OMIM Update List for November, 2008

PubMed

Nucleotide

Protein

Genome

OMIM Update List for November, 2008

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November 26, 2008
Changed Entries:: 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1; 123700 CUTIS LAXA, AUTOSOMAL DOMINANT; 130160 ELASTIN; ELN; 145500 HYPERTENSION, ESSENTIAL; 229000 KALLIKREIN B, PLASMA, 1; KLKB1; 260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 604664 INTERFERON-GAMMA-INDUCIBLE PROTEIN 30; IFI30; 608803 GAP JUNCTION PROTEIN, GAMMA-2; GJC2; 608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; 610531 FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A; 610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; 611005 MEX3, C. ELEGANS, HOMOLOG OF, C; MEX3C; 611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8; 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; 612406 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17

November 25, 2008
New Entries:: 612406 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17; 612442 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG OF, A; SEC22A
Changed Entries:: 107680 APOLIPOPROTEIN A-I; APOA1; 128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 165720 OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1; 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II; 224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2; 231070 GERODERMA OSTEODYSPLASTICUM; GO; 256000 LEIGH SYNDROME; LS; 277900 WILSON DISEASE; 278250 WRINKLY SKIN SYNDROME; WSS; 300077 MOVED TO 300419; 300104 GDP DISSOCIATION INHIBITOR 1; GDI1; 300115 MENTAL RETARDATION, X-LINKED 50; MRX50; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300419 MENTAL RETARDATION, X-LINKED 54; MRX54; 305600 FOCAL DERMAL HYPOPLASIA; FDH; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603186 DEATH-ASSOCIATED PROTEIN 6; DAXX; 604028 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG OF, C; SEC22C; 604029 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG-LIKE 1; SEC22L1; 605378 AAAS GENE; AAAS; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 608965 CALCIUM-BINDING PROTEIN 4; CABP4; 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG; 610108 ANOCTAMIN 1, CALCIUM-ACTIVATED CHLORIDE; ANO1; 610109 ANOCTAMIN 2; ANO2; 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1; 612126 DYSTONIA 18; DYT18; 612392 CHROMOSOME 8 OPEN READING FRAME 38; C8ORF38; 612406 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17; 612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3; Clinical Synopsis for 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; Clinical Synopsis for 608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1; Clinical Synopsis for 610532 HYPOMYELINATION AND CONGENITAL CATARACT; Clinical Synopsis for 612233 LEUKODYSTROPHY, HYPOMYELINATING, AUTOSOMAL RECESSIVE

November 24, 2008
New Entries:: 612410 PSORIASIS SUSCEPTIBILITY 10; 612414 LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE; LRTOMT; 612439 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 3; ARFGAP3; 612441 ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE,
Changed Entries:: 104155 ZINC FINGER HOMEOBOX 3; ZFHX3; 131390 NIDOGEN; NID; 147267 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 3; ITPR3; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 171800 ALKALINE PHOSPHATASE, PLACENTAL; ALPP; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 176801 PROSAPOSIN; PSAP; 176807 PROSTATE CANCER; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300008 CHLORIDE CHANNEL 5; CLCN5; 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK; 300748 G PROTEIN-COUPLED RECEPTOR 82; GPR82; 300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 600584 NK2 HOMEOBOX 5; NKX2-5; 600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1; 600985 TENASCIN XB; TNXB; 601774 ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE;; 601990 TUMOR PROTEIN p73; TP73; 603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3; 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3; 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2; 606908 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; ARFGAP2; 606940 ZINC FINGER HOMEOBOX 4; ZFHX4; 607108 PAIRED BOX GENE 6; PAX6; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 607699 RING FINGER PROTEIN 20; RNF20; 608577 CHURCHILL DOMAIN-CONTAINING 1; CHURC1; 608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; 609850 TBC1 DOMAIN FAMILY, MEMBER 1; TBC1D1; 610619 COAGULATION FACTOR XII; F12; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63; 612261 INFLAMMATORY BOWEL DISEASE 17; IBD17; 612381 INFLAMMATORY BOWEL DISEASE 23; IBD23; 612414 LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE; LRTOMT; Clinical Synopsis for 176801 PROSAPOSIN; PSAP

