIDE CHANNEL 4; CLCN4; 312170 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1; 314240 TOOTH SIZE; 410000 AMELOGENIN, Y-CHROMOSOMAL; AMELY; 600301 ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600900 SARCOGLYCAN, BETA; SGCB; 601259 AMELOBLASTIN ENAMEL MATRIX PROTEIN; AMBN; 601434 S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A; 601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 602069 NEUROPILIN 1; NRP1; 602473 ENCEPHALOPATHY, ETHYLMALONIC; 602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602717 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2D;; 603134 CULLIN 1; CUL1; 603526 METASTASIS-ASSOCIATED GENE 1; MTA1; 603814 RING-BOX 1; RBX1; 604202 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29; 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E; 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES; 604616 T-BOX, BRAIN, 1; TBR1; 604629 MATRIX METALLOPROTEINASE 20; MMP20; 604762 SWITCH-ASSOCIATED PROTEIN 70; 604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8; 604906 SCHIZOPHRENIA 9; SCZD9; 605877 IMMUNOGLOBULIN SUPERFAMILY RECEPTOR TRANSLOCATION-ASSOCIATED GENE; 605888 EH DOMAIN-CONTAINING 1; EHD1; 606585 ENAMELIN; ENAM; 606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR; 606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS

April 29, 2002
New Entries:: 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 606891 Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS
Changed Entries:: 117700 CERULOPLASMIN; CP; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 156350 METALLOTHIONEIN 1A; MT1A; 171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 1; PIK3R1; 186845 CD81 ANTIGEN; CD81; 187500 TETRALOGY OF FALLOT; 191045 TROPONIN T2, CARDIAC; TNNT2; 277900 WILSON DISEASE; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 300029 RETINITIS PIGMENTOSA 15; RP15; 304020 CONE DYSTROPHY, X-LINKED, 1; COD1; 309400 MENKES SYNDROME; 600058 PROTEIN TYROSINE KINASE TXK; TXK; 600065 INTEGRIN, BETA-2; ITGB2; 600148 GLYCEROL KINASE, TESTICULAR, TYPE A; 600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A; 600584 CARDIAC-SPECIFIC HOMEO BOX; CSX; 601179 RAS-RELATED NUCLEAR PROTEIN; RAN; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D; 602030 FUCOSYLTRANSFERASE 7; FUT7; 602095 SOLUTE CARRIER FAMILY 30, MEMBER 4; SLC30A4; 603085 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 1; SLC31A1; 603580 PROTOCADHERIN 8; PCDH8; 605149 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 13; SCYB13; 605608 CLAUDIN 14; CLDN14; 605705 SNF1-LIKE KINASE; SNF1LK; 605706 ANKYRIN REPEAT DOMAIN 3; ANKRD3; 605721 JUNCTION ADHESION MOLECULE 1; JAM1; 605813 NUCLEAR TRANSPORT FACTOR 2; 606880 CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2

April 29, 2002
New Entries:: 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; 606829 FRDA GENE; FRDA; 606884 RNA-BINDING MOTIF PROTEIN 5; RBM5; 606886 RNA-BINDING MOTIF PROTEIN 6; RBM6; 606888 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 6; CHRNA6
Changed Entries:: 118502 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2; 119300 VAN DER WOUDE SYNDROME; VWS; 147575 INTERFERON REGULATORY FACTOR 1; IRF1; 147576 INTERFERON REGULATORY FACTOR 2; IRF2; 158350 COWDEN DISEASE; CD; 188550 THYROID CARCINOMA, PAPILLARY; 191045 TROPONIN T2, CARDIAC; TNNT2; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1; 212080 CARDIAC LIPIDOSIS, FAMILIAL; 229300 FRIEDREICH ATAXIA 1; FRDA; 237900 HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; 261600 PHENYLKETONURIA; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300055 MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM; 516020 CYTOCHROME b OF COMPLEX III; MTCYB; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600866 PROGRAMMED CELL DEATH 2; PDCD2; 601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT; 601250 PEPTIDE METHIONINE SULFOXIDE REDUCTASE; MSRA; 601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D; 601565 INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1; ICSBP1; 601992 FRIEDREICH ATAXIA 2; 602745 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, BETA; PIP5K1B; 604547 VAN DER WOUDE SYNDROME MODIFIER; 604943 PRESTIN; PRES; 606053 PHRASE SPEECH DELAY, AUTISM-RELATED

