OMIM Update List for May, 2003

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Nucleotide

Protein

Genome

OMIM Update List for May, 2003

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May 30, 2003
New Entries:: 300437 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG 2; 607838 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTA; Clinical Synopsis for 606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C; Clinical Synopsis for 607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I
Changed Entries:: 126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT; 133430 ESTROGEN RECEPTOR 1; ESR1; 136533 FORKHEAD BOX O1A; FOXO1A; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 252500 MUCOLIPIDOSIS II; 252600 MUCOLIPIDOSIS IIIA; 252605 MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; 252650 MUCOLIPIDOSIS IV; 300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 600253 ARYL HYDROCARBON RECEPTOR; AHR; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600618 ETS VARIANT GENE 6; ETV6; 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B; 600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D; 601484 SELENOPROTEIN P, PLASMA, 1; SEPP1; 601663 ESTROGEN RECEPTOR 2; ESR2; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 603197 NEUROPATHY TARGET ESTERASE; 603235 SELENOPROTEIN W, 1; SEPW1; 604167 CCCTC-BINDING FACTOR; CTCF; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1; 605248 MUCOLIPIN 1; MCOLN1; 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM; 607833 TACHYKININ 4; TAC4; 607838 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT

May 29, 2003
New Entries:: 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; 607833 TACHYKININ 4; TAC4; 607835 SPLICING FACTOR 3B, 14-KD SUBUNIT; 607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; 607837 CLN8 GENE; CLN8; Clinical Synopsis for 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 106210 ANIRIDIA, TYPE II; AN2; 109100 AUTOIMMUNE DISEASE; 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; 123836 CYCLIN B1; CCNB1; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 140300 HASHIMOTO THYROIDITIS; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51; 188400 DIGEORGE SYNDROME; DGS; 192430 VELOCARDIOFACIAL SYNDROME; 193200 VITILIGO; 204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3; 204500 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2; 210600 SECKEL SYNDROME; 210900 BLOOM SYNDROME; BLM; 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 245210 MOVED TO 192430 AND 188400; 277700 WERNER SYNDROME; WRN; 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; 600143 CEROID LIPOFUSCINOSIS, NEURONAL 8; CLN8; 600594 DIGEORGE CRITICAL REGION GENE 2; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1; 601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4; 603303 TRF1-INTERACTING, ANKYRIN-RELATED ADP-RIBOSE POLYMERASE; TNKS; 603528 DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL; 603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 604567 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, ALPHA; DOC2A; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 605590 SPLICING FACTOR 3B, SUBUNIT 1; SF3B1; 605636 MATERNALLY EXPRESSED GENE 3; MEG3; 606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2; 606478 PROTECTION OF TELOMERES 1; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4; 606744 SECKEL SYNDROME 2; SCKL2; 607108 PAIRED BOX GENE 6; PAX6; 607128 TRF1-INTERACTING ANKYRIN-RELATED ADP-RIBOSE POLYMERASE 2; TNKS2; 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; 607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; 607837 CLN8 GENE; CLN8; Clinical Synopsis for 180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA; Clinical Synopsis for 245210 MOVED TO 192430 AND 188400

May 28, 2003
New Entries:: 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; 607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; 607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104310 ALZHEIMER DISEASE 2, LATE-ONSET; AD2; 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 109600 BEETURIA; 109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1; 116806 CATENIN, BETA-1; CTNNB1; 116830 CATHEPSIN G; CTSG; 116860 CEREBRAL CAVERNOUS MALFORMATIONS 1; CCM1; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 120200 COLOBOMA, OCULAR; 120430 COLOBOMA OF OPTIC NERVE; 126063 DIHYDROLIPOAMIDE S-SUCCINYLTRANSFERASE; DLST; 142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C; 142965 HOMEO BOX B4; HOXB4; 150330 LAMIN A/C; LMNA; 151410 BREAKPOINT CLUSTER REGION; BCR; 151660 LIPODYSTROPHY, FAMILIAL PARTIAL; FPLD; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF; 163890 SYNUCLEIN, ALPHA; SNCA; 164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS; 165550 OPTIC NERVE HYPOPLASIA, BILATERAL; 168600 PARKINSON DISEASE; PD; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 180300 RHEUMATOID ARTHRITIS; RA; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191720 5-PRIME,3-PRIME-@NUCLEOTIDASE, CYTOSOLIC; NT5C; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 227650 FANCONI ANEMIA; FA; 308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 600012 UBIQUITIN-CONJUGATING ENZYME E2L 1; UBE2L1; 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A; 600759 PRESENILIN 2; PSEN2; 600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B; 600974 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7; 601250 PEPTIDE METHIONINE SULFOXIDE REDUCTASE; MSRA; 601618 SRY-BOX 18; SOX18; 601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1; 601915 TISSUE INHIBITOR OF METALLOPROTEINASE 4; TIMP4; 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9; 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION; 603197 NEUROPATHY TARGET ESTERASE; 603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1; 603408 FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1; 603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB; 603741 ARACHIDONATE 12-LIPOXYGENASE, R TYPE; ALOX12B; 603816 AXIS INHIBITOR 1; AXIN1; 603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2; 604241 CD2-ASSOCIATED PROTEIN; CD2AP; 604275 CATENIN, DELTA-2; CTNND2; 604515 B-CELL LINKER PROTEIN; BLNK; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1; 604567 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, ALPHA; DOC2A; 604662 CALSENILIN; CSEN; 604839 FK506-BINDING PROTEIN 6; FKBP6; 604872 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 7; PCSK7; 605324 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 2; APPBP2; 605497 CARTILAGE-ASSOCIATED PROTEIN; CRTAP; 605658 INTERLEUKIN 17E; IL17E; 605974 SLU7, S. CEREVISIAE, HOMOLOG OF; 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C; 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A; 606746 INTERLEUKIN 27; IL27; 606966 NEPHRONOPHTHISIS 4; NPHP4; 607108 PAIRED BOX GENE 6; PAX6; 607243 ADAPTOR-RELATED PROTEIN COMPLEX 4, SIGMA-1 SUBUNIT; AP4S1; 607244 ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT; AP4E1; 607559 MAHOGUNIN, RING FINGER 1; MGRN1; 607818 ZINC FINGER PROTEIN 365

