OMIM Update List for March, 2003

PubMed

Nucleotide

Protein

Genome

OMIM Update List for March, 2003

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March 28, 2003
New Entries:: 607666 ANGIOPOIETIN-LIKE 5; ANGPTL5; 607667 CATENIN, ALPHA-3; CTNNA3
Changed Entries:: 114025 CATENIN, ALPHA-2; CTNNA2; 116805 CATENIN, ALPHA-1; CTNNA1; 128700 PREAURICULAR FISTULAE, CONGENITAL; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 139350 KERATIN 1; KRT1; 142750 H4 HISTONE FAMILY, MEMBER N; H4FN; 144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK; 151660 LIPODYSTROPHY, FAMILIAL PARTIAL; FPLD; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 164980 FIBROBLAST GROWTH FACTOR 4; FGF4; 168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1; 177900 PSORIASIS SUSCEPTIBILITY; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 268000 RETINITIS PIGMENTOSA; RP; 300180 ARYLSULFATASE E; ARSE; 302940 MOVED TO 302950; 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1; 309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1; 600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK; 601257 DEAD/H BOX 1; DDX1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C; 602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMKG; 602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC; 603793 REMOVED FROM DATABASE; 605050 MOVED TO 142750; 606933 TYROSINASE; TYR; 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B; 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS; 607606 KERATIN 9; KRT9; 607666 ANGIOPOIETIN-LIKE 5; ANGPTL5; Clinical Synopsis for 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID; Clinical Synopsis for 302940 MOVED TO 302950; Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS

March 27, 2003
New Entries:: 607657 CYSTATHIONINE GAMMA-LYASE; CTH; 607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS
Changed Entries:: 108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY; 123829 CYCLIN-DEPENDENT KINASE 4; CDK4; 148067 KERATIN 16; KRT16; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 166700 BUSCHKE-OLLENDORFF SYNDROME; 167415 PAIRED BOX GENE 8; PAX8; 179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B; 187270 TELOMERE REVERSE TRANSCRIPTASE; TERT; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 219500 CYSTATHIONINURIA; 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID; 300229 VARIABLY CHARGED, X CHROMOSOME; VCX; 313700 ANDROGEN RECEPTOR; AR; 400024 AZOOSPERMIA FACTOR C; 415000 AZOOSPERMIA FACTOR 1; AZF1; 600389 MEPRIN, BETA SUBUNIT; MEP1B; 601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 602713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9; 602920 LIM AND SH3 PROTEIN 1; LASP1; 603050 SPECTRIN SH3 DOMAIN-BINDING PROTEIN 1; SSH3BP1; 603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1; 603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C; 603639 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17; 605370 GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; 605757 PELOTA, DROSOPHILA, HOMOLOG OF; PELO; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1; 607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS

March 26, 2003
New Entries:: 300426 MENTAL RETARDATION, X-LINKED, 34; MRX34; 300427 NEUROLIGIN 4; 300428 MENTAL RETARDATION, X-LINKED, 2; MRX2; 300429 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9; 607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME; 607659 ELL-ASSOCIATED FACTOR 2; 607660 SERINE/THREONINE PROTEIN KINASE 22C; STK22C; 607661 SPERM-ASSOCIATED ANTIGEN 10; SPAG10; 607662 SPERMATOGENESIS-ASSOCIATED PROTEIN 2; SPATA2; 607663 DEAD/H BOX 25; DDX25; Clinical Synopsis for 607624 GRISCELLI SYNDROME, TYPE 2; GS2
Changed Entries:: 107265 CD19 ANTIGEN; CD19; 117210 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT PURE; 118450 ALAGILLE SYNDROME; AGS; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 120900 COMPLEMENT COMPONENT 5 DEFICIENCY; 147920 KABUKI SYNDROME; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 155720 MELANOMA, UVEAL; 182452 SOMATOSTATIN RECEPTOR 2; SSTR2; 182453 SOMATOSTATIN RECEPTOR 3; SSTR3; 182455 SOMATOSTATIN RECEPTOR 5; SSTR5; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1; 216360 COACH SYNDROME; 219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 300143 MENTAL RETARDATION, X-LINKED, 21; MRX21; 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1; 300229 VARIABLY CHARGED, X CHROMOSOME; VCX; 300292 FORKHEAD BOX P3; FOXP3; 300426 MENTAL RETARDATION, X-LINKED, 34; MRX34; 304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY; 308850 LARYNGEAL ABDUCTOR PARALYSIS; 309470 SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS; 309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1; 309541 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 3; MRX3; 600223 SPINOCEREBELLAR ATAXIA 4; SCA4; 600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601920 JAGGED 1; JAG1; 602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS; 604365 PROMININ 1; PROM1; 605234 VOMERONASAL 1 RECEPTOR 1; VN1R1; 605912 MATRIX, EXTRACELLULAR, PHOSPHOGLYCOPROTEIN; MEPE; 607556 TWIST, DROSOPHILA, HOMOLOG OF, 2; TWIST2; 607660 SERINE/THREONINE PROTEIN KINASE 22C; STK22C; Clinical Synopsis for 214450 GRISCELLI SYNDROME, TYPE 1; GS1; Clinical Synopsis for 256710 ELEJALDE SYNDROME

