OMIM Update List for November, 2006

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Nucleotide

Protein

Genome

OMIM Update List for November, 2006

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November 30, 2006
New Entries:: 610617 DENTICLELESS, DROSOPHILA, HOMOLOG OF; DTL; 610620 ADP-RIBOSYLHYDROLASE-LIKE 1; ADPRHL1; 610621 INTURNED, DROSOPHILA, HOMOLOG OF; INTU; 610622 FUZZY, DROSOPHILA, HOMOLOG OF; FUZ; 610624 ADP-RIBOSYLHYDROLASE-LIKE 2; ADPRHL2; 610625 ADP-RIBOSYLTRANSFERASE 5; ART5
Changed Entries:: 180040 CHROMOSOME 1 OPEN READING FRAME 36; C1ORF36; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4; 601625 ADP-RIBOSYLTRANSFERASE 1; ART1; 601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I; 602908 RETINOBLASTOMA-BINDING PROTEIN 9; RBBP9; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603086 ADP-RIBOSYLTRANSFERASE 3; ART3; 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1; 609471 GLUCOSIDASE, BETA, ACID 2; GBA2; 609708 LIPOPROTEIN LIPASE; LPL; 610382 PROSOPAGNOSIA, HEREDITARY; 610617 DENTICLELESS, DROSOPHILA, HOMOLOG OF; DTL

November 29, 2006
New Entries:: 610605 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 2; CPEB2; 610606 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 3; CPEB3; 610607 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4; CPEB4; 610608 GINS COMPLEX SUBUNIT 1; GINS1; 610609 GINS COMPLEX SUBUNIT 2; GINS2; 610610 GINS COMPLEX SUBUNIT 3; GINS3; 610611 GINS COMPLEX SUBUNIT 4; GINS4; 610612 LEBER CONGENITAL AMAUROSIS, TYPE XII; LCA12; 610614 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 1; TBRG1; 610615 PARTNER OF ARF; 610616 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 12; ANKRD12
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 116945 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 2; MCM2; 125645 DESMOCOLLIN 2; DSC2; 139259 G1- TO S-PHASE TRANSITION 1; GSPT1; 146690 IMP DEHYDROGENASE 1; IMPDH1; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147574 INTERFERON-STIMULATED TRANSCRIPTION FACTOR 3, GAMMA; ISGF3G; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 164035 NUCLEOLIN; NCL; 180040 RETINAL DEGENERATION 3, MOUSE, HOMOLOG OF; RD3; 300037 GLYPICAN 3; GPC3; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600759 PRESENILIN 2; PSEN2; 601032 PROTEIN KINASE N1; PKN1; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602549 PROTEIN KINASE N2; PKN2; 602694 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4; 602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603465 CELL DIVISION CYCLE 45, S. CEREVISIAE, HOMOLOG-LIKE; CDC45L; 604524 LYMPHOCYTE ANTIGEN 75; LY75; 605248 MUCOLIPIN 1; MCOLN1; 609512 CHROMATIN-MODIFYING PROTEIN 2B; CHMP2B; 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49; 610572 MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2; 610603 AlkB, E. COLI, HOMOLOG OF, 3; ALKBH3; 610608 GINS COMPLEX SUBUNIT 1; GINS1; 610612 LEBER CONGENITAL AMAUROSIS, TYPE XII; LCA12; 610614 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 1; TBRG1

November 28, 2006
New Entries:: 610602 AlkB, E. COLI, HOMOLOG OF, 2; ALKBH2; 610603 AlkB, E. COLI, HOMOLOG OF, 3; ALKBH3; 610604 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, PSEUDOGENE
Changed Entries:: 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE; 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ; 181500 SCHIZOPHRENIA; SCZD; 209850 AUTISM; 229150 MOVED TO 300624; 229300 FRIEDREICH ATAXIA 1; FRDA; 241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE; 245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS; 251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA; 300624 FRAGILE X MENTAL RETARDATION SYNDROME; 309550 FMR1 GENE; 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3; 600805 LAMININ, ALPHA-3; LAMA3; 600980 DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1; DMP1; 601992 FRIEDREICH ATAXIA 2; 602241 MITOCHONDRIAL INTERMEDIATE PEPTIDASE; MIPEP; 602745 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, BETA; PIP5K1B; 603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1; 603131 PEPTIDASE-BETA, MITOCHONDRIAL PROCESSING; PMPCB; 603182 INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3; 603680 SCA8 GENE; SCA8; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604270 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 4; LRP4; 604434 KALLIKREIN-RELATED PEPTIDASE 11; KLK11; 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2; 605145 ANK, MOUSE, HOMOLOG OF; ANKH; 605345 AlkB, E. COLI, HOMOLOG OF, 1; ALKBH1; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605505 KALLIKREIN-RELATED PEPTIDASE 13; KLK13; 605539 KALLIKREIN-RELATED PEPTIDASE 12; KLK12; 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1; 606135 KALLIKREIN-RELATED PEPTIDASE 14; KLK14; 606546 HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI; 606829 FRATAXIN; FXN; 607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO; 609512 CHROMATIN-MODIFYING PROTEIN 2B; CHMP2B; Clinical Synopsis for 607373 AUTISM, SUSCEPTIBILITY TO, 2; Clinical Synopsis for 608049 AUTISM, SUSCEPTIBILITY TO, 3; Clinical Synopsis for 608636 AUTISM, SUSCEPTIBILITY TO, 1

