OMIM Update List for January, 2006

PubMed

Nucleotide

Protein

Genome

OMIM Update List for January, 2006

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January 31, 2006
New Entries:: 609866 START DOMAIN-CONTAINING PROTEIN 13; STARD13; 609867 UBIQUITIN-LIKE DOMAIN-CONTAINING CTD PHOSPHATASE 1; UBLCP1; 609868 SPERMATOGENESIS-ASSOCIATED PROTEIN 7; SPATA7; 609869 SPERMATOGENESIS-ASSOCIATED PROTEIN 12; SPATA12; 609870 GTPase-ACTIVATING PROTEIN, RHO, 21; ARHGAP21; 609872 WAP 4-DISULFIDE CORE DOMAIN 12; WFDC12
Changed Entries:: 102630 ACTIN, BETA; ACTB; 109390 MOVED TO 301845; 143100 HUNTINGTON DISEASE; HD; 146530 MOVED TO 301845; 148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL; 153450 LYSOZYME; LYZ; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 181500 SCHIZOPHRENIA; SCZD; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 301845 BAZEX SYNDROME; BZX; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600127 PHOSPHODIESTERASE 4B, cAMP-SPECIFIC; PDE4B; 600143 CEROID LIPOFUSCINOSIS, NEURONAL 8; CLN8; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601603 LYMPHOCYTE CYTOSOLIC PROTEIN 2; LCP2; 602358 HYPOCRETIN; HCRT; 602716 NEPHRIN; NPHS1; 602820 HISTONE 3, H3; HIST3H3; 603587 FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID; 604318 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1; 604766 PODOCIN; NPHS2; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 606350 APRATAXIN; APTX; 608288 IGF2 mRNA-BINDING PROTEIN 1

January 30, 2006
New Entries:: 609858 ETHANOLAMINE KINASE 1; ETNK1; 609859 ETHANOLAMINE KINASE 2; ETNK2; 609860 DAD1-RELATED GENE; 609861 I-KAPPA-B KINASE-INTERACTING PROTEIN; 609862 TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6; 609863 TECTONIC 1; 609864 TRANSMEMBRANE PROTEIN 55A; TMEM55A; 609865 TRANSMEMBRANE PROTEIN 55B; TMEM55B
Changed Entries:: 114480 BREAST CANCER; 114610 CANNABINOID RECEPTOR 1; CNR1; 133200 ERYTHROKERATODERMIA VARIABILIS; EKV; 151410 BREAKPOINT CLUSTER REGION; BCR; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; 189907 TRANSCRIPTION FACTOR 2; TCF2; 200100 ABETALIPOPROTEINEMIA; ABL; 273300 TESTICULAR TUMORS; 600041 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 2; P2RY2; 600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 601554 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE 1; TCTEL1; 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3; 604164 ONE CUT DOMAIN, FAMILY MEMBER 1; ONECUT1; 604975 SRY-BOX 5; SOX5; 605425 GAP JUNCTION PROTEIN, BETA-4; GJB4; 606829 FRDA GENE; FRDA; 609856 SPERMATOGENESIS-ASSOCIATED PROTEIN 16; SPATA16; 609861 I-KAPPA-B KINASE-INTERACTING PROTEIN

January 27, 2006
New Entries:: 609852 MIX1 HOMEOBOX-LIKE PROTEIN 1; MIXL1; 609853 PHOSPHOPANTOTHENOYLCYSTEINE SYNTHETASE; PPCS; 609854 PHOSPHOPANTOTHENOYLCYSTEINE DECARBOXYLASE; PPCDC; 609855 COENZYME A SYNTHASE; COASY; 609856 SPERMATOGENESIS-ASSOCIATED 16; SPATA16; 609857 DYSTROPHIA MYOTONICA WD REPEAT-CONTAINING PROTEIN; DMWD
Changed Entries:: 133430 ESTROGEN RECEPTOR 1; ESR1; 139900 HAND SKILL, RELATIVE; HSR; 167415 PAIRED BOX GENE 8; PAX8; 181500 SCHIZOPHRENIA; SCZD; 214800 CHARGE SYNDROME; 218700 THYROID DYSGENESIS; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH; 602581 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 3; GOLGA3; 602999 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3C; PPP1R3C; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 607566 EPM2A GENE; EPM2A; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 609856 SPERMATOGENESIS-ASSOCIATED 16; SPATA16