March 25, 2003
New Entries:: 607654 KERATOSIS PALMOPLANTARIS STRIATA III; 607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; 607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME
Changed Entries:: 109480 BASIGIN; BSG; 125647 DESMOPLAKIN; DSP; 125670 DESMOGLEIN 1; DSG1; 137290 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2; 139350 KERATIN 1; KRT1; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1; 191170 TUMOR PROTEIN p53; TP53; 192090 CADHERIN 1; CDH1; 204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; 300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 601090 FORKHEAD BOX CI; FOXC1; 601997 BH3-INTERACTING DOMAIN DEATH AGONIST; BID; 602315 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3; 603820 G PROTEIN-COUPLED RECEPTOR 40; GPR40; 604229 PETERS ANOMALY; 605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607624 GRISCELLI SYNDROME, TYPE 2; GS2; Clinical Synopsis for 607475 BOTHNIA RETINAL DYSTROPHY

March 24, 2003
New Entries:: 607648 SERINE/THREONINE PROTEIN KINASE 39; STK39; 607649 GREY-LETHAL, MOUSE, HOMOLOG OF; 607650 DEFENSIN, BETA, 118; DEFB118; 607651 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 1;; 607652 SERINE/THREONINE PROTEIN KINASE 36; STK36; 607653 RAS HOMOLOG GENE FAMILY, MEMBER J; ARHJ
Changed Entries:: 114550 HEPATOCELLULAR CARCINOMA; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 120330 PAPILLORENAL SYNDROME; 133239 ESOPHAGEAL CANCER; 139395 GUSTDUCIN, ALPHA POLYPEPTIDE; 147558 INTEGRIN, BETA-6; ITGB6; 151990 LIPOPOLYSACCHARIDE-BINDING PROTEIN; LBP; 155720 MELANOMA, UVEAL; 167409 PAIRED BOX GENE 2; PAX2; 172405 PHOSPHOLAMBAN; PLN; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 189973 TRANSCRIPTION FACTOR ELF 1; ELF1; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 193210 INTEGRIN, ALPHA-V; ITGAV; 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE; 600764 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1; 600803 CHOLELITHIASIS; 601046 MATRIX METALLOPROTEINASE 12; MMP12; 602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9; 603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF; 606746 SF20 GENE; 607108 PAIRED BOX GENE 6; PAX6

March 23, 2003
Changed Entries:: 182290 SMITH-MAGENIS SYNDROME; SMS; 600725 SONIC HEDGEHOG; SHH; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1