November 27, 2006
New Entries:: 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 300624 FRAGILE X MENTAL RETARDATION SYNDROME; 300628 FERM DOMAIN-CONTAINING 7; FRMD7; 610594 FOLLICULIN-INTERACTING PROTEIN 1; FNIP1; 610601 KALLIKREIN-RELATED PEPTIDASE 15; KLK15
Changed Entries:: 103280 H19 GENE; H19; 117550 SOTOS SYNDROME; 118400 CHERUBISM; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 135150 BIRT-HOGG-DUBE SYNDROME; BHD; 136610 FRAGILE SITE 2q11; 137141 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G; 143100 HUNTINGTON DISEASE; HD; 147910 KALLIKREIN 1; KLK1; 147960 KALLIKREIN-RELATED PEPTIDASE 2; KLK2; 157129 MICROTUBULE-ASSOCIATED PROTEIN 1B; MAP1B; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 160900 DYSTROPHIA MYOTONICA 1; 163950 NOONAN SYNDROME 1; NS1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS; 176820 KALLIKREIN-RELATED PEPTIDASE 3; KLK3; 180300 RHEUMATOID ARTHRITIS; RA; 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT; 188450 THYROGLOBULIN; TG; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR; 206800 ANONYCHIA CONGENITA; 209850 AUTISM; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300031 FRAGILE SITE F, X-LINKED; FRAXF; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11; 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; 300431 ATKIN-FLAITZ SYNDROME; 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; 300628 FERM DOMAIN-CONTAINING 7; FRMD7; 306900 HEMOPHILIA B; HEMB; 309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS; 309541 MENTAL RETARDATION, X-LINKED 3; MRX3; 309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE; 309550 FMR1 GENE; 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1; 313700 ANDROGEN RECEPTOR; AR; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600651 FRAGILE SITE 11B; FRA11B; 600819 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1; FXR1; 601145 CYSTATIN B; CSTB; 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT; 602652 KALLIKREIN-RELATED PEPTIDASE 6; KLK6; 602673 KALLIKREIN-RELATED PEPTIDASE 10; KLK10; 602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1; 602740 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1; 602742 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1; 603363 CGG-BINDING PROTEIN 1; CGGBP1; 603767 KALLIKREIN-RELATED PEPTIDASE 4; KLK4; 604354 NUCLEAR FRAGILE X MENTAL RETARDATION PROTEIN-INTERACTING PROTEIN 1;; 604438 KALLIKREIN-RELATED PEPTIDASE 7; KLK7; 605339 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2; FXR2; 605504 KALLIKREIN-RELATED PEPTIDASE 9; KLK9; 605643 KALLIKREIN-RELATED PEPTIDASE 5; KLK5; 605644 KALLIKREIN-RELATED PEPTIDASE 8; KLK8; 606438 HUNTINGTON DISEASE-LIKE 2; HDL2; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 607273 FOLLICULIN; FLCN; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; 610573 R-SPONDIN FAMILY, MEMBER 4; RSPO4; 610587 RHO GTPase-ACTIVATING PROTEIN 25; ARHGAP25

November 22, 2006
New Entries:: 300626 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 11; ASB11; 300627 ZINC FINGER PROTEIN 449; ZNF449; 610595 FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE, S. CEREVISIAE, HOMOLOG OF;; 610596 BLOCK OF PROLIFERATION 1; BOP1; 610597 GLUTAMATE-RICH WD REPEAT-CONTAINING PROTEIN 1; GRWD1; 610598 PRCD, DOG, HOMOLOG OF; PRCD; 610599 RETINITIS PIGMENTOSA 36; RP36
Changed Entries:: 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 161200 NAIL-PATELLA SYNDROME; NPS; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 176797 ZINC FINGER PROTEIN 145; ZNF145; 224500 DYSTONIA, TORSION, 2, AUTOSOMAL RECESSIVE; DYT2; 300037 GLYPICAN 3; GPC3; 300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3; 314997 ZINC FINGER PROTEIN 75; ZNF75; 600852 RETINITIS PIGMENTOSA 17; RP17; 601401 MYELOID LEUKEMIA FACTOR 2; MLF2; 604742 DOUBLECORTIN- AND CALMODULIN KINASE-LIKE 1; DCAMKL1; 606441 PROTEASE, SERINE, 25; PRSS25; 610215 RAC- AND CDC42-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR; 610226 ZINC FINGER PROTEIN 750; ZNF750; 610297 PARKINSON DISEASE 13; PARK13; 610401 NETRIN 4; NTN4; 610435 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6C; LY6G6C; 610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2; 610591 RHO GTPase-ACTIVATING PROTEIN 27; ARHGAP27; 610595 FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE, S. CEREVISIAE, HOMOLOG OF;; 610598 PRCD, DOG, HOMOLOG OF; PRCD