January 26, 2006
New Entries:: 609846 REGENERATING ISLET-DERIVED FAMILY, MEMBER 4; REG4; 609851 INOSITOL POLYPHOSPHATE MULTIKINASE; IPMK
Changed Entries:: 186845 CD81 ANTIGEN; CD81; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 276900 USHER SYNDROME, TYPE I; USH1; 276902 USHER SYNDROME, TYPE III; USH3; 276904 USHER SYNDROME, TYPE IC; USH1C; 601067 USHER SYNDROME, TYPE ID; USH1D; 602083 USHER SYNDROME, TYPE IF; USH1F; 603353 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1; 605881 SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1; 606943 USHER SYNDROME, TYPE IG; USH1G; 607215 NEPHROCYSTIN 4; NPHP4; 609846 REGENERATING ISLET-DERIVED FAMILY, MEMBER 4; REG4; 609850 TBC1 DOMAIN FAMILY, MEMBER 1; TBC1D1

January 25, 2006
New Entries:: 609845 SUCRASE-ISOMALTASE; SI; 609850 TBC1 DOMAIN FAMILY, MEMBER 1; TBC1D1
Changed Entries:: 107400 PROTEASE INHIBITOR 1; PI; 177010 PROTEASE INHIBITOR 7; PI7; 222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603035 INTERLEUKIN 16; IL16; 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1; 604672 CD209 ANTIGEN; CD209; 606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 609810 PATERNALLY EXPRESSED GENE 10; PEG10

January 24, 2006
New Entries:: 609847 NOTUM, DROSOPHILA, HOMOLOG OF; NOTUM; 609848 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 11; KCTD11; 609849 CORONIN 1B; CORO1B
Changed Entries:: 103280 H19 GENE; H19; 114760 CARBONIC ANHYDRASE IV; CA4; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 187380 TENASCIN C; TNC; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 300214 PLEXIN B3; PLXNB3; 300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; WNK3; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2; 601804 TRANSCRIPTION FACTOR Sp3; SP3; 601998 ESTROGEN-RELATED RECEPTOR, ALPHA; ESRRA; 602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18; 602180 SIGNAL-INDUCED PROLIFERATION-ASSOCIATED GENE 1; SIPA1; 602910 CLAUDIN 3; CLDN3; 603924 HYALURONAN-BINDING PROTEIN 2; HABP2; 604293 PLEXIN B2; PLXNB2; 604832 CARBONIC ANHYDRASE XIV; CA14; 605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11; 605242 USH1C GENE; USH1C; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 607505 PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK; 608947 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13; KCTD13; 609297 SEMAPHORIN 5A; SEMA5A

January 23, 2006
New Entries:: 300570 TRANSCRIPTION FACTOR YY2; YY2; 609842 YJEF DOMAIN-CONTAINING PROTEIN; YJDC; 609843 DECAPPING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, B; DCP1B; 609844 DECAPPING ENZYME 2, S. CEREVISIAE, HOMOLOG OF; DCP2
Changed Entries:: 135150 BIRT-HOGG-DUBE SYNDROME; BHD; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142200 HEMOGLOBIN, GAMMA A; HBG1; 152424 LOCUS CONTROL REGION, BETA; 167771 REGENERATING ISLET-DERIVED 1-BETA; REG1B; 167805 REGENERATING ISLET-DERIVED 3-ALPHA; REG3A; 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN; 192090 CADHERIN 1; CDH1; 248300 MAL DE MELEDA; 300275 NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL; 300451 ED1 GENE; ED1; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600326 DEAD/H BOX 6; DDX6; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 606030 AUTOANTIGEN RCD8; 606119 SECRETED LY6/UPAR-RELATED PROTEIN 1; 607010 DECAPPING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, A; DCP1A; 607273 FOLLICULIN; FLCN