April 25, 2002
New Entries:: 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH; 606879 PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH; 606881 FORMIN HOMOLOGY 2 DOMAIN-CONTAINING 1; FHOD1; 606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4
Changed Entries:: 106100 ANGIOEDEMA, HEREDITARY; HAE; 107400 PROTEASE INHIBITOR 1; PI; 113705 BREAST CANCER, TYPE 1; BRCA1; 118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1; 120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF; 130190 ELECTROENCEPHALOGRAPHIC PATTERNS; EEG; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 134770 FERRITIN HEAVY CHAIN 1; FTH1; 134797 FIBRILLIN 1; FBN1; 135300 FIBROMATOSIS, GINGIVAL, 1; GINGF; 137190 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-1; GABRB1; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD2; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 160900 DYSTROPHIA MYOTONICA 1; 167040 OXYSTEROL-BINDING PROTEIN; OSBP; 174900 POLYPOSIS, JUVENILE INTESTINAL; 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA; 180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1; 182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1; 188530 THYROTROPIN, ALPHA CHAIN; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 235730 HIRSCHSPRUNG DISEASE SYNDROME; 300171 MYOTUBULARIN-RELATED PROTEIN 1; MTMR1; 300268 ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1-INHIBITOR CONCENTRATION; 301500 FABRY DISEASE; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 307030 HYPERGLYCEROLEMIA; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600501 ABCD SYNDROME; 600521 MANNAN-BINDING LECTIN SERINE PROTEASE 1; MASP1; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 601663 ESTROGEN RECEPTOR 2; ESR2; 601697 PROTEASE INHIBITOR 8, OVALBUMIN TYPE; PI8; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8; 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; 602069 NEUROPILIN 1; NRP1; 602070 NEUROPILIN 2; NRP2; 602621 COXSACKIE VIRUS AND ADENOVIRUS RECEPTOR; CXADR; 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; MADH7; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE; SGK; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; MADH3; 603494 NNX3 PROTEIN; 604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1; 605382 MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE; 605440 ATAXIN-1 UBIQUITIN-LIKE INTERACTING PROTEIN; 605802 ZINC FINGER HOMEO BOX 1B; ZFHX1B; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606798 BLEPHAROSPASM, BENIGN ESSENTIAL; 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH; 606865 FUCOSYLTRANSFERASE 9; FUT9; 606877 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C; 606878 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER D; ANP32D; 606881 FORMIN HOMOLOGY 2 DOMAIN-CONTAINING 1; FHOD1; Clinical Synopsis for 265000 PTERYGIUM SYNDROME; Clinical Synopsis for 274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME; Clinical Synopsis for 304120 CRANIOORODIGITAL SYNDROME; Clinical Synopsis for 311300 OTOPALATODIGITAL SYNDROME

April 24, 2002
New Entries:: 606866 MITOCHONDRIAL RIBOSOMAL PROTEIN L49; MRPL49; 606867 GOLGI PHOSPHOPROTEIN 5; GOLPH5; 606874 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 2; 606875 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 3; 606876 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, BETA; PITPNB; 606877 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C; 606878 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER D; ANP32D; 606880 CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2
Changed Entries:: 130700 EMPHYSEMA, HEREDITARY PULMONARY; 142623 HIRSCHSPRUNG DISEASE; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 164761 RET PROTOONCOGENE; RET; 176977 PROTEIN KINASE C, DELTA; PRKCD; 188410 THYMOCYTE ANTIGEN CD1D; CD1D; 300101 BONE MARROW KINASE, X-LINKED; BMX; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600174 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN; PITPN; 600956 ANTI-MULLERIAN HORMONE TYPE II RECEPTOR; AMHR2; 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1; 602239 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 1; CYP26A1; 603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2; 604274 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1; 606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4; 606867 GOLGI PHOSPHOPROTEIN 5; GOLPH5; 606877 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C