November 21, 2006
New Entries:: 610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3; 610583 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 6; ANKRD6; 610584 TRIPARTITE MOTIF-CONTAINING PROTEIN 67; TRIM67; 610585 RHO GTPase-ACTIVATING PROTEIN 22; ARHGAP22; 610586 RHO GTPase-ACTIVATING PROTEIN 24; ARHGAP24; 610587 RHO GTPase-ACTIVATING PROTEIN 25; ARHGAP25; 610588 DENDRIN; DDN; 610589 RHO GTPase-ACTIVATING PROTEIN 11A; ARHGAP11A; 610590 RHO GTPase-ACTIVATING PROTEIN 23; ARHGAP23; 610591 RHO GTPase-ACTIVATING PROTEIN 27; ARHGAP27; 610592 RHO GTPase-ACTIVATING PROTEIN 28; ARHGAP28; 610593 MAP6 DOMAIN-CONTAINING PROTEIN 1; MAP6D1
Changed Entries:: 103275 ADRENOMEDULLIN; ADM; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3; 147720 INTERLEUKIN 1-BETA; IL1B; 150570 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 187930 COAGULATION FACTOR II RECEPTOR; F2R; 300625 KITA-KYUSHU LUNG CANCER ANTIGEN 1; 600114 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 3; CCT3; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 600986 TRIPARTITE MOTIF-CONTAINING PROTEIN 46; TRIM46; 604353 CYSTEINE- AND HISTIDINE-RICH DOMAIN-CONTAINING PROTEIN 1; CHORDC1; 604721 SH2 DOMAIN-CONTAINING PROTEIN 1; 605139 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 2; CCT2; 605140 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 7; CCT7; 605142 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 4; CCT4; 605264 SORBIN AND SH3 DOMAIN CONTAINING 1; SORBS1; 605650 POLYMERASE, DNA, KAPPA; POLK; 605796 TUDOR DOMAIN PROTEIN 1; TDRD1; 606005 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN; 606521 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL DEOXYNUCLEOTIDE CARRIER),; 606826 PLEXIN DOMAIN-CONTAINING PROTEIN 1; PLXDC1; 606827 PLEXIN DOMAIN-CONTAINING PROTEIN 2; PLXDC2; 607165 SERINE INCORPORATOR 3; SERINC3; 610337 HEPATITIS B VIRUS-ENCODED X ANTIGEN-UPREGULATED GENE 4; 610348 CHROMOSOME 10 OPEN READING FRAME 6; C10ORF6; 610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1; 610585 RHO GTPase-ACTIVATING PROTEIN 22; ARHGAP22; 610586 RHO GTPase-ACTIVATING PROTEIN 24; ARHGAP24; 610588 DENDRIN; DDN

November 17, 2006
New Entries:: 610580 ONCOGENE PIM3; PIM3; 610581 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2, INTRONIC TRANSCRIPT 1;
Changed Entries:: 102981 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1; 107269 CD44 ANTIGEN; CD44; 107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI; 126150 HEPARIN-BINDING EGF-LIKE GROWTH FACTOR; HBEGF; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 137215 GASTRIC CANCER; 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1; 163950 NOONAN SYNDROME 1; NS1; 164960 ONCOGENE PIM 1; PIM1; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 300295 ONCOGENE PIM2; PIM2; 600181 LIPOCALIN 2; LCN2; 600349 INHIBITOR OF DNA BINDING 1; ID1; 600390 UPSTREAM STIMULATORY FACTOR 2; USF2; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601626 LEUKEMIA, ACUTE MYELOID; AML; 601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1; 602194 PROTEASE, SERINE, 11; PRSS11; 602322 TELOMERASE RNA COMPONENT; TERC; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 603666 SYNTAXIN 16; STX16; 604355 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2; COPG2; 604370 OVARIAN CANCER, EPITHELIAL; 605353 GHRELIN; GHRL; 606611 DEFENSIN, BETA, 103; DEFB103; 608232 LEUKEMIA, CHRONIC MYELOID; CML; 610573 R-SPONDIN FAMILY, MEMBER 4; RSPO4; 610574 R-SPONDIN FAMILY, MEMBER 3; RSPO3; 610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2; Clinical Synopsis for 192500 LONG QT SYNDROME 1; LQT1

