OMIM Update List for November, 2005

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Nucleotide

Protein

Genome

OMIM Update List for November, 2005

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November 30, 2005
New Entries:: 609740 PHD FINGER PROTEIN 19; PHF19
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 129010 EARLY GROWTH RESPONSE 2; EGR2; 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS; 170993 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3; 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY; 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; 269600 SEA-BLUE HISTIOCYTE DISEASE; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V; 601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 602881 PHD FINGER PROTEIN 1; PHF1; 607014 HURLER SYNDROME; 607016 SCHEIE SYNDROME; 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME

November 29, 2005
Changed Entries:: 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5; 133780 EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT; EVR; 160120 EPISODIC ATAXIA, TYPE 1; EA1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 193700 FREEMAN-SHELDON SYNDROME; FSS; 201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17; 207410 ANTLEY-BIXLER SYNDROME; ABS; 300216 COATS DISEASE; 305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2; 310600 NORRIE DISEASE; NDP; 313700 ANDROGEN RECEPTOR; AR; 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2; 601032 PROTEIN KINASE C-LIKE 1; PRKCL1; 601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1; 601524 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1; 602035 PROTEIN PHOSPHATASE 4, CATALYTIC SUBUNIT; PPP4C; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 602633 FOUR-AND-A-HALF LIM DOMAINS 2; FHL2; 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1; 605166 HISTONE DEACETYLASE 3; HDAC3; 605755 DOUBLECORTIN DOMAIN CONTAINING 2; DCDC2; 606552 EPISODIC ATAXIA, TYPE 4; EA4; 606554 EPISODIC ATAXIA, TYPE 3; EA3; 609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4; Clinical Synopsis for 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

November 28, 2005
New Entries:: 609741 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2; 609742 INTERLEUKIN 4-INDUCED GENE 1; IL4I1; 609743 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4B; IGSF4B; 609744 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4C; IGSF4C; 609745 GLAUCOMA 1, OPEN ANGLE, I; GLC1I; 609746 GTPase-ACTIVATING PROTEIN, RHO, 10; ARHGAP10
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 107400 PROTEASE INHIBITOR 1; PI; 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT; 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE; 123630 CRYSTALLIN, BETA-B3; CRYBB3; 133430 ESTROGEN RECEPTOR 1; ESR1; 137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG; 143100 HUNTINGTON DISEASE; HD; 173850 POLIOVIRUS RECEPTOR; PVR; 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1; 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30; 602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL; 604743 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1; 605022 p21-ACTIVATED KINASE 2; PAK2; 605686 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4; IGSF4; 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609376 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1; CATCN1; 609741 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2; 609745 GLAUCOMA 1, OPEN ANGLE, I; GLC1I

November 23, 2005
New Entries:: 609735 RING FINGER AND FYVE-LIKE DOMAIN CONTAINING 1; RFFL; 609736 KIAA1212 GENE; KIAA1212; 609737 CRUMBS, DROSOPHILA, HOMOLOG OF, 3; CRB3; 609738 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 9; IGSF9; 609739 IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 1; ILDR1
Changed Entries:: 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 252800 ALPHA-L-IDURONIDASE; IDUA; 300032 ATR-X GENE; ATRX; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 609721 POLYCYSTIN 1-LIKE 1; PKD1L1; 609737 CRUMBS, DROSOPHILA, HOMOLOG OF, 3; CRB3

