OMIM Update List for March, 2006

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Nucleotide

Protein

Genome

OMIM Update List for March, 2006

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March 31, 2006
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 142989 HOMEOBOX D13; HOXD13; 165090 RELATED RAS VIRAL ONCOGENE HOMOLOG; RRAS; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 186000 SYNDACTYLY, TYPE II; 186300 SYNDACTYLY, TYPE V; 190000 TRANSFERRIN; TF; 191170 TUMOR PROTEIN p53; TP53; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC; 224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 300144 GLUTAMATE DEHYDROGENASE 2; GLUD2; 600288 FORKHEAD BOX A2; FOXA2; 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 600759 PRESENILIN 2; PSEN2; 601159 CHEMOKINE, CC MOTIF, RECEPTOR 1; CCR1; 601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5; 603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2; 604322 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT; 604653 SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1; 604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 604937 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605254 NICASTRIN; NCSTN; 605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET; 606016 KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1; 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606272 CYSTINOSIN; CTNS; 607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12; 607465 CODANIN 1; CDAN1; 607563 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 608146 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7

March 30, 2006
New Entries:: 610020 TBC1 DOMAIN FAMILY, MEMBER 10A; TBC1D10A; 610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7
Changed Entries:: 107940 ARRESTIN, BETA, 1; ARRB1; 115500 CATALASE; CAT; 125220 DEFENSIN, ALPHA, 1; DEFA1; 133100 ERYTHROCYTOSIS, FAMILIAL; 138130 GLUTAMATE DEHYDROGENASE 1; GLUD1; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 166780 OTOFACIOCERVICAL SYNDROME; 176960 PROTEIN KINASE C, ALPHA; PRKCA; 176977 PROTEIN KINASE C, DELTA; PRKCD; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 239000 PAGET DISEASE, JUVENILE; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 600038 MEGAKARYOCTYE-ASSOCIATED TYROSINE KINASE; MATK; 600039 BCL2-LIKE 1; BCL2L1; 600472 DEFENSIN, ALPHA, 5; DEFA5; 601653 EYES ABSENT 1; EYA1; 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1; 604522 DEFENSIN, ALPHA, 3; DEFA3; 606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1; 608414 PHOSPHOLIPASE C, EPSILON-1; PLCE1; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 610018 SOLO GENE

March 29, 2006
New Entries:: 610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2; 610018 SOLO GENE; 610019 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 107400 PROTEASE INHIBITOR 1; PI; 107680 APOLIPOPROTEIN A-I; APOA1; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 123580 CRYSTALLIN, ALPHA-A; CRYAA; 134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT; 138290 GLUTAMATE-AMMONIA LIGASE; GLUL; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH; 143100 HUNTINGTON DISEASE; HD; 147571 INTERFERON-INDUCED PROTEIN IFI-15K; G1P2; 147620 INTERLEUKIN 6; IL6; 147683 INTERLEUKIN 13; IL13; 148820 WAARDENBURG SYNDROME, TYPE III; WS3; 150330 LAMIN A/C; LMNA; 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR; 155550 SILVER, MOUSE, HOMOLOG OF; SILV; 156535 METHYL-CpG-BINDING DOMAIN PROTEIN 1; MBD1; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 164060 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 1; NAP1L1; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 177020 PROTEINASE 3; PRTN3; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 186400 SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL; 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1; 189905 TRANSCOBALAMIN I; TCN1; 190685 DOWN SYNDROME; 229200 EHLERS-DANLOS SYNDROME, TYPE VIB; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 263400 ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN; 300384 EMERIN; EMD; 300391 AMELOGENIN; AMELX; 311800 PHOSPHOGLYCERATE KINASE 1; PGK1; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600725 SONIC HEDGEHOG; SHH; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 602212 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1; 602648 CHEMOKINE-BINDING PROTEIN 2; CCBP2; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604213 CHUDLEY-MCCULLOUGH SYNDROME; 605166 HISTONE DEACETYLASE 3; HDAC3; 606001 INTERLEUKIN 32; IL32; 606064 TUMOR ENDOTHELIAL MARKER 1; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 607154 ALLERGIC RHINITIS; 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV; 608162 V-SET DOMAIN-CONTAINING T-CELL ACTIVATION INHIBITOR 1; VTCN1; 608537 VHL GENE; VHL; 609342 GASTRIC INTRINSIC FACTOR; GIF; 610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2; 610018 SOLO GENE