November 16, 2006
New Entries:: 300625 KITA-KYUSHU LUNG CANCER ANTIGEN 1; 610573 R-SPONDIN FAMILY, MEMBER 4; RSPO4; 610574 R-SPONDIN FAMILY, MEMBER 3; RSPO3; 610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2; 610576 RHO GTPase-ACTIVATING PROTEIN 9; ARHGAP9; 610577 RHO GTPase-ACTIVATING PROTEIN 12; ARHGAP12; 610578 RHO GTPase-ACTIVATING PROTEIN 15; ARHGAP15; 610579 RCSD DOMAIN-CONTAINING PROTEIN 1; RCSD1
Changed Entries:: 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138275 GLUTAMIC ACID DECARBOXYLASE 2; GAD2; 139190 GROWTH HORMONE-RELEASING HORMONE; GHRH; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 181500 SCHIZOPHRENIA; SCZD; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 182391 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, ALPHA SUBUNIT; SCN3A; 192500 LONG QT SYNDROME 1; LQT1; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 262500 PITUITARY DWARFISM II; 300625 KITA-KYUSHU LUNG CANCER ANTIGEN 1; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 590010 TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE; MTTN; 590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600051 EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE-15; EPS15; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600185 BREAST CANCER 2 GENE; BRCA2; 600252 LOWRY-MACLEAN SYNDROME; 600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1; 600475 TAF10 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600511 SCHIZOPHRENIA 3; SCZD3; 600605 METAXIN 1; MTX1; 600946 GROWTH HORMONE RECEPTOR; GHR; 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601518 PROSTATE CANCER, HEREDITARY, 1; HPC1; 601884 BONE MINERAL DENSITY VARIATION 1; BMND1; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602488 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 2; PSCD2; 602544 PARKIN; PARK2; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 603013 SCHIZOPHRENIA 6; SCZD6; 603176 SCHIZOPHRENIA 7; SCZD7; 603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;; 603806 URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO; 603830 LONG QT SYNDROME 3; LQT3; 603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2; 604382 LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605163 CHEMOKINE, CXC MOTIF, RECEPTOR 6; CXCR6; 605268 JUNCTOPHILIN 3; JPH3; 605833 BONE MINERAL DENSITY VARIATION 2; BMND2; 606202 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP; 606272 CYSTINOSIN; CTNS; 606438 HUNTINGTON DISEASE-LIKE 2; HDL2; 606507 MOVED TO 602488; 606953 UDP-GALACTOSE-4-EPIMERASE; GALE; 606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT; 607111 SPG20 GENE; SPG20; 607279 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY; 607414 FEZ FAMILY ZINC FINGER 2; FEZF2; 607415 G30 GENE; 607574 ARYLSULFATASE A; ARSA; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12; 608034 ASPARTOACYLASE; ASPA; 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608526 PERIODONTITIS, LOCALIZED AGGRESSIVE; 609058 METHYLMALONYL-CoA MUTASE; MUT; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609595 R-SPONDIN FAMILY, MEMBER 1; RSPO1; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 610561 POLYSERASE 3; 610573 R-SPONDIN FAMILY, MEMBER 4; RSPO4; 610574 R-SPONDIN FAMILY, MEMBER 3; RSPO3

November 15, 2006
New Entries:: 610569 UBIQUITIN-SPECIFIC PROTEASE 24; USP24; 610570 UBIQUITIN-SPECIFIC PROTEASE 40; USP40; 610571 FK506-BINDING PROTEIN 11; FKBP11; 610572 MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
Changed Entries:: 114480 BREAST CANCER; 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6; 154780 MARSHALL SYNDROME; 162640 NEUROPEPTIDE Y; NPY; 164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 166260 GNATHODIAPHYSEAL DYSPLASIA; GDD; 167409 PAIRED BOX GENE 2; PAX2; 170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3; 173470 INTEGRIN, BETA-3; ITGB3; 173510 CD36 ANTIGEN; CD36; 173900 POLYCYSTIC KIDNEYS; 176807 PROSTATE CANCER; 180435 RIBONUCLEASE L; RNASEL; 185100 STRABISMUS, SUSCEPTIBILITY TO; 187360 TEMPORAL ARTERITIS; 191080 TRYPTASE, ALPHA/BETA-1; TPSAB1; 191092 TSC2 GENE; TSC2; 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 203310 ALBINISM, OCULAR, AUTOSOMAL RECESSIVE; OAR; 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; 216550 COHEN SYNDROME; COH1; 219700 CYSTIC FIBROSIS; CF; 219800 CYSTINOSIS, NEPHROPATHIC; CTNS; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 224690 EAR, PATELLA, SHORT STATURE SYNDROME; 229700 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1; 230400 GALACTOSEMIA; 232400 GLYCOGEN STORAGE DISEASE III; 236200 HOMOCYSTINURIA; 243400 ISONIAZID INACTIVATION; 248200 STARGARDT DISEASE 1; STGD1; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 261670 PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF; 263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD; 264090 PROGEROID SYNDROME, NEONATAL; 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS; 301500 FABRY DISEASE; 600110 STARGARDT DISEASE 3; STGD3; 603786 STARGARDT DISEASE 4; STGD4; 604587 CALCIUM BINDING AND COILED-COIL DOMAIN PROTEIN 2; CALCOCO2; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3; 605147 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1; 607500 MOVED TO 146390; 608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1; 610559 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 4; RASSF4; 610561 POLYSERASE 3; 610566 MICRO RNA 146A; MIRN146A; Clinical Synopsis for 146390 CHROMOSOME 18p DELETION SYNDROME; Clinical Synopsis for 607500 MOVED TO 146390

