OMIM Update List for September, 2005

PubMed

Nucleotide

Protein

Genome

OMIM Update List for September, 2005

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September 30, 2005
New Entries:: 609622 SHORT QT SYNDROME 3; SQT3; 609624 MITOCHONDRIAL COILED-COIL DOMAIN 1; MCCD1; 609626 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 1; MDGA1
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 138492 GLYCINE RECEPTOR, BETA SUBUNIT; GLRB; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 249500 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 313430 SRY-BOX 3; SOX3; 590025 TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 600807 ASTHMA, SUSCEPTIBILITY TO; 600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2; 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7; 602445 PROTEASE INHIBITOR 12; PI12; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 603681 OTOFERLIN; OTOF; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB; 604478 CHROMOBOX HOMOLOG 5; CBX5; 606709 PROTEASE, SERINE, 12; PRSS12; 609623 RAS-INTERACTING PROTEIN 1; RASIP1; 609624 MITOCHONDRIAL COILED-COIL DOMAIN 1; MCCD1; 609626 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 1; MDGA1; Clinical Synopsis for 181450 ULNAR-MAMMARY SYNDROME; UMS; Clinical Synopsis for 600972 ACHONDROGENESIS, TYPE IB; ACG1B

September 29, 2005
New Entries:: 609619 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 8B; GOLGA8B; 609620 SHORT QT SYNDROME 1; SQT1; 609621 SHORT QT SYNDROME 2; SQT2; 609623 RAS-INTERACTING PROTEIN 1; RASIP1
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 146680 INSULIN-DEGRADING ENZYME; IDE; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 181500 SCHIZOPHRENIA; SCZD; 191170 TUMOR PROTEIN p53; TP53; 600039 BCL2-LIKE 1; BCL2L1; 600798 POLIOVIRUS RECEPTOR-LIKE 2; PVRL2; 603684 LIPASE, ENDOTHELIAL; LIPG; 603729 SPHINGOSINE-1-PHOSPHATE LYASE 1; SGPL1; 604933 MutY, E. COLI, HOMOLOG OF; MUTYH; 605204 TORSIN-A; DYT1; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 605854 BCL2-BINDING COMPONENT 3; BBC3; 607117 MCPH1 GENE; MCPH1; 607157 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 11; SIGLEC11; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; 609591 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1; 609592 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 2; RIT2; 609619 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 8B; GOLGA8B

September 28, 2005
New Entries:: 609569 PHOTOPAROXYSMAL RESPONSE; PPR; 609572 PHOTOPAROXYSMAL RESPONSE 2; PPR2; 609573 PHOTOPAROXYSMAL RESPONSE 3; PPR3; 609607 POLIOVIRUS RECEPTOR-LIKE 4; PVRL4; 609610 GAMMA-TUBULIN COMPLEX COMPONENT 4; 609611 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER E; ANP32E; 609614 RNA EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; REXO1; 609615 QUEUINE tRNA-RIBOSYLTRANSFERASE 1; QTRT1; 609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE; 609617 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 2; SLC30A2; 609618 NONCODING REPRESSOR OF NFAT
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 179820 RENIN; REN; 180860 SILVER-RUSSELL SYNDROME; SRS; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 261600 PHENYLKETONURIA; 267430 RENAL TUBULAR DYSGENESIS; RTD; 273750 THREE M SYNDROME; 275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION; 300100 ADRENOLEUKODYSTROPHY; ALD; 601218 ADENOSINE DEAMINASE, RNA-SPECIFIC, B1; ADARB1; 601665 OBESITY; 602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4; 602930 RNA EXONUCLEASE 4, S. CEREVISIAE, HOMOLOG OF; REXO4; 604230 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 1; ADAT1; 605386 MICRO RNA LET7A1; MIRNLET7A1; 607149 RNA EXONUCLEASE 2, S. CEREVISIAE, HOMOLOG OF; REXO2; 607274 UBIQUITIN-SPECIFIC PROTEASE 14; USP14; 608005 SIL1, S. CEREVISIAE, HOMOLOG OF; 609580 NINEIN-LIKE PROTEIN; 609598 ZINC FINGER AND HOMEODOMAIN PROTEIN 3; ZHX3; 609612 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE; 609615 QUEUINE tRNA-RIBOSYLTRANSFERASE 1; QTRT1