May 27, 2003
New Entries:: 607818 ZINC FINGER PROTEIN 365; 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2; 607830 FRAS1 GENE
Changed Entries:: 104310 ALZHEIMER DISEASE 2, LATE-ONSET; AD2; 104311 PRESENILIN 1; PSEN1; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2; 142989 HOMEO BOX D13; HOXD13; 157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP; 164761 RET PROTOONCOGENE; RET; 168600 PARKINSON DISEASE; PD; 176975 PROTEIN KINASE C, EPSILON; PRKCE; 186100 SYNDACTYLY, TYPE III; 191100 TUBEROUS SCLEROSIS; TS; 219000 FRASER SYNDROME; 300017 FILAMIN A; FLNA; 601012 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, N TYPE, ALPHA-1B SUBUNIT; CACNA1B; 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2; 605317 FORKHEAD BOX P2; FOXP2; 605904 ENIGMA-LIKE LIM DOMAIN PROTEIN; 605990 URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO; 607139 FANCONI ANEMIA COMPLEMENTATION GROUP A GENE; FANCA; 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1; 607767 SESTRIN 2; 607818 ZINC FINGER PROTEIN 365; 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2; 607830 FRAS1 GENE

May 23, 2003
New Entries:: 607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1; 607824 HOOK, DROSOPHILA, HOMOLOG OF, 2; 607825 HOOK, DROSOPHILA, HOMOLOG OF, 3; 607826 S-ADENOSYLHOMOCYSTEINE HYDROLASE-LIKE 1; AHCYL1; 607827 OTOPETRIN 2; 607828 OTOPETRIN 3
Changed Entries:: 100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2; 102642 STEROL O-ACYLTRANSFERASE; SOAT; 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 186980 T-COMPLEX 1; TCP1; 203750 ALPHA-METHYLACETOACETICACIDURIA; 207750 APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO; 245300 KURU, SUSCEPTIBILITY TO; 600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD; 602697 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11; 603811 BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1; 604688 A-KINASE ANCHOR PROTEIN 5; AKAP5; 606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2; 607550 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 607691 SAR1A, S. CEREVISIAE, HOMOLOG 1; SARA1; 607782 LUC7, S. CEREVISIAE, HOMOLOG OF; LUC7L; 607793 PETER PAN, DROSOPHILA, HOMOLOG OF; PPAN; 607806 OTOPETRIN 1; 607813 PLASTICITY-RELATED GENE 1; 607820 HOOK, DROSOPHILA, HOMOLOG OF, 1; 607828 OTOPETRIN 3

May 22, 2003
New Entries:: 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C; 607806 OTOPETRIN 1; 607813 PLASTICITY-RELATED GENE 1; 607817 COH1 GENE; COH1; 607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5; 607820 HOOK, DROSOPHILA, HOMOLOG OF, 1; 607821 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37
Changed Entries:: 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1; 147556 INTEGRIN, ALPHA-6; ITGA6; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 176640 PRION PROTEIN; PRNP; 182309 SOLUTE CARRIER FAMILY 34 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 216550 COHEN SYNDROME; COH1; 226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB; 226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY; 245300 KURU; 600970 MYOSIN VI; MYO6; 601253 CAVEOLIN 3; CAV3; 602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4; 602570 JAGGED 2; JAG2; 602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 603009 DYSFERLIN; DYSF; 603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D; 604089 DNAX-ACTIVATION PROTEIN 10; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; 604217 SOLUTE CARRIER FAMILY 34 (SODIUM PHOSPHATE), MEMBER 2; SLC34A2; 605402 B7 HOMOLOG 1; 606481 PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE, A; PIB5PA; 606582 DELTA-LIKE 1; DLL1; 607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; MDC1; 607782 LUC7, S. CEREVISIAE, HOMOLOG OF; LUC7L; 607817 COH1 GENE; COH1; 607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5; 607821 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37

