OMIM Update List for May, 2002

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Nucleotide

Protein

Genome

OMIM Update List for May, 2002

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May 31, 2002
New Entries:: 607002 PROKINETICIN 2; 607003 THYMIC STROMAL LYMPHOPOIETIN; 607004 BRACHYDACTYLY, TYPE A1, LOCUS ON CHROMOSOME 5
Changed Entries:: 112500 BRACHYDACTYLY, TYPE A1; BDA1; 120700 COMPLEMENT COMPONENT 3; C3; 139110 GRO2 ONCOGENE; GRO2; 139111 GRO3 ONCOGENE; GRO3; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 146661 INTERLEUKIN 7 RECEPTOR; IL7R; 155730 GRO1 ONCOGENE; GRO1; 188410 THYMOCYTE ANTIGEN CD1D; CD1D; 191320 UBIQUITIN; 300272 HISTONE DEACETYLASE 6; HDAC6; 300357 CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2; 600324 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 5; SCYB5; 601373 CHEMOKINE (C-C) RECEPTOR 5; CCR5; 602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8; 602332 BARREN, DROSOPHILA, HOMOLOG OF, 1; BRRN1; 602913 CYTOKINE-INDUCIBLE KINASE; CNK; 603757 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 18; SCYA18; 605020 VISUAL SYSTEM HOMEO BOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1; 606233 PROKINETICIN 1; 607000 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 100; 607003 THYMIC STROMAL LYMPHOPOIETIN

May 30, 2002
New Entries:: 606998 FLOTILLIN 1; FLOT1; 607000 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 100; 607001 EUCHROMATIC HISTONE METHYLTRANSFERASE 1
Changed Entries:: 103280 H19 GENE; H19; 104770 AMYLOID P COMPONENT, SERUM; APCS; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 131560 FLOTILLIN 2; FLOT2; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 142704 HISTIDINE DECARBOXYLASE; HDC; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 176801 PROSAPOSIN; PSAP; 188400 DIGEORGE SYNDROME; DGS; 190120 THYROID HORMONE RECEPTOR, ALPHA-1; THRA; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; 247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE; 254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1; 300182 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 2; CRSP2; 300377 DYSTROPHIN; DMD; 600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600400 PROLYL ENDOPEPTIDASE; PREP; 600838 WINGED HELIX NUDE; WHN; 600922 MYOSIN LIGHT CHAIN KINASE; MYLK; 601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601751 G PROTEIN-COUPLED RECEPTOR 24; GPR24; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 601913 arsA ARSENITE TRANSPORTER, ATP-BINDING, E. COLI, HOMOLOG OF, 1; ASNA1; 602105 MutS, E. COLI, HOMOLOG OF, 4; MSH4; 602201 EXTRACELLULAR MATRIX PROTEIN 1; ECM1; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602716 NEPHRIN; 602944 E2F TRANSCRIPTION FACTOR 6; E2F6; 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B; 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15; 604184 PUTATIVE NEURONAL CELL ADHESION MOLECULE; PUNC; 604599 HLA-B-ASSOCIATED TRANSCRIPT 8; BAT8; 604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3; 605042 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 3; CRSP3; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14; 607000 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 100; Clinical Synopsis for 136120 FISH-EYE DISEASE; FED; Clinical Synopsis for 245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; Clinical Synopsis for 254600 MYELOPEROXIDASE DEFICIENCY