November 14, 2006
New Entries:: 610563 KARYOPHERIN ALPHA-6; KPNA6; 610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2; 610565 DYNEIN, AXONEMAL, LIGHT CHAIN 4; DNAL4; 610566 MICRO RNA 146A; MIRN146A; 610567 MICRO RNA 146B; MIRN146B; 610568 ZINC FINGER PROTEIN 687; ZNF687
Changed Entries:: 108721 ATELOSTEOGENESIS, TYPE III; AOIII; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 112310 BOOMERANG DYSPLASIA; 114181 CALMODULIN-LIKE 1; CALML1; 123555 MOVED TO 125220; 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR; 134632 MOVED TO 134629; 134633 MOVED TO 134629; 134634 MOVED TO 134629; 143200 WAGNER SYNDROME 1; WGN1; 145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE; 161000 NAEGELI SYNDROME; 169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT; 179605 RDS, MOUSE, HOMOLOG OF; RDS; 180040 CHROMOSOME 1 OPEN READING FRAME 36; C1ORF36; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 211980 LUNG CANCER; 248200 STARGARDT DISEASE 1; STGD1; 248600 MAPLE SYRUP URINE DISEASE; 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB; 257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B; 258500 OPTIC ATROPHY 6; OPA6; 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2; 300582 SHORT STATURE, IDIOPATHIC, X-LINKED; 300611 C1GALT1-SPECIFIC CHAPERONE 1; C1GALT1C1; 300622 TN SYNDROME; 305425 MOVED TO 134629; 312865 SHORT STATURE HOMEOBOX; SHOX; 516003 COMPLEX I, SUBUNIT ND4; MTND4; 535000 LEBER OPTIC ATROPHY; 600685 KARYOPHERIN ALPHA-2; KPNA2; 600686 KARYOPHERIN ALPHA-1; KPNA1; 601021 NUCLEOPORIN, 98-KD; NUP98; 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH; 601510 SREBP CLEAVAGE-ACTIVATING PROTEIN; 601535 EPHRIN A5; EFNA5; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 601802 HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1; 601892 KARYOPHERIN ALPHA-3; KPNA3; 602533 ONCOGENE DJ1; 602970 KARYOPHERIN ALPHA-4; KPNA4; 603031 TOLL-LIKE RECEPTOR 5; TLR5; 604532 POLYCYSTIN 2-LIKE 1; PKD2L1; 605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3; 606891 Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS; 607117 MCPH1 GENE; MCPH1; 607429 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1; PDSS1; 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD; 607895 POLYCYSTIN 1-LIKE 3; 608714 SYNTROPHIN, GAMMA-1; SNTG1; 609424 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING 1; RC3H1; 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION; 610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67; 610381 CONE-ROD DYSTROPHY 11; 610448 CHILBLAIN LUPUS; 610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC; 610456 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9; SAMD9; 610500 ANKYRIN REPEAT AND KH DOMAIN-CONTAINING PROTEIN 1; ANKHD1; 610503 CHROMOSOME 16 OPEN READING FRAME 5; C16ORF5; 610506 PAF1 RNA POLYMERASE II-ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF;; 610507 LEO1 RNA POLYMERASE II ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF;; 610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A; 610512 SEC23, S. CEREVISIAE, HOMOLOG OF, B; SEC23B; 610513 ATPase, TYPE 13A2; ATP13A2; 610516 GLYCERATE KINASE; GLYCTK; 610527 THIOREDOXIN DOMAIN-CONTAINING 1; TXNDC1; 610529 TUMOR SUPPRESSOR CANDIDATE 1; TUSC1; 610530 TRIPARTITE MOTIF-CONTAINING 41; TRIM41; 610531 FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A; 610532 HYPOMYELINATION AND CONGENITAL CATARACT; 610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1; 610538 UBIQUITIN-CONJUGATING ENZYME E2T; UBE2T; 610544 IGF-LIKE FAMILY MEMBER 1; IGFL1; 610545 IGF-LIKE FAMILY MEMBER 2; IGFL2; 610546 IGF-LIKE FAMILY MEMBER 3; IGFL3; 610547 IGF-LIKE FAMILY MEMBER 4; IGFL4; 610551 HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT; 610552 UBIQUITIN-ACTIVATING ENZYME E1 DOMAIN-CONTAINING 1; UBE1DC1; 610555 CORE 1 SYNTHASE, GLYCOPROTEIN-N-ACETYLGALACTOSAMINE 3-BETA-GALACTOSYLTRANSFERASE,; 610560 PROTEASE, SERINE, 36; PRSS36; 610561 POLYSERASE 3; 610562 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12A; ZC3H12A; 610565 DYNEIN, AXONEMAL, LIGHT CHAIN 4; DNAL4