April 23, 2002
New Entries:: 606870 JUNCTIONAL ADHESION MOLECULE 2; JAM2; 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3; 606872 HAKAI, MOUSE, HOMOLOG OF
Changed Entries:: 152430 LONGEVITY; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A; 300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4; 502000 AGING; 603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR; 604824 KLOTHO; KL; Clinical Synopsis for 274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME; Clinical Synopsis for 303600 COFFIN-LOWRY SYNDROME; CLS

April 22, 2002
New Entries:: 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2
Changed Entries:: 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 605721 JUNCTION ADHESION MOLECULE 1; JAM1; 605728 CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES

April 19, 2002
New Entries:: 606847 TCOF1 GENE; 606865 FUCOSYLTRANSFERASE 9; FUT9
Changed Entries:: 104230 FUCOSYLTRANSFERASE 4; FUT4; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107741 APOLIPOPROTEIN E; APOE; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 129190 NUCLEOTIDASE, ECTO-5-PRIME; NT5E; 131340 PRODYNORPHIN; PDYN; 131530 EPIDERMAL GROWTH FACTOR; EGF; 143030 CD9 ANTIGEN; CD9; 150330 LAMIN A/C; LMNA; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF; 155720 MELANOMA, UVEAL; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 168600 PARKINSON DISEASE; PD; 168820 PARAOXONASE 1; PON1; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 177900 PSORIASIS SUSCEPTIBILITY; 194072 WAGR SYNDROME; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 222600 DIASTROPHIC DYSPLASIA; 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; 235200 HEMOCHROMATOSIS; HFE; 236250 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 300029 RETINITIS PIGMENTOSA 15; RP15; 300121 DOUBLECORTIN; DCX; 304020 CONE DYSTROPHY, X-LINKED, 1; COD1; 309350 MELNICK-NEEDLES OSTEODYSPLASTY; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600417 NUCLEOTIDASE, 5-PRIME, CYTOSOLIC II, NT5C2; 600746 CAUDAL-TYPE HOMEO BOX TRANSCRIPTION FACTOR 1; CDX1; 601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602724 PEANUT-LIKE 1; PNUTL1; 603566 PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1; 604447 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5; 605588 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1; 606224 NUCLEOTIDASE, 5-PRIME, CYTOSOLIC III; NT5C3; 606655 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8; 606746 INTERLEUKIN 27; IL27

April 18, 2002
New Entries:: 606862 OSTEOCLAST-ASSOCIATED RECEPTOR; 606863 THYMUS HIGH MOBILITY GROUP BOX PROTEIN, MOUSE, HOMOLOG OF; 606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
Changed Entries:: 109770 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1; 148067 KERATIN 16; KRT16; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 180100 RETINITIS PIGMENTOSA 1; RP1; 184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1; 191010 TROPOMYOSIN 1; TPM1; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 300041 GUANYLYL CYCLASE 2F, RETINAL; GUCY2F; 300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2; 300155 RETINITIS PIGMENTOSA 24; RP24; 300187 SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX; 300302 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE; TCTE1L; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 312600 RETINITIS PIGMENTOSA 2; RP2; 312612 RETINITIS PIGMENTOSA 6; RP6; 313500 OLIGODONTIA 1; ODT1; 600481 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2; 600962 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK; 601144 BRUGADA SYNDROME; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I; 602357 WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; WASPIP; 602724 PEANUT-LIKE 1; PNUTL1; 603696 PEANUT-LIKE 2; PNUTL2; 604680 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 3; PABPC3; 606851 CREE MENTAL RETARDATION SYNDROME; 606863 THYMUS HIGH MOBILITY GROUP BOX PROTEIN, MOUSE, HOMOLOG OF; Clinical Synopsis for 101400 SAETHRE-CHOTZEN SYNDROME; SCS; Clinical Synopsis for 147791 JACOBSEN SYNDROME; JBS; Clinical Synopsis for 180500 RIEGER SYNDROME, TYPE 1; RIEG1; Clinical Synopsis for 194190 WOLF-HIRSCHHORN SYNDROME; WHS; Clinical Synopsis for 231300 GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A; Clinical Synopsis for 313500 OLIGODONTIA 1; ODT1