January 20, 2006
New Entries:: 609830 ABDOMINAL BODY FAT DISTRIBUTION, MODIFIER OF; 609836 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 2; PCBD2; 609838 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609839 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609840 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609841 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 102581 ACTIVIN A RECEPTOR, TYPE II; ACVR2; 126090 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 1; PCBD1; 133430 ESTROGEN RECEPTOR 1; ESR1; 134370 COMPLEMENT FACTOR H; CFH; 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 176830 PROOPIOMELANOCORTIN; POMC; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 180645 RNA, U17A SMALL NUCLEOLAR; RNU17A; 180646 RNA, U108 SMALL NUCLEOLAR; RNU108; 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN; 185800 SYMPHALANGISM, PROXIMAL; SYM1; 191045 TROPONIN T2, CARDIAC; TNNT2; 193700 FREEMAN-SHELDON SYNDROME; FSS; 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R; 600455 RNA, U15A SMALL NUCLEOLAR; RNU15A; 600812 SPLICING FACTOR, ARGININE/SERINE-RICH, 1; SFRS1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601665 OBESITY; 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8; 601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS; 602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B; 603223 RNA, U22 SMALL NUCLEOLAR; RNU22; 603224 RNA, U25 SMALL NUCLEOLAR; RNU25; 603225 RNA, U26 SMALL NUCLEOLAR; RNU26; 603226 RNA, U27 SMALL NUCLEOLAR; RNU27; 603227 RNA, U28 SMALL NUCLEOLAR; RNU28; 603228 RNA, U29 SMALL NUCLEOLAR; RNU29; 603229 RNA, U30 SMALL NUCLEOLAR; RNU30; 603230 RNA, U31 SMALL NUCLEOLAR; RNU31; 603238 RNA, U17D SMALL NUCLEOLAR; RNU17D; 603239 RNA, U17B SMALL NUCLEOLAR; RNU17B; 603287 PYRIDOXINE-5-PRIME-PHOSPHATE OXIDASE; PNPO; 603445 KH-TYPE SPLICING REGULATORY PROTEIN; KHSRP; 603457 ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA; 603568 RNA, U73 SMALL NUCLEOLAR; RNU73; 603619 FIZZY-RELATED PROTEIN, DROSOPHILA, HOMOLOG OF, 1; FZR1; 603635 RNA, U21 SMALL NUCLEOLAR; RNU21; 604012 RNA, U20 SMALL NUCLEOLAR; RNU20; 604556 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B; 606946 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2; 607271 CASPASE 8 DEFICIENCY; 609836 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 2; PCBD2

January 19, 2006
New Entries:: 609835 MYCBP-ASSOCIATED PROTEIN; MYCBPAP; 609837 RNA, HBII-52 SMALL NUCLEOLAR
Changed Entries:: 109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 123875 CYSTEINE-RICH INTESTINAL PROTEIN 1; CRIP1; 126090 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE; PCBD; 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 148900 KLIPPEL-FEIL SYNDROME; 181035 TETRASPANIN 31; TSPAN31; 186760 ANTIGEN CD28; CD28; 213700 CEREBROTENDINOUS XANTHOMATOSIS; 219700 CYSTIC FIBROSIS; CF; 258200 OLIVER SYNDROME; 264070 HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA; 267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM; 300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5; 300191 TETRASPANIN 6; TSPAN6; 300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE; 300556 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2; 600029 DISTAL-LESS HOMEOBOX 1; DLX1; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 600623 CD82 ANTIGEN; CD82; 600747 T-BOX 2; TBX2; 600769 TETRASPANIN 8; TSPAN8; 601369 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9; 602644 TETRASPANIN 4; TSPAN4; 603196 COCHLIN; COCH; 603767 KALLIKREIN 4; KLK4; 603853 TETRASPANIN 32; TSPAN32; 604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS; 605436 PRADER-WILLI CRITICAL REGION GENE 1; PWCR1; 606530 CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1; 607962 MICRO RNA 23A; MIRN23A