November 13, 2006
New Entries:: 610561 POLYSERASE 3; 610562 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12A; ZC3H12A
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 180040 CHROMOSOME 1 OPEN READING FRAME 36; C10ORF36; 190685 DOWN SYNDROME; 252650 MUCOLIPIDOSIS IV; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 275000 GRAVES DISEASE; 601995 TENASCIN R; TNR; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 603937 RP1 GENE; RP1; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 605055 ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND; 607014 HURLER SYNDROME; 607312 ZINC FINGER CCCH DOMAIN-CONTAINING ANTIVIRAL PROTEIN 1; ZC3HAV1; 608133 RETINITIS PIGMENTOSA 7; RP7; 608537 VHL GENE; VHL; 609424 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING 1; RC3H1; 610560 PROTEASE, SERINE, 36; PRSS36; 610561 POLYSERASE 3; Clinical Synopsis for 180040 CHROMOSOME 1 OPEN READING FRAME 36; C10ORF36

November 10, 2006
New Entries:: 610422 ALOPECIA WITH MENTAL RETARDATION SYNDROME 2; 610550 METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A; 610559 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 4; RASSF4; 610560 PROTEASE, SERINE, 36; PRSS36; Clinical Synopsis for 610377 MEVALONIC ACIDURIA
Changed Entries:: 103780 ALCOHOL DEPENDENCE; 104300 ALZHEIMER DISEASE; AD; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 116806 CATENIN, BETA-1; CTNNB1; 126450 DOPAMINE RECEPTOR D2; DRD2; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147670 INSULIN RECEPTOR; INSR; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 191160 TUMOR NECROSIS FACTOR; TNF; 192500 LONG QT SYNDROME 1; LQT1; 203650 ALOPECIA WITH MENTAL RETARDATION SYNDROME 1; 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY; 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY; 251170 MEVALONATE KINASE; MVK; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; 258500 OPTIC ATROPHY 6; OPA6; 302020 CALBINDIN 3; CALB3; 590010 TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE; MTTN; 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP; 601468 METHIONINE ADENOSYLTRANSFERASE II, ALPHA; MAT2A; 601481 MYOSIN X; MYO10; 601930 BASONUCLIN 1; BNC1; 602180 SIGNAL-INDUCED PROLIFERATION-ASSOCIATED GENE 1; SIPA1; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 606720 PLACENTAL PROTEIN 11; 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1; 608669 BASONUCLIN 2; BNC2; 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1; 610377 MEVALONIC ACIDURIA; 610559 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 4; RASSF4; Clinical Synopsis for 251170 MEVALONATE KINASE; MVK

November 9, 2006
New Entries:: 610557 HIGHLY ACCELERATED REGION GENE 1B; HAR1B; 610558 MITOGEN-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; MAPKAP1
Changed Entries:: 126450 DOPAMINE RECEPTOR D2; DRD2; 126451 DOPAMINE RECEPTOR D3; DRD3; 128230 DYSTONIA, DOPA-RESPONSIVE; DRD; 134629 FARNESYL DIPHOSPHATE SYNTHASE; FDPS; 134633 MOVED TO 134629; 134634 MOVED TO 134629; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 146390 CHROMOSOME 18p DELETION SYNDROME; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 163890 SYNUCLEIN, ALPHA; SNCA; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 180201 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4A; ARID4A; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 189970 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 192500 LONG QT SYNDROME 1; LQT1; 220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1; 253280 MUSCLE-EYE-BRAIN DISEASE; MEB; 300126 DYSKERIN; DKC1; 300517 SPINDLIN FAMILY, MEMBER 2; 300621 DXF34 GENE; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 305425 MOVED TO 134629; 312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603830 LONG QT SYNDROME 3; LQT3; 604295 VENTRAL ANTERIOR HOMEOBOX 2; VAX2; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 606536 CHLORIDE INTRACELLULAR CHANNEL 4; CLIC4; 606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8;; 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1; 607060 PARKINSON DISEASE 8; PARK8; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 609696 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4B; ARID4B; 610556 HIGHLY ACCELERATED REGION GENE 1A; HAR1A

November 8, 2006
New Entries:: 610556 HIGHLY ACCELERATED REGION GENE 1A; HAR1A
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 113730 UNCOUPLING PROTEIN 1; UCP1; 133430 ESTROGEN RECEPTOR 1; ESR1; 139320 GNAS COMPLEX LOCUS; GNAS; 147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1; 153440 LYMPHOTOXIN-ALPHA; LTA; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 188040 THROMBOMODULIN; THBD; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 230430 MOVED TO 300622; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5; Clinical Synopsis for 230430 MOVED TO 300622; Clinical Synopsis for 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM; Clinical Synopsis for 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; Clinical Synopsis for 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