May 29, 2002
New Entries:: 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B; 606953 UDP-GALACTOSE-4-EPIMERASE; GALE; 606967 LECITHIN:CHOLESTEROL ACYLTRANSFERASE; LCAT; 606989 MYELOPEROXIDASE; MPO; 606997 NUCLEAR DNA-BINDING PROTEIN C1D
Changed Entries:: 107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT; 107680 APOLIPOPROTEIN A-I; APOA1; 107740 APOLIPOPROTEIN D; APOD; 107748 APEX NUCLEASE; APEX; 108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1; 109150 MACHADO-JOSEPH DISEASE; MJD; 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1; 116830 CATHEPSIN G; CTSG; 118888 CHYMOTRYPSIN-LIKE PROTEASE; CTRL; 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1; 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 123610 CRYSTALLIN, BETA-A1; CRYBA1; 130130 ELASTASE 2; ELA2; 131399 EOSINOPHIL PEROXIDASE; EPX; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 134920 FIBROBLAST GROWTH FACTOR 2; FGF2; 136120 FISH-EYE DISEASE; FED; 137800 GLIOMA OF BRAIN; 138971 COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R; 142410 TRANSCRIPTION FACTOR 1; TCF1; 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; 150205 LACTOPEROXIDASE; LPO; 150210 LACTOTRANSFERRIN; LTF; 151670 LIPASE, HEPATIC; LIPC; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 162323 TACHYKININ RECEPTOR 1; TACR1; 163000 NEVI FLAMMEI, FAMILIAL MULTIPLE; 176640 PRION PROTEIN; PRNP; 176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10; 177015 PROTEIN SERINE KINASE H1; PSKH1; 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD; 190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE; 193500 WAARDENBURG SYNDROME, TYPE I; WS1; 202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 230350 GALACTOSE EPIMERASE DEFICIENCY; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; 254600 MYELOPEROXIDASE DEFICIENCY; 277600 WEILL-MARCHESANI SYNDROME; 600381 KINECTIN; KTN1; 600453 ZINC FINGER PROTEIN 147; ZNF147; 600759 ALZHEIMER DISEASE, FAMILIAL, TYPE 4; 600922 MYOSIN LIGHT CHAIN KINASE; MYLK; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601760 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 4; GTF2H4; 601769 VITAMIN D RECEPTOR; VDR; 604311 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP; 604475 RETICULON 4; RTN4; 604786 ADP-RIBOSYLATION FACTOR-LIKE 4; ARL4; 604993 PRECURSOR mRNA-PROCESSING FACTOR 18, S. CEREVISIAE, HOMOLOG OF; PRPF18; 605085 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1; 605158 p53-RESPONSIVE GENE 2; 605219 SECOND MITOCHONDRIA-DERIVED ACTIVATOR OF CASPASE; 605566 RETICULON 4 RECEPTOR; RTN4R; 605764 TRAF- AND TNF RECEPTOR-ASSOCIATED PROTEIN; 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31; 606765 THYROID PEROXIDASE; TPO; 606933 TYROSINASE; TYR; 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B; 606989 MYELOPEROXIDASE; MPO

May 28, 2002
New Entries:: 606988 CALCINEURIN B HOMOLOGOUS PROTEIN; 606990 COATOMER PROTEIN COMPLEX, SUBUNIT BETA-2; COPB2; 606991 INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1; 606992 INOSITOL HEXAPHOSPHATE KINASE 2; IHPK2; 606993 INOSITOL HEXAPHOSPHATE KINASE 3; IHPK3; 606994 ACTIVATED P21CDC42HS KINASE
Changed Entries:: 107730 APOLIPOPROTEIN B; APOB; 107741 APOLIPOPROTEIN E; APOE; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A; 124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142000 HEMOGLOBIN--DELTA LOCUS; HBD; 142461 HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 142994 HOMEO BOX GENE HB9; HLXB9; 145001 HYPERPARATHYROIDISM 2; HRPT2; 145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1; 146680 INSULIN-DEGRADING ENZYME; IDE; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 162151 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 2; PCSK2; 176975 PROTEIN KINASE C, EPSILON; PRKCE; 180260 RETINOL-BINDING PROTEIN 1; RBP1; 180849 RUBINSTEIN SYNDROME; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 193500 WAARDENBURG SYNDROME, TYPE I; WS1; 235200 HEMOCHROMATOSIS; HFE; 236670 WALKER-WARBURG SYNDROME; 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,; 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; 257200 NIEMANN-PICK DISEASE; 257300 NONDISJUNCTION; 305400 FACIOGENITAL DYSPLASIA; 600005 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II TRANSACTIVATOR; MHC2TA; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600164 GTP-BINDING MITOGEN-INDUCED T-CELL PROTEIN; GEM; 600800 NGFIA-BINDING PROTEIN; NAB1; 602089 HEMANGIOMA, CAPILLARY INFANTILE; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; MHP2; 604558 INDUCIBLE COSTIMULATOR; ICOS; 604824 KLOTHO; KL; 604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 606973 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1; 606974 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 2; COG2; 606987 G PROTEIN-COUPLED RECEPTOR KINASE 7; GPRK7; 606988 CALCINEURIN B HOMOLOGOUS PROTEIN; 606994 ACTIVATED P21CDC42HS KINASE; Clinical Synopsis for 181450 ULNAR-MAMMARY SYNDROME; UMS

May 24, 2002
New Entries:: 300397 MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACE; 606982 GERANYLGERANYL DIPHOSPHATE SYNTHASE 1; GGPS1; 606985 ELONGATION PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; ELP4; 606986 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 606987 G PROTEIN-COUPLED RECEPTOR KINASE 7
Changed Entries:: 108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2; 154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300196 TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X; 600362 FLIGHTLESS I, DROSOPHILA, HOMOLOG OF; FLII; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; IGE; 600869 G PROTEIN-COUPLED RECEPTOR KINASE 6; GPRK6; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 605069 MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE; 606832 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE; 606982 GERANYLGERANYL DIPHOSPHATE SYNTHASE 1; GGPS1; Clinical Synopsis for 114480 BREAST CANCER; Clinical Synopsis for 123400 CREUTZFELDT-JAKOB DISEASE; CJD; Clinical Synopsis for 124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D; Clinical Synopsis for 181450 ULNAR-MAMMARY SYNDROME; UMS; Clinical Synopsis for 182900 SPHEROCYTOSIS, HEREDITARY; HS; Clinical Synopsis for 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1