September 27, 2005
New Entries:: 609598 ZINC FINGER AND HOMEODOMAIN PROTEIN 3; ZHX3; 609600 ZINC FINGER PROTEIN 396; ZNF396; 609601 ZINC FINGER PROTEIN 397; ZNF397; 609602 ZINC FINGER PROTEIN 393; ZNF393; 609608 AUTOPHAGY 12, S. CEREVISIAE, HOMOLOG OF; ATG12; 609612 FIBROSIS OF THE EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC; 609613 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 2;
Changed Entries:: 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 134370 COMPLEMENT FACTOR H; CFH; 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 161200 NAIL-PATELLA SYNDROME; NPS; 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB; 256030 NEMALINE MYOPATHY 2; NEM2; 312600 RETINITIS PIGMENTOSA 2, X-LINKED; RP2; 590100 TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY; 600140 CREB-BINDING PROTEIN; CREBBP; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601242 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, ALPHA; MAP1LC3A; 602402 FORKHEAD BOX C2; FOXC2; 603767 KALLIKREIN 4; KLK4; 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5; 607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607839 GLYCOGEN BRANCHING ENZYME; GBE1; 609512 CHROMATIN-MODIFYING PROTEIN 2B; CHMP2B; 609608 AUTOPHAGY 12, S. CEREVISIAE, HOMOLOG OF; ATG12

September 26, 2005
New Entries:: 609603 CRYSTALLIN, GAMMA-N; CRYGN; 609604 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, BETA; MAP1LC3B; 609605 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, GAMMA; MAP1LC3C; 609606 AUTOPHAGY 3, S. CEREVISIAE, HOMOLOG OF; ATG3
Changed Entries:: 117210 SPINOCEREBELLAR ATAXIA 4, PURE, JAPANESE TYPE; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; 142955 HOMEOBOX A1; HOXA1; 147720 INTERLEUKIN 1-BETA; IL1B; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 176820 KALLIKREIN 3; KLK3; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 204700 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE; 218040 COSTELLO SYNDROME; 218800 CRIGLER-NAJJAR SYNDROME; 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 312865 SHORT STATURE HOMEOBOX; SHOX; 313700 ANDROGEN RECEPTOR; AR; 600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABSD; 602183 BAGPIPE HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1; 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2; 602377 DYNAMIN 1; DNM1; 602506 CYCLIN T1; CCNT1; 602721 DISRUPTED MEIOTIC cDNA 1, YEAST, HOMOLOG OF; DMC1; 602909 CLAUDIN 4; CLDN4; 602910 CLAUDIN 3; CLDN3; 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1; 603251 CYCLIN-DEPENDENT KINASE 9; CDK9; 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5; 607328 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 1; HEXIM1; 607452 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 2; GABARAPL2; 608289 IGF2 mRNA-BINDING PROTEIN 2; 608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4; 608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7; Clinical Synopsis for 264700 VITAMIN D-DEPENDENT RICKETS, TYPE I

September 23, 2005
New Entries:: 609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;; Clinical Synopsis for 609166 BRANCHIOGENIC-DEAFNESS SYNDROME
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 117210 SPINOCEREBELLAR ATAXIA 4, PURE, JAPANESE TYPE; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 128990 EARLY GROWTH RESPONSE 1; EGR1; 141250 HEME OXYGENASE 1; HMOX1; 141251 HEME OXYGENASE 2; HMOX2; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 191160 TUMOR NECROSIS FACTOR; TNF; 191510 COLD-SHOCK DOMAIN-CONTAINING E1, RNA-BINDING; CSDE1; 218040 COSTELLO SYNDROME; 300256 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2; 300437 EMBRYONIC STEM CELL-EXPRESSED RAS; ERAS; 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX; 600223 SPINOCEREBELLAR ATAXIA 4; SCA4; 601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HAD; 601769 VITAMIN D RECEPTOR; VDR; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609166 BRANCHIOGENIC-DEAFNESS SYNDROME; 609268 SPLICING FACTOR, ARGININE/SERINE-RICH, 12; SFRS12; 609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;