March 28, 2006
New Entries:: 610012 SULFATASE 1; SULF1; 610013 SULFATASE 2; SULF2; 610015 GLUTAMINE DEFICIENCY, CONGENITAL; 610016 MICRO RNA 132; MIRN132
Changed Entries:: 118423 CHIMERIN 1; CHN1; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 123580 CRYSTALLIN, ALPHA-A; CRYAA; 126150 HEPARIN-BINDING EGF-LIKE GROWTH FACTOR; HBEGF; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 138130 GLUTAMATE DEHYDROGENASE 1; GLUD1; 138290 GLUTAMATE-AMMONIA LIGASE; GLUL; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2; ETS2; 186400 SYNOSTOSES, TARSAL, CARPAL AND DIGITAL; 186500 MULTIPLE SYNOSTOSES SYNDROME TYPE 1; SYNS1; 189923 TRANSFER RNA GLUTAMINE 2; TRQ2; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 235730 MOWAT-WILSON SYNDROME; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 311550 PCTAIRE PROTEIN KINASE 1; PCTK1; 313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE; SAT; 600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1; 600957 ANTI-MULLERIAN HORMONE; AMH; 603419 SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN,; 604144 SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9; 604479 SIRTUIN 1; SIRT1; 604666 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 4; MAP4K4; 604824 KLOTHO; KL; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6; 608541 RHO GTPase INVOLVED IN BETA-CATENIN, N-CADHERIN, AND NMDA RECEPTOR; 608844 ENDONUCLEASE VIII-LIKE 1; NEIL1; 609269 KIAA0319 GENE; 609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11; 609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 609949 G PROTEIN-COUPLED RECEPTOR 77; GPR77; 610015 GLUTAMINE DEFICIENCY, CONGENITAL; Clinical Synopsis for 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; Clinical Synopsis for 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1

March 27, 2006
New Entries:: 300586 ARYLSULFATASE H; ARSH; 610007 LIMB REGION 1 HOMOLOG-LIKE; LMBR1L; 610008 ARYLSULFATASE G; ARSG; 610009 ARYLSULFATASE I; ARSI; 610010 ARYLSULFATASE J; ARSJ; 610011 ARYLSULFATASE K; ARSK
Changed Entries:: 104614 SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID; 120420 COLONY-STIMULATING FACTOR 1; CSF1; 136440 FOLLICULAR LYMPHOMA VARIANT TRANSLOCATION 1; FVT1; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 201810 ADRENAL HYPERPLASIA II; 220100 CYSTINURIA; 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1; 600065 INTEGRIN, BETA-2; ITGB2; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 603526 METASTASIS-ASSOCIATED GENE 1; MTA1; 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO; 608522 HEPATITIS B VIRUS X-ASSOCIATED PROTEIN; HBXAP; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 609830 ABDOMINAL BODY FAT DISTRIBUTION; 610007 LIMB REGION 1 HOMOLOG-LIKE; LMBR1L

March 24, 2006
New Entries:: 610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT; 610004 COLLAGEN, TYPE XXV, ALPHA-1; COL25A1; 610005 TRAF2- AND NCK-INTERACTING KINASE; TNIK
Changed Entries:: 116840 CATHEPSIN D; CTSD; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 147720 INTERLEUKIN 1-BETA; IL1B; 176430 PREMATURE CENTROMERE DIVISION; PCD; 184755 STEROL CARRIER PROTEIN 2; SCP2; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3; 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4, AUTOSOMAL RECESSIVE; CLN4; 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2; 204690 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE, IG; AI1G; 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1; 256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5; 300127 OLIGOPHRENIN 1; OPHN1; 300143 MENTAL RETARDATION, X-LINKED 21; MRX21; 300391 AMELOGENIN; AMELX; 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE; 301200 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1; 600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8; 600573 TAF7 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600680 MOVED TO 256730; 600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1; 600748 TESTIS-ENHANCED GENE TRANSCRIPT; TEGT; 601544 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3; 601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3; 603298 PALMITOYL-PROTEIN THIOESTERASE 2; PPT2; 603306 TRANSCRIPTION FACTOR 21; TCF21; 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2; 603814 RING-BOX 1; RBX1; 604931 CORTISONE REDUCTASE DEFICIENCY; 605051 CANNABINOID RECEPTOR 2; CNR2; 606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 607042 CLN3 GENE; CLN3; 607837 CLN8 GENE; CLN8; 610002 COLLAGEN, TYPE XXI, ALPHA-1; COL21A1; 610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT

March 23, 2006
New Entries:: 609999 TRANSMEMBRANE PROTEIN 90A; 610000 CENTROSOMAL PROTEIN, 55-KD; CEP55; 610001 ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY; 610002 COLLAGEN, TYPE XXI, ALPHA-1; COL21A1
Changed Entries:: 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 131195 ENDOGLIN; ENG; 135750 LAURIN-SANDROW SYNDROME; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 157900 MOEBIUS SYNDROME; MBS; 164160 LEPTIN; LEP; 166250 OSTEOGLOPHONIC DYSPLASIA; OGD; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY; 191170 TUMOR PROTEIN p53; TP53; 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC; 248810 MOVED TO 248800; 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; 269160 SCHIZENCEPHALY; 300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2; 300143 MENTAL RETARDATION, X-LINKED 21; MRX21; 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1; 300241 G PROTEIN-COUPLED RECEPTOR 34; GPR34; 300391 AMELOGENIN; AMELX; 300426 MOVED TO 300143; 301100 MOVED TO 301200; 301200 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1; 301201 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2; 309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 313700 ANDROGEN RECEPTOR; AR; 590015 TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID; MTTD; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1; 601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS; 601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2; 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1; 602361 GRACILE BONE DYSPLASIA; 602440 AMYOTROPHY, MONOMELIC; 602535 MARSHALL-SMITH SYNDROME; 603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4; 606725 CLN6 GENE; CLN6; 606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT; 607461 DYMECLIN; DYM; 609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1; 609994 MYOPIA 11; 609999 TRANSMEMBRANE PROTEIN 90A; 610000 CENTROSOMAL PROTEIN, 55-KD; CEP55; 610001 ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY; Clinical Synopsis for 248810 MOVED TO 248800; Clinical Synopsis for 301100 MOVED TO 301200

March 22, 2006
New Entries:: 300585 ZINC FINGER PROTEIN 673; ZNF673; 609989 METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES, NORMAL HAIR,; 609990 TRICHOSCYPHODYSPLASIA; 609991 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; FNDC1; 609992 PROCESSING OF PRECURSOR 5, S. CEREVISIAE, HOMOLOG OF; POP5; 609993 OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE; 609994 MYOPIA 11; 609995 MYOPIA 12; 609996 COLLAGEN, TYPE XXVIII, ALPHA-1; COL28A1; 609997 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 2; HINT2; 609998 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 3; HINT3
Changed Entries:: 102300 RESTLESS LEGS SYNDROME 1; 105650 DIAMOND-BLACKFAN ANEMIA; DBA; 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1; 109390 MOVED TO 301845; 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6; 146530 MOVED TO 301845; 148860 MOVED TO 601076; 148870 MOVED TO 118100; 150330 LAMIN A/C; LMNA; 167870 PANIC DISORDER 1; PAND1; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 179030 PYROPHOSPHATASE, INORGANIC, 1; PPA1; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 188470 THYROID CARCINOMA, FOLLICULAR; FTC; 192950 VERTICAL TALUS, CONGENITAL; CVT; 193700 FREEMAN-SHELDON SYNDROME; FSS; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 227600 FACTOR X DEFICIENCY; 232500 GLYCOGEN STORAGE DISEASE IV; 235200 HEMOCHROMATOSIS; HFE; 239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA; 250215 METAPHYSEAL ACROSCYPHODYSPLASIA; 251600 MICROPHTHALMOS, AUTOSOMAL RECESSIVE; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 266150 PYRUVATE CARBOXYLASE DEFICIENCY; 300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2; 300578 Xp11.3 DELETION SYNDROME; 300579 KIAA1202 GENE; 306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600528 CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A; 600588 MOVED TO 188025; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601148 SPERM MITOCHONDRIA-ASSOCIATED CYSTEINE-RICH PROTEIN; SMCP; 601314 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1; HINT1; 601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS; 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; 601698 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N, POLYPEPTIDE 2; PTPRN2; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS; 605353 GHRELIN; GHRL; 606113 PROCESSING OF PRECURSOR 7, S. CEREVISIAE, HOMOLOG OF; POP7; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 606350 APRATAXIN; APTX; 607872 MONOSOMY 1p36 SYNDROME; 608445 SPEECH-SOUND DISORDER; 608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO; 608649 ICHTHYOSIS PREMATURITY SYNDROME; 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL; 608908 MYOPIA 6; 609029 EMANUEL SYNDROME; 609164 UMBILICUS, FAMILIAL FLAT; 609289 SYNCOPE, FAMILIAL NEUROCARDIOGENIC; 609363 COLLOID CYSTS OF THIRD VENTRICLE; 609581 LATERAL MENINGOCELE SYNDROME; 609828 FIBRONECTIN TYPE III AND SPRY DOMAINS-CONTAINING PROTEIN 1; FSD1; 609991 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; FNDC1; Clinical Synopsis for 109390 MOVED TO 301845; Clinical Synopsis for 146530 MOVED TO 301845; Clinical Synopsis for 148860 MOVED TO 601076; Clinical Synopsis for 148870 MOVED TO 118100; Clinical Synopsis for 600588 MOVED TO 188025