May 24, 2002
New Entries:: 606969 GEM-ASSOCIATED PROTEIN 4; GEMIN4; 606970 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME; 606971 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME; 606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME; 606973 LOW DENSITY LIPOPROTEIN RECEPTOR DEFECT B-COMPLEMENTING PROTEIN; LDLB; 606974 LOW DENSITY LIPOPROTEIN RECEPTOR DEFECT C-COMPLEMENTING PROTEIN; LDLC; 606975 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 3; COG3; 606976 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4; COG4; 606977 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6; 606978 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7; COG7; 606979 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8; COG8; 606980 CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1; 606981 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2; 606983 DIACYLGLYCEROL O-ACYLTRANSFERASE 2; DGAT2
Changed Entries:: 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 131242 ENDOTHELIN 3; EDN3; 147740 INTERLEUKIN 3; IL3; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS;; 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD; 180435 RIBONUCLEASE L; RNASEL; 194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1; 229300 FRIEDREICH ATAXIA 1; FRDA; 277400 VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA; 600141 HEAT-SHOCK 10-KD PROTEIN; HSPE1; 600202 DYSLEXIA, SPECIFIC, 2; DYX2; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; IGE; 602595 SMN-INTERACTING PROTEIN 1; SIP1; 604289 RAD54, S. CEREVISIAE, HOMOLOG OF, B; 604768 ZINC FINGER PROTEIN 254; ZNF254; 605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13; 605317 FORKHEAD BOX P2; FOXP2; 605580 INTERLEUKIN 23-ALPHA; IL23A; 606821 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 5; COG5; 606849 UBIQUITIN-LIKE 5; UBL5; 606980 CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1; Clinical Synopsis for 104150 ALPHA-FETOPROTEIN; AFP; Clinical Synopsis for 245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

May 22, 2002
New Entries:: 606958 MEMBRANE PROTEIN, PALMITOYLATED 5; MPP5; 606959 MEMBRANE PROTEIN, PALMITOYLATED 6; MPP6; 606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS; 606961 WW DOMAIN BINDING PROTEIN 1; WBP1; 606962 WW DOMAIN BINDING PROTEIN 2; WBP2; 606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET; 606964 SERINE/THREONINE PROTEIN KINASE 38; STK38; 606965 FAS-ACTIVATED SERINE/THREONINE KINASE; 606968 ELONGATION FACTOR 2 KINASE; Clinical Synopsis for 606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM; Clinical Synopsis for 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
Changed Entries:: 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2; 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1; 182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;; 256100 NEPHRONOPHTHISIS 1; NPHP1; 602404 PARKINSON DISEASE 3; 603199 INAD, DROSOPHILA, HOMOLOG OF; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37; 606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM; 606961 WW DOMAIN BINDING PROTEIN 1; WBP1; 606962 WW DOMAIN BINDING PROTEIN 2; WBP2; Clinical Synopsis for 182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;; Clinical Synopsis for 230350 GALACTOSE EPIMERASE DEFICIENCY; Clinical Synopsis for 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

May 21, 2002
New Entries:: 606954 ZINC FINGER PROTEIN 253; ZNF253; 606955 ZINC FINGER PROTEIN 255; ZNF255; 606956 ZINC FINGER PROTEIN 256; ZNF256; 606957 ZINC FINGER PROTEIN 257; ZNF257
Changed Entries:: 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE; 134790 FERRITIN LIGHT CHAIN; FTL; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 180297 RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG; 191044 TROPONIN I, CARDIAC; TNNI3; 194534 ZINC FINGER PROTEIN 24; ZNF24; 256700 NEUROBLASTOMA; 300086 G PROTEIN-COUPLED RECEPTOR 23; GPR23; 300392 WAS GENE; WAS; 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1; 308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG; 313900 THROMBOCYTOPENIA 1; THC1; 601962 TAP-BINDING PROTEIN; TAPBP; 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1; 603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2; 603262 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 1; PAPSS1; 603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20; 604114 PHOSPHOLIPASE C, BETA-2; PLCB2

May 20, 2002
Changed Entries:: 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B

May 17, 2002
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 125310 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS; 126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2; 142959 HOMEO BOX A13; HOXA13; 143100 HUNTINGTON DISEASE; HD; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS; 180901 RYANODINE RECEPTOR 1; RYR1; 188400 DIGEORGE SYNDROME; DGS; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 192090 CADHERIN 1; CDH1; 192430 VELOCARDIOFACIAL SYNDROME; 203100 OCULOCUTANEOUS ALBINISM, TYPE 1; OCA1; 242650 PRIMARY CILIARY DYSKINESIA; PCD; 278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300389 RETINITIS PIGMENTOSA 3; RP3; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3; 601675 TRICHOTHIODYSTROPHY; TTD; 602054 T-BOX 1; TBX1; 603196 COCHLIN; COCH; Clinical Synopsis for 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC

