OMIM Update List for August, 2008

PubMed

Nucleotide

Protein

Genome

OMIM Update List for August, 2008

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August 29, 2008
New Entries:: 612260 MYD88 DEFICIENCY
Changed Entries:: 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 184600 CYSTATIN A; CSTA; 194072 WAGR SYNDROME; 240200 HYPOADRENOCORTICISM, FAMILIAL; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 603165 DERMATITIS, ATOPIC; 604020 BASSOON, MOUSE, HOMOLOG OF; BSN; 604316 PSORIASIS SUSCEPTIBILITY 5; PSORS5; 606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3; 608850 MACULAR DYSTROPHY, RETINAL, 3; 609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11; 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; 612241 INFLAMMATORY BOWEL DISEASE 12; IBD12; 612255 INFLAMMATORY BOWEL DISEASE 15; IBD15

August 28, 2008
Changed Entries:: 108345 N-ACETYLTRANSFERASE 1; NAT1; 109535 CD40 ANTIGEN; CD40; 109800 BLADDER CANCER; 114240 CALPAIN 3; CAPN3; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 133430 ESTROGEN RECEPTOR 1; ESR1; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 138120 HEAT-SHOCK 70-KD PROTEIN 5; HSPA5; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 180200 RETINOBLASTOMA; RB1; 180300 RHEUMATOID ARTHRITIS; RA; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 243400 ACETYLATION, SLOW; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3; 253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP; 300721 MICRO RNA LET7F2; MIRNLET7F2; 300722 MICRO RNA 19B2; MIRN19B2; 309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1; 601712 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2; 601721 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3; 601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2; 601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3; 602069 NEUROPILIN 1; NRP1; 603381 FILAMIN B; FLNB; 603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N; 603798 CARBOHYDRATE SULFOTRANSFERASE 2; CHST2; 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15; 604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A; 604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B; 605066 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 605164 HISTONE DEACETYLASE 2; HDAC2; 605386 MICRO RNA LET7A1; MIRNLET7A1; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 606677 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER C; CLEC4C; 607016 SCHEIE SYNDROME; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 607673 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE; 607987 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 10; DNAJC10; 608005 SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1; 610251 ALCOHOL SENSITIVITY, ACUTE; 610767 AUTOPHAGY 16-LIKE 1; ATG16L1; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611206 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 9; DNAJC9; 611208 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN L-LIKE; HNRNPLL; 611247 MAJOR AFFECTIVE DISORDER 4; MAFD4; 612054 REQUIRED FOR CELL DIFFERENTIATION 1, S. POMBE, HOMOLOG OF; RQCD1; 612121 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 1; PNPLA1; 612122 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 7; PNPLA7; 612144 MICRO RNA LET7C; MIRNLET7C; 612145 MICRO RNA LET7D; MIRNLET7D; 612146 MICRO RNA LET7F1; MIRNLET7F1; 612148 MICRO RNA LET7I; MIRNLET7I; 612150 MICRO RNA 25; MIRN25; 612151 MICRO RNA 26A1; MIRN26A1; 612152 MICRO RNA 26B; MIRN26B; 612153 MICRO RNA 27A; MIRN27A; 612154 MICRO RNA 28; MIRN28; 612155 MICRO RNA 31; MIRN31; 612156 MICRO RNA 33A; MIRN33A; 612172 DEAD BOX POLYPEPTIDE 23; DDX23; 612177 RNA, 7SL, CYTOPLASMIC 1; RN7SL1; 612178 CHROMOSOME 1 OPEN READING FRAME 59; C1ORF59; 612179 RNA, 7SL, CYTOPLASMIC 2; RN7SL2; 612180 RNA, 7SL, CYTOPLASMIC 3; RN7SL3; 612181 MUCIN 13, CELL SURFACE-ASSOCIATED; MUC13; 612182 N-ACETYLTRANSFERASE 2; NAT2; 612222 GALACTOSAMINE-6-SULFATE SULFATASE; GALNS; 612244 INFLAMMATORY BOWEL DISEASE 13; IBD13