November 22, 2005
New Entries:: 300565 CHROMOSOME X OPEN READING FRAME 1; CXORF1; 609721 POLYCYSTIN 1L1; PKD1L1; 609723 YIPPEE-LIKE 2; YPEL2; 609724 YIPPEE-LIKE 3; YPEL3; 609725 YIPPEE-LIKE 4; YPEL4; 609726 YIPPEE-LIKE 5; YPEL5; 609728 METHIONYL-tRNA SYNTHETASE 2; MARS2; 609729 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 3; PDZRN3; 609730 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 4; PDZRN4; 609731 CYSTATIN 11; CST11; 609732 LIGAND OF NUMB PROTEIN X1; LNX1; 609733 LIGAND OF NUMB PROTEIN X2; LNX2
Changed Entries:: 117550 SOTOS SYNDROME; 123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2; 129010 EARLY GROWTH RESPONSE 2; EGR2; 131310 ENGRAILED 2; EN2; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 154705 MARFAN SYNDROME, TYPE II; MFS2; 156560 METHIONYL-tRNA SYNTHETASE; MARS; 157129 MICROTUBULE-ASSOCIATED PROTEIN 1B; MAP1B; 168500 PARIETAL FORAMINA; PFM; 180220 RETINOIC ACID RECEPTOR, BETA; RARB; 185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2; 188450 THYROGLOBULIN; TG; 191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU; 200150 CHOREOACANTHOCYTOSIS; CHAC; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300166 OCULOFACIOCARDIODENTAL SYNDROME; 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; 300397 MOVED TO 300352; 300485 BCL6 COREPRESSOR; BCOR; 600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ; 600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6; 601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30; 604277 SPG4 GENE; SPG4; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 605379 GAN GENE; GAN; 605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A; 606673 BETA-UREIDOPROPIONASE; UPB1; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 608082 YIPPEE-LIKE 1; YPEL1; 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 609032 FSHD GENE 2; 609723 YIPPEE-LIKE 2; YPEL2; 609726 YIPPEE-LIKE 5; YPEL5; 609729 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 3; PDZRN3; 609730 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 4; PDZRN4; 609731 CYSTATIN 11; CST11

November 21, 2005
New Entries:: 300566 LHFP-LIKE PROTEIN 1; LHFPL1; 609718 LHFP-LIKE PROTEIN 2; LHFPL2; 609719 LHFP-LIKE PROTEIN 3; LHFPL3; 609720 CRUMBS, DROSOPHILA, HOMOLOG OF, 2; CRB2; 609722 PDZ AND LIM DOMAIN PROTEIN 2; PDLIM2
Changed Entries:: 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE; 108500 EPISODIC ATAXIA, TYPE 2; EA2; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 147791 JACOBSEN SYNDROME; JBS; 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5; 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA; 158350 COWDEN DISEASE; CD; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 191170 TUMOR PROTEIN p53; TP53; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 227650 FANCONI ANEMIA; FA; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604670 POLYCYSTIN AND SEA URCHIN REJ HOMOLOG-LIKE; PKDREJ; 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1; 605903 PDZ AND LIM DOMAIN PROTEIN 7; PDLIM7; 606159 BASAL GANGLIA DISEASE, ADULT-ONSET; 607103 ARGINYLTRANSFERASE 1; ATE1; 607139 FANCA GENE; FANCA; 608568 MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14; 609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J; 609671 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 3; STEAP3; 609720 CRUMBS, DROSOPHILA, HOMOLOG OF, 2; CRB2

November 19, 2005
New Entries:: 609717 GENE DIFFERENTIALLY EXPRESSED IN PROSTATE
Changed Entries:: 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 176640 PRION PROTEIN; PRNP; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI

November 18, 2005
New Entries:: 609712 PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR; Clinical Synopsis for 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; Clinical Synopsis for 300431 ATKIN SYNDROME
Changed Entries:: 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES; 106150 ANGIOTENSIN I; AGT; 112600 BRACHYDACTYLY, TYPE A2; BDA2; 120252 COLLAGEN, TYPE VIII, ALPHA-2; COL8A2; 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 142410 TRANSCRIPTION FACTOR 1; TCF1; 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 176100 PORPHYRIA CUTANEA TARDA; 179050 PYRUVATE KINASE, MUSCLE, 2; PKM2; 185800 SYMPHALANGISM, PROXIMAL; SYM1; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 206400 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN; 235200 HEMOCHROMATOSIS; HFE; 252150 MOLYBDENUM COFACTOR DEFICIENCY; 252350 MOYAMOYA DISEASE 1; MYMY1; 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC; 266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA; 266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS; 268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE; 272800 TAY-SACHS DISEASE; TSD; 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; 300431 ATKIN SYNDROME; 304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1; 311800 PHOSPHOGLYCERATE KINASE 1; PGK1; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A; 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V; 600390 UPSTREAM STIMULATORY FACTOR 2; USF2; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 602430 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1; 603708 MOLYBDENUM COFACTOR SYNTHESIS 2; MOCS2; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605316 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10; DFNB10; 605511 TRANSMEMBRANE PROTEASE, SERINE 3; TMPRSS3; 605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14; 606463 GLUCOSIDASE, BETA, ACID; GBA; 606869 HEXOSAMINIDASE A; HEXA; 606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5; 608788 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7; 609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2; 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2; Clinical Synopsis for 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC; Clinical Synopsis for 271700 SPONDYLOPERIPHERAL DYSPLASIA; Clinical Synopsis for 309645 METAPHYSEAL ANADYSPLASIA; Clinical Synopsis for 601884 BONE MINERAL DENSITY VARIATION 1; BMND1