May 16, 2002
New Entries:: 606946 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; 606947 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 4; 606948 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 5; ANAPC5; 606949 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; 606950 THYROTROPIN-RELEASING HORMONE-DEGRADING ECTOENZYME; 606951 MELANOMA DIFFERENTIATION-ASSOCIATED GENE 5
Changed Entries:: 106600 HYPODONTIA, AUTOSOMAL DOMINANT; HYD1; 116946 CELL DIVISION CYCLE 27; CDC27; 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; 161200 NAIL-PATELLA SYNDROME; NPS; 164160 LEPTIN; LEP; 167416 PAIRED BOX GENE 9; PAX9; 186730 T-CELL GLYCOPROTEIN CD8B; CD8B; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I; 250100 METACHROMATIC LEUKODYSTROPHY; 601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH; 602346 CONTACTIN-ASSOCIATED PROTEIN 1; CNTNAP1; 602361 GRACILE BONE DYSPLASIA; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 603461 CELL DIVISION CYCLE 16, S. CEREVISIAE, HOMOLOG OF; CDC16; 603462 CELL DIVISION CYCLE 23; CDC23; 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2; 604625 OLIGODONTIA; 605092 RETINOIC ACID RECEPTOR RESPONDER 3; RARRES3; 606725 CLN6 GENE; CLN6; Mini-MIM for 190160 THYROID HORMONE RECEPTOR, BETA; THRB

May 15, 2002
New Entries:: 606933 TYROSINASE; TYR; 606944 ERBB2 INTERACTING PROTEIN; ERBB2IP
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 107270 CD38 ANTIGEN; CD38; 107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 142200 HEMOGLOBIN, GAMMA A; HBG1; 142250 HEMOGLOBIN, GAMMA G; HBG2; 155550 SILVER, MOUSE, HOMOLOG OF; SILV; 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF; 164340 OLFACTORY MARKER PROTEIN; OMP; 168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1; 176830 PROOPIOMELANOCORTIN; POMC; 191090 TUBEROUS SCLEROSIS 4; 191270 TYROSINASE-LIKE; TYRL; 191275 DOPACHROME TAUTOMERASE; DCT; 193500 WAARDENBURG SYNDROME, TYPE I; WS1; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1; 236200 HOMOCYSTINURIA; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 600013 TRANSCRIPTION FACTOR YY1; YY1; 600085 PROTEIN-TYROSINE KINASE SYK; SYK; 600201 AGOUTI SIGNALING PROTEIN; ASIP; 600349 INHIBITOR OF DNA BINDING 1; ID1; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 600725 SONIC HEDGEHOG; SHH; 600848 NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2; 600965 HEARING LOSS, LOW-FREQUENCY SENSORINEURAL; LFSNHL; 601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH; 601625 ADP-RIBOSYLTRANSFERASE 1; ART1; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 603342 SCHIZOPHRENIA 2; SCZD2; 605166 HISTONE DEACETYLASE 3; HDAC3; 605314 HISTONE DEACETYLASE 4; HDAC4; 605383 INTERLEUKIN 21 RECEPTOR; IL21R; 605384 INTERLEUKIN 21; IL21; 605471 ZINC FINGER PROTEIN, SUBFAMILY 2A, MEMBER 1; ZNFN2A1; 605513 MELAN A; MLANA; 605697 UL16-BINDING PROTEIN 1; 605698 UL16-BINDING PROTEIN 2; 605699 UL16-BINDING PROTEIN 3; 606597 PAIRED BOX GENE 3; PAX3; 606944 ERBB2 INTERACTING PROTEIN; ERBB2IP