March 21, 2003
New Entries:: 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 607643 FASCIN, SEA URCHIN, HOMOLOG OF, 2; FSCN2; 607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1; 607645 D4S234E GENE; D4S234E; 607646 ZINC FINGER PROTEIN 67, MOUSE, HOMOLOG OF; ZFP67; 607647 PLASMALEMMA VESICLE-ASSOCIATED PROTEIN; PLVAP
Changed Entries:: 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1; 153440 LYMPHOTOXIN-ALPHA; LTA; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 156225 LAMININ, ALPHA-2; LAMA2; 184429 SRY-BOX 2; SOX2; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 206900 ANOPHTHALMOS, TRUE OR PRIMARY; 227400 FACTOR V DEFICIENCY; 300017 FILAMIN A; FLNA; 300049 HETEROTOPIA, PERIVENTRICULAR; 304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2; 305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD; 309350 MELNICK-NEEDLES SYNDROME; MNS; 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1; 312861 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C; 600201 AGOUTI SIGNALING PROTEIN; ASIP; 601098 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C; CMT1C; 601517 ATAXIN 2; ATX2; 602442 INTERSECTIN 1; ITSN1; 603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF; 607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1

March 20, 2003
New Entries:: 607635 CARBOXYPEPTIDASE A4; CPA4; 607637 EMX2 OPPOSITE STRAND; 607641 LOWER MOTOR NEURON DISEASE, PROGRESSIVE, WITHOUT SENSORY SYMPTOMS; Clinical Synopsis for 607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD; Clinical Synopsis for 607578 BREATH-HOLDING SPELLS
Changed Entries:: 105200 AMYLOIDOSIS, FAMILIAL VISCERAL; 105850 ANGIOGENIN; ANG; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 147950 KALLMANN SYNDROME 2; KAL2; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 164160 LEPTIN; LEP; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 194355 X BOX-BINDING PROTEIN 1; XBP1; 212750 CELIAC DISEASE; CD; 303100 CHOROIDEREMIA; CHM; 308700 KALLMANN SYNDROME 1; KAL1; 312600 RETINITIS PIGMENTOSA 2; RP2; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 601143 DYNACTIN 1; DCTN1; 601230 DERMATITIS HERPETIFORMIS, FAMILIAL; 603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2; 604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1; 604639 NEUREXOPHILIN 1; NXPH1; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1; 607358 AUTOIMMUNE REGULATOR; AIRE; Clinical Synopsis for 103950 ALPHA-2-MACROGLOBULIN; A2M; Clinical Synopsis for 180000 RETINAL ARTERIES, TORTUOSITY OF; Clinical Synopsis for 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

March 19, 2003
New Entries:: 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I; OPTA1; 607636 VAN BUCHEM DISEASE, TYPE 2; 607638 DEOXYCYTIDYLATE DEAMINASE; DCTD; 607639 PROTEIN WITH 4 GROUP B SCAVENGER RECEPTOR CYSTEINE-RICH DOMAINS; SRCRB4D; Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS; Clinical Synopsis for 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
Changed Entries:: 124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D; 134790 FERRITIN LIGHT CHAIN; FTL; 137215 GASTRIC CANCER; 144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 160900 DYSTROPHIA MYOTONICA 1; 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; OPTA2; 176807 PROSTATE CANCER; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 239100 HYPEROSTOSIS CORTICALIS GENERALISATA; 300278 NYCTALOPIN; 300500 ALBINISM, OCULAR, TYPE I; OA1; 301500 FABRY DISEASE; 303100 CHOROIDEREMIA; CHM; 310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1; 600929 CRYSTALLIN, BETA-B1; CRYBB1; 601400 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603726 FIBROBLAST GROWTH FACTOR 18; FGF18; 605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6; 606933 TYROSINASE; TYR; 607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME; 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; Clinical Synopsis for 203300 HERMANSKY-PUDLAK SYNDROME; HPS