August 27, 2008
New Entries:: 612222 GALACTOSAMINE-6-SULFATE SULFATASE; GALNS; 612256 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1; MAST1; 612257 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 2; MAST2; 612258 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 3; MAST3; 612259 INFLAMMATORY BOWEL DISEASE 16; IBD16
Changed Entries:: 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 109092 TRIPARTITE MOTIF-CONTAINING PROTEIN 21; TRIM21; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR; 153618 MANNOSE RECEPTOR, C-TYPE, 1; MRC1; 160994 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN M; HNRNPM; 164017 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRNPA1; 164020 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN C; HNRNPC; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 176807 PROSTATE CANCER; 180380 RHODOPSIN; RHO; 191170 TUMOR PROTEIN p53; TP53; 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3; 231100 HEMOCHROMATOSIS, NEONATAL; 241500 HYPOPHOSPHATASIA, INFANTILE; 252300 MORQUIO SYNDROME C; 253000 MORQUIO SYNDROME A; 253010 MORQUIO SYNDROME B; 254400 MYCOSIS FUNGOIDES; 254500 MYELOMA, MULTIPLE; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 269160 SCHIZENCEPHALY; 300610 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRNPH2; 300683 SEPTIN 6; SEPT6; 309400 MENKES DISEASE; 309480 MENTAL RETARDATION ASSOCIATED WITH PSORIASIS; 309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS; 400006 RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600124 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRNPA2B1; 600541 ETS VARIANT GENE 1; ETV1; 601035 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H1; HNRNPH1; 601037 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN F; HNRNPF; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 601210 POLY(rC)-BINDING PROTEIN 2; PCBP2; 601324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRNPD; 601575 FOS-LIKE ANTIGEN 2; FOSL2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601900 INTERFERON REGULATORY FACTOR 4; IRF4; 602119 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2; 602324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H3; HNRNPH3; 602688 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A/B; HNRNPAB; 602869 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRNPU; 602901 TRANSPORTIN 1; TNPO1; 603083 HETEROGENEOUS NUCLEAR RIBOPROTEIN L; HNRNPL; 603445 KH-TYPE SPLICING REGULATORY PROTEIN; KHSRP; 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15; 605368 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3-LIKE; BNIP3L; 605372 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A3; HNRNPA3; 605444 RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, LIKE 2; RBMXL2; 605800 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRNPUL1; 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2; 605811 NTF2-LIKE EXPORT FACTOR 1; NXT1; 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3; 606382 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING,; 607137 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D-LIKE PROTEIN; HNRNPDL; 607139 FANCA GENE; FANCA; 607201 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN R; HNRNPR; 608080 MAESTRO; MRO; 608449 POLYPYRIMIDINE TRACT-BINDING PROTEIN 2; PTBP2; 609409 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A0; HNRNPA0; 609674 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1; ESCO1; 610754 WINGS APART-LIKE PROTEIN, DROSOPHILA, HOMOLOG OF; WAPAL; 611208 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN L-LIKE; HNRNPLL; 612245 INFLAMMATORY BOWEL DISEASE 14; IBD14; Clinical Synopsis for 100300 ADAMS-OLIVER SYNDROME; AOS