May 14, 2002
New Entries:: 606938 UROPORPHYRINOGEN III SYNTHASE; UROS; 606939 ATPASE, H+ TRANSPORTING, LYSOSOMAL 56/58-KD, V1 SUBUNIT B, ISOFORM; 606940 ZINC FINGER HOMEODOMAIN 4; 606941 DISRUPTED IN BIPOLAR DISORDER 1; 606942 COATOMER PROTEIN COMPLEX, SUBUNIT EPSILON; COPE; 606943 USHER SYNDROME, TYPE IG; USH1G
Changed Entries:: 120252 COLLAGEN, TYPE VIII, ALPHA-2; COL8A2; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 122000 CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL; 143100 HUNTINGTON DISEASE; HD; 150310 LAMININ, BETA-3; LAMB3; 153337 LYMPHOCYTE ACTIVATION GENE 3; LAG3; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 167500 PALATOPHARYNGEAL INCOMPETENCE; 178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1; 179605 RETINAL DEGENERATION, SLOW; RDS; 192132 ATPase, H+ TRANSPORTING, LYSOSOMAL 56/58-KD, V1 SUBUNIT B, ISOFORM; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 212750 CELIAC DISEASE; CD; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 261600 PHENYLKETONURIA; 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601517 ATAXIN 2; ATX2; 601621 T-BOX 3; TBX3; 601924 COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA; 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1; 602565 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 25; SCYA25; 604896 MCKUSICK-KAUFMAN SYNDROME GENE; MKKS; 605506 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF; VPS26; 605636 MATERNALLY EXPRESSED GENE 3; MEG3; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 606463 GLUCOSIDASE, ACID BETA; GBA; 606530 CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1; 606931 VACUOLAR PROTEIN SORTING 35; VPS35; 606932 VACUOLAR PROTEIN SORTING 29; VPS29; 606939 ATPASE, H+ TRANSPORTING, LYSOSOMAL 56/58-KD, V1 SUBUNIT B, ISOFORM; 606940 ZINC FINGER HOMEODOMAIN 4

May 13, 2002
New Entries:: 300392 WAS GENE; WAS; 606934 COMPLEX I INTERMEDIATE-ASSOCIATED PROTEIN 30; 606935 SPLICING FACTOR, 45-KD; 606936 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 4;; 606937 CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN
Changed Entries:: 188000 THROMBOCYTOPENIA 2; THC2; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 300239 EPIDERMAL GROWTH FACTOR-LIKE 6; EGFL6; 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN; 300392 WAS GENE; WAS; 301000 WISKOTT-ALDRICH SYNDROME; WAS; 313900 THROMBOCYTOPENIA 1; THC1; 601255 AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV; 601581 NEURONAL CELL ADHESION MOLECULE; NRCAM; 602580 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 2; GOLGA2; 603375 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 604769 PEROXIREDOXIN 3; PRDX3; 605506 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF; VPS26; 605680 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1A; BAZ1A; 606380 G PROTEIN-COUPLED RECEPTOR 86; GPR86; 606867 GOLGI PHOSPHOPROTEIN 5; GOLPH5; 606917 G PROTEIN-COUPLED RECEPTOR 62; GPR62; 606931 VACUOLAR PROTEIN SORTING 35; VPS35; 606932 VACUOLAR PROTEIN SORTING 29; VPS29

May 10, 2002
New Entries:: 300394 TAFAZZIN; TAZ; 300395 THO2, YEAST, HOMOLOG OF; 606926 G PROTEIN-COUPLED RECEPTOR 92; GPR92; 606927 G PROTEIN-COUPLED RECEPTOR 102; GPR102; 606928 BONE MINERAL DENSITY VARIATION 3; 606929 TEX1, YEAST, HOMOLOG OF; 606930 NUCLEAR MATRIX PROTEIN p84; 606931 VACUOLAR PROTEIN SORTING 35; VPS35; 606932 VACUOLAR PROTEIN SORTING 29; VPS29
Changed Entries:: 103180 ADP-RIBOSYLATION FACTOR 1; ARF1; 104300 ALZHEIMER DISEASE; AD; 147140 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, ALPHA SUBUNIT;; 153650 EPSTEIN SYNDROME; 166710 OSTEOPOROSIS, INVOLUTIONAL; 176730 INSULIN; INS; 186945 FK506-BINDING PROTEIN 1A; FKBP1A; 191170 TUMOR PROTEIN p53; TP53; 300183 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED; INVM; 302060 BARTH SYNDROME; BTHS; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP; 601501 MEM3, MOUSE, HOMOLOG OF; 601924 COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA; 604169 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL; 604171 TRANSCRIPTIONAL COACTIVATOR ALY; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 606379 G PROTEIN-COUPLED RECEPTOR 87; GPR87; 606390 U2AF65-ASSOCIATED PROTEIN, 56-KD; UAP56; 606832 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE; 606915 G PROTEIN-COUPLED RECEPTOR 63; GPR63; 606917 G PROTEIN-COUPLED RECEPTOR 62; GPR62; 606927 G PROTEIN-COUPLED RECEPTOR 102; GPR102; 606931 VACUOLAR PROTEIN SORTING 35; VPS35; Clinical Synopsis for 302060 BARTH SYNDROME; BTHS