November 21, 2008
New Entries:: 612417 NARCOLEPSY 4; NRCLP4; 612430 RNA-BINDING MOTIF PROTEIN 22; RBM22; 612431 DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27; 612432 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 3; WIPF3; 612433 DEAFNESS, AUTOSOMAL RECESSIVE 45; DFNB45; 612434 CYSTEINE-RICH SECRETORY PROTEIN, LCCL DOMAIN-CONTAINING, 2; CRISPLD2; 612435 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 3A1; SLCO3A1; 612436 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4A1; SLCO4A1
Changed Entries:: 103280 H19 GENE; H19; 103600 ALBUMIN; ALB; 109800 BLADDER CANCER; 119800 CLUBFOOT, CONGENITAL; CCF; 130020 EHLERS-DANLOS SYNDROME, TYPE III; 136850 FUMARATE HYDRATASE; FH; 147891 SMALL PATELLA SYNDROME; SPS; 147900 JOINT LAXITY, FAMILIAL; 161400 NARCOLEPSY 1; NRCLP1; 168860 PATELLA APLASIA-HYPOPLASIA; PTLAH; 169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF; 176640 PRION PROTEIN; PRNP; 194071 WILMS TUMOR 2; WT2; 200700 CHONDRODYSPLASIA, GREBE TYPE; 269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 312750 RETT SYNDROME; RTT; 601460 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1; 601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP; 602772 RETINITIS PIGMENTOSA 25; RP25; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 604273 ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE; 604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1; 604988 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2B1; SLCO2B1; 605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL; 605462 BASAL CELL CARCINOMA, MULTIPLE; 606667 G PROTEIN-COUPLED RECEPTOR 49; GPR49; 606800 GLUCOSIDASE, ALPHA, ACID; GAA; 608058 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 2; G6PC2; 608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5; 609268 SPLICING FACTOR, ARGININE/SERINE-RICH, 12; SFRS12; 609879 SPERMATOGENESIS-ASSOCIATED PROTEIN 4; SPATA4; 609952 DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55; 610259 NARCOLEPSY CANDIDATE REGION GENE 1A; 610263 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 13; DNAJB13; 610386 BTB/POZ DOMAIN-CONTAINING PROTEIN 7; BTBD7; 611032 SPERMATOGENESIS-ASSOCIATED PROTEIN 17; SPATA17; 611400 HOX TRANSCRIPT ANTISENSE RNA; HOTAIR; 611596 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4; DHRS4; 611796 SECRETOGRANIN III; SCG3; 612108 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1; 612248 ZINC FINGER PROTEIN 627; ZNF627; 612418 TRANSMEMBRANE PROTEIN 70; TMEM70; 612424 EYES SHUT, DROSOPHILA, HOMOLOG OF; EYS; Clinical Synopsis for 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

November 20, 2008
New Entries:: 612416 FACTOR XI DEFICIENCY; 612421 ALOPECIA, ANDROGENETIC, 3; AGA3; 612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3; 612423 PREKALLIKREIN DEFICIENCY; 612424 EYES SHUT, DROSOPHILA, HOMOLOG OF; EYS; 612425 SHUGOSHIN-LIKE 2; SGOL2; 612426 CHROMOSOME 16 OPEN READING FRAME 75; C16ORF75; 612427 RNA-BINDING MOTIF PROTEIN 25; RBM25; 612428 RNA-BINDING MOTIF PROTEIN 38; RBM38; 612429 ZINC FINGER PROTEIN 300; ZNF300
Changed Entries:: 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 109200 ALOPECIA, ANDROGENETIC, 1; AGA1; 114800 CARBONIC ANHYDRASE I; CA1; 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 160900 DYSTROPHIA MYOTONICA 1; 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA; 188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; 191045 TROPONIN T2, CARDIAC; TNNT2; 227400 FACTOR V DEFICIENCY; 227500 FACTOR VII DEFICIENCY; 229000 KALLIKREIN B, PLASMA, 1; KLKB1; 236200 HOMOCYSTINURIA; 264900 COAGULATION FACTOR XI; F11; 272800 TAY-SACHS DISEASE; TSD; 300608 DACHSHUND, DROSOPHILA, HOMOLOG OF, 2; DACH2; 300710 ALOPECIA, ANDROGENETIC, 2; AGA2; 300746 COAGULATION FACTOR IX; F9; 600564 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4; ITIH4; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 601670 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 1; DPF1; 601671 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2; 601672 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 3; DPF3; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602772 RETINITIS PIGMENTOSA 25; RP25; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5; 609168 SHUGOSHIN-LIKE 1; SGOL1; 610404 RECQ-MEDIATED GENOME INSTABILITY 1, S. CEREVISIAE, HOMOLOG OF; RMI1; 612278 INFLAMMATORY BOWEL DISEASE 19; IBD19; 612416 FACTOR XI DEFICIENCY; 612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3; 612424 EYES SHUT, DROSOPHILA, HOMOLOG OF; EYS; 612425 SHUGOSHIN-LIKE 2; SGOL2