May 21, 2003
New Entries:: 607810 VIRUS INHIBITORY PROTEIN, ENDOPLASMIC RETICULUM-ASSOCIATED, INTERFERON-INDUCIBLE; 607811 p21-ACTIVATED KINASE- AND PHOSPHOLIPASE C-INTERACTING PROTEIN 1; 607814 REGULATOR OF G PROTEIN SIGNALING 9-BINDING PROTEIN; 607815 E2A/PBX1-ACTIVATED GENE IN PRE-B CELLS 1; 607816 RING FINGER PROTEIN 134; RNF134
Changed Entries:: 104310 ALZHEIMER DISEASE 2, LATE-ONSET; AD2; 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107741 APOLIPOPROTEIN E; APOE; 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE; RCM; 121210 FEBRILE SEIZURES; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 147557 INTEGRIN, BETA-4; ITGB4; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 174900 POLYPOSIS, JUVENILE INTESTINAL; 191044 TROPONIN I, CARDIAC; TNNI3; 226650 EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; 226700 EPIDERMOLYSIS BULLOSA LETALIS; 226730 EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA; 300067 LISSENCEPHALY, X-LINKED; 600076 TENSIN; TNS; 601174 IMIDAZOLINE RECEPTOR; 601228 COLORECTAL ADENOMA AND CARCINOMA 1; CRAC1; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 604067 REGULATOR OF G PROTEIN SIGNALING 9; RGS9; 604940 MOVED TO 601228; 605392 FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER; FGFR1OP; 605585 CELL DIVISION CYCLE 40, S. CEREVISIAE, HOMOLOG OF; CDC40; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A

May 20, 2003
New Entries:: 607807 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 13; 607808 NK2, DROSOPHILA, HOMOLOG OF, D; NKX2D
Changed Entries:: 103300 AGLOSSIA-ADACTYLIA; 105150 AMYLOIDOSIS VI; 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED; 107741 APOLIPOPROTEIN E; APOE; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 123803 ACTIVATING TRANSCRIPTION FACTOR 1; ATF1; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 137070 FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS; 146520 HYPOTRICHOSIS SIMPLEX OF SCALP; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 148300 KERATOCONUS; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163950 NOONAN SYNDROME 1; NS1; 165080 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE RELATED; ERG; 191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 219100 CUTIS LAXA; 219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC; 245000 PAPILLON-LEFEVRE SYNDROME; PALS; 264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE; 267750 KNOBLOCH SYNDROME; KNO; 308300 INCONTINENTIA PIGMENTI; IP; 308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI; KFSD; 308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO; 309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 603283 TRIADIN; TRDN; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603434 PHOSPHOPROTEIN ENRICHED IN ASTROCYTES, 15-KD; PEA15; 604213 CHUDLEY-MCCULLOUGH SYNDROME; 604264 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3; 604612 NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B; 607550 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 607787 INTIMAL THICKNESS-RELATED RECEPTOR; 607799 HUNTINGTIN-INTERACTING PROTEIN 14

May 19, 2003
New Entries:: 607799 HUNTINGTIN-INTERACTING PROTEIN 14; 607802 CYCLIN M1; CNNM1; 607803 CYCLIN M2; CNNM2; 607804 CYCLIN M3; CNNM3; 607805 CYCLIN M4; CNNM4
Changed Entries:: 120361 MATRIX METALLOPROTEINASE 9; MMP9; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH; 139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3; 143100 HUNTINGTON DISEASE; HD; 146520 HYPOTRICHOSIS SIMPLEX OF SCALP; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 148041 KERATIN 6A; KRT6A; 155720 MELANOMA, UVEAL; 157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP; 188380 THYMOPOIETIN; TMPO; 236730 UROFACIAL SYNDROME; UFS; 300384 EMERIN; EMD; 600807 ASTHMA; 602593 CORNEODESMOSIN; CDSN; 602659 MENAGE A TROIS 1; MNAT1; 603526 METASTASIS-ASSOCIATED GENE 1; MTA1; 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2; 603811 BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1; 603812 BREAKPOINT CLUSTER REGION PROTEIN 2; 605802 ZINC FINGER HOMEO BOX 1B; ZFHX1B; 607109 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3A;; 607110 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B;; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 607680 ZINC FINGER PROTEIN 363; ZNF363; 607796 PHD FINGER PROTEIN 11; PHF11; 607799 HUNTINGTIN-INTERACTING PROTEIN 14; 607802 CYCLIN M1; CNNM1