May 9, 2002
New Entries:: 300393 G PROTEIN-COUPLED RECEPTOR 101; GPR101; 606915 G PROTEIN-COUPLED RECEPTOR 63; GPR63; 606916 G PROTEIN-COUPLED RECEPTOR 61; GPR61; 606917 G PROTEIN-COUPLED RECEPTOR 62; GPR62; 606919 LAG1, S. CEREVISIAE, HOMOLOG OF, 1; LASS1; 606920 LAG1, S. CEREVISIAE, HOMOLOG OF, 2; LASS2; 606921 G PROTEIN-COUPLED RECEPTOR 78; GPR78; 606922 G PROTEIN-COUPLED RECEPTOR 80; GPR80; 606923 G PROTEIN-COUPLED RECEPTOR 81; GPR81; 606924 G PROTEIN-COUPLED RECEPTOR 82; GPR82; 606925 G PROTEIN-COUPLED RECEPTOR 103; GPR103
Changed Entries:: 109535 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5; 164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 179615 RECOMBINATION-ACTIVATING GENE 1; RAG1; 300393 G PROTEIN-COUPLED RECEPTOR 101; GPR101; 302060 BARTH SYNDROME; BTHS; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1; 602513 REGULATOR OF G PROTEIN SIGNALING 14; RGS14; 602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1; 604106 G PROTEIN-COUPLED RECEPTOR 52; GPR52; 604107 G PROTEIN-COUPLED RECEPTOR 55; GPR55; 604879 SOLUTE CARRIER FAMILY 12, MEMBER 7; SLC12A7; 606013 F-BOX ONLY PROTEIN 5; FBXO5; 606812 FUMARASE DEFICIENCY; 606913 SECRETORY CARRIER MEMBRANE PROTEIN 3; SCAMP3; 606915 G PROTEIN-COUPLED RECEPTOR 63; GPR63; 606916 G PROTEIN-COUPLED RECEPTOR 61; GPR61; 606917 G PROTEIN-COUPLED RECEPTOR 62; GPR62; Clinical Synopsis for 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE; Clinical Synopsis for 274500 THYROID HORMONE ORGANIFICATION DEFECT II

May 8, 2002
New Entries:: 606887 SULFITE OXIDASE; SUOX; 606897 LYSOSOMAL TRAFFICKING REGULATOR; LYST; 606911 SECRETORY CARRIER MEMBRANE PROTEIN 1; SCAMP1; 606912 SECRETORY CARRIER MEMBRANE PROTEIN 2; SCAMP2; 606913 SECRETORY CARRIER MEMBRANE PROTEIN 3; SCAMP3; 606918 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5; GOLGA5; Clinical Synopsis for 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; Clinical Synopsis for 606812 FUMARASE DEFICIENCY
Changed Entries:: 114480 BREAST CANCER; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 116930 CELL ADHESION MOLECULE, NEURAL, 1; NCAM1; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 137026 G PROTEIN-COUPLED RECEPTOR KINASE 2 (DROSOPHILA)-LIKE; GPRK2L; 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164761 RET PROTOONCOGENE; RET; 176640 PRION PROTEIN; PRNP; 180200 RETINOBLASTOMA; RB1; 188070 THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R; 188550 THYROID CARCINOMA, PAPILLARY; 203450 ALEXANDER DISEASE; 214500 CHEDIAK-HIGASHI SYNDROME; CHS; 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE; 263300 POLYCYTHEMIA VERA; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 272300 SULFOCYSTEINURIA; 302060 BARTH SYNDROME; BTHS; 304500 DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFN2; 305300 ENDOCARDIAL FIBROELASTOSIS; 305650 REMOVED FROM DATABASE; 590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH; 600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR; 600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DISEASE OF; 600953 INTERLEUKIN 18; IL18; 601772 H2AX HISTONE; H2AX; 602239 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 1; CYP26A1; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 604113 INTERLEUKIN 18-BINDING PROTEIN; IL18BP; 604530 LYMPHOCYTE ANTIGEN 94, MOUSE, HOMOLOG OF; LY94; 604889 NEUROBEACHIN; NBEA; 604982 HERMANSKY-PUDLAK SYNDROME GENE 1; HPS1; 605547 FOLLISTATIN-LIKE 1; FSTL1; 605776 FIBRINOGEN-LIKE 1; FGL1; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 606846 CD8B-OPPOSITE; 606874 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 2; 606875 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 3; Clinical Synopsis for 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE; Clinical Synopsis for 239500 HYPERPROLINEMIA, TYPE I; Clinical Synopsis for 239510 HYPERPROLINEMIA, TYPE II; Clinical Synopsis for 274500 THYROID HORMONE ORGANIFICATION DEFECT II