November 17, 2005
New Entries:: 300563 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
Changed Entries:: 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1; 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 123875 CYSTEINE-RICH INTESTINAL PROTEIN 1; CRIP1; 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; 148300 KERATOCONUS 1; KTCN1; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 177650 PSEUDOEXFOLIATION OF THE LENS; 191100 TUBEROUS SCLEROSIS; TS; 191170 TUMOR PROTEIN p53; TP53; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 227500 FACTOR VII DEFICIENCY; 254780 MYOCLONIC EPILEPSY OF LAFORA; 261600 PHENYLKETONURIA; 300008 CHLORIDE CHANNEL 5; CLCN5; 300216 COATS DISEASE; 300338 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2; 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2; 310490 COWCHOCK SYNDROME; 600445 ADENOSINE A3 RECEPTOR; ADORA3; 601144 BRUGADA SYNDROME; 601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D; 601766 FRIZZLED, DROSOPHILA, HOMOLOG OF, 9; FZD9; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 603408 FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1; 603409 FRIZZLED, DROSOPHILA, HOMOLOG OF, 6; FZD6; 604157 SECRETED FRIZZLED-RELATED PROTEIN 2; SFRP2; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1; 607364 BARTTER SYNDROME, TYPE 3; 607623 NPC1 GENE; NPC1; 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1; 608283 KINESIN FAMILY MEMBER 21A; KIF21A; 608507 MITOFUSIN 2; MFN2

November 16, 2005
New Entries:: 609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
Changed Entries:: 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 134921 FIBROBLAST GROWTH FACTOR 6; FGF6; 146690 IMP DEHYDROGENASE 1; IMPDH1; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 158810 BETHLEM MYOPATHY; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 176950 MOVED TO 262890; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS; 227650 FANCONI ANEMIA; FA; 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC; 300216 COATS DISEASE; 300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 602593 CORNEODESMOSIN; CDSN; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2; 604479 SIRTUIN 1; SIRT1; 604739 RNA-BINDING REGION-CONTAINING PROTEIN 2; RNPC2; 604824 KLOTHO; KL; 605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH; 605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 608075 PHOSPHOLIPASE C, ZETA-1; PLCZ1; 608223 ASPIRIN RESISTANCE; 609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU; 609715 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 2; TREML2; 609716 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 3; TREML3; Clinical Synopsis for 190440 TRIGONOCEPHALY, NONSYNDROMIC; Clinical Synopsis for 218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG

November 15, 2005
New Entries:: 609708 LIPOPROTEIN LIPASE; LPL; 609713 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF, B; HUS1B; 609714 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 1; TREML1; 609715 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE 2; TREML2; 609716 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE 3; TREML3
Changed Entries:: 102300 RESTLESS LEGS SYNDROME 1; 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 107650 APNEA, OBSTRUCTIVE SLEEP; 107741 APOLIPOPROTEIN E; APOE; 108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5; 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 122700 COUMARIN RESISTANCE; 142340 DIAPHRAGMATIC HERNIA 1; DIH1; 162640 NEUROPEPTIDE Y; NPY; 165080 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE RELATED; ERG; 174763 POLYMERASE, DNA, GAMMA; POLG; 176807 PROSTATE CANCER; 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS; 222400 DIAPHRAGMATIC HERNIA; DIH; 232200 GLYCOGEN STORAGE DISEASE I; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 301200 AMELOGENESIS IMPERFECTA 1, HYPOPLASTIC TYPE; AIH1; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ; 600541 ETS VARIANT GENE 1; ETV1; 602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2; 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1; 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP; 604531 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2; 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC; CPVT; 604824 KLOTHO; KL; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 605085 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1; TREM1; 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2; 606368 APOLIPOPROTEIN A-V; APOA5; 606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5;; 607060 PARKINSON DISEASE 8; PARK8; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609708 LIPOPROTEIN LIPASE; LPL; 609713 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF, B; HUS1B; 609716 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE 3; TREML3