March 18, 2003
New Entries:: 607633 XANTHINE DEHYDROGENASE; XDH
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 104300 ALZHEIMER DISEASE; AD; 109200 ALOPECIA, ANDROGENETIC; 109565 B-CELL LYMPHOMA 6; BCL6; 113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN; 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1; 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3; 160777 MYOSIN VA; MYO5A; 164761 RET PROTOONCOGENE; RET; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN; 167420 PAIRED MESODERM HOMEO BOX 1; PMX1; 176300 TRANSTHYRETIN; TTR; 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT; 190196 TRANSGLUTAMINASE 2; TGM2; 190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2; 191305 TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK; 193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 210600 SECKEL SYNDROME; 214450 GRISCELLI SYNDROME, TYPE 1; GS1; 218040 COSTELLO SYNDROME; 220150 HYPOURICEMIA, RENAL; 242050 HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY; 242300 ICHTHYOSIS, LAMELLAR, 1; LI1; 256710 ELEJALDE SYNDROME; 278300 XANTHINURIA, TYPE I; 300192 SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2; 300202 SEDLIN; SEDL; 312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1; 313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18; SS18; 600810 PHOSPHOLIPASE C, BETA-4; PLCB4; 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601481 MYOSIN X; MYO10; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602270 ANTIOXIDANT PROTEIN 1; ATOX1; 602833 H4 HISTONE FAMILY, MEMBER M; HIST1H4I; 603197 NEUROPATHY TARGET ESTERASE; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603592 XANTHINURIA, TYPE II; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1; 603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2; 603851 PAIRED MESODERM HOMEO BOX 2B; PMX2B; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604675 PAIRED-RELATED HOMEO BOX GENE 2; PRRX2; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607624 GRISCELLI SYNDROME, TYPE 2; GS2; 607633 XANTHINE DEHYDROGENASE; XDH

March 17, 2003
New Entries:: 607629 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, A; 607630 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, B; 607632 PRESENILIN ENHANCER 2, C. ELEGANS, HOMOLOG OF; Clinical Synopsis for 607475 BOTHNIA RETINAL DYSTROPHY
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 116952 CELL DIVISION CYCLE 42; CDC42; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 176640 PRION PROTEIN; PRNP; 180000 RETINAL ARTERIES, TORTUOSITY OF; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600759 PRESENILIN 2; PSEN2; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 601380 EPHRIN A4; EFNA4; 601381 EPHRIN A3; EFNA3; 602188 EPHRIN RECEPTOR EphA4; EPHA4; 602442 INTERSECTIN 1; ITSN1; 603876 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 604933 MutY, E. COLI, HOMOLOG OF; MUTYH; 605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL; 605254 NICASTRIN; 605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; ARHQ; 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY; 607475 BOTHNIA RETINAL DYSTROPHY; 607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

March 14, 2003
New Entries:: 607624 GRISCELLI SYNDROME, TYPE 2; GS2; 607627 BREAST CANCER- AND SALIVARY GLAND-EXPRESSED GENE
Changed Entries:: 160777 MYOSIN VA; MYO5A; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 214450 GRISCELLI SYNDROME, TYPE 1; GS1; 256710 ELEJALDE SYNDROME; 264700 PSEUDOVITAMIN D DEFICIENCY RICKETS; 268000 RETINITIS PIGMENTOSA; RP; 305371 GATA-BINDING PROTEIN 1; GATA1; 502000 AGING; 535000 LEBER OPTIC ATROPHY; 600140 CREB-BINDING PROTEIN; CREBBP; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601602 TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C; 601613 BURKITT LYMPHOMA RECEPTOR 1; BLR1; 602054 T-BOX 1; TBX1; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13; 605530 UPF3, YEAST, HOMOLOG OF, A; UPF3A; Clinical Synopsis for 208900 ATAXIA-TELANGIECTASIA; AT; Clinical Synopsis for 607594 ICOS DEFICIENCY