September 22, 2005
New Entries:: 609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL; 609576 ACYL-CoA DEHYDROGENASE, LONG-CHAIN; ACADL; 609596 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 12; EIF3S12; 609597 PARIETAL FORAMINA 2; PFM2; 609599 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; ANKRD1
Changed Entries:: 123834 CYCLIN D3; CCND3; 168500 PARIETAL FORAMINA; PFM; 201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF; 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; 231520 MOVED TO 273750; 273750 THREE M SYNDROME; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11; 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4; 604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8; 605706 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 3; ANKRD3; 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM; 607549 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 21; ANKRD21; 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 609566 PARIETAL FORAMINA 3; PFM3; 609577 CULLIN 7; CUL7

September 22, 2005
New Entries:: 300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; 300555 DENT DISEASE 2; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 609566 PARIETAL FORAMINA 3; PFM3; 609583 JOUBERT SYNDROME 4; JBTS4; 609588 GLUTAREDOXIN 5; 609589 MITOCHONDRIAL TUMOR SUPPRESSOR GENE 1; MTUS1; 609590 QUAKING, MOUSE, HOMOLOG OF; QKI; 609591 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1; 609592 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 2; RIT2; 609593 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16; LRRC16; 609594 VENTRICULAR ZONE-EXPRESSED PH DOMAIN-CONTAINING PROTEIN, ZEBRAFISH,; 609595 ROOF PLATE-SPECIFIC SPONDIN, MOUSE, HOMOLOG OF; RSPO1; Clinical Synopsis for 606104 MOVED TO 124000; Clinical Synopsis for 607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT; Clinical Synopsis for 609524 FILAMINOPATHY, AUTOSOMAL DOMINANT; Clinical Synopsis for 609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107741 APOLIPOPROTEIN E; APOE; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 113705 BREAST CANCER 1 GENE; BRCA1; 114050 CALBINDIN 1; CALB1; 116806 CATENIN, BETA-1; CTNNB1; 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY; 138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1; 141250 HEME OXYGENASE 1; HMOX1; 141251 HEME OXYGENASE 2; HMOX2; 142623 HIRSCHSPRUNG DISEASE; 146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147720 INTERLEUKIN 1-BETA; IL1B; 157655 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1; NDUFS1; 161015 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1; NDUFV1; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 168500 PARIETAL FORAMINA; PFM; 173870 ADP-RIBOSYLTRANSFERASE; ADPRT; 174763 POLYMERASE, DNA, GAMMA; POLG; 177850 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT; PXE; 177860 REMOVED FROM DATABASE; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 188061 THROMBOSPONDIN II; THBS2; 188250 THYMIDINE KINASE, MITOCHONDRIAL; TK2; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191170 TUMOR PROTEIN p53; TP53; 191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB; 213300 JOUBERT SYNDROME 1; JBTS1; 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY; 256000 LEIGH SYNDROME; LS; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 264810 REMOVED FROM DATABASE; 268800 SANDHOFF DISEASE; 300008 CHLORIDE CHANNEL 5; CLCN5; 300009 DENT DISEASE 1; 300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7; 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2; 300535 OCRL GENE; OCRL; 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX; 300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; 302020 CALBINDIN 3; CALB3; 308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; 310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN; 312450 MOVED TO 252010; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 516001 COMPLEX I, SUBUNIT ND2; MTND2; 516002 COMPLEX I, SUBUNIT ND3; MTND3; 516003 COMPLEX I, SUBUNIT ND4; MTND4; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B; 600532 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2; NDUFV2; 600623 KANGAI 1; KAI1; 600857 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN; SDHA; 601327 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA SUBUNIT; SCN2B; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 601600 ETS VARIANT GENE 5; ETV5; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601632 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 1; POU4F1; 601769 VITAMIN D RECEPTOR; VDR; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7; 602141 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8; 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1; 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;; 602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3;; 602694 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4; 602863 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9A; WNT9A; 602864 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9B; WNT9B; 602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603493 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 5; KCNK5; 603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2; 603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L; 603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;; 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2; 603846 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3; NDUFS3; 603881 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 3; NR1I3; 603921 SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; SUCLA2; 604020 BASSOON, MOUSE, HOMOLOG OF; BSN; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME; BACE; 604311 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604432 SPINOCEREBELLAR ATAXIA 11; SCA11; 604788 RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2; 605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11; 605205 ADENYLYL CYCLASE, SOLUBLE; 605213 3-@PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1; 605317 FORKHEAD BOX P2; FOXP2; 605353 GHRELIN; 605918 SPONDIN 2; SPON2; 606104 MOVED TO 124000; 606127 MYOCARDIN; MYOCD; 607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT; 608091 JOUBERT SYNDROME 2; JBTS2; 608629 JOUBERT SYNDROME 3; JBTS3; 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 609589 MITOCHONDRIAL TUMOR SUPPRESSOR GENE 1; MTUS1; 609593 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16; LRRC16; 609595 ROOF PLATE-SPECIFIC SPONDIN, MOUSE, HOMOLOG OF; RSPO1; Clinical Synopsis for 149400 HYPEREXPLEXIA, HEREDITARY; Clinical Synopsis for 184850 STIFF-PERSON SYNDROME; SPS; Clinical Synopsis for 300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; Clinical Synopsis for 600223 SPINOCEREBELLAR ATAXIA 4; SCA4