November 19, 2008
New Entries:: 612418 TRANSMEMBRANE PROTEIN 70; TMEM70; 612419 CARTILAGE INTERMEDIATE LAYER PROTEIN 2; CILP2; 612420 ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE PROTEIN 2; AFAP1L2
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 104300 ALZHEIMER DISEASE; AD; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 114240 CALPAIN 3; CAPN3; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 147791 JACOBSEN SYNDROME; JBS; 150330 LAMIN A/C; LMNA; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 164210 HEMIFACIAL MICROSOMIA; HFM; 165230 GLI-KRUPPEL FAMILY MEMBER 2; GLI2; 168450 PARATHYROID HORMONE; PTH; 170280 PERFORIN 1; PRF1; 180990 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 4; PRB4; 191044 TROPONIN I, CARDIAC; TNNI3; 210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 300490 SH2 DOMAIN PROTEIN 1A; SH2D1A; 300746 COAGULATION FACTOR IX; F9; 304050 AICARDI SYNDROME; AIC; 306900 HEMOPHILIA B; HEMB; 309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7; 603149 INTERLEUKIN 17A; IL17A; 603489 CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP; 604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1; 606829 FRATAXIN; FXN; 607065 GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE; QPCT; 607536 CREB-REGULATED TRANSCRIPTION COACTIVATOR 1; CRTC1; 607617 NUCLEOPORIN, 107-KD; NUP107; 607657 CYSTATHIONINE GAMMA-LYASE; CTH; 607703 NUCLEOPORIN, 210-KD; NUP210; 608140 NUCLEOPORIN, 35-KD; NUP35; 608363 MICRODUPLICATION 22q11.2; 608755 tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF; TSEN54; 608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1; 608918 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 2; ATPAF2; 609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G; 610108 TRANSMEMBRANE PROTEIN 16A; TMEM16A; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A; 611860 MOVED TO 210720; 612244 INFLAMMATORY BOWEL DISEASE 13; IBD13; 612349 PHENYLALANINE HYDROXYLASE; PAH; 612396 ALLANTOICASE; ALLC; 612418 TRANSMEMBRANE PROTEIN 70; TMEM70

November 18, 2008
New Entries:: 612413 RNA-BINDING MOTIF PROTEIN 7; RBM7; 612415 RAS-ASSOCIATED PROTEIN 24; RAB24
Changed Entries:: 107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A; 109535 CD40 ANTIGEN; CD40; 113500 BRACHYOLMIA TYPE 3; 125220 DEFENSIN, ALPHA, 1; DEFA1; 158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1; 165720 OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 214800 CHARGE SYNDROME; 271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 309550 FMR1 GENE; FMR1; 600511 SCHIZOPHRENIA 3; SCZD3; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1; 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7; 601712 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2; 601721 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3; 601753 PEPTIDYL-PROLYL ISOMERASE D; PPID; 601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2; 601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602533 ONCOGENE DJ1; 602912 EUKARYOTIC TRANSLATION INITIATION FACTOR 6; EIF6; 603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N; 604486 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF; 604522 DEFENSIN, ALPHA, 3; DEFA3; 604882 NEUROGENIN 3; NEUROG3; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605693 RAS-ASSOCIATED PROTEIN RAB30; RAB30; 605694 RAS-ASSOCIATED PROTEIN RAB31; RAB31; 606381 G PROTEIN-COUPLED RECEPTOR 91; GPR91; 606847 TCOF1 GENE; TCOF1; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607218 INTERFERON REGULATORY FACTOR 5; IRF5; 607783 MESODERM DEVELOPMENT CANDIDATE GENE 2; MESDC2; 607869 UNC5, C. ELEGANS, HOMOLOG OF, A; UNC5A; 610000 CENTROSOMAL PROTEIN, 55-KD; CEP55; 610303 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG A; MAFA; 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4; 612157 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1; 612413 RNA-BINDING MOTIF PROTEIN 7; RBM7; Clinical Synopsis for 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1; Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS

November 17, 2008
New Entries:: 612407 REGULATOR OF G PROTEIN SIGNALING 21; RGS21; 612408 PARASPECKLE COMPONENT 1; PSPC1; 612409 RNA-BINDING MOTIF PROTEIN 14; RBM14; 612411 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 4; FAT4
Changed Entries:: 139100 GRAYING OF HAIR, PRECOCIOUS; 156569 METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT; 184095 BRACHYOLMIA TYPE 2; 210600 SECKEL SYNDROME 1; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE; 271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE; 300084 NON-POU DOMAIN-CONTAINING OCTAMER-BINDING PROTEIN; NONO; 313700 ANDROGEN RECEPTOR; AR; 600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18; SS18; 600511 SCHIZOPHRENIA 3; SCZD3; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600584 NK2 HOMEOBOX 5; NKX2-5; 600976 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 1; FAT1; 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 602080 PAGET DISEASE OF BONE; PDB; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,; 603149 INTERLEUKIN 17A; IL17A; 604204 SYNTAXIN 17; STX17; 604933 MutY, E. COLI, HOMOLOG OF; MUTYH; 605593 SPLICING FACTOR 3B, SUBUNIT 4; SF3B4; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607783 MESODERM DEVELOPMENT CANDIDATE GENE 2; MESDC2; 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2; 611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2; 611781 PR DOMAIN-CONTAINING PROTEIN 14; PRDM14; 611860 MOVED TO 210720; 612157 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1; 612408 PARASPECKLE COMPONENT 1; PSPC1

November 14, 2008
Changed Entries:: 113500 BRACHYOLMIA TYPE 3; 147141 TRANSCRIPTION FACTOR 3; TCF3; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 174763 POLYMERASE, DNA, GAMMA; POLG; 184095 BRACHYOLMIA TYPE 2; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3; 218040 COSTELLO SYNDROME; 271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE; 271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 516070 ATP SYNTHASE 8; MTATP8; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 603646 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15; 604095 ECTODYSPLASIN A RECEPTOR; EDAR; 605427 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4;; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607472 MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG

November 13, 2008
New Entries:: 612400 OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5; 612401 OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6; 612402 ALS2 C-TERMINAL-LIKE PROTEIN; ALS2CL; 612403 RAS-LIKE, FAMILY 11, MEMBER A; RASL11A; 612404 RAS-LIKE, FAMILY 11, MEMBER B; RASL11B; 612405 ADP-RIBOSYLATION FACTOR-LIKE 9; ARL9
Changed Entries:: 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 140571 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 1; HSP90AA1; 140600 OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2; 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 165720 OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1; 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1; 600682 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8; 600897 GAP JUNCTION PROTEIN, ALPHA-8; GJA8; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 602109 MATRILIN 3; MATN3; 602220 RAS-LIKE, FAMILY 10, MEMBER A; RASL10A; 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1; 603326 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3D; PPP1R3D; 605083 FRIZZLED-RELATED PROTEIN; FRZB; 607850 OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3; 608135 ASPORIN; ASPN; 608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D; 608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3; 609172 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16A; PPP1R16A; 610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7; 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49; 610572 MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2; 610839 OSTEOARTHRITIS SUSCEPTIBILITY 4; OS4; 612402 ALS2 C-TERMINAL-LIKE PROTEIN; ALS2CL; 612405 ADP-RIBOSYLATION FACTOR-LIKE 9; ARL9

November 12, 2008
Changed Entries:: 114240 CALPAIN 3; CAPN3; 134797 FIBRILLIN 1; FBN1; 151623 LI-FRAUMENI SYNDROME 1; LFS1; 170280 PERFORIN 1; PRF1; 173350 PLASMINOGEN; PLG; 193220 VITREORETINOCHOROIDOPATHY; VRCP; 194550 MYELOID ZINC FINGER GENE 1; MZF1; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 300329 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 33; ZBTB33; 601045 CATENIN, DELTA-1; CTNND1; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 602447 PARAOXONASE 2; PON2; 602720 PARAOXONASE 3; PON3; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2; 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1; 604275 CATENIN, DELTA-2; CTNND2; 606265 E1A-BINDING PROTEIN, 400-KD; EP400; 607854 BESTROPHIN 1; BEST1; 610839 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1; 612288 INFLAMMATORY BOWEL DISEASE 20; IBD20