May 16, 2003
New Entries:: 300436 MENTAL RETARDATION, X-LINKED 46; MRX46; 607794 MEST INTRONIC TRANSCRIPT 1; MESTIT1; 607795 PRECURSOR mRNA-PROCESSING FACTOR 4, S. CEREVISIAE, HOMOLOG OF; PRPF4; 607796 PHD FINGER PROTEIN 11; PHF11; 607797 SPLICING FACTOR, 38-KD; 607798 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1-LIKE; TAF1L; 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12
Changed Entries:: 107730 APOLIPOPROTEIN B; APOB; 110750 BLOOD GROUP--GERBICH; Ge; 111100 FUCOSYLTRANSFERASE 3; FUT3; 114131 CALCITONIN RECEPTOR; CALCR; 114290 CAMPOMELIC DYSPLASIA; 120200 COLOBOMA, OCULAR; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 134920 FIBROBLAST GROWTH FACTOR 2; FGF2; 137800 GLIOMA OF BRAIN, FAMILIAL; 138945 GRANULIN; GRN; 142000 HEMOGLOBIN--DELTA LOCUS; HBD; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B; 148840 KLEINE-LEVIN HIBERNATION SYNDROME; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 168600 PARKINSON DISEASE; PD; 170280 PERFORIN 1; PRF1; 177720 PSEUDOHYPERKALEMIA, FAMILIAL, DUE TO RED CELL LEAK; 180200 RETINOBLASTOMA; RB1; 180300 RHEUMATOID ARTHRITIS; RA; 180860 SILVER-RUSSELL SYNDROME; SRS; 182100 FUCOSYLTRANSFERASE 2; FUT2; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 194470 ZINC, ELEVATED PLASMA; 208900 ATAXIA-TELANGIECTASIA; AT; 219500 CYSTATHIONINURIA; 245349 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 277420 VITAMIN D-DEPENDENT RICKETS, TYPE II; 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6; 308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI; KFSD; 313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600028 DISTAL-LESS HOMEO BOX 5; DLX5; 600085 PROTEIN-TYROSINE KINASE SYK; SYK; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600308 AQUAPORIN 4; AQP4; 600533 VANG-LIKE 2; VANGL2; 600807 ASTHMA; 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF; 601022 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE; 601029 MESODERM-SPECIFIC TRANSCRIPT, MOUSE, HOMOLOG OF; MEST; 601194 TOLL-LIKE RECEPTOR 1; TLR1; 601253 CAVEOLIN 3; CAV3; 601297 SRY-BOX 15; SOX15; 601603 LYMPHOCYTE CYTOSOLIC PROTEIN 2; LCP2; 601769 VITAMIN D RECEPTOR; VDR; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3; 603947 METASTASIS-ASSOCIATED 1-LIKE 1; MTA1L1; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 604747 SRY-BOX 14; SOX14; 604974 SRY-BOX 21; SOX21; 605116 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 9; 605136 MOVED TO 604974; 605137 MOVED TO 601297; 605150 MOVED TO 601297; 605151 MOVED TO 604747; 605380 FIBROBLAST GROWTH FACTOR 23; FGF23; 605855 ATPase, CLASS V, TYPE 10C; ATP10C; 606095 PEPTIDYL-PROLYL ISOMERASE H; PPIH; 607300 PRECURSOR mRNA-PROCESSING FACTOR 8, S. CEREVISIAE, HOMOLOG OF; PRPF8; 607301 PRECURSOR mRNA-PROCESSING FACTOR 3, S. CEREVISIAE, HOMOLOG OF; 607307 FILAMIN A-INTERACTING PROTEIN 1; FILIP1; 607480 MOVED TO 300434; 607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1; 607709 TIGHT JUNCTION PROTEIN 2; TJP2; 607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF; 607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2; 607795 PRECURSOR mRNA-PROCESSING FACTOR 4, S. CEREVISIAE, HOMOLOG OF; PRPF4