Changed Entries:

September 16, 2005
New Entries:: 609584 L-2-HYDROXYGLUTARATE DEHYDROGENASE; L2HGDH; 609585 COMPLEXIN 3; CPLX3; 609586 COMPLEXIN 4; CPLX4; 609587 REGULATOR OF CHROMOSOME CONDENSATION 2; RCC2
Changed Entries:: 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA; 173510 CD36 ANTIGEN; CD36; 179710 REGULATOR OF CHROMOSOME CONDENSATION 1; RCC1; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 236792 L-2-HYDROXYGLUTARIC ACIDURIA; 300377 DYSTROPHIN; DMD; 601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1; 601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG; 601329 LIM DOMAIN KINASE 1; LIMK1; 602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1; 603961 SEMAPHORIN 3A; SEMA3A; 608729 ANGIOTENSIN II RECEPTOR-ASSOCIATED PROTEIN; AGTRAP

September 15, 2005
Changed Entries:: 109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA; 168461 CYCLIN D1; CCND1; 180200 RETINOBLASTOMA; RB1; 191170 TUMOR PROTEIN p53; TP53; 210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF; 300377 DYSTROPHIN; DMD; 300408 GRIP1-ASSOCIATED PROTEIN 1; GRIPAP1; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 602004 PROTEIN-TYROSINE KINASE 6; PTK6; 602714 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12; 605166 HISTONE DEACETYLASE 3; HDAC3; 605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6; 606673 BETA-UREIDOPROPIONASE; UPB1; Clinical Synopsis for 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH; Clinical Synopsis for 264700 VITAMIN D-DEPENDENT RICKETS, TYPE I; Clinical Synopsis for 277440 VITAMIN D-DEPENDENT RICKETS, TYPE II; Clinical Synopsis for 300009 DENT DISEASE; Clinical Synopsis for 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; Clinical Synopsis for 600081 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE; Clinical Synopsis for 600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR

September 14, 2005
New Entries:: 609578 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 2; RCM2; 609579 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; 609580 NINEIN-LIKE PROTEIN; 609581 LATERAL MENINGOCELE SYNDROME; 609582 MICRO RNA 122A; MIRN122A
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1; 130720 EMPTY SELLA TURCICA, PRIMARY, WITH GENERALIZED DYSPLASIA; 147183 RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA,; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 147620 INTERLEUKIN 6; IL6; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 167410 PAIRED BOX GENE 7; PAX7; 168461 CYCLIN D1; CCND1; 176760 PROLACTIN; PRL; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 180202 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1A; JARID1A; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191130 TUBULIN, BETA; TUBB; 191170 TUMOR PROTEIN p53; TP53; 300254 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1; 309600 MOVED TO 300523; 600288 FORKHEAD BOX A2; FOXA2; 601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; 601423 THYMINE-DNA GLYCOSYLASE; TDG; 601594 JUMONJI, AT-RICH INTERACTIVE DOMAIN 2; JARID2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601778 POLYMERASE, RNA, MITOCHONDRIAL; POLRMT; 601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1; 602294 FORKHEAD BOX A1; FOXA1; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 605053 TAR RNA-BINDING PROTEIN 2; TARBP2; 606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606597 PAIRED BOX GENE 3; PAX3; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; Clinical Synopsis for 133020 ERYTHERMALGIA, PRIMARY; Clinical Synopsis for 193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR; Clinical Synopsis for 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; Clinical Synopsis for 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH; Clinical Synopsis for 300009 DENT DISEASE; Clinical Synopsis for 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; Clinical Synopsis for 308990 LOW MOLECULAR WEIGHT PROTEINURIA, ASYMPTOMATIC; LMWP; Clinical Synopsis for 309600 MOVED TO 300523; Clinical Synopsis for 310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN; Clinical Synopsis for 600081 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE; Clinical Synopsis for 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO

September 13, 2005
New Entries:: 609577 CULLIN 7; CUL7
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 147950 KALLMANN SYNDROME 2; KAL2; 164160 LEPTIN; LEP; 173880 POLYMERIC IMMUNOGLOBULIN RECEPTOR; PIGR; 179510 RAS-ASSOCIATED PROTEIN RAB3B; RAB3B; 188410 THYMOCYTE ANTIGEN CD1D; CD1D; 214800 CHARGE SYNDROME; 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2; 600464 ADP-RIBOSYLATION FACTOR 6; ARF6; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 601121 PLACENTAL GROWTH FACTOR; PGF; 601434 S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A; 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1; 601665 OBESITY; 601749 GLOMULIN; GLMN; 602069 NEUROPILIN 1; NRP1; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 602538 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 2; CUGBP2; 602606 COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT; 602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2; 603814 RING-BOX 1; RBX1; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; 604477 CHROMOBOX HOMOLOG 3; CBX3; 606122 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 19; TNFRSF19; 606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD; 606633 TRANSCRIPTION FACTOR Sp7; SP7; 607392 WW DOMAIN-CONTAINING TRANSCRIPTION REGULATOR 1; WWTR1; 609073 F-BOX AND WD40 DOMAIN PROTEIN 8; FBXW8

September 12, 2005
New Entries:: 609574 17-@BETA-HYDROXYSTEROID DEHYDROGENASE XII; HSD17B12
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 300366 TOLL-LIKE RECEPTOR 8; TLR8; 605843 PEROXISOMAL TRANS-2-ENOYL-CoA REDUCTASE; PECR; 608223 ASPIRIN RESISTANCE; Clinical Synopsis for 264700 VITAMIN D-DEPENDENT RICKETS, TYPE I; Clinical Synopsis for 277440 VITAMIN D-DEPENDENT RICKETS, TYPE II; Clinical Synopsis for 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES; Clinical Synopsis for 600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR

September 9, 2005
New Entries:: 609570 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8; MGR8; 609571 ZINC FINGER PROTEIN 699; ZNF699
Changed Entries:: 114500 COLORECTAL CANCER; CRC; 155760 AGGRECAN 1; AGC1; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 300084 NON-POU DOMAIN-CONTAINING OCTAMER-BINDING PROTEIN; NONO; 300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3; 600600 EPHRIN RECEPTOR EphB1; EPHB1; 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST; 600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G; 600800 NGFIA-BINDING PROTEIN; NAB1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 605451 p21-ACTIVATED KINASE 4; PAK4; 609012 WD REPEAT-CONTAINING PROTEIN 5; WDR5; 609570 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8; MGR8