May 7, 2002
New Entries:: 606869 HEXOSAMINIDASE A; HEXA; 606873 HEXOSAMINIDASE B; HEXB; 606909 VESICLE-ASSOCIATED MEMBRANE PROTEIN 4; VAMP4; 606914 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR BETA; PKIB; Clinical Synopsis for 606762 HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Changed Entries:: 114030 CAFE-AU-LAIT SPOTS, MULTIPLE; 118840 CHROMATE RESISTANCE; CHR; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 130620 RIBOSOMAL PROTEIN S14; RPS14; 131220 FIBROBLAST GROWTH FACTOR 1; FGF1; 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1; 142660 HEXOSAMINIDASE C; HEXC; 147310 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 10; SCYB10; 161561 INTERLEUKIN 12B; IL12B; 173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR; 176640 PRION PROTEIN; PRNP; 180200 RETINOBLASTOMA; RB1; 181510 SCHIZOPHRENIA 1; SCZD1; 191840 PLASMINOGEN ACTIVATOR, UROKINASE; PLAU; 230800 GAUCHER DISEASE, TYPE I; 253300 SPINAL MUSCULAR ATROPHY I; SMA1; 253550 SPINAL MUSCULAR ATROPHY II; SMA2; 268800 SANDHOFF DISEASE; 272800 TAY-SACHS DISEASE; TSD; 310600 NORRIE DISEASE; NDP; 600072 FAMILIAL FATAL INSOMNIA; FFI; 600333 MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8; 600965 HEARING LOSS, LOW-FREQUENCY SENSORINEURAL; LFSNHL; 601704 MONOKINE INDUCED BY GAMMA INTERFERON; MIG; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602731 FYN-BINDING PROTEIN; FYB; 602849 MUENKE SYNDROME; 603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8; 603944 SYNTAXIN 6; STX6; 604932 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR GAMMA; PKIG; 605957 MOVED TO 600965; 606201 WOLFRAM SYNDROME GENE 1; WFS1; 606463 GLUCOSIDASE, ACID BETA; GBA; 606762 HYPERINSULINISM-HYPERAMMONEMIA SYNDROME; 606869 HEXOSAMINIDASE A; HEXA; 606907 APOLIPOPROTEIN M; APOM; 606914 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR BETA; PKIB; Clinical Synopsis for 230400 GALACTOSEMIA; Clinical Synopsis for 234500 HARTNUP DISORDER; Clinical Synopsis for 239500 HYPERPROLINEMIA, TYPE I; Clinical Synopsis for 248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY; Clinical Synopsis for 272300 SULFOCYSTEINURIA; Clinical Synopsis for 277700 WERNER SYNDROME; WRN; Clinical Synopsis for 277730 WERNICKE-KORSAKOFF SYNDROME; Clinical Synopsis for 306700 HEMOPHILIA A; Clinical Synopsis for 309400 MENKES SYNDROME; Clinical Synopsis for 309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1; Clinical Synopsis for 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY; EDMD; Clinical Synopsis for 312060 PROPERDIN DEFICIENCY, X-LINKED; Clinical Synopsis for 606762 HYPERINSULINISM-HYPERAMMONEMIA SYNDROME

May 6, 2002
New Entries:: 606905 PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1; 606906 FTSJ, E. COLI, HOMOLOG OF, 2; FTSJ2; 606907 APOLIPOPROTEIN M; APOM; 606908 ZINC FINGER PROTEIN 289, ID1-REGULATED; ZNF289
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 114480 BREAST CANCER; 118444 CHOLECYSTOKININ A RECEPTOR; CCKAR; 120470 DELETED IN COLORECTAL CARCINOMA; DCC; 120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1; 191045 TROPONIN T2, CARDIAC; TNNT2; 400003 DELETED IN AZOOSPERMIA; DAZ; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600349 INHIBITOR OF DNA BINDING 1; ID1; 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3; 601833 ALLOGRAFT INFLAMMATORY FACTOR 1; AIF1; 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4; 603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2; 603262 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 1; PAPSS1; 604114 PHOSPHOLIPASE C, BETA-2; PLCB2; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604534 CD83 ANTIGEN; CD83; 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C; Clinical Synopsis for 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; Clinical Synopsis for 143890 HYPERCHOLESTEROLEMIA, FAMILIAL; Clinical Synopsis for 154700 MARFAN SYNDROME; MFS; Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1; Clinical Synopsis for 161400 NARCOLEPSY; Clinical Synopsis for 176920 PROTEUS SYNDROME; Clinical Synopsis for 190685 DOWN SYNDROME; Clinical Synopsis for 192430 VELOCARDIOFACIAL SYNDROME; Clinical Synopsis for 194050 WILLIAMS-BEUREN SYNDROME; WBS; Clinical Synopsis for 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1; Clinical Synopsis for 230400 GALACTOSEMIA; Clinical Synopsis for 230800 GAUCHER DISEASE, TYPE I; Clinical Synopsis for 272800 TAY-SACHS DISEASE; TSD

May 6, 2002
New Entries:: 606904 MYOCLONIC EPILEPSY, JUVENILE; JME
Changed Entries:: 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1; 180200 RETINOBLASTOMA; RB1; 604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1; 604827 MYOCLONIC EPILEPSY, JUVENILE, 2; EJM2