May 15, 2003
New Entries:: 607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 3; CMTDI3; 607792 GERMINAL CENTER-EXPRESSED TRANSCRIPT 2; GCET2; 607793 PETER PAN, DROSOPHILA, HOMOLOG OF; PPAN; Clinical Synopsis for 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; Clinical Synopsis for 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING; Clinical Synopsis for 605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; Clinical Synopsis for 605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; Clinical Synopsis for 606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; Clinical Synopsis for 607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; Clinical Synopsis for 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; Clinical Synopsis for 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; Clinical Synopsis for 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; Clinical Synopsis for 607739 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA; Clinical Synopsis for 607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 3; CMTDI3
Changed Entries:: 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 116960 MORTALITY FACTOR 4; MORF4; 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS; 120980 INTEGRIN, ALPHA-M; ITGAM; 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2; 126650 SOLUTE CARRIER FAMILY 26, MEMBER 3; SLC26A3; 129010 EARLY GROWTH RESPONSE 2; EGR2; 143100 HUNTINGTON DISEASE; HD; 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147520 INOSINE TRIPHOSPHATASE; ITPA; 151510 INTEGRIN, ALPHA-X; ITGAX; 173510 CD36 ANTIGEN; CD36; 173610 SELECTIN P; SELP; 176891 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1; PTPRZ1; 176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1; 179605 RETINAL DEGENERATION, SLOW; RDS; 182452 SOMATOSTATIN RECEPTOR 2; SSTR2; 192974 INTEGRIN, ALPHA-2; ITGA2; 193210 INTEGRIN, ALPHA-V; ITGAV; 251260 NIJMEGEN BREAKAGE SYNDROME; 275350 TRANSCOBALAMIN II DEFICIENCY; 300377 DYSTROPHIN; DMD; 300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5; 300389 RETINITIS PIGMENTOSA 3; RP3; 301500 FABRY DISEASE; 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1; 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 312750 RETT SYNDROME; RTT; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; 600673 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF; 600885 BERLIN BREAKAGE SYNDROME; 601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C; 601392 CHEMOKINE, CC MOTIF, LIGAND 14; CCL14; 601393 CHEMOKINE, CC MOTIF, LIGAND 15; CCL15; 601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 602293 CALCIUM- AND INTEGRIN-BINDING PROTEIN; 602667 NBS1 GENE; NBS1; 602697 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11; 604827 MYOCLONIC EPILEPSY, JUVENILE, 2; EJM2; 605093 LYMPHOCYTE ADAPTOR PROTEIN; 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING; 605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH; 605425 GAP JUNCTION PROTEIN, BETA-4; GJB4; 605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5; 605548 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15; 606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2; 606173 GrpE, E. COLI, HOMOLOG OF, 1; GRPEL1; 606201 WOLFRAM SYNDROME GENE 1; WFS1; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 1; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 2; 606557 B-CELL CLL/LYMPHOMA 11A; BCL11A; 606558 B-CELL CLL/LYMPHOMA 11B; BCL11B; 607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1; 607537 MASTERMIND-LIKE 2; MAML2; 607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; 607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D; 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; 607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; 607734 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML; 607790 LEUKEMIA-ASSOCIATED PROTEIN WITH A CXXC DOMAIN; 607792 GERMINAL CENTER-EXPRESSED TRANSCRIPT 2; GCET2; Clinical Synopsis for 158580 MOTOR NEURONOPATHY, DISTAL HEREDITARY, WITH VOCAL CORD PARALYSIS; Clinical Synopsis for 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; Clinical Synopsis for 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; Clinical Synopsis for 302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2; Clinical Synopsis for 302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3; Clinical Synopsis for 600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV; Clinical Synopsis for 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B; Clinical Synopsis for 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; Clinical Synopsis for 601455 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE; Clinical Synopsis for 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D; Clinical Synopsis for 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; Clinical Synopsis for 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING; Clinical Synopsis for 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 1; Clinical Synopsis for 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 2

May 14, 2003
New Entries:: 607759 INTEGRIN, ALPHA-2B; ITGA2B; 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 607787 INTIMAL THICKNESS-RELATED RECEPTOR; 607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2; 607789 PHD FINGER PROTEIN 3; PHF3; 607790 LEUKEMIA-ASSOCIATED PROTEIN WITH A CXXC DOMAIN; Clinical Synopsis for 601098 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C; CMT1C; Clinical Synopsis for 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 1; Clinical Synopsis for 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 2; Clinical Synopsis for 607678 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D; CMT1D; Clinical Synopsis for 607734 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F
Changed Entries:: 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; F8FD9; 135620 INTEGRIN, ALPHA-5; ITGA5; 135630 INTEGRIN, BETA-1; ITGB1; 138945 GRANULIN; GRN; 138960 COLONY-STIMULATING FACTOR 2; CSF2; 139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3; 142980 HOMEO BOX D3; HOXD3; 143890 HYPERCHOLESTEROLEMIA, FAMILIAL; 144010 HYPERCHOLESTEROLEMIA, FAMILIAL, TYPE B; 147557 INTEGRIN, BETA-4; ITGB4; 151290 CD57 ANTIGEN; CD57; 160700 MYOPIA 2; MYP2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163950 NOONAN SYNDROME 1; NS1; 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2; 171200 THIOUREA TASTING; 173470 INTEGRIN, BETA-3; ITGB3; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 187800 GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT; 227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D; 268100 ENHANCED S-CONE SYNDROME; ESCS; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600812 SPLICING FACTOR, ARGININE/SERINE-RICH, 1; SFRS1; 601393 CHEMOKINE, CC MOTIF, LIGAND 15; CCL15; 601567 LECTIN, MANNOSE-BINDING, 1; LMAN1; 602630 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF; 603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2; 603776 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; HCHOLA3; 605242 USH1C GENE; USH1C; 605370 GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; 606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607759 INTEGRIN, ALPHA-2B; ITGA2B; Clinical Synopsis for 118200 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B; CMT1B; Clinical Synopsis for 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; Clinical Synopsis for 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A; Clinical Synopsis for 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS; Clinical Synopsis for 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS; Clinical Synopsis for 159900 MYOCLONIC DYSTONIA; Clinical Synopsis for 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP; Clinical Synopsis for 180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA; Clinical Synopsis for 602124 DYSTONIA 7, TORSION; DYT7