August 26, 2008
New Entries:: 612242 CHROMOSOME 10q23 DELETION SYNDROME; 612254 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12; 612255 INFLAMMATORY BOWEL DISEASE 15; IBD15
Changed Entries:: 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 138322 GLUTATHIONE PEROXIDASE 4; GPX4; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 191305 TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK; 191390 INFLAMMATORY BOWEL DISEASE 11; IBD11; 208050 ARTERIAL TORTUOSITY SYNDROME; ATS; 209850 AUTISM; 211980 LUNG CANCER; 231070 GERODERMA OSTEODYSPLASTICA; GO; 251220 MICROCEPHALY-CARDIOMYOPATHY; 251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME; 252100 MOHR SYNDROME; 252320 MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA; 252350 MOYAMOYA DISEASE 1; MYMY1; 252800 ALPHA-L-IDURONIDASE; IDUA; 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC; 253010 MORQUIO SYNDROME B; 255995 NATIVE AMERICAN MYOPATHY; 256150 NEPHROSIALIDOSIS; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY; 256550 NEURAMINIDASE DEFICIENCY; 258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL; 258860 OROFACIODIGITAL SYNDROME IV; OFD4; 259420 OSTEOGENESIS IMPERFECTA, TYPE III; 262400 PITUITARY DWARFISM I; 262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT; 263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; 264120 PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES; 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM; 265880 PYKNOACHONDROGENESIS; 266510 REFSUM DISEASE, INFANTILE FORM; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 267730 RETICULUM CELL SARCOMA; 268130 REVESZ SYNDROME; 268150 RH-NULL, REGULATOR TYPE; RHN; 268300 ROBERTS SYNDROME; RBS; 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2; 269870 SHORT STATURE-OBESITY SYNDROME; SSOS; 270850 SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION; 271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL; 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME; 272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION; 272800 TAY-SACHS DISEASE; TSD; 275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY; 276000 PROTEASE, SERINE, 1; PRSS1; 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS; 277170 VARADI-PAPP SYNDROME; 277990 WOLFF MENTAL RETARDATION SYNDROME; 278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD; 301090 TETRA-AMELIA, X-LINKED; 302200 CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES;; 302380 CATEL-MANZKE SYNDROME; 304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1; 304150 CUTIS LAXA, X-LINKED; 304730 DERMOIDS OF CORNEA; CND; 306900 HEMOPHILIA B; HEMB; 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS; 308100 ICHTHYOSIS, X-LINKED; 308300 INCONTINENTIA PIGMENTI; IP; 308385 INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA; 308960 LEUKEMIA, ACUTE, ?X-LINKED; 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2; 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; 311400 PAINE SYNDROME; 312750 RETT SYNDROME; RTT; 313850 THORACOABDOMINAL SYNDROME; THAS; 314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED; 314700 XG BLOOD GROUP SYSTEM; XG; 430000 INTERLEUKIN 3 RECEPTOR, Y-CHROMOSOMAL; IL3RA; 502000 AGING; 502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 516001 COMPLEX I, SUBUNIT ND2; MTND2; 516002 COMPLEX I, SUBUNIT ND3; MTND3; 516003 COMPLEX I, SUBUNIT ND4; MTND4; 516004 COMPLEX I, SUBUNIT ND4L; MTND4L; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 530000 KEARNS-SAYRE SYNDROME; KSS; 535000 LEBER OPTIC ATROPHY; 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED; 590010 TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE; MTTN; 600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE; 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND; 600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1; 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; 600331 PARC SYNDROME; 600360 APLASIA CUTIS CONGENITA OF LIMBS, RECESSIVE; 600546 INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY; 600725 SONIC HEDGEHOG; SHH; 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602322 TELOMERASE RNA COMPONENT; TERC; 604020 BASSOON, MOUSE, HOMOLOG OF; BSN; 604379 HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH; 604851 G-RICH RNA SEQUENCE-BINDING FACTOR 1; GRSF1; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 606478 PROTECTION OF TELOMERES 1; POT1; 607365 LIPASE H; LIPH; 608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4; SLEB4; 608700 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1; 609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5; 609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6; 610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7; SLEB7; 610066 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8; SLEB8; 610085 FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A; 610453 HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT; 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9; 612241 INFLAMMATORY BOWEL DISEASE 12; IBD12; 612245 INFLAMMATORY BOWEL DISEASE 14; IBD14; 612254 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12

August 25, 2008
New Entries:: 612253 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11
Changed Entries:: 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2; 146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4; 164060 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 1; NAP1L1; 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS; 180902 RYANODINE RECEPTOR 2; RYR2; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE; 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A; 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; 300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; 600237 HISTONE CELL CYCLE REGULATION DEFECTIVE, S. CEREVISIAE, HOMOLOG OF,; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1; 603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A; 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1; 604365 PROMININ 1; PROM1; 604378 BECLIN 1; BECN1; 605188 G PROTEIN-COUPLED RECEPTOR 85; GPR85; 605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6; 605384 INTERLEUKIN 21; IL21; 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3; 606462 RAD21, S. POMBE, HOMOLOG OF; RAD21; 606666 G PROTEIN-COUPLED RECEPTOR 48; GPR48; 606674 INFLAMMATORY BOWEL DISEASE 6; IBD6; 607273 FOLLICULIN; FLCN; 607681 EPILEPSY, CHILDHOOD ABSENCE, 2; 609582 MICRO RNA 122A; MIRN122A; 610937 RPGRIP1-LIKE; RPGRIP1L; 611560 JOUBERT SYNDROME 7; JBTS7; 612209 MESOGENIN 1; MSGN1