April 17, 2002
New Entries:: 300389 RETINITIS PIGMENTOSA 3; RP3; 606857 GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC; 606861 PROSTATE- AND TESTIS-EXPRESSED GENE
Changed Entries:: 114080 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV; CAMK4; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138251 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, ASSOCIATED PROTEIN;; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 138254 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2C;; 143100 HUNTINGTON DISEASE; HD; 147370 INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R; 147671 INSULIN RECEPTOR-RELATED RECEPTOR; INSRR; 155720 MELANOMA, UVEAL; 158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1; 172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF; 180902 RYANODINE RECEPTOR 2; RYR2; 182396 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY),; 188060 THROMBOSPONDIN I; THBS1; 188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE; 260005 5-@OXOPROLINASE DEFICIENCY; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 600725 SONIC HEDGEHOG; SHH; 601002 GLUTATHIONE SYNTHETASE; GSS; 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM; 601683 COENZYME Q7; COQ7; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR; 602336 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 1; ROR1; 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2; 602717 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2D;; 604448 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN-BINDING; 604772 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; 605251 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 5; ABCC5; 605430 SPERM-ASSOCIATED ANTIGEN 9; SPAG9; 605985 GRIP-ASSOCIATED PROTEIN 1; 606118 HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3; 606247 ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM; Clinical Synopsis for 180500 RIEGER SYNDROME, TYPE 1; RIEG1; Clinical Synopsis for 194190 WOLF-HIRSCHHORN SYNDROME; WHS; Clinical Synopsis for 201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II; Clinical Synopsis for 237500 DUBIN-JOHNSON SYNDROME; DJS; Clinical Synopsis for 265000 PTERYGIUM SYNDROME

April 16, 2002
New Entries:: 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; 606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM; 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; 606849 UBIQUITIN-LIKE 5; UBL5; 606850 MIRROR-IMAGE POLYDACTYLY GENE 1; 606851 CREE MENTAL RETARDATION SYNDROME; 606852 PARKINSON DISEASE, AGE AT ONSET OF; 606853 ATPASE, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT G, ISOFORM 2; ATP6G2; 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; 606855 RELAXIN 3; RLN3; 606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1; 606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION; 606859 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 109535 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5; 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 117550 SOTOS SYNDROME; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 126453 DOPAMINE RECEPTOR D5; DRD5; 133430 ESTROGEN RECEPTOR 1; ESR1; 135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 138000 GLOMUVENOUS MALFORMATIONS; GVM; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1; 176730 INSULIN; INS; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 179710 CHROMOSOME CONDENSATION 1; CHC1; 182100 FUCOSYLTRANSFERASE 2; FUT2; 182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;; 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; 211100 FUCOSYLTRANSFERASE 1; FUT1; 260350 PANCREATIC CARCINOMA; 260980 MOVED TO 300388; 269160 SCHIZENCEPHALY; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 272120 SUDDEN INFANT DEATH SYNDROME; 300109 PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 1; PPEF1; 300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5; 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 306700 HEMOPHILIA A; 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 600061 RAD23, YEAST, HOMOLOG OF, A; RAD23A; 600062 RAD23, YEAST, HOMOLOG OF, B; RAD23B; 600176 PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 601047 CAVEOLIN 1; CAV1; 601295 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY),; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 601749 GLOMULIN; 602069 NEUROPILIN 1; NRP1; 602124 DYSTONIA 7, TORSION; DYT7; 602256 PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 2; PPEF2; 602582 DELTEX, DROSOPHILA, HOMOLOG OF, 1; DTX1; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD; 605193 RAS HOMOLOG GENE FAMILY, MEMBER I; ARHI; 605228 CBF1-INTERACTING COREPRESSOR; 605248 MUCOLIPIN 1; MCOLN1; 605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; 605516 CADHERIN 23; CDH23; 606855 RELAXIN 3; RLN3; Clinical Synopsis for 130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM; Clinical Synopsis for 147791 JACOBSEN SYNDROME; JBS; Clinical Synopsis for 173800 POLAND SYNDROME; Clinical Synopsis for 182290 SMITH-MAGENIS SYNDROME; SMS; Clinical Synopsis for 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; Clinical Synopsis for 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; Clinical Synopsis for 308300 INCONTINENTIA PIGMENTI; IP; Clinical Synopsis for 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2