November 14, 2005
New Entries:: 609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3; 609709 GLYCOSYLTRANSFERASE-LIKE 1B; GYLTL1B; 609710 DENDRITIC CELL NUCLEAR PROTEIN 1; 609711 UBIQUINOL-CYTOCHROME c REDUCTASE, 6.4-KD SUBUNIT; UQCR
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1; 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME; 147796 JANUS KINASE 2; JAK2; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 160900 DYSTROPHIA MYOTONICA 1; 173850 POLIOVIRUS RECEPTOR; PVR; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 231670 GLUTARIC ACIDEMIA I; 245550 LAMBERT SYNDROME; 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2; 600223 SPINOCEREBELLAR ATAXIA 4; SCA4; 600798 POLIOVIRUS RECEPTOR-LIKE 2; PVRL2; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1; 602022 MAL-LIKE; MALL; 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1; 602222 MOVED TO 602022; 602356 TNF RECEPTOR-ASSOCIATED FACTOR 5; TRAF5; 603009 DYSFERLIN; DYSF; 603898 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 18; TNFSF18; 603905 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 18; TNFRSF18; 604277 SPG4 GENE; SPG4; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 605129 PROTEASOME ACTIVATOR SUBUNIT 3; PSME3; 605397 CD226 ANTIGEN; CD226; 606037 CD96 ANTIGEN; CD96; 606439 SPG3A GENE; SPG3A; 606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1; 606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; 606652 HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2; 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6; 609709 GLYCOSYLTRANSFERASE-LIKE 1B; GYLTL1B; 609710 DENDRITIC CELL NUCLEAR PROTEIN 1

November 11, 2005
New Entries:: 300564 TSPY-LIKE 2; TSPYL2; 609707 DIHYDROURIDINE SYNTHASE 2-LIKE; DUS2L; Clinical Synopsis for 608091 JOUBERT SYNDROME 2; JBTS2
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 116880 CATHEPSIN L; CTSL; 117210 SPINOCEREBELLAR ATAXIA 4, PURE, JAPANESE TYPE; 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 144650 HYPERLIPOPROTEINEMIA, TYPE V; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 164012 NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2; 191160 TUMOR NECROSIS FACTOR; TNF; 207410 ANTLEY-BIXLER SYNDROME; ABS; 229850 FRYNS SYNDROME; FRNS; 232300 GLYCOGEN STORAGE DISEASE II; 238400 MOVED TO 144650; 257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION; 600108 MATRIX METALLOPROTEINASE 13; MMP13; 600274 FRONTOTEMPORAL DEMENTIA; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9; 602061 EPIREGULIN; EREG; 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 603639 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17; 604714 TSPY-LIKE 1; TSPYL1; 605567 CD27-BINDING PROTEIN; 606368 APOLIPOPROTEIN A-V; APOA5; Clinical Synopsis for 117210 SPINOCEREBELLAR ATAXIA 4, PURE, JAPANESE TYPE; Clinical Synopsis for 201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF; Clinical Synopsis for 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; Clinical Synopsis for 213300 JOUBERT SYNDROME 1; JBTS1; Clinical Synopsis for 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; Clinical Synopsis for 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY; Clinical Synopsis for 600224 SPINOCEREBELLAR ATAXIA 5; SCA5; Clinical Synopsis for 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II; Clinical Synopsis for 602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4; Clinical Synopsis for 608091 JOUBERT SYNDROME 2; JBTS2