March 21, 2006
New Entries:: 609986 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 6; CARD6; 609987 STIMULATED BY RETINOIC ACID 8, MOUSE, HOMOLOG OF; 609988 PYROPHOSPHATASE, INORGANIC, 2; PPA2
Changed Entries:: 100070 AORTIC ANEURYSM, ABDOMINAL; 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 103280 H19 GENE; H19; 109760 5-@HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A; 115430 CARPAL TUNNEL SYNDROME; CTS1; 123831 CYCLIN-DEPENDENT KINASE 5; CDK5; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 151520 LEUKOCYTE TYROSINE KINASE; LTK; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 179030 PYROPHOSPHATASE, INORGANIC, 1; PPA1; 180860 SILVER-RUSSELL SYNDROME; SRS; 180902 RYANODINE RECEPTOR 2; RYR2; 182125 SEPIAPTERIN REDUCTASE; SPR; 232300 GLYCOGEN STORAGE DISEASE II; 235200 HEMOCHROMATOSIS; HFE; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; 267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS; 516003 COMPLEX I, SUBUNIT ND4; MTND4; 535000 LEBER OPTIC ATROPHY; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8; 601689 TAF4B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1; 601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 603460 CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 1; CDK5R1; 607042 CLN3 GENE; CLN3; 607837 CLN8 GENE; CLN8; 607998 CLN2 GENE; CLN2; 608102 CLN5 GENE; CLN5; 608226 NANOS, DROSOPHILA, HOMOLOG OF, 1; NANOS1; 608259 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 3; IGF2BP3; 608288 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 1; IGF2BP1; 608289 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 2; IGF2BP2; 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12; 608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL; 609055 CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9; 609830 ABDOMINAL BODY FAT DISTRIBUTION, MODIFIER OF; 609962 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER E; CLEC4E; 609982 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, A; VPS4A

March 20, 2006
New Entries:: 300583 VESTIGIAL-LIKE 1; VGLL1; 300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA; 609979 VESTIGIAL-LIKE 2; VGLL2; 609980 VESTIGIAL-LIKE 3; VGLL3; 609981 NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; 609982 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, A; VPS4A; 609983 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, B; VPS4B; 609984 ZWILCH, DROSOPHILA, HOMOLOG OF; ZWILCH; 609985 PANIC DISORDER 3
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107773 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 2; NR2F2; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 138130 GLUTAMATE DEHYDROGENASE 1; GLUD1; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 142340 DIAPHRAGMATIC HERNIA 1; DIH1; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 167870 PANIC DISORDER 1; PAND1; 174700 POLYDACTYLY, PREAXIAL IV; 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY; 300583 VESTIGIAL-LIKE 1; VGLL1; 300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1; 604667 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION; CADPS; 606486 CHROMATIN-MODIFYING PROTEIN 1B; CHMP1B; 606762 HYPERINSULINISM-HYPERAMMONEMIA SYNDROME; 608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1; 609113 TELOMERE LENGTH, MEAN LEUKOCYTE; 609981 NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; 609982 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, A; VPS4A; 609985 PANIC DISORDER 3; Clinical Synopsis for 276900 USHER SYNDROME, TYPE I

March 17, 2006
New Entries:: 609972 ACYL-CoA THIOESTERASE 2; ACOT2; 609973 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 609974 CADHERIN 9; CDH9; 609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4; 609976 HYPOXIA-INDUCIBLE FACTOR 3, ALPHA SUBUNIT; HIF3A; 609977 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 8; CDCA8; 609978 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2; CADPS2
Changed Entries:: 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 138079 GLUCOKINASE; GCK; 146700 ICHTHYOSIS VULGARIS; 165720 OSTEOARTHRITIS; 170280 PERFORIN 1; PRF1; 186500 MULTIPLE SYNOSTOSES SYNDROME TYPE 1; SYNS1; 204690 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE, IG; AI1G; 207770 APROSENCEPHALY SYNDROME; 212720 MARTSOLF SYNDROME; 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA; 253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD; 256000 LEIGH SYNDROME; LS; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 276901 USHER SYNDROME, TYPE IIA; USH2A; 301200 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE, IE1; AI1E1; 301201 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE, IE2, AI1E2; 313700 ANDROGEN RECEPTOR; AR; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HAD; 601663 ESTROGEN RECEPTOR 2; ESR2; 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4; 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA; 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION; 602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3; 602536 RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1; 602587 ACYL-CoA THIOESTERASE 7; ACOT7; 602783 PARAPLEGIN; SPG7; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603242 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER B; CLEC2B; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 604463 CD160 ANTIGEN; CD160; 604720 TRANSFERRIN RECEPTOR 2; TFR2; 604987 C-TYPE LECTIN DOMAIN FAMILY 5, MEMBER A; CLEC5A; 605659 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER D; CLEC2D; 605999 C-TYPE LECTIN DOMAIN FAMILY 10, MEMBER A; CLEC10A; 606264 C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A; 606782 C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER A; CLEC1A; 606783 C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER B; CLEC1B; 606803 ACYL-CoA THIOESTERASE 11; ACOT11; 607440 FCMD GENE; FCMD; 607623 NPC1 GENE; NPC1; 608123 ACYL-CoA THIOESTERASE 8; ACOT8; 608400 USH2A GENE; USH2A; 608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1; 609275 RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2; 609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5; 609972 ACYL-CoA THIOESTERASE 2; ACOT2