April 12, 2002
New Entries:: 606846 CD8B-OPPOSITE; 606848 NEVER IN MITOSIS GENE A-RELATED KINASE 7; NEK7
Changed Entries:: 106210 PAIRED BOX GENE 6; PAX6; 114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 136850 FUMARATE HYDRATASE; FH; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 164160 LEPTIN; LEP; 164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS; 180440 RIBONUCLEASE A FAMILY, 1; RNASE1; 180510 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P0; RPLP0; 180520 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P1; RPLP1; 180530 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P2; RPLP2; 208900 ATAXIA-TELANGIECTASIA; AT; 237000 HYDROXYPROLINEMIA; 239500 HYPERPROLINEMIA, TYPE I; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 308230 HYPER-IgM IMMUNODEFICIENCY, X-LINKED; XHIM; 308350 INFANTILE SPASM SYNDROME, X-LINKED; 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; 516060 ATP SYNTHASE 6; MTATP6; 600985 TENASCIN-XB; TNXB; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; 602711 FE65-LIKE 2; 603818 NEUREGULIN 2; NRG2; 603864 COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE; CCS; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 604884 NEVER IN MITOSIS GENE A-RELATED KINASE 6; NEK6; 605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A

April 11, 2002
New Entries:: 606800 GLUCOSIDASE, ALPHA, ACID; GAA; Clinical Synopsis for 604841 STICKLER SYNDROME, TYPE II; STL2; Clinical Synopsis for 606056 GLUCOSIDASE I DEFICIENCY
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 107269 CD44 ANTIGEN; CD44; 108600 ATAXIA, SPASTIC, AUTOSOMAL DOMINANT; SAX1; 123610 CRYSTALLIN, BETA-A1; CRYBA1; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 139605 'HAIRY,' DROSOPHILA, HOMOLOG OF; HRY; 173470 INTEGRIN, BETA-3; ITGB3; 180510 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P0; RPLP0; 190920 TROPHOBLAST GLYCOPROTEIN; TPBG; 193210 INTEGRIN, ALPHA-V; ITGAV; 219700 CYSTIC FIBROSIS; CF; 231090 HYDATIDIFORM MOLE; 232300 GLYCOGEN STORAGE DISEASE II; 258865 ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES; 300202 SEDLIN; SEDL; 300323 GOUT, HPRT-RELATED; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; 601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13; 601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14; 601990 TUMOR PROTEIN p73; TP73; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 603273 TUMOR PROTEIN p63; 603517 B-CELL CLL/LYMPHOMA 10; BCL10; 604841 STICKLER SYNDROME, TYPE II; STL2; 606056 GLUCOSIDASE I DEFICIENCY; Clinical Synopsis for 113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I; PFHBI; Clinical Synopsis for 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM; Clinical Synopsis for 140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; Clinical Synopsis for 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; Clinical Synopsis for 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; Clinical Synopsis for 308300 INCONTINENTIA PIGMENTI; IP; Clinical Synopsis for 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; Clinical Synopsis for 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME

April 10, 2002
New Entries:: 606839 MUCIN AND CADHERIN-LIKE; MUCDHL; 606840 FACIOMANDIBULAR MYOCLONUS, NOCTURNAL; 606841 DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN; DEDD; 606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS; 606844 ALSTROM SYNDROME GENE; ALMS1; 606845 PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 154850 MASTICATORY MUSCLES, HYPERTROPHY OF; 180300 RHEUMATOID ARTHRITIS; 203800 ALSTROM SYNDROME; ALMS; 226200 ENTEROKINASE DEFICIENCY; 600291 ADENYLATE CYCLASE 3; ADCY3; 602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 606710 LIPOMA HMGIC FUSION PARTNER; LHFP; 606841 DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN; DEDD; 606844 ALSTROM SYNDROME GENE; ALMS1; Clinical Synopsis for 164210 HEMIFACIAL MICROSOMIA; HFM; Clinical Synopsis for 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2

April 9, 2002
New Entries:: 606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; 606836 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 3, MUCIN-TYPE; GCNT3; 606837 RB1-INDUCIBLE COILED-COIL 1; RB1CC1; 606838 APOPTOSIS-ASSOCIATED SPECK-LIKE PROTEIN CONTAINING A CARD
Changed Entries:: 116830 CATHEPSIN G; CTSG; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 130130 ELASTASE 2; ELA2; 147100 IgG HEAVY CHAIN LOCUS; IGHG1; 147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC; 147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1; 176100 PORPHYRIA CUTANEA TARDA; 600391 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 1, CORE 2; GCNT1; 601239 DYSTROBREVIN, ALPHA; DTNA; 601752 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 2; ENTPD2; 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1; 603424 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT; 604169 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 605748 BETA-CAROTENE 15,15-PRIME-DIOXYGENASE; BCDO; 606257 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12; 606258 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13; 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; 606616 DYSLEXIA QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 18; 606810 PROLINE DEHYDROGENASE; PRODH; 606811 ALDEHYDE DEHYDROGENASE, FAMILY 4, SUBFAMILY A, MEMBER 1; ALDH4A1; 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE

April 8, 2002
New Entries:: 606810 PROLINE DEHYDROGENASE; PRODH; 606811 ALDEHYDE DEHYDROGENASE, FAMILY 4, SUBFAMILY A, MEMBER 1; ALDH4A1
Changed Entries:: 113705 BREAST CANCER, TYPE 1; BRCA1; 134797 FIBRILLIN 1; FBN1; 143890 HYPERCHOLESTEROLEMIA, FAMILIAL; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 173470 INTEGRIN, BETA-3; ITGB3; 176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70; 187410 TERMINAL DEOXYNUCLEOTIDYLTRANSFERASE; TDT; 192430 VELOCARDIOFACIAL SYNDROME; 193500 WAARDENBURG SYNDROME, TYPE I; WS1; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 210600 SECKEL SYNDROME; 239500 HYPERPROLINEMIA, TYPE I; 239510 HYPERPROLINEMIA, TYPE II; 240500 COMMON VARIABLE IMMUNODEFICIENCY; 261600 PHENYLKETONURIA; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 277900 WILSON DISEASE; 300070 FIBROBLAST GROWTH FACTOR 13; FGF13; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY; 300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,; 300377 DYSTROPHIN; DMD; 300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5; 309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 601513 FIBROBLAST GROWTH FACTOR 12; FGF12; 601960 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 20; SCYA20; 602056 DEFENSIN, BETA, 1; DEFB1; 602406 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 1; HAND1; 602840 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 7; TNFSF7; 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5; 603875 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 8; TNFSF8; 603903 SICKLE CELL ANEMIA; 604558 INDUCIBLE COSTIMULATOR; ICOS; 604815 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2; 604821 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 4; LILRB4; 605326 TAX1-BINDING PROTEIN 1; TAX1BP1; 605384 INTERLEUKIN 21; IL21; 605729 AT-HOOK TRANSCRIPTION FACTOR AKNA; 605764 TRAF- AND TNF RECEPTOR-ASSOCIATED PROTEIN; 605933 DENDRITIC CELL-SPECIFIC TRANSMEMBRANE PROTEIN; 606222 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 6; IGSF6; 606463 GLUCOSIDASE, ACID BETA; GBA; 606475 8D6 ANTIGEN; 606625 CD2-LIKE RECEPTOR ACTIVATING CYTOTOXIC CELLS; 606782 C-TYPE LECTIN-LIKE RECEPTOR 1; 606810 PROLINE DEHYDROGENASE; PRODH; Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1