January 18, 2006
New Entries:: 300568 MICRO RNA 221; MIRN221; 300569 MICRO RNA 222; MIRN222; 609827 PELLINO, DROSOPHILA, HOMOLOG OF, 3; PELI3; 609828 FIBRONECTIN TYPE 3 AND SPRY DOMAINS-CONTAINING PROTEIN 1; FSD1; 609829 FSD1 N-TERMINUS-LIKE PROTEIN; FSD1NL; 609831 MMACHC GENE; 609832 MULTIDRUG AND TOXIN EXTRUSION PROTEIN 1; 609833 MULTIDRUG AND TOXIN EXTRUSION PROTEIN 2; 609834 SET AND MARINER TRANSPOSASE DOMAINS-CONTAINING PROTEIN; SETMAR
Changed Entries:: 109400 BASAL CELL NEVUS SYNDROME; BCNS; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 148069 KERATIN 17; KRT17; 161800 NEMALINE MYOPATHY 3; NEM3; 163200 NEVUS SEBACEUS OF JADASSOHN; 164000 NOSE, ANOMALOUS SHAPE OF; 164160 LEPTIN; LEP; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 209850 AUTISM; 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT; 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 600643 CAROLI DISEASE, ISOLATED; 600991 HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE; 601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; 601620 T-BOX 5; TBX5; 601683 COQ7, S. CEREVISIAE, HOMOLOG OF; COQ7; 602118 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1; CHD1; 604125 SULFOTRANSFERASE FAMILY 2B, MEMBER 1; SULT2B1; 605196 COQ3, S. CEREVISIAE, HOMOLOG OF; COQ3; 605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I; 607392 WW DOMAIN-CONTAINING TRANSCRIPTION REGULATOR 1; WWTR1; 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A; 609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2; 609828 FIBRONECTIN TYPE 3 AND SPRY DOMAINS-CONTAINING PROTEIN 1; FSD1; 609829 FSD1 N-TERMINUS-LIKE PROTEIN; FSD1NL

January 17, 2006
New Entries:: 609824 HORMA DOMAIN-CONTAINING 1; HORMAD1; 609825 COENZYME Q2; COQ2; 609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER
Changed Entries:: 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT; 115310 PARAGANGLIOMAS 4; PGL4; 142445 NEUREGULIN 1; NRG1; 142560 HLA-B-ASSOCIATED TRANSCRIPT 1; BAT1; 142690 ACNE INVERSA, FAMILIAL; 148042 KERATIN 6B; KRT6B; 148067 KERATIN 16; KRT16; 148069 KERATIN 17; KRT17; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1; 167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2; 182309 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,; 270300 PEELING SKIN SYNDROME; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600488 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5; 602109 MATRILIN 3; MATN3; 602568 METHIONINE SYNTHASE REDUCTASE; MTRR; 603805 TRANSGLUTAMINASE 5; TGM5; 604217 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 605097 SOLUTE CARRIER FAMILY 45, MEMBER 3; SLC45A3; 605248 MUCOLIPIN 1; MCOLN1; 605261 NADPH OXIDASE 4; NOX4; 606390 MOVED TO 142560; 608319 MOVED TO 605097; 609796 PEELING SKIN SYNDROME, ACRAL TYPE