March 16, 2006
New Entries:: 609963 CHONDROITIN SULFATE SYNTHASE 3; 609964 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER D; CLEC4D; 609965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 53; DFNA53; 609966 GAMETOGENETIN, MOUSE, HOMOLOG OF; GGN; 609967 B-CELL NOVEL PROTEIN 1; 609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5; 609969 SUPRABASIN; 609970 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 2; HES2; 609971 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 3; HES3
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 101400 SAETHRE-CHOTZEN SYNDROME; SCS; 108360 ASIALOGLYCOPROTEIN RECEPTOR 1; ASGR1; 108361 ASIALOGLYCOPROTEIN RECEPTOR 2; ASGR2; 138079 GLUCOKINASE; GCK; 147670 INSULIN RECEPTOR; INSR; 147791 JACOBSEN SYNDROME; JBS; 151445 Fc FRAGMENT OF IgE, LOW AFFINITY II, RECEPTOR FOR; FCER2; 158170 MONOSOMY 9p SYNDROME; 167220 PACMAN DYSPLASIA; 182210 SHPRINTZEN OMPHALOCELE SYNDROME; 188400 DIGEORGE SYNDROME; DGS; 192430 VELOCARDIOFACIAL SYNDROME; 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 248810 MOVED TO 248800; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 300127 OLIGOPHRENIN 1; OPHN1; 300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,; 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3; 601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HAD; 601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2; 602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3; 604150 POLYMERASE II, RNA, SUBUNIT J; POLR2J; 604672 CD209 ANTIGEN; CD209; 604862 CD207 ANTIGEN; CD207; 605306 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER A; CLEC4A; 605718 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 4, S. CEREVISIAE,; 606351 ESPIN, MOUSE, HOMOLOG OF; ESPN; 606677 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER C; CLEC4C; 607042 CLN3 GENE; CLN3; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607348 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 5; HES5; 607440 FCMD GENE; FCMD; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607837 CLN8 GENE; CLN8; 607901 UNC112-RELATED PROTEIN 2; 607958 SYNTAXIN-BINDING PROTEIN 6; STXBP6; 607998 CLN2 GENE; CLN2; 608060 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 4; 608177 EXOSTOSIN 1; EXT1; 609625 CHROMOSOME 10q DELETION SYNDROME; 609962 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER E; CLEC4E; 609963 CHONDROITIN SULFATE SYNTHASE 3; Clinical Synopsis for 204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3; Clinical Synopsis for 204300 CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4; Clinical Synopsis for 204500 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2; Clinical Synopsis for 256730 CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1; Clinical Synopsis for 256731 CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5; Clinical Synopsis for 600143 CEROID LIPOFUSCINOSIS, NEURONAL 8; CLN8; Clinical Synopsis for 601780 CEROID LIPOFUSCINOSIS, NEURONAL, LATE INFANTILE, VARIANT

March 15, 2006
New Entries:: 300578 Xp11.3 DELETION SYNDROME; 609940 MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY; 609959 MYELOID-ASSOCIATED DIFFERENTIATION MARKER; MYADM; 609960 KIAA0020 GENE; KIAA0020; 609961 MINOR HISTOCOMPATIBILITY ANTIGEN HB-1; 609962 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER E; CLEC4E
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 101400 SAETHRE-CHOTZEN SYNDROME; SCS; 119530 OROFACIAL CLEFT 1; OFC1; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 124092 INTERLEUKIN 10; IL10; 125647 DESMOPLAKIN; DSP; 162700 NEUTROPENIA, CHRONIC FAMILIAL; 164350 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE 1; OAS1; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA; 176916 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, BETA ISOFORM; PPP2CB; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 188020 THROMBOCYTOPENIA, CYCLIC; 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT; 188860 T-LYMPHOCYTE MATURATION-ASSOCIATED PROTEIN; MAL; 192090 CADHERIN 1; CDH1; 218600 BALLER-GEROLD SYNDROME; BGS; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 227650 FANCONI ANEMIA; FA; 235200 HEMOCHROMATOSIS; HFE; 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE; 265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL; 268300 ROBERTS SYNDROME; RBS; 276400 TWINNING, DIZYGOTIC; 300573 ZINC FINGER PROTEIN 674; ZNF674; 309400 MENKES DISEASE; 600588 MOVED TO 188025; 600756 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-PRIME; PPP2R4; 601047 CAVEOLIN 1; CAV1; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST; 602849 MUENKE SYNDROME; 603770 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1B; PPM1B; 603780 RECQ PROTEIN-LIKE 4; RECQL4; 603906 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 1; CLCA1; 604686 A-KINASE ANCHOR PROTEIN 13; AKAP13; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1D; PPM1D; 605119 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1G; PPM1G; 605993 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 2C; PPM2C; 605997 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, GAMMA ISOFORM; PPP2R2C; 606108 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1A; PPM1A; 606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 607026 NEURON NAVIGATOR 2; NAV2; 608979 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1M; PPM1M; 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; 609758 T-CELL LYMPHOMA BREAKPOINT-ASSOCIATED TARGET 1; TCBA1; 609957 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1J; PPM1J