May 13, 2003
New Entries:: 607767 SESTRIN 2; 607768 SESTRIN 3; 607782 LUC7, S. CEREVISIAE, HOMOLOG OF; LUC7L; 607783 MESODERM DEVELOPMENT CANDIDATE GENE 2; MESDC2; 607784 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 4; ABCG4
Changed Entries:: 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; 121850 CORNEAL FLECK DYSTROPHY; 123850 MOVED TO 132700; 131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET; 134640 FATTY ACID-BINDING PROTEIN 2; FABP2; 137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 147557 INTEGRIN, BETA-4; ITGB4; 147683 INTERLEUKIN 13; IL13; 150292 LAMININ, GAMMA-2; LAMC2; 152422 MOVED TO 141800; 152424 MOVED TO 141900; 164762 V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG; CRK; 185430 CLUSTERIN; CLU; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; 250950 3-@METHYLGLUTACONICACIDURIA, TYPE I; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH; 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR; 602432 OPTINEURIN; OPTN; 602694 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 604324 ACNE, ADULT; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1; 605018 CYLINDROMATOSIS GENE; CYLD1; 605066 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 605425 GAP JUNCTION PROTEIN, BETA-4; GJB4; 606103 p53-ACTIVATED GENE 26; 606325 HETEROTAXY, VISCERAL, 3; 607432 LISSENCEPHALY 1; LIS1; 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1; 607697 SET-BINDING FACTOR 2; SBF2

May 13, 2003
New Entries:: 607677 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I; 607734 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F; 607736 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J; 607776 SIN3, YEAST, HOMOLOG OF, A; SIN3A; 607777 SIN3, YEAST, HOMOLOG OF, B; SIN3B; 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD; 607779 MEMBRANE PROGESTIN RECEPTOR, ALPHA; 607780 CHROMOSOME 6 OPEN READING FRAME 33; C6ORF33; 607781 MEMBRANE PROGESTIN RECEPTOR, GAMMA
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 118200 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B; CMT1B; 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A; 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS; 159440 MYELIN PROTEIN ZERO; MPZ; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 162375 MOVED TO 118200; 168600 PARKINSON DISEASE; PD; 209500 ATRICHIA WITH PAPULAR LESIONS; APL; 209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1; 256855 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING; 277440 VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300255 O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT; 300379 PUTATIVE RING ZINC FINGER PROTEIN NY-REN-43 ANTIGEN; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 516002 COMPLEX I, SUBUNIT ND3; MTND3; 556500 PARKINSON DISEASE; 600020 MAX-INTERACTING PROTEIN 1; MXI1; 600661 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE B; MEF2B; 600726 INDIAN HEDGEHOG; IHH; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601241 HISTONE DEACETYLASE 1; HDAC1; 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; 601769 VITAMIN D RECEPTOR; VDR; 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR; 602686 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1; MAD1L1; 602949 SIN3-ASSOCIATED POLYPEPTIDE, 18-KD; SAP18; 602976 MAX-LIKE PROTEIN X; MLX; 603039 MAX-BINDING PROTEIN; MNT; 603378 SIN3-ASSOCIATED POLYPEPTIDE, 30-KD; SAP30; 605164 HISTONE DEACETYLASE 2; HDAC2; 607226 HISTONE DEACETYLASE 11; HDAC11; 607677 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I; 607736 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J; 607776 SIN3, YEAST, HOMOLOG OF, A; SIN3A; 607777 SIN3, YEAST, HOMOLOG OF, B; SIN3B; Clinical Synopsis for 246200 LEPRECHAUNISM

May 9, 2003
New Entries:: 607697 SET-BINDING FACTOR 2; SBF2; 607706 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2G; 607731 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2H; 607739 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA; 607772 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 1;; 607773 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 2;; 607774 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 3;; 607775 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 4;
Changed Entries:: 114480 BREAST CANCER; 121850 CORNEAL FLECK DYSTROPHY; 135600 FIBRONECTIN 1; FN1; 139250 GROWTH HORMONE 1; GH1; 150330 LAMIN A/C; LMNA; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2; 167870 PANIC DISORDER SYNDROME; 173610 SELECTIN P; SELP; 176300 TRANSTHYRETIN; TTR; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 187360 TEMPORAL ARTERITIS; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; 303800 COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH; 600738 SELECTIN P LIGAND; SELPLG; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; 601455 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE; 603009 DYSFERLIN; DYSF; 603325 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9B; PPP1R9B; 604504 THYROID HORMONE RECEPTOR INTERACTOR 10; TRIP10; 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING; 605468 CDC42 EFFECTOR PROTEIN 4; CDC42EP4; 605737 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 7; BIRC7; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 607697 SET-BINDING FACTOR 2; SBF2; 607731 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2H; 607766 CENTAURIN, BETA-2; CENTB2