January 13, 2006
New Entries:: 609821 BLEEDING DISORDER DUE TO P2RY12 DEFECT
Changed Entries:: 100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 1; ASCL1; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 131210 SELECTIN E; SELE; 134797 FIBRILLIN 1; FBN1; 162323 TACHYKININ RECEPTOR 1; TACR1; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 167409 PAIRED BOX GENE 2; PAX2; 186760 ANTIGEN CD28; CD28; 192310 VASCULITIS, LYMPHOCYTIC, NODULAR; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 212750 CELIAC DISEASE; CD; 242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; 600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1; 601021 NUCLEOPORIN, 98-KD; NUP98; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601206 POU DOMAIN, CLASS 2, ASSOCIATING FACTOR 1; POU2AF1; 601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17; 601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4; 603343 RNA EXPORT 1, S. POMBE, HOMOLOG OF; RAE1; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1; 604477 CHROMOBOX HOMOLOG 3; CBX3; 604478 CHROMOBOX HOMOLOG 5; CBX5; 604511 CHROMOBOX HOMOLOG 1; CBX1; 604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS; 604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5;; 604970 AURORA KINASE B; AURKB; 605558 FIBROBLAST GROWTH FACTOR 20; FGF20; 605719 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 5; WBSCR5; 606221 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3; 609817 VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL; 609821 BLEEDING DISORDER DUE TO P2RY12 DEFECT; Clinical Synopsis for 258500 OPTIC ATROPHY 5; OPA5; Clinical Synopsis for 604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3

January 12, 2006
Changed Entries:: 107730 APOLIPOPROTEIN B; APOB; 113710 TREFOIL FACTOR 1; TFF1; 131210 SELECTIN E; SELE; 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD; 142230 HEMATOPOIETIC PROGENITOR CELL ANTIGEN CD34; CD34; 146660 INTERLEUKIN 7; IL7; 146661 INTERLEUKIN 7 RECEPTOR; IL7R; 147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 163950 NOONAN SYNDROME 1; NS1; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 171300 PHEOCHROMOCYTOMA; 173610 SELECTIN P; SELP; 176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2; 180300 RHEUMATOID ARTHRITIS; RA; 184850 STIFF-PERSON SYNDROME; SPS; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 188060 THROMBOSPONDIN I; THBS1; 191160 TUMOR NECROSIS FACTOR; TNF; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 258500 OPTIC ATROPHY 5; OPA5; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 300072 UBIQUITIN-SPECIFIC PROTEASE 9, X CHROMOSOME; USP9X; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300386 CD40 LIGAND; CD40LG; 300419 MENTAL RETARDATION, X-LINKED 54; MRX54; 300430 MOVED TO 300419; 300503 MOVED TO 300419; 300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A; 600738 SELECTIN P LIGAND; SELPLG; 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF; 600843 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 3; P2RX3; 600844 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 2; P2RX2; 600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1; 600894 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3; 601117 THIMET OLIGOPEPTIDASE 1; THOP1; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 603149 INTERLEUKIN 17; IL17; 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5; 603375 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 603657 VESICLE-ASSOCIATED MEMBRANE PROTEIN 3; VAMP3; 604953 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC; 605546 GLYCOPROTEIN VI, PLATELET; GP6; 606702 PKHD1 GENE; PKHD1; 607872 MONOSOMY 1p36 SYNDROME; 608537 VHL GENE; VHL

January 11, 2006
Changed Entries:: 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 118450 ALAGILLE SYNDROME; AGS; 125220 DEFENSIN, ALPHA, 1; DEFA1; 132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1; 138030 GLUCAGON; GCG; 155550 SILVER, MOUSE, HOMOLOG OF; SILV; 170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 312865 SHORT STATURE HOMEOBOX; SHOX; 600643 CAROLI DISEASE, ISOLATED; 601007 LEPTIN RECEPTOR; LEPR; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR; 602218 SAL-LIKE 1; SALL1; 602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1; 602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART; 605353 GHRELIN; GHRL; 605384 INTERLEUKIN 21; IL21; 606702 PKHD1 GENE; PKHD1; 608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6; 609762 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3