November 7, 2006
New Entries:: 610543 CHROMOSOME 16p13.3 DELETION SYNDROME; 610551 HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT; 610552 UBIQUITIN-ACTIVATING ENZYME E1 DOMAIN-CONTAINING 1; UBE1DC1; 610553 UBIQUITIN-FOLD MODIFIER 1; UFM1; 610554 UBIQUITIN-FOLD MODIFIER-CONJUGATING ENZYME 1; UFC1; 610555 CORE 1 SYNTHASE, GLYCOPROTEIN-N-ACETYLGALACTOSAMINE 3-BETA-GALACTOSYLTRANSFERASE,
Changed Entries:: 147139 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT;; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147670 INSULIN RECEPTOR; INSR; 150570 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2; 191080 TRYPTASE, ALPHA/BETA-1; TPSAB1; 191170 TUMOR PROTEIN p53; TP53; 209900 BARDET-BIEDL SYNDROME; BBS; 245000 PAPILLON-LEFEVRE SYNDROME; PALS; 277900 WILSON DISEASE; 300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5; 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; 300611 C1GALT1-SPECIFIC CHAPERONE 1; C1GALT1C1; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600374 BBS4 GENE; BBS4; 600863 CASEIN KINASE I, EPSILON; CSNK1E; 601047 CAVEOLIN 1; CAV1; 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; 602365 CATHEPSIN C; CTSC; 602647 NUCLEAR RNA EXPORT FACTOR 1; NXF1; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2; 604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14; 604945 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605419 SCHIZOPHRENIA 10; SCZD10; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP; 606623 17-@BETA-HYDROXYSTEROID DEHYDROGENASE VI; HSD17B6; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608204 UNC93, C. ELEGANS, HOMOLOG OF, B1; UNC93B1; 609722 PDZ AND LIM DOMAIN PROTEIN 2; PDLIM2; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A; 610543 CHROMOSOME 16p13.3 DELETION SYNDROME; 610552 UBIQUITIN-ACTIVATING ENZYME E1 DOMAIN-CONTAINING 1; UBE1DC1; 610553 UBIQUITIN-FOLD MODIFIER 1; UFM1; 610554 UBIQUITIN-FOLD MODIFIER-CONJUGATING ENZYME 1; UFC1

November 6, 2006
New Entries:: 610528 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 8; CHD8; 610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Clinical Synopsis for 608013 GAUCHER DISEASE, PERINATAL LETHAL
Changed Entries:: 100600 ACANTHOSIS NIGRICANS; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 147670 INSULIN RECEPTOR; INSR; 153100 LYMPHEDEMA, HEREDITARY, I; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 180200 RETINOBLASTOMA; RB1; 194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 246300 LEPROSY, SUSCEPTIBILITY TO; 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC; 300614 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY; 590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1; 600516 BCL2 ANTAGONIST KILLER 1; BAK1; 600673 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF; 600970 MYOSIN VI; MYO6; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 602089 HEMANGIOMA, CAPILLARY INFANTILE; 602165 TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27; 603137 CULLIN 4A; CUL4A; 603277 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 4; CHD4; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1; 604167 CCCTC-BINDING FACTOR; CTCF; 604742 DOUBLECORTIN- AND CALMODULIN KINASE-LIKE 1; DCAMKL1; 605048 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 605093 SH2B ADAPTOR PROTEIN 3; SH2B3; 605300 SH2B ADAPTOR PROTEIN 2; SH2B2; 605452 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 6; ABCB6; 606350 APRATAXIN; APTX; 608020 NUCLEOBINDIN 2; NUCB2; 608507 MITOFUSIN 2; MFN2; 608610 PROGRAMMED CELL DEATH 4; PDCD4; 608937 SH2B ADAPTOR PROTEIN 1; SH2B1; 608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1; 609504 MICROSPHERULE PROTEIN 1; MCRS1; 610290 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 610528 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 8; CHD8; 610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1; Clinical Synopsis for 130720 LATERAL MENINGOCELE SYNDROME; Clinical Synopsis for 153100 LYMPHEDEMA, HEREDITARY, I; Clinical Synopsis for 230900 GAUCHER DISEASE, TYPE II; Clinical Synopsis for 231000 GAUCHER DISEASE, TYPE III; Clinical Synopsis for 231005 GAUCHER DISEASE, TYPE IIIC; Clinical Synopsis for 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; Clinical Synopsis for 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2