March 14, 2006
New Entries:: 300581 FG SYNDROME 5; FGS5; 609950 RAVER1, MOUSE, HOMOLOG OF; 609953 RAVER2, MOUSE, HOMOLOG OF; 609954 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4; 609955 FIBROMATOSIS, GINGIVAL, 3; GINGF3; 609956 RAS-ASSOCIATED PROTEIN RAB37; RAB37; 609957 PROTEIN PHOSPHATASE 1J; PPM1J
Changed Entries:: 100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 125647 DESMOPLAKIN; DSP; 131195 ENDOGLIN; ENG; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 135300 FIBROMATOSIS, GINGIVAL, 1; GINGF; 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1; 142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C; 142987 HOMEOBOX D1; HOXD1; 154705 MARFAN SYNDROME, TYPE II; MFS2; 165040 RAS-ASSOCIATED PROTEIN RAB8A; RAB8A; 173460 PLATELET FACTOR 4; PF4; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; 235200 HEMOCHROMATOSIS; HFE; 236200 HOMOCYSTINURIA; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 300221 HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL; 300321 FG SYNDROME 2; FGS2; 300362 ARMADILLO REPEAT CONTAINING, X-LINKED 1; ARMCX3; 300363 ARMADILLO REPEAT CONTAINING, X-LINKED 2; ARMCX2; 300364 ARMADILLO REPEAT CONTAINING, X-LINKED 3; ARMCX3; 300406 FG SYNDROME 3; FGS3; 300422 FG SYNDROME 4; FGS4; 300574 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3; 300581 FG SYNDROME 5; FGS5; 305450 FG SYNDROME 1; FGS1; 600023 CADHERIN 11; CDH11; 600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 600918 MOVED TO 220100; 601056 BCL2-RELATED PROTEIN A1; BCL2A1; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1; 601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST; 601973 RETINOIC ACID RECEPTOR RESPONDER 2; RARRES2; 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2; 602351 CHEMOKINE-LIKE RECEPTOR 1; CMKLR1; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2; 604198 RAS-ASSOCIATED PROTEIN RAB11B; RAB11B; 604199 RAS-ASSOCIATED PROTEIN RAB35; RAB35; 604322 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 604350 RAS-ASSOCIATED PROTEIN RAB3D; RAB3D; 605305 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605570 RAS-ASSOCIATED PROTEIN RAB11A; RAB11A; 605662 RAS-ASSOCIATED PROTEIN RAB36; RAB36; 606086 EUKARYOTIC TRANSLATION INITIATION FACTOR 5B; EIF5B; 606157 PANTOTHENATE KINASE 2; PANK2; 606264 LECTIN, C-TYPE, SUPERFAMILY MEMBER 12; CLECSF12; 606281 RAS-ASSOCIATED PROTEIN RAB38; RAB38; 606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607466 RAS-ASSOCIATED PROTEIN RAB2B; RAB2B; 608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9; 608967 AORTIC ANEURYSM, FAMILIAL THORACIC 3; 608979 PROTEIN PHOSPHATASE 1M; PPM1M; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609058 METHYLMALONYL-CoA MUTASE; MUT; Clinical Synopsis for 236670 WALKER-WARBURG SYNDROME; Clinical Synopsis for 253280 MUSCLE-EYE-BRAIN DISEASE; MEB; Clinical Synopsis for 600918 MOVED TO 220100