September 8, 2005
Changed Entries:: 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 116806 CATENIN, BETA-1; CTNNB1; 124095 CYTOPLASMIC TYROSINE KINASE; CSK; 143100 HUNTINGTON DISEASE; HD; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 155760 AGGRECAN 1; AGC1; 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1; 181500 SCHIZOPHRENIA; SCZD; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 224050 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH; 600511 SCHIZOPHRENIA 3; SCZD3; 604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2; 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; Clinical Synopsis for 224050 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH

September 7, 2005
Changed Entries:: 132350 EPIMORPHIN; EPIM; 154030 NUCLEASE-SENSITIVE ELEMENT-BINDING PROTEIN 1; NSEP1; 157130 MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; 600516 BCL2 ANTAGONIST KILLER 1; BAK1; 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX; 608160 SRY-BOX 9; SOX9; Clinical Synopsis for 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

September 6, 2005
New Entries:: 300556 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2
Changed Entries:: 114290 CAMPOMELIC DYSPLASIA; 131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 168600 PARKINSON DISEASE; PD; 174763 POLYMERASE, DNA, GAMMA; POLG; 176797 ZINC FINGER PROTEIN 145; ZNF145; 179820 RENIN; REN; 187930 COAGULATION FACTOR II RECEPTOR; F2R; 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 300197 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 1; ATP6AP1; 300556 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601919 COAGULATION FACTOR II RECEPTOR-LIKE 2; F2RL2; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2; 603931 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E; ATP6V0E; 604256 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2; 605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1; 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C; 607060 PARKINSON DISEASE 8; PARK8; 607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO; 607772 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 1;; 608160 SRY-BOX 9; SOX9; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609547 MOVED TO 131200

September 2, 2005
New Entries:: 300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3; 609568 GTPase-ACTIVATING PROTEIN, RHO, 20; ARHGAP20
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 122700 COUMARIN RESISTANCE; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 139320 GNAS COMPLEX LOCUS; GNAS; 145500 HYPERTENSION, ESSENTIAL; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 180300 RHEUMATOID ARTHRITIS; RA; 181000 SARCOIDOSIS; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17; 218700 THYROID DYSGENESIS; 300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3; 590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH; 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9; 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11; 602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9; 602629 DYSTONIA 6, TORSION; DYT6; 603554 OMENN SYNDROME; 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2; 605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL; 605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA; 606000 BUTYROPHILIN-LIKE PROTEIN 2; BTNL2; 606417 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 2; BRWD2; 609464 SARCOIDOSIS, EARLY-ONSET; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO

September 1, 2005
New Entries:: 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX; 609565 MAST CELL-EXPRESSED MEMBRANE PROTEIN 1; 609567 ADIPONUTRIN; ADPN
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 110900 BLOOD GROUP--KELL-CELLANO SYSTEM; KEL; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 133700 EXOSTOSES, MULTIPLE, TYPE I; 145290 HYPERREFLEXIA; HRX; 146300 HYPOPHOSPHATASIA, ADULT TYPE; 146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 179835 REPLICATION PROTEIN A1, 70-KD; RPA1; 182309 SOLUTE CARRIER FAMILY 34 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR; 201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17; 202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1; 207410 ANTLEY-BIXLER SYNDROME; ABS; 241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE; 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300008 CHLORIDE CHANNEL 5; CLCN5; 300102 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4; 300105 SPERMINE SYNTHASE; SMS; 307800 HYPOPHOSPHATEMIA, X-LINKED; 307810 MOVED TO 307800 AND 300550; 601282 PLECTIN 1; PLEC1; 601471 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1; 605380 FIBROBLAST GROWTH FACTOR 23; FGF23; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2; 609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11; 609567 ADIPONUTRIN; ADPN

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OMIM Update List for September, 2005

September 30, 2005

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