August 22, 2008
New Entries:: 612126 DYSTONIA 17; DYT17; 612250 G PROTEIN-COUPLED RECEPTOR 161: GPR161; 612251 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10; 612252 C-TYPE LECTIN DOMAIN FAMILY 9, MEMBER A; CLEC9A; Clinical Synopsis for 612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA; Clinical Synopsis for 612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC; Clinical Synopsis for 612233 LEUKODYSTROPHY, HYPOMYELINATING, AUTOSOMAL RECESSIVE
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 120980 INTEGRIN, ALPHA-M; ITGAM; 126453 DOPAMINE RECEPTOR D5; DRD5; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 140050 GRANZYME A; GZMA; 151510 INTEGRIN, ALPHA-X; ITGAX; 153370 INTEGRIN, ALPHA-L; ITGAL; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 191170 TUMOR PROTEIN p53; TP53; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 209900 BARDET-BIEDL SYNDROME; BBS; 209901 BBS1 GENE; BBS1; 218040 COSTELLO SYNDROME; 230900 GAUCHER DISEASE, TYPE II; 261600 PHENYLKETONURIA; 309550 FMR1 GENE; FMR1; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600374 BBS4 GENE; BBS4; 601094 FORKHEAD BOX E3; FOXE3; 601920 JAGGED 1; JAG1; 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1; 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603220 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 3; KCNK3; 603846 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3; NDUFS3; 605339 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2; FXR2; 605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606463 GLUCOSIDASE, BETA, ACID; GBA; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 606829 FRATAXIN; FXN; 607218 INTERFERON REGULATORY FACTOR 5; IRF5; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; Clinical Synopsis for 115150 CARDIOFACIOCUTANEOUS SYNDROME; Clinical Synopsis for 230500 GM1-GANGLIOSIDOSIS, TYPE I; Clinical Synopsis for 600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5

August 21, 2008
New Entries:: 612248 ZINC FINGER PROTEIN 627; ZNF627; 612249 THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 7A; THSD7A
Changed Entries:: 110300 ABO BLOOD GROUP; ABO; 114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA; 114500 COLORECTAL CANCER; CRC; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 164765 CORTACTIN; CTTN; 176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA; 185641 MEDIATOR COMPLEX SUBUNIT 22; MED22; 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 212750 CELIAC DISEASE; CD; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300682 MICRO RNA 424; MIRN424; 300723 SYNAPTOTAGMIN-LIKE 4; SYTL4; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600244 PROGRAMMED CELL DEATH 1; PDCD1; 602735 RETICULOCALBIN 1; RCN1; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 603892 ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 604632 VAC14, S. CEREVISIAE, HOMOLOG OF; VAC14; 606050 UBIQUITIN D; UBD; 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7; 606382 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING,; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607909 ANTIZYME INHIBITOR 1; AZIN1; 608412 GC-RICH PROMOTER-BINDING PROTEIN 1; GPBP1; 609390 FIG4, S. CEREVISIAE, HOMOLOG OF; FIG4; 609414 PHOSPHATIDYLINOSITOL-3-PHOSPHATE 5-KINASE, TYPE III; PIP5K3; 610243 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27; 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33; 611162 MALARIA, SUSCEPTIBILITY TO; 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 611229 CHROMOSOME 2 OPEN READING FRAME 30; C2ORF30; 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9; 611242 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5; 611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2; 611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7; 611534 NUCLEOLAR PROTEIN 8; NOL8; 611537 CATENIN, BETA-LIKE, 1; CTNNBL1; 611538 OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4; 611540 SH3-DOMAIN GRB2-LIKE (ENDOPHILIN)-INTERACTING PROTEIN 1; SGIP1; 611541 SORTING NEXIN 27; SNX27; 611543 CAVITARY OPTIC DISC ANOMALIES; 611545 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 8; CYP4F8; 611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6; 611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN; 611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6; 612123 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 8; PNPLA8; 612125 SERTA DOMAIN-CONTAINING 3; SERTAD3; 612127 17-@BETA-HYDROXYSTEROID DEHYDROGENASE XIII; HSD17B13; 612128 RAS-LIKE, FAMILY 10, MEMBER B; RASL10B; 612129 INDOLEAMINE 2,3-DIOXYGENASE-LIKE 1; INDOL1; 612130 GENE AMPLIFIED IN ESOPHAGEAL CANCER 1; GAEC1; 612131 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 9; DHRS9; 612133 TRANSCRIPTION FACTOR NFE4; NFE4; 612134 GLUCURONIC ACID EPIMERASE; GLCE; 612135 CALCIUM-BINDING TYROSINE PHOSPHORYLATION-REGULATED PROTEIN; CABYR; 612136 ENOYL COENZYME A HYDRATASE DOMAIN-CONTAINING PROTEIN 1; ECHDC1; 612137 RING FINGER PROTEIN 146; RNF146; 612142 MICRO RNA LET7A2; MIRNLET7A2; 612143 MICRO RNA LET7A3; MIRNLET7A3; 612163 TWO-PORE SEGMENT CHANNEL 2; TPCN2; 612165 RETINITIS PIGMENTOSA 29; RP29; 612166 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 2; SLC39A2; 612167 WD REPEAT-CONTAINING PROTEIN 48; WDR48; 612169 Fc FRAGMENT OF IgG, LOW AFFINITY IIc, RECEPTOR FOR; FCGR2C; 612170 MUCIN 19, OLIGOMERIC; MUC19; 612171 REPRIMO; RPRM; 612173 SPERM-ASSOCIATED ANTIGEN 16; SPAG16; 612174 CALCIUM-BINDING PROTEIN 39; CAB39; 612175 CALCIUM-BINDING PROTEIN 39-LIKE PROTEIN; CAB39L; 612176 MYB-LIKE, SWIRM, AND MPN DOMAINS-CONTAINING PROTEIN 1; MYSM1; 612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6; 612229 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3; 612230 COLORECTAL CANCER, SUSCEPTIBILITY TO, 5; CRCS5; 612231 COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6; 612232 COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7; Clinical Synopsis for 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