March 13, 2006
New Entries:: 300579 KIAA1202 GENE; 609941 DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51; 609949 G PROTEIN-COUPLED RECEPTOR 77; GPR77; 609951 ZINC FINGER PROTEIN 384; ZNF384; 609952 DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME; 147670 INSULIN RECEPTOR; INSR; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 159900 MYOCLONIC DYSTONIA; 173510 CD36 ANTIGEN; CD36; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 203650 ALOPECIA-MENTAL RETARDATION SYNDROME; 223610 MOVED TO 228900; 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; 300363 ARM PROTEIN LOST IN EPITHELIAL CANCERS, X CHROMOSOME, 2; ARMCX2; 300417 G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 1; GPRASP1; 300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; 300579 KIAA1202 GENE; 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER; 600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 602544 PARKIN; PARK2; 602897 MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2; 604149 SARCOGLYCAN, EPSILON; SGCE; 604277 SPG4 GENE; SPG4; 604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4; 604475 RETICULON 4; RTN4; 604686 A-KINASE ANCHOR PROTEIN 13; AKAP13; 604889 NEUROBEACHIN; NBEA; 605018 CYLINDROMATOSIS GENE; CYLD1; 605238 HISTAMINE N-METHYLTRANSFERASE; HNMT; 605240 CHEMOKINE, CC MOTIF, LIGAND 28; CCL28; 605361 SPINOCEREBELLAR ATAXIA 14; SCA14; 605958 TRAF-INTERACTING PROTEIN; 606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE; 606517 ARYLHYDROCARBON RECEPTOR REPRESSOR; AHRR; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 607722 KIAA0103 GENE; KIAA0103; 608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3; 609055 CEROID LIPOFUSCINOSIS, NEURONAL 9; CLN9; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609915 CARDIOMYOPATHY, DILATED, 1Q; CMD1Q; 609952 DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55

March 10, 2006
New Entries:: 609947 KIAA0391 GENE; KIAA0391; 609948 TRIAD DOMAIN-CONTAINING PROTEIN 3
Changed Entries:: 103280 H19 GENE; H19; 104230 FUCOSYLTRANSFERASE 4; FUT4; 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1; 108345 N-ACETYLTRANSFERASE 1; NAT1; 114480 BREAST CANCER; 125240 DECAY-ACCELERATING FACTOR FOR COMPLEMENT; DAF; 125250 OPTIC ATROPHY 1 AND DEAFNESS; 142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1; 142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 147683 INTERLEUKIN 13; IL13; 160740 MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 161015 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1; NDUFV1; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 165500 OPTIC ATROPHY 1; OPA1; 176640 PRION PROTEIN; PRNP; 181500 SCHIZOPHRENIA; SCZD; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2; 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 236670 WALKER-WARBURG SYNDROME; 243400 ISONIAZID INACTIVATION; 245300 KURU, SUSCEPTIBILITY TO; 253280 MUSCLE-EYE-BRAIN DISEASE; MEB; 266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC; 300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2; 312600 RETINITIS PIGMENTOSA 2, X-LINKED; RP2; 314310 TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3; 600846 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4; 600888 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; ARHGEF5; 601143 DYNACTIN 1; DCTN1; 602533 ONCOGENE DJ1; 602837 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 1; DNAJA1; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 605248 MUCOLIPIN 1; MCOLN1; 605290 OPA1 GENE; OPA1; 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2; 606352 ALSIN; 606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 606865 FUCOSYLTRANSFERASE 9; FUT9; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608382 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 3; DNAJA3; 609102 F-BOX ONLY PROTEIN 31; FBXO31; 609845 SUCRASE-ISOMALTASE; SI; 609934 EARLY B-CELL FACTOR 2; EBF2; 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA

March 9, 2006
New Entries:: 609946 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 47; Clinical Synopsis for 603663 MENTAL HEALTH WELLNESS 1
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104311 PRESENILIN 1; PSEN1; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 139320 GNAS COMPLEX LOCUS; GNAS; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 160730 MYOSIN, HEAVY CHAIN 1, SKELETAL MUSCLE, ADULT; MYH1; 160740 MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2; 160742 MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 160776 MYOSIN, HEAVY CHAIN 10, NONMUSCLE; MYH10; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 170280 PERFORIN 1; PRF1; 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;; 222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID; 267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; 300377 DYSTROPHIN; DMD; 600375 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; XRCC2; 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1; 601253 CAVEOLIN 3; CAV3; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1; 603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP; 604674 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 2; HEY2; 605014 SYNTAXIN 11; STX11; 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2; 605235 NUCLEOLAR PROTEIN 3; NOL3; 605398 CHEMOKINE, CXC MOTIF, LIGAND 16; CXCL16; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 608568 MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14; 608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D; 609946 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 47; Clinical Synopsis for 267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1

March 8, 2006
New Entries:: 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
Changed Entries:: 135630 INTEGRIN, BETA-1; ITGB1; 192974 INTEGRIN, ALPHA-2; ITGA2; 252600 MUCOLIPIDOSIS IIIA; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 606232 CHROMOSOME 22q13.3 DELETION SYNDROME; 607838 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 608030 AMYOTROPHIC LATERAL SCLEROSIS 6; 608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1