November 11, 2008
New Entries:: 300750 SPASTIC PARAPLEGIA 34, X-LINKED; SPG34; 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS; 612396 ALLANTOICASE; ALLC; 612397 DUAL INTRACELLULAR VON WILLEBRAND FACTOR DOMAIN A-CONTAINING PROTEIN; 612398 RAB-ASSOCIATED PROTEIN RAB21; RAB21; 612399 TRANSDUCIN-LIKE ENHANCER OF SPLIT 6; TLE6
Changed Entries:: 142385 HEPATIC LEUKEMIA FACTOR; HLF; 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1; 162150 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1; 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; 235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME; 300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16; 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS; 303350 MASA SYNDROME; 312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; 600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 600589 SERUM RESPONSE FACTOR; SRF; 600955 PROPROTEIN CONVERTASE 1/3 DEFICIENCY; 601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; 602110 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC29A2; 602193 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC29A1; 603066 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 3; PLOD3; 603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8; 604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10; 605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13; 607152 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19; 609262 CEREBLON; CRBN; 609658 NLR FAMILY, PYRIN-DOMAIN CONTAINING 5; NLRP5; 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33; 610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31; 610363 PEPTIDYLARGININE DEIMINASE, TYPE VI; PADI6; 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1; 611689 OOCYTE-EXPRESSED PROTEIN, DOG, HOMOLOG OF; OOEP; 611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37; 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS

November 10, 2008
New Entries:: 612395 CHOLINE KINASE, BETA; CHKB
Changed Entries:: 103280 H19 GENE; H19; 118491 CHOLINE KINASE, ALPHA; CHKA; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 127750 DEMENTIA, LEWY BODY; DLB; 138945 GRANULIN; GRN; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 160993 N-MYRISTOYLTRANSFERASE 1; NMT1; 191092 TSC2 GENE; TSC2; 191170 TUMOR PROTEIN p53; TP53; 193090 TRANSCOBALAMIN I DEFICIENCY; 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS; 300292 FORKHEAD BOX P3; FOXP3; 302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1; 601987 CARNITINE PALMITOYLTRANSFERASE I, MUSCLE; CPT1B; 603474 RIBOSOMAL PROTEIN S19; RPS19; 603682 RIBOSOMAL PROTEIN S20; RPS20; 603734 INTERFERON REGULATORY FACTOR 3; IRF3; 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES; 605284 TSC1 GENE; TSC1; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 608390 MYOTONIA, POTASSIUM-AGGRAVATED; 612192 ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57

November 7, 2008
New Entries:: 612391 HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,; 612392 CHROMOSOME 8 OPEN READING FRAME 38; C8ORF38; 612393 WAS PROTEIN HOMOLOGY REGION 2 DOMAIN-CONTAINING PROTEIN 1; WHDC1
Changed Entries:: 107269 CD44 ANTIGEN; CD44; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 123910 GRANZYME B; GZMB; 163890 SYNUCLEIN, ALPHA; SNCA; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 191170 TUMOR PROTEIN p53; TP53; 300121 DOUBLECORTIN; DCX; 304050 AICARDI SYNDROME; AIC; 308100 ICHTHYOSIS, X-LINKED; XLI; 600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 602116 YEATS DOMAIN-CONTAINING PROTEIN 4; YEATS4; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 602447 PARAOXONASE 2; PON2; 602544 PARKIN; PARK2; 602720 PARAOXONASE 3; PON3; 603015 TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN; TRRAP; 603449 RUVB, E. COLI, HOMOLOG-LIKE 1; RUVBL1; 604788 RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2; 605077 DNMT1-ASSOCIATED PROTEIN 1; DNMAP1; 605078 TAR DNA-BINDING PROTEIN; TARDBP; 605879 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 606265 E1A-BINDING PROTEIN, 400-KD; EP400; 607060 PARKINSON DISEASE 8; PARK8; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 608465 SENATAXIN; SETX; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10; 612321 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 5; DCDC5; 612373 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 3: SLC29A3; 612386 FERROCHELATASE; FECH

November 6, 2008
New Entries:: 612367 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; 612368 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; 612369 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; 612370 KALLMANN SYNDROME 5; KAL5; 612386 FERROCHELATASE; FECH
Changed Entries:: 146110 HYPOGONADOTROPIC HYPOGONADISM; 147950 KALLMANN SYNDROME 2; KAL2; 168820 PARAOXONASE 1; PON1; 171720 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 173510 CD36 ANTIGEN; CD36; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; 225753 PONTOCEREBELLAR HYPOPLASIA TYPE 4; PCH4; 231050 GELEOPHYSIC DYSPLASIA; 600197 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN; 600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A; 601490 NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2; 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH; 602241 MITOCHONDRIAL INTERMEDIATE PEPTIDASE; MIPEP; 602447 PARAOXONASE 2; PON2; 604503 JUMONJI DOMAIN-CONTAINING 1C; JMJD1C; 605328 KRUPPEL-LIKE FACTOR 13; KLF13; 605462 BASAL CELL CARCINOMA, MULTIPLE; 606829 FRATAXIN; FXN; 607596 PONTOCEREBELLAR HYPOPLASIA TYPE 1; 608027 PONTOCEREBELLAR HYPOPLASIA TYPE 3; PCH3; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 610204 PONTOCEREBELLAR HYPOPLASIA TYPE 5; PCH5; 611523 PONTOCEREBELLAR HYPOPLASIA TYPE 6; PCH6; 611524 ARGINYL-tRNA SYNTHETASE 2; RARS2; 612277 ADAMTS-LIKE PROTEIN 2; ADAMTSL2; 612364 ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612365 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612366 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612369 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 4