November 10, 2005
New Entries:: 609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53; Clinical Synopsis for 602483 AURICULOCONDYLAR SYNDROME; Clinical Synopsis for 609566 PARIETAL FORAMINA 3; PFM3; Clinical Synopsis for 609569 PHOTOPAROXYSMAL RESPONSE; PPR; Clinical Synopsis for 609597 PARIETAL FORAMINA 2; PFM2
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 106100 ANGIOEDEMA, HEREDITARY; HAE; 109565 B-CELL LYMPHOMA 6; BCL6; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2; 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; 131240 ENDOTHELIN 1; EDN1; 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; 144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK; 146931 INTERLEUKIN 9; IL9; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 181800 SCOLIOSIS, IDIOPATHIC; 188400 DIGEORGE SYNDROME; DGS; 209850 AUTISM; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 277700 WERNER SYNDROME; WRN; 300007 INTERLEUKIN 9 RECEPTOR; IL9R; 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; 300560 PHD FINGER PROTEIN 8; PHF8; 306900 HEMOPHILIA B; HEMB; 307700 HYPOPARATHYROIDISM, X-LINKED; HYPX; 313430 SRY-BOX 3; SOX3; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600389 MEPRIN, BETA SUBUNIT; MEP1B; 600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY; 600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK; 601868 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13; 602089 HEMANGIOMA, CAPILLARY INFANTILE; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 605305 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 605719 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 5; WBSCR5; 606407 HOMOZYGOUS 2p21 DELETION SYNDROME; 606446 SLAM FAMILY, MEMBER 6; SLAMF6; 607354 SCOLIOSIS, IDIOPATHIC 2; 607667 CATENIN, ALPHA-3; CTNNA3; 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; 608866 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), CANDIDATE GENE; 609653 MYC-INDUCED MITOCHONDRIAL PROTEIN; 609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53; Clinical Synopsis for 168500 PARIETAL FORAMINA; PFM; Clinical Synopsis for 265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL

November 9, 2005
New Entries:: 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 609705 MICRO RNA 24-1; MIRN24-1
Changed Entries:: 136538 FORMYL PEPTIDE RECEPTOR-LIKE 1; FPRL1; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 185490 SUPEROXIDE DISMUTASE, EXTRACELLULAR; SOD3; 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3; 191170 TUMOR PROTEIN p53; TP53; 300292 FORKHEAD BOX P3; FOXP3; 601799 PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9; 602109 MATRILIN 3; MATN3; 606120 HUMANIN; 609326 MICRO RNA 1; 609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 609705 MICRO RNA 24-1; MIRN24-1; Clinical Synopsis for 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; Clinical Synopsis for 228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES; Clinical Synopsis for 601559 STUVE-WIEDEMANN SYNDROME; Clinical Synopsis for 607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D

November 8, 2005
New Entries:: 609702 TNFSF5-INDUCED PROTEIN 1; TNFSF5IP1; Clinical Synopsis for 154705 MARFAN SYNDROME, TYPE II; MFS2
Changed Entries:: 103285 ADULT SYNDROME; 113000 BRACHYDACTYLY, TYPE B1; BDB1; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 146928 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB; 165330 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL; 218040 COSTELLO SYNDROME; 236100 HOLOPROSENCEPHALY; 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED; 600065 INTEGRIN, BETA-2; ITGB2; 600237 HISTONE CELL CYCLE REGULATION DEFECTIVE, S. CEREVISIAE, HOMOLOG OF,; 600533 VANG-LIKE 2; VANGL2; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 600966 LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 1; LLGL1; 601365 DISHEVELLED 1; DVL1; 601808 CHROMOSOME 18q DELETION SYNDROME; 602037 RAS HOMOLOG GENE FAMILY, MEMBER H; RHOH; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602483 AURICULOCONDYLAR SYNDROME; 602486 PROCESSING OF PRECURSOR 1, S. CEREVISIAE, HOMOLOG OF; POP1; 602491 HYPERLIPIDEMIA, COMBINED, 1; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5; 603566 PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1; 604959 PHORBOL-12-MYRISTATE-13-ACETATE-INDUCED PROTEIN 1; PMAIP1; 605296 DOWN SYNDROME CRITICAL REGION GENE 2; DSCR2; 606112 RIBONUCLEASE P, 14-KD SUBUNIT; RPP14; 606113 PROCESSING OF PRECURSOR 7, RIBONUCLEASE P SUBUNIT; POP7; 606114 PROCESSING OF PRECURSOR 4, S. CEREVISIAE, HOMOLOG OF; POP4; 606115 RIBONUCLEASE P/MRP, 30-KD SUBUNIT; RPP30; 606116 RIBONUCLEASE P/MRP, 38-KD SUBUNIT; RPP38; 606117 RIBONUCLEASE P, 40-KD SUBUNIT; RPP40; 606759 DUAL OXIDASE 2; DUOX2; 607200 HYPOTHYROIDISM, CONGENITAL, DUE TO DUOX2 DEFICIENCY; 608828 RIBONUCLEASE III, NUCLEAR; RNASEN; 609702 TNFSF5-INDUCED PROTEIN 1; TNFSF5IP1; Clinical Synopsis for 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME; Clinical Synopsis for 112300 BOOK SYNDROME; Clinical Synopsis for 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; Clinical Synopsis for 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA; Clinical Synopsis for 138800 GOITER, MULTINODULAR 1; MNG1; Clinical Synopsis for 140000 HAND-FOOT-UTERUS SYNDROME; Clinical Synopsis for 142669 HIP DYSPLASIA, BEUKES TYPE; Clinical Synopsis for 161000 NAEGELI SYNDROME; Clinical Synopsis for 164280 FEINGOLD SYNDROME; Clinical Synopsis for 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS; Clinical Synopsis for 182150 SIMOSA CRANIOFACIAL SYNDROME; Clinical Synopsis for 184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; Clinical Synopsis for 218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG; Clinical Synopsis for 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE; Clinical Synopsis for 261600 PHENYLKETONURIA; Clinical Synopsis for 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS

November 7, 2005
New Entries:: 609700 RAB GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RABGEF1
Changed Entries:: 120700 COMPLEMENT COMPONENT 3; C3; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 126452 DOPAMINE RECEPTOR D4; DRD4; 131240 ENDOTHELIN 1; EDN1; 131243 ENDOTHELIN RECEPTOR, TYPE A; EDNRA; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA; 158350 COWDEN DISEASE; CD; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 167414 PAIRED BOX GENE 5; PAX5; 173445 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1; PECAM1; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 184429 SRY-BOX 2; SOX2; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 191306 KINASE INSERT DOMAIN RECEPTOR; KDR; 206900 ANOPHTHALMOS, TRUE OR PRIMARY; 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB; 600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D; 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 601120 CADHERIN 5; CDH5; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601613 BURKITT LYMPHOMA RECEPTOR 1; BLR1; 601967 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B; 601974 ENDOTHELIAL DIFFERENTIATION GENE 1; EDG1; 602667 NBS1 GENE; NBS1; 603616 RABAPTIN 5; RABPT5; 603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCM2; 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50; 604691 A-KINASE ANCHOR PROTEIN 6; AKAP6; 605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606057 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 606759 DUAL OXIDASE 2; DUOX2; 607200 HYPOTHYROIDISM, CONGENITAL, DUE TO DUOX2 DEFICIENCY; 607675 REST COREPRESSOR; RCOR; 608250 SDS3, YEAST, HOMOLOG OF; 608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2; Clinical Synopsis for 227330 FACIODIGITOGENITAL SYNDROME, RECESSIVE; Clinical Synopsis for 314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY

November 4, 2005
New Entries:: 609699 MONOGLYCERIDE LIPASE; MGLL; Clinical Synopsis for 601453 TRICHODENTAL DYSPLASIA; Clinical Synopsis for 605039 C-LIKE SYNDROME
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 114480 BREAST CANCER; 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9; 140350 HAWKINSINURIA; 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA; 165161 ONCOGENE JUN-B; JUNB; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 188370 THYMOCYTE ANTIGEN CD1A; CD1A; 190685 DOWN SYNDROME; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1; 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; 256450 HYPERINSULINISM, CONGENITAL, AUTOSOMAL RECESSIVE; 276500 MOVED TO 276710; 276710 TYROSINEMIA, TYPE III; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600693 POLYPYRIMIDINE TRACT-BINDING PROTEIN 1; PTBP1; 601453 TRICHODENTAL DYSPLASIA; 603741 ARACHIDONATE 12-LIPOXYGENASE, R TYPE; ALOX12B; 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4; 604031 STEAROYL-CoA DESATURASE; SCD; 605039 C-LIKE SYNDROME; 605364 PSORIASIS SUSCEPTIBILITY 6; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 607206 ARACHIDONATE LIPOXYGENASE 3; ALOXE3; 607358 AUTOIMMUNE REGULATOR; AIRE; 607918 SELENOPROTEIN S; SEPS1; 608370 STEAROYL-CoA DESATURASE 5; SCD5; 608371 OROFACIAL CLEFT 4; 609018 HOLOCARBOXYLASE SYNTHETASE; HLCS; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 609588 GLUTAREDOXIN 5; 609675 SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1; SOSTDC1; Clinical Synopsis for 225280 EEM SYNDROME; Clinical Synopsis for 227330 FACIODIGITOGENITAL SYNDROME, RECESSIVE; Clinical Synopsis for 239711 HYPERTELORISM AND TETRALOGY OF FALLOT; Clinical Synopsis for 271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES; Clinical Synopsis for 272980 TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR; Clinical Synopsis for 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; Clinical Synopsis for 314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY

November 3, 2005
New Entries:: 609698 THYROID HORMONE METABOLISM, ABNORMAL
Changed Entries:: 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE; 134790 FERRITIN LIGHT CHAIN; FTL; 138320 GLUTATHIONE PEROXIDASE; GPX1; 160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT; 180201 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4A; ARID4A; 180202 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1A; JARID1A; 184850 STIFF-PERSON SYNDROME; SPS; 193400 VON WILLEBRAND DISEASE; 204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3; 255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE; 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS; 310400 MYOTUBULAR MYOPATHY 1; MTM1; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601367 STROKE, ISCHEMIC; 602378 DYNAMIN 2; DNM2; 603024 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 1A; ARID1A; 603265 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 3A; ARID3A; 604490 SACSIN; SACS; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 606159 BASAL GANGLIA DISEASE, ADULT-ONSET; 606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1; 607238 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 1; COMMD1; 607693 SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2; SECISBP2; 609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 609698 THYROID HORMONE METABOLISM, ABNORMAL

November 2, 2005
New Entries:: 609695 4-@HYDROXYPHENYLPYRUVATE DIOXYGENASE; HPD; 609696 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4B; ARID4B; 609697 SIN3A-ASSOCIATED PROTEIN, 130-KD
Changed Entries:: 108500 EPISODIC ATAXIA, TYPE 2; EA2; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 136140 FLOATING-HARBOR SYNDROME; 140350 HAWKINSINURIA; 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1; 165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI; 176100 PORPHYRIA CUTANEA TARDA; 180450 RIBOSOMAL RNA 1; RNR1; 181270 SCALP-EAR-NIPPLE SYNDROME; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 243340 MOVED TO 242860; 276710 TYROSINEMIA, TYPE III; 277700 WERNER SYNDROME; WRN; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY; 600725 SONIC HEDGEHOG; SHH; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601290 STRATIFIN; SFN; 603903 SICKLE CELL ANEMIA; 605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13; 607776 SIN3, YEAST, HOMOLOG OF, A; SIN3A; 608250 SDS3, YEAST, HOMOLOG OF; 609682 DNA CROSS-LINK REPAIR PROTEIN 1A; DCLRE1A; 609683 DNA CROSS-LINK REPAIR PROTEIN 1B; DCLRE1B; 609695 4-@HYDROXYPHENYLPYRUVATE DIOXYGENASE; HPD; 609696 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4B; ARID4B; Clinical Synopsis for 243340 MOVED TO 242860

November 1, 2005
New Entries:: 609682 DNA CROSS-LINK REPAIR PROTEIN 1A; DCLRE1A; 609683 DNA CROSS-LINK REPAIR PROTEIN 1B; DCLRE1B; 609694 GEM-INTERACTING PROTEIN; GMIP
Changed Entries:: 136880 FUNDUS ALBIPUNCTATUS; 147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1; 158810 BETHLEM MYOPATHY; 188400 DIGEORGE SYNDROME; DGS; 188450 THYROGLOBULIN; TG; 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8; 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI; 601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5; 602724 SEPTIN 5; SEPT5; 603298 PALMITOYL-PROTEIN THIOESTERASE 2; PPT2; 605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2; 607936 EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF; 608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A; 608866 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), CANDIDATE GENE; 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;; Clinical Synopsis for 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

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