January 10, 2006
New Entries:: 609811 CYTOCHROME C OXIDASE SUBUNIT VIIb2; COX7B2; 609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Changed Entries:: 107266 CD22 ANTIGEN; CD22; 107480 TOWNES-BROCKS SYNDROME; TBS; 109535 CD40 ANTIGEN; CD40; 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1; 146710 INTERLEUKIN 2 RECEPTOR, BETA; IL2RB; 146931 INTERLEUKIN 9; IL9; 147680 INTERLEUKIN 2; IL2; 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA; 171200 THIOUREA TASTING; 184745 KIT LIGAND; KITLG; 191160 TUMOR NECROSIS FACTOR; TNF; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG; 601334 KINESIN LIGHT CHAIN 3; KLC3; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602218 SAL-LIKE 1; SALL1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1; 604672 CD209 ANTIGEN; CD209; 604791 TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10; 604796 TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1; 604867 TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16; 604868 TASTE RECEPTOR, TYPE 2, MEMBER 3; TAS2R3; 604869 TASTE RECEPTOR, TYPE 2, MEMBER 4; TAS2R4; 605062 TASTE RECEPTOR, TYPE 2, MEMBER 5; TAS2R5; 605513 MELAN A; MLANA; 606463 GLUCOSIDASE, BETA, ACID; GBA; 607107 NASOPHARYNGEAL CARCINOMA 1; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; 607751 TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608223 ASPIRIN RESISTANCE; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609627 TASTE RECEPTOR, TYPE 2, MEMBER 50; TAS2R50; 609742 INTERLEUKIN 4-INDUCED GENE 1; IL4I1; 609761 TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP; 609811 CYTOCHROME C OXIDASE SUBUNIT VIIb2; COX7B2

January 9, 2006
New Entries:: 609822 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 1
Changed Entries:: 107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI; 114840 CARBOXYL-ESTER LIPASE; CEL; 151570 LEUKOTRIENE A4 HYDROLASE; LTA4H; 164180 OCULOCEREBROCUTANEOUS SYNDROME; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 173900 POLYCYSTIC KIDNEYS; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 236670 WALKER-WARBURG SYNDROME; 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY; 300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300503 MENTAL RETARDATION, X-LINKED 43; MRX43; 303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600029 DISTAL-LESS HOMEOBOX 1; DLX1; 600238 TRANSGLUTAMINASE 3; TGM3; 600386 INHIBITOR OF DNA BINDING 2; ID2; 601230 DERMATITIS HERPETIFORMIS, FAMILIAL; 602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1; 602574 TECTORIN, ALPHA; TECTA; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 605695 CAPPUCCINO, MOUSE, HOMOLOG OF; CNO; 605872 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M; 606020 OPA-INTERACTING PROTEIN 5; OIP5; 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY; 607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; 607289 MUTED, MOUSE, HOMOLOG OF; MUTED; 607334 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHROMOSOME REGION GENE; 607343 SAL-LIKE 4; SALL4; 607439 PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2; 608112 TRAFFICKING PROTEIN, KINESIN-BINDING 1; TRAK1;;; 609810 PATERNALLY EXPRESSED GENE 10; PEG10; 609812 DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION; Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; Clinical Synopsis for 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;; Clinical Synopsis for 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL; Clinical Synopsis for 600223 SPINOCEREBELLAR ATAXIA 4; SCA4

January 6, 2006
New Entries:: 609819 PRAC PROTEIN
Changed Entries:: 103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2; 103780 ALCOHOL DEPENDENCE; 130080 EHLERS-DANLOS SYNDROME, TYPE VIII; 131340 PRODYNORPHIN; PDYN; 133171 ERYTHROPOIETIN RECEPTOR; EPOR; 139250 GROWTH HORMONE 1; GH1; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 146770 IMMUNOGLOBULIN LAMBDA-LIKE POLYPEPTIDE 1; IGLL1; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD; 182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1; 262600 PITUITARY DWARFISM III; 600057 EXSTROPHY OF BLADDER; 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601495 AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601543 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 8; DFNA8; 601769 VITAMIN D RECEPTOR; VDR; 602056 DEFENSIN, BETA, 1; DEFB1; 602215 DEFENSIN, BETA, 4; DEFB4; 602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN,; 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1; 603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE; CCL4L; 607278 OSTEOFIBROUS DYSPLASIA; 608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609819 PRAC PROTEIN