November 3, 2006
New Entries:: 300622 TN SYNDROME; 610544 IGF-LIKE FAMILY MEMBER 1; IGFL1; 610545 IGF-LIKE FAMILY MEMBER 2; IGFL2; 610546 IGF-LIKE FAMILY MEMBER 3; IGFL3; 610547 IGF-LIKE FAMILY MEMBER 4; IGFL4; 610548 AQUARIUS, MOUSE, HOMOLOG OF; AQR
Changed Entries:: 102560 ACTIN, GAMMA-1; ACTG1; 102642 STEROL O-ACYLTRANSFERASE 1; SOAT1; 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 114480 BREAST CANCER; 114500 COLORECTAL CANCER; CRC; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 116953 CYCLIN-DEPENDENT KINASE 2; CDK2; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 123555 MOVED TO 125220; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 125220 DEFENSIN, ALPHA, 1; DEFA1; 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2; 136533 FORKHEAD BOX O1A; FOXO1A; 138079 GLUCOKINASE; GCK; 146680 INSULIN-DEGRADING ENZYME; IDE; 147562 INTERFERON, ALPHA-2; IFNA2; 147620 INTERLEUKIN 6; IL6; 147640 INTERFERON, BETA-1; IFNB1; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 160745 MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 165720 OSTEOARTHRITIS; 176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA; 176830 PROOPIOMELANOCORTIN; POMC; 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1; 193525 WEE1, S. POMBE, HOMOLOG OF; WEE1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 208050 ARTERIAL TORTUOSITY SYNDROME; ATS; 222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID; 230430 MOVED TO 300662; 230800 GAUCHER DISEASE, TYPE I; 230900 GAUCHER DISEASE, TYPE II; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 300000 OPITZ SYNDROME; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300392 WAS GENE; WAS; 300611 C1GALT1-SPECIFIC CHAPERONE 1; C1GALT1C1; 300614 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY; 300622 TN SYNDROME; 312750 RETT SYNDROME; RTT; 600169 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA; 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 600803 GALLBLADDER DISEASE 1; GBD1; 601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10; 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32; 602333 EPITHELIAL MEMBRANE PROTEIN 1; EMP1; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 603761 RAD9, S. POMBE, HOMOLOG OF, A; RAD9A; 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1; 604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR; 604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA; 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20; 604852 CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11; 605872 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M; 606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 606283 SORCS RECEPTOR 1; SORCS1; 606463 GLUCOSIDASE, BETA, ACID; GBA; 607059 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4; 607358 AUTOIMMUNE REGULATOR; AIRE; 607361 MECKEL SYNDROME, TYPE 3; MKS3; 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; 607864 CAUDAL DUPLICATION ANOMALY; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608069 ERBB RECEPTOR FEEDBACK INHIBITOR 1; ERRFI1; 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2; 609353 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2; ESCO2; 609582 MICRO RNA 122A; MIRN122A; 609661 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 7;; 609981 NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; 610036 CLAUDIN 19; CLDN19; 610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1; 610097 OUTER DENSE FIBER OF SPERM TAILS 4; ODF4; 610149 LOC387715 GENE; 610188 JOUBERT SYNDROME 5; JBTS5; 610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO; 610544 IGF-LIKE FAMILY MEMBER 1; IGFL1; Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1; Clinical Synopsis for 230800 GAUCHER DISEASE, TYPE I

November 2, 2006
New Entries:: 300621 DXF34 GENE; 610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAP2 DEFICIENCY; 610542 MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 176801 PROSAPOSIN; PSAP; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 184429 SRY-BOX 2; SOX2; 191170 TUMOR PROTEIN p53; TP53; 230800 GAUCHER DISEASE, TYPE I; 230900 GAUCHER DISEASE, TYPE II; 231000 GAUCHER DISEASE, TYPE III; 231005 GAUCHER DISEASE, TYPE IIIC; 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL; 300392 WAS GENE; WAS; 300517 SPINDLIN FAMILY, MEMBER 2; 300531 SPROUTY, DROSOPHILA, HOMOLOG OF, 3; SPRY3; 600274 FRONTOTEMPORAL DEMENTIA; 600986 TRIPARTITE MOTIF-CONTAINING PROTEIN 46; TRIM46; 601480 MYOSIN IF; MYO1F; 601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I; 602294 FORKHEAD BOX A1; FOXA1; 604861 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; LATS2; 605078 TAR DNA-BINDING PROTEIN; TARDBP; 606463 GLUCOSIDASE, BETA, ACID; GBA; 607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 1; CPEB1; 607485 FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE; 608013 GAUCHER DISEASE, PERINATAL LETHAL; 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR; 610285 DOWNSTREAM OF TYROSINE KINASE 7; DOK7; Clinical Synopsis for 277900 WILSON DISEASE; Clinical Synopsis for 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; Clinical Synopsis for 311200 OROFACIODIGITAL SYNDROME I; OFD1

November 1, 2006
New Entries:: 610540 GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT; 610541 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3B; PPP1R3B
Changed Entries:: 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 139320 GNAS COMPLEX LOCUS; GNAS; 147460 SUPEROXIDE DISMUTASE 2; SOD2; 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 191092 TSC2 GENE; TSC2; 191100 TUBEROUS SCLEROSIS; TS; 246700 CHYLOMICRON RETENTION DISEASE; CMRD; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600686 KARYOPHERIN ALPHA-1; KPNA1; 600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1; 604896 MKKS GENE; MKKS; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1D; PPM1D; 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 609946 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 47; 610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO; 610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A; 610540 GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT

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OMIM Update List for November, 2006

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