April 5, 2002
New Entries:: 300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5; 606831 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; 606832 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE; 606833 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 3; MLL3; 606834 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 4
Changed Entries:: 107400 PROTEASE INHIBITOR 1; PI; 111000 BLOOD GROUP--KIDD SYSTEM; JK; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 133430 ESTROGEN RECEPTOR 1; ESR1; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 153618 MACROPHAGE MANNOSE RECEPTOR; MRC1; 154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME 1; TCOF1; 157680 CELL DIVISION CYCLE 25C; CDC25C; 160900 DYSTROPHIA MYOTONICA 1; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 191170 TUMOR PROTEIN p53; TP53; 237300 HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY; 300205 EMOPAMIL-BINDING PROTEIN; EBP; 300275 NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; 300384 EMERIN; EMD; 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB; 308230 HYPER-IgM IMMUNODEFICIENCY, X-LINKED; XHIM; 600242 CHEMOKINE (C-C) RECEPTOR 7; CCR7; 601613 BURKITT LYMPHOMA RECEPTOR 1; BLR1; 601663 ESTROGEN RECEPTOR 2; ESR2; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602227 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19; 602287 CHROMOSOME 12 OPEN READING FRAME 8; C12ORF8; 602406 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 1; HAND1; 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1; 602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2; 602737 SMALL INDUCIBLE CYTOKINE SUBFAMILY A (CYS-CYS), MEMBER 21; SCYA21; 603558 MYOTUBULARIN-RELATED PROTEIN 3; MTMR3; 603559 MYOTUBULARIN-RELATED PROTEIN 4; MTMR4; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 605081 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 3; PSCD3; 605149 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 13; SCYB13; 605194 CRYPTIC PROTEIN; 605213 3-@PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1; 605893 CDP-DIACYLGLYCEROL-INOSITOL 3-PHOSPHATIDYLTRANSFERASE; CDIPT; 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14; 606830 ATP/GTP-BINDING PROTEIN 1; AGTPBP1; 606833 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 3; MLL3

April 4, 2002
New Entries:: 606812 FUMARASE DEFICIENCY; 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; 606823 TUMOR ENDOTHELIAL MARKER 5; 606825 TUMOR ENDOTHELIAL MARKER 6; 606826 TUMOR ENDOTHELIAL MARKER 7; 606827 TUMOR ENDOTHELIAL MARKER 7-RELATED PROTEIN; 606828 N-ACETYLGLUCOSAMINE KINASE; NAGK; 606830 ATP/GTP-BINDING PROTEIN 1; AGTPBP1
Changed Entries:: 100070 ABDOMINAL AORTIC ANEURYSM; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 136850 FUMARATE HYDRATASE; FH; 139320 GNAS COMPLEX LOCUS; GNAS; 147561 INTEGRIN, BETA-5; ITGB5; 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME; 150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN; 151300 LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP; 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; 173470 INTEGRIN, BETA-3; ITGB3; 174760 POLYMERASE, DNA, BETA; POLB; 176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2; 194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1; 231300 GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A; 253280 MUSCLE-EYE-BRAIN DISEASE; MEB; 300239 EPIDERMAL GROWTH FACTOR-LIKE 6; EGFL6; 300377 DYSTROPHIN; DMD; 300381 ZINC FINGER PROTEIN 185; ZNF185; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 516060 ATP SYNTHASE 6; MTATP6; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 601638 PARTNER OF RAC1; 602353 TRANSFORMING GROWTH FACTOR, BETA-1-INDUCED 1; TGFB1I1; 605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; 606064 TUMOR ENDOTHELIAL MARKER 1; 606410 TUMOR ENDOTHELIAL MARKER 8; 606818 DIPEPTIDYL PEPTIDASE III; DPP3; 606819 DIPEPTIDYL PEPTIDASE VIII; DPP8