March 13, 2003
New Entries:: 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1; 607616 NIEMANN-PICK DISEASE, TYPE B; 607623 NPC1 GENE; NPC1; 607625 NIEMANN-PICK DISEASE, TYPE C2; 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; Clinical Synopsis for 257250 NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY
Changed Entries:: 114350 NUCLEOPORIN, 214-KD; NUP214; 134790 FERRITIN LIGHT CHAIN; FTL; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL; 148067 KERATIN 16; KRT16; 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1; 166710 OSTEOPOROSIS, INVOLUTIONAL; 180380 RHODOPSIN; RHO; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 257200 NIEMANN-PICK DISEASE, TYPE A; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 276903 MYOSIN VIIA; MYO7A; 300413 MUSCLEBLIND-LIKE PROTEIN 3; MBNL3; 600118 WARBURG MICRO SYNDROME 1; WARBM1; 600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB; 600764 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1; 601015 NPC2 GENE; NPC2; 601248 BRIDGING INTEGRATOR 1; BIN1; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101; 601652 MYOCILIN; MYOC; 601873 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE; GALGT; 602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1; 602776 REV3, S. CEREVISIAE, HOMOLOG OF; REV3L; 603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1; 603417 RAB-INTERACTING FACTOR; RABIF; 603498 SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2; 604094 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 2; MAD2L2; 604653 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 604982 HPS1 GENE; HPS1; 605147 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1; 605242 USH1C GENE; USH1C; 605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4; 605516 CADHERIN 23; CDH23; 605586 IMPORTIN 7; IPO7; 605600 IMPORTIN 8; IPO8; 605664 KINESIN FAMILY MEMBER 20A; KIF20A; 605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3; 606118 HPS3 GENE; HPS3; 606134 REV1, S. CEREVISIAE, HOMOLOG OF; REV1L; 606140 EXPORTIN 7; XPO7; 606516 MUSCLEBLIND-LIKE PROTEIN 1; MBNL1; 606682 HPS4 GENE; HPS4; 606928 BONE MINERAL DENSITY VARIATION 3; 607048 START DOMAIN-CONTAINING PROTEIN 3; 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS; 607327 MUSCLEBLIND-LIKE PROTEIN 2; MBNL2; 607521 HPS5 GENE; HPS5; 607522 HPS6 GENE; 607616 NIEMANN-PICK DISEASE, TYPE B; Clinical Synopsis for 129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE; Clinical Synopsis for 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; Clinical Synopsis for 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT; Clinical Synopsis for 190320 TRICHODENTOOSSEOUS SYNDROME; Clinical Synopsis for 246800 LIPIDOSIS, JUVENILE DYSTONIC; Clinical Synopsis for 257050 NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA; Clinical Synopsis for 601015 NPC2 GENE; NPC2

March 12, 2003
Changed Entries:: 138322 GLUTATHIONE PEROXIDASE 4; GPX4; 139350 KERATIN 1; KRT1; 143470 HYPERALPHALIPOPROTEINEMIA; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 163890 SYNUCLEIN, ALPHA; SNCA; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 188840 TITIN; TTN; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 201810 ADRENAL HYPERPLASIA II; 209901 BBS1 GENE; BBS1; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 300298 UPF3, YEAST, HOMOLOG OF, B; UPF3B; 502000 AGING; 600194 KERATIN 2A; KRT2A; 600962 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK; 602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1; 602714 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12; 603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1; 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604653 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 604918 PICCOLO, MOUSE, HOMOLOG OF; PCLO; 604982 HERMANSKY-PUDLAK SYNDROME GENE 1; HPS1; 605529 UPF2, YEAST, HOMOLOG OF; UPF2; 606118 HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3; 606682 HERMANSKY-PUDLAK SYNDROME GENE 4; HPS4; 607223 SPARC-RELATED MODULAR CALCIUM-BINDING PROTEIN 2; SMOC2; 607261 ELLIS-VAN CREVELD SYNDROME GENE 2; EVC2; 607521 HERMANSKY-PUDLAK SYNDROME GENE 5; HPS5; 607522 HERMANSKY-PUDLAK SYNDROME GENE 6