March 7, 2006
New Entries:: 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE; 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE
Changed Entries:: 104614 SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 134797 FIBRILLIN 1; FBN1; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 176258 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 1;; 181500 SCHIZOPHRENIA; SCZD; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 209900 BARDET-BIEDL SYNDROME; BBS; 220100 CYSTINURIA; 300008 CHLORIDE CHANNEL 5; CLCN5; 300159 THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X; 304750 MOVED TO 306955; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 600918 MOVED TO 220100; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 604144 SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9; 604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4; 604998 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I; CAMK1; 607924 METASTASIS-ASSOCIATED LUNG ADENOCARCINOMA TRANSCRIPT 1; MALAT1; 608132 TETRATRICOPEPTIDE REPEAT DOMAIN 8; TTC8; 609192 LOEYS-DIETZ SYNDROME; LDS; 609430 NEURONAL PAS DOMAIN PROTEIN 3; NPAS3; 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE

March 6, 2006
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 160745 MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 187700 THIOREDOXIN; TXN; 191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO; 210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 256700 NEUROBLASTOMA; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1; 601314 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN; HINT; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5; 602997 CUBILIN; CUBN; 604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1; 605926 PROTEIN INTERACTING WITH C KINASE 1; PICK1; 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP; 607640 ATAXIN 7; ATXN7; 607962 MICRO RNA 23A; MIRN23A; 609428 TUKEL SYNDROME; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; Clinical Synopsis for 261600 PHENYLKETONURIA

March 3, 2006
New Entries:: 609942 NOONAN SYNDROME 3; Clinical Synopsis for 609800 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; Clinical Synopsis for 609821 BLEEDING DISORDER DUE TO P2RY12 DEFECT
Changed Entries:: 115150 CARDIOFACIOCUTANEOUS SYNDROME; 146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3; 160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2; 163950 NOONAN SYNDROME 1; NS1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 176970 PROTEIN KINASE C, BETA-1; PRKCB1; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 180960 S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 254780 MYOCLONIC EPILEPSY OF LAFORA; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600556 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2; 601497 BCL2-ASSOCIATED ATHANOGENE 1; BAG1; 601635 NEURAL TUBE DEFECT, FOLATE-RESISTANT; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 603481 PROTEASOME 26S SUBUNIT, NON-ATPase, 13; PSMD13; 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML; 609018 HOLOCARBOXYLASE SYNTHETASE; HLCS; Clinical Synopsis for 107480 TOWNES-BROCKS SYNDROME; TBS; Clinical Synopsis for 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC

March 2, 2006
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 117800 EAR WAX, WET/DRY; 120520 MEMBRANE METALLOENDOPEPTIDASE; MME; 135940 FILAGGRIN; FLG; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 146700 ICHTHYOSIS VULGARIS; 180460 RIBOSOMAL PROTEIN S6; RPS6; 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD; 300377 DYSTROPHIN; DMD; 600421 GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3; 600556 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6; 601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1; 602007 V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG-LIKE; CRKL; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP; 604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1; 604891 NCK-ASSOCIATED PROTEIN 1; NCKAP1; 605341 paIRED IMMUNOGLOBULIN-LIKE RECEPTOR, ALPHA; PILRA; 605342 PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR, BETA; PILRB; 606201 WFS1 GENE; WFS1; 606322 CYTOPLASMIC FMRP INTERACTING PROTEIN 1; CYFIP1; 607299 DELTA- AND NOTCH-LIKE EPIDERMAL GROWTH FACTOR-RELATED RECEPTOR; 609237 IQ MOTIF-CONTAINING PROTEIN B1; IQCB1

March 1, 2006
New Entries:: 609936 SPINDLIN; SPIN
Changed Entries:: 117800 EAR WAX, WET/DRY; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 148040 KERATIN 5; KRT5; 150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN; 179850 DOWLING-DEGOS DISEASE; DDD; 191170 TUMOR PROTEIN p53; TP53; 222300 WOLFRAM SYNDROME; 300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5; 300256 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2; 300438 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II, DEFICIENCY; 300517 SPINDLIN FAMILY, MEMBER 2; SPIN2; 300571 HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE; 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; 311200 OROFACIODIGITAL SYNDROME I; OFD1; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; 601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HAD; 605906 LIM DOMAIN-BINDING 3; LDB3; 606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 607040 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11; 608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3; 609609 MOVED TO 231530; Clinical Synopsis for 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; Clinical Synopsis for 265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL; Clinical Synopsis for 609609 MOVED TO 231530

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