November 5, 2008
New Entries:: 612363 ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612364 ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612365 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612366 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612389 PONTOCEREBELLAR HYPOPLASIA TYPE 2B; PCH2B; 612390 PONTOCEREBELLAR HYPOPLASIA TYPE 2C; PCH2C; Clinical Synopsis for 604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB; Clinical Synopsis for 612304 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL
Changed Entries:: 138200 GLUTAMATE PYRUVATE TRANSAMINASE; GPT; 147880 INTERLEUKIN 6 RECEPTOR; IL6R; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1; 173470 INTEGRIN, BETA-3; ITGB3; 188450 THYROGLOBULIN; TG; 193400 VON WILLEBRAND DISEASE; 225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4; 268200 MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE; 277470 PONTOCEREBELLAR HYPOPLASIA TYPE 2A; PCH2A; 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2; 300102 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601694 LEPTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; LEPQTL1; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY; 605518 LIPIN 1; LPIN1; 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1; 608753 tRNA SPLICING ENDONUCLEASE 2, S. CEREVISIAE, HOMOLOG OF; TSEN2; 608754 tRNA SPLICING ENDONUCLEASE 34, S. CEREVISIAE, HOMOLOG OF; TSEN34; 608755 tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF; TSEN54; 608756 tRNA SPLICING ENDONUCLEASE 15, S. CEREVISIAE, HOMOLOG OF; TSEN15; 609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2; 609567 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3; 610920 GTP-BINDING PROTEIN 10; GTPBP10; 612346 GAMMA-GLUTAMYLTRANSFERASE 1; GGT1; 612365 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612366 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS; 612385 MEDIATOR COMPLEX SUBUNIT 19; MED19; 612389 PONTOCEREBELLAR HYPOPLASIA TYPE 2B; PCH2B; Clinical Synopsis for 176860 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL; Clinical Synopsis for 188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; Clinical Synopsis for 227400 FACTOR V DEFICIENCY; Clinical Synopsis for 612336 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL

November 4, 2008
New Entries:: 300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA; 612387 SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2; 612388 SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3
Changed Entries:: 125290 DELTA-AMINOLEVULINATE SYNTHASE 1; ALAS1; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A; 181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1; 182170 SIDEROBLASTIC ANEMIA WITH ERYTHROCYTE DIMORPHISM; 185642 SURFEIT 6; SURF6; 205950 ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE; 206000 ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE; 269950 SIDEROBLASTIC ANEMIA, AUTOSOMAL; 300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA; 301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2; 301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT; 314700 XG BLOOD GROUP SYSTEM; XG; 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 606000 BUTYROPHILIN-LIKE PROTEIN 2; BTNL2; 608847 FERRITIN, MITOCHONDRIAL; FTMT; 610446 BURULI ULCER, SUSCEPTIBILITY TO

November 3, 2008
New Entries:: 612360 CHROMOSOME 20 OPEN READING FRAME 7; C20ORF7
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 118450 ALAGILLE SYNDROME 1; ALGS1; 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 142952 HOMEOBOX A5; HOXA5; 146700 ICHTHYOSIS VULGARIS; 147720 INTERLEUKIN 1-BETA; IL1B; 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME; 182880 SPERM PROTAMINE P1; PRM1; 185300 STURGE-WEBER SYNDROME; 185620 SURFEIT 1; SURF1; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 300747 STEROID SULFATASE; STS; 301780 ARYLSULFATASE C, ISOZYME F; ARSC2; 600535 MESENCHYME HOMEOBOX 2; MEOX2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6; 607042 CLN3 GENE; CLN3; 610175 MICRO RNA 130A; MIRN130A; 611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1; 612381 INFLAMMATORY BOWEL DISEASE 23; IBD23

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OMIM Update List for November, 2008

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