May 8, 2003
New Entries:: 607761 NEPHRIN-LIKE 2; 607762 NEPHRIN-LIKE 3; 607763 CENTAURIN, BETA-1; CENTB1; 607764 3-@BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7; 607765 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4; PFIC4; 607766 CENTAURIN, BETA-2; CENTB2; 607769 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4;; 607770 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 2; 607771 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 3; Clinical Synopsis for 607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 116901 CDC2-ASSOCIATED PROTEIN CKS2; CKS2; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 173470 INTEGRIN, BETA-3; ITGB3; 176640 PRION PROTEIN; PRNP; 191170 TUMOR PROTEIN p53; TP53; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 194460 ALPHA-2-GLYCOPROTEIN, ZINC; AZGP1; 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1; 230800 GAUCHER DISEASE, TYPE I; 231100 GIANT CELL HEPATITIS, NEONATAL; 245300 KURU; 253220 MUCOPOLYSACCHARIDOSIS TYPE VII; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 600112 DYNEIN, CYTOPLASMIC, HEAVY CHAIN 1; DNCH1; 600554 INTERLEUKIN 15; IL15; 601960 CHEMOKINE, CC MOTIF, LIGAND 20; CCL20; 602191 E74-LIKE FACTOR 3; ELF3; 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1; 602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2; 604318 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1; 605221 FUS-INTERACTING PROTEIN 1; FUSIP1; 605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 1; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 2; 607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; 607400 MUCOLIPIN 3; 607428 KIN OF IRRE-LIKE; KIRREL; 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO; 607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU; 607671 DYSTONIA 13, TORSION; DYT13; 607757 CHIBBY; CBY; 607761 NEPHRIN-LIKE 2; 607763 CENTAURIN, BETA-1; CENTB1; 607769 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4;; Clinical Synopsis for 181000 SARCOIDOSIS; Clinical Synopsis for 240500 COMMON VARIABLE IMMUNODEFICIENCY; Clinical Synopsis for 607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU

May 7, 2003
New Entries:: 607756 ALPHA-AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE-PHOSPHOPANTETHEINYL; 607757 CHIBBY; CBY; 607758 CATENIN, BETA-INTERACTING PROTEIN 1; CTNNBIP1; 607760 DNA TOPOISOMERASE II-BINDING PROTEIN 1
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 116806 CATENIN, BETA-1; CTNNB1; 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE; 134390 COAGULATION FACTOR III; F3; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 135150 BIRT-HOGG-DUBE SYNDROME; BHD; 137570 SOLUTE CARRIER FAMILY 20, MEMBER 1; SLC20A1; 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1; 142461 HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2; 147684 INTERLEUKIN 14; IL14; 147950 KALLMANN SYNDROME 2; KAL2; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 160900 DYSTROPHIA MYOTONICA 1; 164761 RET PROTOONCOGENE; RET; 168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1; 171200 THIOUREA TASTING; 185860 SYNAPTIC VESICLE GLYCOPROTEIN 2A; SV2A; 185861 SYNAPTIC VESICLE GLYCOPROTEIN 2B; SV2B; 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 191160 TUMOR NECROSIS FACTOR; TNF; 208900 ATAXIA-TELANGIECTASIA; AT; 215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD; 229300 FRIEDREICH ATAXIA 1; FRDA; 300180 ARYLSULFATASE E; ARSE; 300254 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1; 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1; 600076 TENSIN; TNS; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600646 PROTEIN C RECEPTOR; PROCR; 601022 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE; 602113 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2; 602322 TELOMERASE RNA COMPONENT; TERC; 602654 FERM, ARHGEF, AND PLECKSTRIN DOMAIN-CONTAINING PROTEIN 1; FARP1; 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1; 604084 ZINC FINGER PROTEIN 151; ZNF151; 604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1; 604251 CALCINEURIN-BINDING PROTEIN 1; 604478 CHROMOBOX HOMOLOG 5; CBX5; 605113 ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE; AASS; 605314 HISTONE DEACETYLASE 4; HDAC4; 605516 CADHERIN 23; CDH23; 606543 HISTONE DEACETYLASE 9; HDAC9; 606928 BONE MINERAL DENSITY VARIATION 3; 607215 NEPHROCYSTIN 4; NPHP4; 607261 ELLIS-VAN CREVELD SYNDROME GENE 2; EVC2; 607311 PROGESTERONE RECEPTOR; PGR; 607411 PATENT DUCTUS ARTERIOSUS; 607667 CATENIN, ALPHA-3; CTNNA3; 607758 CATENIN, BETA-INTERACTING PROTEIN 1; CTNNBIP1; 607760 DNA TOPOISOMERASE II-BINDING PROTEIN 1