January 5, 2006
New Entries:: 609789 AQUAPORIN 12A; AQP12A; 609806 HYDROXYMETHYLBILANE SYNTHASE; HMBS; 609815 ZYGODACTYLY 1; 609816 NEUROBEACHIN-LIKE 1; NBEAL1; 609817 VASCULITIS, CUTANEOUS SMALL VESSEL LYMPHOCYTIC; 609818 UBIQUITIN-SPECIFIC PROTEIN 10; USP10
Changed Entries:: 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1; 133435 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1; 134370 COMPLEMENT FACTOR H; CFH; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 154870 MATRIX GAMMA-CARBOXYGLUTAMIC ACID; MGP; 159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3; 164035 NUCLEOLIN; NCL; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 176000 PORPHYRIA, ACUTE INTERMITTENT; 176100 PORPHYRIA CUTANEA TARDA; 185900 SYNDACTYLY, TYPE I; 186740 CD3 ANTIGEN, GAMMA SUBUNIT; CD3G; 186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D; 200100 ABETALIPOPROTEINEMIA; ABL; 232400 GLYCOGEN STORAGE DISEASE III; 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL; 277900 WILSON DISEASE; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300419 MENTAL RETARDATION, X-LINKED 54; MRX54; 301050 ALPORT SYNDROME, X-LINKED; ATS; 303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5; 600197 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN; 600326 DEAD/H BOX 6; DDX6; 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST; 601490 NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2; 601565 INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1; ICSBP1; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 602886 G PROTEIN-COUPLED RECEPTOR 39; GPR39; 603196 COCHLIN; COCH; 604672 CD209 ANTIGEN; CD209; 605328 KRUPPEL-LIKE FACTOR 13; KLF13; 605353 GHRELIN; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607740 UBIQUITIN-SPECIFIC PROTEASE 32; USP32; 608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1; 609017 ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP; 609044 G PROTEIN-COUPLED RECEPTOR 120; GPR120; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609760 PR DOMAIN-CONTAINING PROTEIN 9; PRDM9; 609818 UBIQUITIN-SPECIFIC PROTEIN 10; USP10; Clinical Synopsis for 115310 PARAGANGLIOMAS 4; PGL4

January 4, 2006
New Entries:: 609814 COMPLEMENT FACTOR H DEFICIENCY
Changed Entries:: 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 110500 BLOOD GROUP--DIEGO SYSTEM; DI; 111750 BLOOD GROUP--SCIANNA SYSTEM; SC; 131210 SELECTIN E; SELE; 134370 COMPLEMENT FACTOR H; CFH; 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1; 164345 OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG; 173610 SELECTIN P; SELP; 176300 TRANSTHYRETIN; TTR; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7; 605755 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 2; DCDC2; 609326 MICRO RNA 1; 609758 T-CELL LYMPHOMA BREAKPOINT-ASSOCIATED TARGET 1; TCBA1; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609813 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3; 609814 COMPLEMENT FACTOR H DEFICIENCY

January 3, 2006
New Entries:: 609800 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4
Changed Entries:: 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE; 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1; 153440 LYMPHOTOXIN-ALPHA; LTA; 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 180901 RYANODINE RECEPTOR 1; RYR1; 181000 SARCOIDOSIS; 208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI; 230350 GALACTOSE EPIMERASE DEFICIENCY; 272300 SULFOCYSTEINURIA; 600185 BREAST CANCER 2 GENE; BRCA2; 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+; 604472 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13; 605183 CALMODULIN-LIKE 5; CALML5; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 606887 SULFITE OXIDASE; SUOX; 608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5; 609676 VIRUS-INDUCED SIGNALING ADAPTOR; 609758 T-CELL LYMPHOMA BREAKPOINT-ASSOCIATED TARGET 1; TCBA1; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609812 DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION; Clinical Synopsis for 607323 DUANE-RADIAL RAY SYNDROME; DRRS

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