May 3, 2002
Changed Entries:: 134935 FIBROBLAST GROWTH FACTOR RECEPTOR 4; FGFR4; 142965 HOMEO BOX B4; HOXB4; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 164873 ETS VARIANT GENE 3; ETV3; 179616 RECOMBINATION-ACTIVATING GENE 2; RAG2; 204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3; 236000 HODGKIN LYMPHOMA; 278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 308700 KALLMANN SYNDROME 1; KAL1; 600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3; 600669 EPILEPSY, GENERALIZED, IDIOPATHIC; EGI; 600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1; 603401 ADAPTIN, BETA-3A; AP3B1; 604982 HERMANSKY-PUDLAK SYNDROME GENE 1; HPS1; 606168 DEAD/H BOX 20; DDX20; 606385 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 1; OLIG1; 606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2; 606557 B-CELL CLL/LYMPHOMA 11A; BCL11A; Clinical Synopsis for 118450 ALAGILLE SYNDROME; AGS; Clinical Synopsis for 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; Clinical Synopsis for 154700 MARFAN SYNDROME; MFS

May 2, 2002
New Entries:: 606902 PYGOPUS, DROSOPHILA, HOMOLOG OF, 1; 606903 PYGOPUS, DROSOPHILA, HOMOLOG OF, 2
Changed Entries:: 107300 ANTITHROMBIN III DEFICIENCY; 113705 BREAST CANCER, TYPE 1; BRCA1; 133200 ERYTHROKERATODERMIA VARIABILIS; EKV; 160900 DYSTROPHIA MYOTONICA 1; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 191720 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 2; UMPH2; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ; 600652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4; 602597 B-CELL CLL/LYMPHOMA 9; BCL9; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6; 605291 MOVED TO 191720; 605292 5-PRIME @NUCLEOTIDASE, MITOCHONDRIAL; NT5M; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; Clinical Synopsis for 105830 ANGELMAN SYNDROME; AS; Clinical Synopsis for 107400 PROTEASE INHIBITOR 1; PI; Clinical Synopsis for 143100 HUNTINGTON DISEASE; HD; Clinical Synopsis for 176670 PROGERIA; Clinical Synopsis for 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1

May 1, 2002
New Entries:: 300390 CHOROIDEREMIA GENE; CHM; 606890 GALACTOSYLCERAMIDASE; GALC; 606898 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-6 SUBUNIT; CACNG6; 606899 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-7 SUBUNIT; CACNG7; 606900 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-8 SUBUNIT; CACNG8; 606901 EPSTEIN-BARR VIRUS-INDUCED ZINC FINGER PROTEIN
Changed Entries:: 114480 BREAST CANCER; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 120270 COLLAGEN, TYPE IX, ALPHA-3; COL9A3; 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2; 139900 HANDEDNESS; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176801 PROSAPOSIN; PSAP; 180200 RETINOBLASTOMA; RB1; 181500 SCHIZOPHRENIA; SCZD; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 188400 DIGEORGE SYNDROME; DGS; 192090 CADHERIN 1; CDH1; 192430 VELOCARDIOFACIAL SYNDROME; 194200 WOLFF-PARKINSON-WHITE SYNDROME; 245200 KRABBE DISEASE; 249420 MELNICK-NEEDLES SYNDROME; 253010 MUCOPOLYSACCHARIDOSIS TYPE IVB; 269700 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY; BSCL; 272120 SUDDEN INFANT DEATH SYNDROME; 303100 CHOROIDEREMIA; CHM; 305371 GATA-BINDING PROTEIN 1; GATA1; 309350 MELNICK-NEEDLES OSTEODYSPLASTY; 600048 BREAST CANCER, 11-22 TRANSLOCATION ASSOCIATED; 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 602534 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 23-KD; SNAP23; 602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2; 603099 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 1; AGPAT1; 603100 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604238 SNAIL 1, DROSOPHILA, HOMOLOG OF; SNAI1; 605173 ECTODERMAL-NEURAL CORTEX 1; ENC1; 605365 BREAST CANCER, TYPE 3; 605877 IMMUNOGLOBULIN SUPERFAMILY RECEPTOR TRANSLOCATION-ASSOCIATED GENE; 606166 MOVED TO 603100; 606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7; 606403 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-3 SUBUNIT; CACNG3; 606404 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-4 SUBUNIT; CACNG4; 606405 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-5 SUBUNIT; CACNG5; 606484 MYOTROPHIN; MTPN; 606890 GALACTOSYLCERAMIDASE; GALC; Clinical Synopsis for 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; Clinical Synopsis for 143100 HUNTINGTON DISEASE; HD; Clinical Synopsis for 162200 NEUROFIBROMATOSIS, TYPE I; NF1; Clinical Synopsis for 173900 POLYCYSTIC KIDNEYS; Clinical Synopsis for 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS

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OMIM Update List for May, 2002

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