March 11, 2003
New Entries:: 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607620 COLLECTIN 10; COLEC10
Changed Entries:: 102577 ACTIVATOR 1, 37-KD SUBUNIT; RFC4; 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 102579 REPLICATION FACTOR C, 140-KD SUBUNIT; RFC1; 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS; 107650 APNEA, OBSTRUCTIVE SLEEP; 113705 BREAST CANCER, TYPE 1; BRCA1; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 116947 CELL DIVISION CYCLE 25A; CDC25A; 116953 CYCLIN-DEPENDENT KINASE 2; CDK2; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 126420 TOPOISOMERASE, DNA, I; TOP1; 129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2; 134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB; 135630 INTEGRIN, BETA-1; ITGB1; 139350 KERATIN 1; KRT1; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM; 148070 KERATIN 18; KRT18; 148370 KERATOLYTIC WINTER ERYTHEMA; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 186960 T-CELL LEUKEMIA/LYMPHOMA 1A; TCL1A; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 191343 RIBOSOMAL PROTEIN S27a; RPS27A; 203750 ALPHA-METHYLACETOACETICACIDURIA; 211980 LUNG CANCER; 235200 HEMOCHROMATOSIS; HFE; 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; 251260 NIJMEGEN BREAKAGE SYNDROME; 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY; 270420 SODIUM DIARRHEA, CONGENITAL; 300142 p21-ACTIVATED KINASE 3; PAK3; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 313470 CD99 ANTIGEN; CD99; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB; 600404 REPLICATION FACTOR C, SUBUNIT 2; RFC2; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A; 600885 BERLIN BREAKAGE SYNDROME; 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601235 DEAD/H BOX 10; DDX10; 601448 NUCLEAR PROTEIN, ATAXIA-TELANGIECTASIA LOCUS; NPAT; 601625 ADP-RIBOSYLTRANSFERASE 1; ART1; 601741 CULLIN 5; CUL5; 602166 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-2 SUBUNIT; AP3B2; 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE;; 602797 H2A HISTONE FAMILY, MEMBER Q; H2AFQ; 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1; 603139 RAD17, S. POMBE, HOMOLOG OF; RAD17; 603465 CELL DIVISION CYCLE 45, S. CEREVISIAE, HOMOLOG-LIKE; CDC45L; 603760 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF; HUS1; 603930 GEPHYRIN; GPH; 603931 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E; ATP6V0E; 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50; 604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11; 605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1; 606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR; 606829 FRDA GENE; FRDA; 607330 LATHOSTEROLOSIS; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; 607594 ICOS DEFICIENCY; Clinical Synopsis for 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD; Clinical Synopsis for 151100 LEOPARD SYNDROME; Clinical Synopsis for 208900 ATAXIA-TELANGIECTASIA; AT; Clinical Synopsis for 607594 ICOS DEFICIENCY

March 10, 2003
New Entries:: 607619 NONERYTHROID PROTEIN 4.1, OVARY TYPE; 607620 COLLECTIN 10; COLEC10; 607621 COLLECTIN 12; COLEC12; 607622 PHOSPHOMEVALONATE KINASE; PMVK
Changed Entries:: 113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 139350 KERATIN 1; KRT1; 144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK; 146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM; 148067 KERATIN 16; KRT16; 148700 KERATOSIS PALMOPLANTARIS STRIATA I; 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1; 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD; 178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2; 180200 RETINOBLASTOMA; RB1; 227500 FACTOR VII DEFICIENCY; 235200 HEMOCHROMATOSIS; HFE; 265120 PULMONARY ALVEOLAR PROTEINOSIS; 277900 WILSON DISEASE; 600962 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK; 602479 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1; 602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1; 602727 CHLORIDE CHANNEL 7; CLCN7; 602879 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 1; EPB41L1; 603221 MYOPIA 3; MYP3; 603237 ERYTHROCYTE MEMBRANE PROTEIN 4.1-LIKE 2; EPB41L2; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 605331 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 3; EPB41L3; 605516 CADHERIN 23; CDH23; 605565 RESISTIN; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES; Clinical Synopsis for 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES

March 7, 2003
New Entries:: 607606 KERATIN 9; KRT9; 607609 PEPTIDYL-PROLYL ISOMERASE-LIKE 4; PPIL4; 607610 PHOSPHOLIPID SCRAMBLASE 2; PLSCR2; 607611 PHOSPHOLIPID SCRAMBLASE 3; PLSCR3; 607612 PHOSPHOLIPID SCRAMBLASE 4; PLSCR4; 607613 NUCLEOPORIN, 133-KD; NUP133; 607614 NUCLEOPORIN, 160-KD; NUP160; 607615 NUCLEOPORIN-LIKE 1; NUPL1; 607617 NUCLEOPORIN, 107-KD; 607618 DEAD/H BOX 28; DDX28
Changed Entries:: 110600 BLOOD GROUP--DOMBROCK SYSTEM; DO; 113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 139350 KERATIN 1; KRT1; 144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK; 144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS; 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; 176270 PRADER-WILLI SYNDROME; PWS; 188400 DIGEORGE SYNDROME; DGS; 209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1; 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME; 268300 ROBERTS SYNDROME; RBS; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600194 KERATIN 2A; KRT2A; 600202 DYSLEXIA, SPECIFIC, 2; DYX2; 602727 CHLORIDE CHANNEL 7; CLCN7; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 604170 PHOSPHOLIPID SCRAMBLASE 1; PLSCR1; 604640 T-CELL LEUKEMIA HOMEO BOX 3; TLX3; 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; 606463 GLUCOSIDASE, ACID BETA; GBA; 607613 NUCLEOPORIN, 133-KD; NUP133; 607614 NUCLEOPORIN, 160-KD; NUP160