April 3, 2002
New Entries:: 606815 CBP/P300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH CARBOXY TERMINAL; 606816 SID1, C. ELEGANS, HOMOLOG OF; 606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR; 606818 DIPEPTIDYL PEPTIDASE III; DPP3; 606819 DIPEPTIDYL PEPTIDASE 8; DPP8; 606820 GLUTAREDOXIN 2; GLRX2; 606821 GOLGI TRANSPORT COMPLEX 1; GOLTC1
Changed Entries:: 102720 DIPEPTIDYL PEPTIDASE IV; DPP4; 107741 APOLIPOPROTEIN E; APOE; 114030 CAFE-AU-LAIT SPOTS, MULTIPLE; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 120577 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, RECEPTOR 1; C1QR1; 126141 DIPEPTIDYL PEPTIDASE IV-RELATED PROTEIN; DPPX; 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD; 138030 GLUCAGON; GCG; 147370 INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R; 147562 INTERFERON, ALPHA-2; IFNA2; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB; 186710 T-CELL ACTIVATION ANTIGEN p250; TP250; 188360 THYMOCYTE ANTIGEN CD1B; CD1B; 191170 TUMOR PROTEIN p53; TP53; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 200150 CHOREOACANTHOCYTOSIS; CHAC; 248200 STARGARDT DISEASE 1; STGD1; 277700 WERNER SYNDROME; WRN; 300239 EPIDERMAL GROWTH FACTOR-LIKE 6; EGFL6; 600403 FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 600560 SHC TRANSFORMING PROTEIN; SHC1; 601021 NUCLEOPORIN, 98-KD; NUP98; 601179 RAS-RELATED NUCLEAR PROTEIN; RAN; 601212 PROTEIN-TYROSINE KINASE 2, BETA; PTK2B; 602365 CATHEPSIN C; CTSC; 602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7; 602565 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 25; SCYA25; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FKHRL1; 603554 OMENN SYNDROME; 603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; 604274 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1; 604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK; 604738 CHEMOKINE (C-C) RECEPTOR 9; CCR9; 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; 605093 LYMPHOCYTE ADAPTOR PROTEIN; 605186 WNT INHIBITORY FACTOR 1; WIF1; 605820 NONAKA MYOPATHY; NM; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR

April 2, 2002
New Entries:: 300384 EMERIN; EMD; 300387 MENTAL RETARDATION, X-LINKED NONSPECIFIC, 63; MRX63; 606814 PROTEOGLYCAN 3; PRG3
Changed Entries:: 139900 HANDEDNESS; 143100 HUNTINGTON DISEASE; HD; 143500 GILBERT SYNDROME; 150330 LAMIN A/C; LMNA; 151623 LI-FRAUMENI SYNDROME; LFS; 161950 IgA NEPHROPATHY; 168600 PARKINSON DISEASE; PD; 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2; 300017 FILAMIN A; FLNA; 300157 FATTY ACID CoA LIGASE, LONG-CHAIN 4; FACL4; 300194 AMME COMPLEX; 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD; 305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY; EDMD; 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX; 600178 MICROTUBULE-ASSOCIATED PROTEIN 1A; MAP1A; 600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 601197 TUBBY, MOUSE, HOMOLOG OF; TUB; 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7; 605386 LET7, C. ELEGANS, HOMOLOG OF; 605601 PROTEOGLYCAN 2; PRG2; 606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2

April 1, 2002
New Entries:: 606813 SOLUTE CARRIER FAMILY 2, MEMBER 6; SLC2A6
Changed Entries:: 600832 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER A; ANP32A; 601204 PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR; PTGFRN

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OMIM Update List for April, 2002

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