May 6, 2003
New Entries:: 607748 HYPERCHOLANEMIA, FAMILIAL; FHCA; 607750 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3C;; 607751 TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38; 607752 URACIL-DNA GLYCOSYLASE 2; UNG2; 607753 SINGLE-STRAND-SELECTIVE MONOFUNCTIONAL URACIL-DNA GLYCOSYLASE 1; 607754 MAKORIN 1; MKRN1; 607755 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 2; MAPK8IP2; Clinical Synopsis for 607616 NIEMANN-PICK DISEASE, TYPE B; Clinical Synopsis for 607625 NIEMANN-PICK DISEASE, TYPE C2
Changed Entries:: 116806 CATENIN, BETA-1; CTNNB1; 118910 CHROMOGRANIN A; CHGA; 131222 ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED; ECGF1; 139320 GNAS COMPLEX LOCUS; GNAS; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 142410 TRANSCRIPTION FACTOR 1; TCF1; 142965 HOMEO BOX B4; HOXB4; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 171200 THIOUREA TASTING; 173120 SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1; 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51; 179836 REPLICATION PROTEIN A2, 32-KD; RPA2; 189972 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 1; GTF2H1; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191525 URACIL-DNA GLYCOSYLASE; UNG; 261600 PHENYLKETONURIA; 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; 600130 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE 1; APOBEC1; 600393 FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1; 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1; 601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR; 601665 OBESITY; 602688 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A/B; HNRPAB; 602938 BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE; BAAT; 603408 FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1; 603615 RAD54, S. CEREVISIAE, HOMOLOG-LIKE; RAD54L; 603816 AXIS INHIBITOR 1; AXIN1; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1; 604277 SPASTIC PARAPLEGIA 4 GENE; SPG4; 604402 SIALYLTRANSFERASE 9; SIAT9; 604641 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1; MAPK8IP1; 604797 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 2;; 605290 OPTIC ATROPHY 1 GENE; OPA1; 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A; 607109 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3A;; 607110 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B;; 607111 SPASTIC PARAPLEGIA 20 GENE; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 607412 PALATE, LUNG, AND NASAL EPITHELIUM CARCINOMA-ASSOCIATED PROTEIN; PLUNC; 607709 TIGHT JUNCTION PROTEIN 2; TJP2; 607750 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3C;; Clinical Synopsis for 257200 NIEMANN-PICK DISEASE, TYPE A; Clinical Synopsis for 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1

May 2, 2003
New Entries:: 607746 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY C, MEMBER 1;; 607747 MIG2- AND FILAMIN-INTERACTING PROTEIN; 607749 TRIGGER OF MITOTIC ENTRY 1
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 116806 CATENIN, BETA-1; CTNNB1; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 127700 DYSLEXIA, SPECIFIC, 1; DYX1; 140300 HASHIMOTO THYROIDITIS; 147720 INTERLEUKIN 1-BETA; IL1B; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 176000 PORPHYRIA, ACUTE INTERMITTENT; 176640 PRION PROTEIN; PRNP; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 275000 GRAVES DISEASE; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600533 VANG-LIKE 2; VANGL2; 600725 SONIC HEDGEHOG; SHH; 601015 NPC2 GENE; NPC2; 601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12; 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1; 602914 AQUAPORIN 9; AQP9; 603079 CHROMOBOX HOMOLOG 4, DROSOPHILA POLYCOMB CLASS; CBX4; 603582 TOPOISOMERASE, DNA, III, BETA; TOP3B; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 606070 MYOPATHY, DISTAL 2; MPD2; 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 2; 607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF

May 1, 2003
New Entries:: 607740 UBIQUITIN-SPECIFIC PROTEASE 32; 607741 TBC1D3 GENE; 607742 KERATIN 24; KRT24; 607743 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2; 607744 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 3; 607745 EPILEPSY, BENIGN NEONATAL-INFANTILE; Clinical Synopsis for 607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
Changed Entries:: 101900 ACROKERATOSIS VERRUCIFORMIS; AKV; 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 138360 GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2; 138380 GLUTATHIONE S-TRANSFERASE, MU-2; GSTM2; 138391 GLUTATHIONE S-TRANSFERASE 6; 146730 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1; 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3; 161000 NAEGELI SYNDROME; 161015 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1; NDUFV1; 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA; 182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA-1 SUBUNIT; SCN2A1; 186810 T-CELL ANTIGEN RECEPTOR, DELTA SUBUNIT; TCRD; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA; 259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG; 269720 EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE; 300377 DYSTROPHIN; DMD; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 602115 FIBROBLAST GROWTH FACTOR 10; FGF10; 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1; 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; MADH7; 604084 ZINC FINGER PROTEIN 151; ZNF151; 604334 UBIQUITIN-SPECIFIC PROTEASE 6; USP6; 604592 T CELL IMMUNE REGULATOR 1; TCIRG1; 607106 MINOR HISTOCOMPATIBILITY 13; HM13; 607742 KERATIN 24; KRT24; 607743 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2; 607744 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 3

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OMIM Update List for May, 2003

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