March 6, 2003
New Entries:: 607584 SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; 607595 INFANTILE HEMIPARESIS, RETINAL ARTERIOLAR TORTUOSITY, AND LEUKOENCEPHALOPATHY,; 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS; 607603 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 4; KCNG4; 607604 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2; 607605 GLUTATHIONE S-TRANSFERASE, ALPHA-5; GSTA5; 607607 NUCLEOPORIN, 54-KD; NUP54; Clinical Synopsis for 607584 SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; Clinical Synopsis for 607595 INFANTILE HEMIPARESIS, RETINAL ARTERIOLAR TORTUOSITY, AND LEUKOENCEPHALOPATHY,
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 119530 OROFACIAL CLEFT 1; OFC1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 126065 CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1; 130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1; 130010 EHLERS-DANLOS SYNDROME, TYPE II; EDS2; 130020 EHLERS-DANLOS SYNDROME, TYPE III; 131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET; 138359 GLUTATHIONE S-TRANSFERASE, ALPHA-1; GSTA1; 138360 GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2; 139350 KERATIN 1; KRT1; 139600 HAIRY ELBOWS; 148080 KERATIN 10; KRT10; 209901 BBS1 GENE; BBS1; 227260 FACIAL ECTODERMAL DYSPLASIA; 300126 DYSKERIN; DKC1; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;; 604087 CYTOCHROME P450, FAMILY 46, SUBFAMILY A, POLYPEPTIDE 1; CYP46A1; 604250 HEMOCHROMATOSIS, TYPE 3; HFE3; 604720 TRANSFERRIN RECEPTOR 2; TFR2; 605449 GLUTATHIONE S-TRANSFERASE, ALPHA-3; GSTA3; 605450 GLUTATHIONE S-TRANSFERASE, ALPHA-4; GSTA4; 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606168 DEAD/H BOX 20; DDX20; 606767 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3; 607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3; 607556 DERMIS-EXPRESSED PROTEIN 1, MOUSE, HOMOLOG OF; 607584 SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; 607604 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2; Clinical Synopsis for 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

March 5, 2003
New Entries:: 607600 EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC; 607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1
Changed Entries:: 103390 AHNAK NUCLEOPROTEIN; AHNAK; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 119530 OROFACIAL CLEFT 1; OFC1; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1; 131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 147290 INHIBIN, BETA A; INHBA; 147920 KABUKI SYNDROME; 182290 SMITH-MAGENIS SYNDROME; SMS; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190470 TRIPEPTIDYL PEPTIDASE II; TPP2; 191130 TUBULIN, BETA; TUBB; 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY; 215140 CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE; 216550 COHEN SYNDROME; COH1; 600386 INHIBITOR OF DNA BINDING 2; ID2; 601214 NAXOS DISEASE; 601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1; 605035 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1; 605044 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 8; CRSP8; 605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; 606058 cAMP-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR II; 606525 SLIT-ROBO GTPase-ACTIVATING PROTEIN, RHO, 3; 606767 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3; 606869 HEXOSAMINIDASE A; HEXA

March 4, 2003
New Entries:: 607594 ICOS DEFICIENCY; 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE I; 607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES; 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; 607599 RETINOL DEHYDROGENASE 10; RDH10; Clinical Synopsis for 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES; Clinical Synopsis for 607594 ICOS DEFICIENCY
Changed Entries:: 107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1; 107650 APNEA, OBSTRUCTIVE SLEEP; 108300 STICKLER SYNDROME, TYPE I; STL1; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 130080 EHLERS-DANLOS SYNDROME, TYPE VIII; 134390 COAGULATION FACTOR III; F3; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 139600 HAIRY ELBOWS; 139900 HAND SKILL, RELATIVE; HSR; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 173510 CD36 ANTIGEN; CD36; 176920 PROTEUS SYNDROME; 188040 THROMBOMODULIN; THBD; 188400 DIGEORGE SYNDROME; DGS; 189971 E2F TRANSCRIPTION FACTOR 1; E2F1; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 192320 VASOACTIVE INTESTINAL PEPTIDE; VIP; 192430 VELOCARDIOFACIAL SYNDROME; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 209900 BARDET-BIEDL SYNDROME; BBS; 240500 COMMON VARIABLE IMMUNODEFICIENCY; 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; 266500 REFSUM DISEASE; 266510 REFSUM DISEASE, INFANTILE FORM; 268220 RHABDOMYOSARCOMA 2; RMS2; 269250 SCHNECKENBECKEN DYSPLASIA; 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 300205 EMOPAMIL-BINDING PROTEIN; EBP; 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2; 303600 COFFIN-LOWRY SYNDROME; CLS; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600615 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7; LGALS7; 600659 E2F TRANSCRIPTION FACTOR 4; E2F4; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7; 602576 LUNATIC FRINGE; LFNG; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1; 604558 INDUCIBLE COSTIMULATOR; ICOS; 605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605717 B7 HOMOLOG 2; 605802 ZINC FINGER HOMEO BOX 1B; ZFHX1B; 606039 CHEMOKINE RECEPTOR HM74; 606767 POTASSIUM VOLTAGE-GATED CHANNEL, SUBFAMILY G; MEMBER 3; KCNG3; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607594 ICOS DEFICIENCY; 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; Clinical Synopsis for 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; Clinical Synopsis for 241200 BARTTER SYNDROME; Clinical Synopsis for 607323 DUANE-RADIAL RAY SYNDROME; DRRS

March 3, 2003
New Entries:: 300424 RETINITIS PIGMENTOSA 23; RP23
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 106210 ANIRIDIA, TYPE II; AN2; 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1; 109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 116952 CELL DIVISION CYCLE 42; CDC42; 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; FEOM1; 140300 HASHIMOTO THYROIDITIS; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 147670 INSULIN RECEPTOR; INSR; 147681 INTERLEUKIN 11; IL11; 162323 TACHYKININ RECEPTOR 1; TACR1; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 172430 ENOLASE 1; ENO1; 174050 POLYCYSTIC LIVER DISEASE; PCLD; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ; 180200 RETINOBLASTOMA; RB1; 180901 RYANODINE RECEPTOR 1; RYR1; 187360 TEMPORAL ARTERITIS; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 192090 CADHERIN 1; CDH1; 225500 ELLIS-VAN CREVELD SYNDROME; EVC; 229600 FRUCTOSE INTOLERANCE, HEREDITARY; 242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE; 261100 MEGALOBLASTIC ANEMIA 1; MGA1; 300202 SEDLIN; SEDL; 300241 G PROTEIN-COUPLED RECEPTOR 34; GPR34; 300379 PUTATIVE RING ZINC FINGER PROTEIN NY-REN-43 ANTIGEN; 300424 RETINITIS PIGMENTOSA 23; RP23; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600450 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2; 600451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4; 600896 G PROTEIN-COUPLED RECEPTOR 14; GPR14; 601107 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2; ABCC2; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5; 602098 POLO-LIKE KINASE; PLK; 602115 FIBROBLAST GROWTH FACTOR 10; FGF10; 602395 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL; 603247 SOLUTE CARRIER FAMILY 27, MEMBER 2; SLC27A2; 603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 603820 G PROTEIN-COUPLED RECEPTOR 40; GPR40; 604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1; 604479 SIRTUIN 1; SIRT1; 604629 MATRIX METALLOPROTEINASE 20; MMP20; 605147 CHONDROMODULIN I; 605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4; 605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18; 605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6; 605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS; 605799 AMNIONLESS, MOUSE, HOMOLOG OF; AMN; 606751 TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5; 607140 ANGIOID STREAKS; 607172 LKB1-INTERACTING PROTEIN 1; 607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A; 607590 BBS7 GENE; BBS7

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OMIM Update List for March, 2003

March 28, 2003

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