August 20, 2008
New Entries:: 612233 LEUKODYSTROPHY, HYPOMYELINATING, AUTOSOMAL RECESSIVE; 612237 CHONDROSARCOMA, EXTRASKELETAL MYXOID; 612238 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4; IS4; 612239 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5; IS5
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 164874 FORKHEAD BOX G1; FOXG1; 164970 MOVED TO 191315 AND 191030; 181500 SCHIZOPHRENIA; SCZD; 181800 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1; IS1; 182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1; 184420 FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1; 185620 SURFEIT 1; SURF1; 185640 RIBOSOMAL PROTEIN L7a; RPL7A; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191030 TROPOMYOSIN 3; TPM3; 191311 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 2; DDR2; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 215300 CHONDROSARCOMA; 300035 EPHRIN B1; EFNB1; 312750 RETT SYNDROME; RTT; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600711 ETS VARIANT GENE 4; ETV4; 600739 SHC-LIKE PROTEIN; SHCL1; 601574 TAF15 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 601804 TRANSCRIPTION FACTOR Sp3; SP3; 602498 TRK-FUSED GENE; TFG; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 603314 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 5; SLC27A5; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 604736 UBIQUITIN-SPECIFIC PROTEASE 25; USP25; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A; 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; 611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7; Clinical Synopsis for 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5

August 19, 2008
New Entries:: 612236 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 2; ERGIC2; 612245 INFLAMMATORY BOWEL DISEASE 14; IBD14; 612246 CD302 ANTIGEN; CD302
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 118503 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3; 118505 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5; CHRNA5; 118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4; 120970 CONE-ROD DYSTROPHY 2; CORD2; 123803 ACTIVATING TRANSCRIPTION FACTOR 1; ATF1; 126449 DOPAMINE RECEPTOR D1; DRD1; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 137295 GATA-BINDING PROTEIN 2; GATA2; 170710 PERIPHERIN; PRPH; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 176846 PROTEASOME SUBUNIT, ALPHA-TYPE, 4; PSMA4; 180860 SILVER-RUSSELL SYNDROME; SRS; 181500 SCHIZOPHRENIA; SCZD; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 191092 TSC2 GENE; TSC2; 191160 TUMOR NECROSIS FACTOR; TNF; 211980 LUNG CANCER; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 600288 FORKHEAD BOX A2; FOXA2; 600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2; 600565 NEUREXIN 1; NRXN1; 602432 OPTINEURIN; OPTN; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 604524 LYMPHOCYTE ANTIGEN 75; LY75; 606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607218 INTERFERON REGULATORY FACTOR 5; IRF5; 608232 LEUKEMIA, CHRONIC MYELOID; CML; 610173 MICRO RNA 10A; MIRN10A; 612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2; 612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS; 612236 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 2; ERGIC2; Clinical Synopsis for 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS

August 18, 2008
New Entries:: 300740 X ANTIGEN FAMILY, MEMBER 3; XAGE3; 300741 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER C; FAM120C; 300742 X ANTIGEN FAMILY, MEMBER 1A; XAGE1A; 300743 X ANTIGEN FAMILY, MEMBER 1B; XAGE1B; 300744 X ANTIGEN FAMILY, MEMBER 1C; XAGE1C; 300745 X ANTIGEN FAMILY, MEMBER 1E; XAGE1E; 612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7; 612241 INFLAMMATORY BOWEL DISEASE 12; IBD12; 612243 G PROTEIN-COUPLED RECEPTOR 126; GPR126; 612244 INFLAMMATORY BOWEL DISEASE 13; IBD13
Changed Entries:: 114500 COLORECTAL CANCER; CRC; 142408 MACROPHAGE STIMULATING 1; MST1; 151530 ALANYL AMINOPEPTIDASE; ANPEP; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 176267 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300289 X ANTIGEN FAMILY, MEMBER 1D; XAGE1D; 300416 X ANTIGEN FAMILY, MEMBER 2; XAGE2; 300720 G ANTIGEN 2A; GAGE2A; 300726 G ANTIGEN 2B; GAGE2B; 300727 G ANTIGEN 12C; GAGE12C; 300728 G ANTIGEN 12D; GAGE12D; 300729 G ANTIGEN 12E; GAGE12E; 300730 G ANTIGEN 12F; GAGE12F; 300731 G ANTIGEN 12G; GAGE12G; 300732 G ANTIGEN 12H; GAGE12H; 300733 G ANTIGEN 12J; GAGE12J; 300734 G ANTIGEN 13; GAGE13; 300735 G ANTIGEN 2D; GAGE2D; 300736 G ANTIGEN 2E; GAGE2E; 300737 G ANTIGEN 10; GAGE10; 600976 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF; FAT; 601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1; 603057 DACHSOUS, DROSOPHILA, HOMOLOG OF, 1; DCHS1; 604020 BASSOON, MOUSE, HOMOLOG OF; BSN; 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES; 604734 WD REPEAT-CONTAINING PROTEIN 1; WDR1; 604895 T-BOX 21; TBX21; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1; 606255 STATURE AS A QUANTITATIVE TRAIT; 606441 HTRA SERINE PEPTIDASE 2; HTRA2; 606668 INFLAMMATORY BOWEL DISEASE 8; IBD8; 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3; 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL; 608521 HEPATITIS B VIRUS X PROTEIN-INTERACTING PROTEIN; HBXIP; 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 609742 INTERLEUKIN 4-INDUCED GENE 1; IL4I1; 612206 FOUR-JOINTED BOX, DROSOPHILA, HOMOLOG OF, 1; FJX1; 612207 GOLGI PHOSPHOPROTEIN 3; GOLPH3; 612208 GOLGI PHOSPHOPROTEIN 3-LIKE; GOLPH3L; 612241 INFLAMMATORY BOWEL DISEASE 12; IBD12; Clinical Synopsis for 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1

August 15, 2008
Changed Entries:: 103600 ALBUMIN; ALB; 126452 DOPAMINE RECEPTOR D4; DRD4; 139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE; 158371 MUCIN 3A, INTESTINAL; MUC3A; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP; 191390 INFLAMMATORY BOWEL DISEASE 11; IBD11; 300017 FILAMIN A; FLNA; 601458 INFLAMMATORY BOWEL DISEASE 2; IBD2; 602119 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2; 603356 CD164 ANTIGEN; CD164; 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5; 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4; 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3; 604740 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1; 605225 INFLAMMATORY BOWEL DISEASE 7; IBD7; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 606668 INFLAMMATORY BOWEL DISEASE 8; IBD8; 606674 INFLAMMATORY BOWEL DISEASE 6; IBD6; 606675 INFLAMMATORY BOWEL DISEASE 4; IBD4; 608448 INFLAMMATORY BOWEL DISEASE 9; IBD9; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 610767 AUTOPHAGY 16-LIKE 1; ATG16L1; 611081 INFLAMMATORY BOWEL DISEASE 10; IBD10; 611698 SOLUTE CARRIER FAMILY 22, MEMBER 24; SLC22A24; Clinical Synopsis for 241510 HYPOPHOSPHATASIA, CHILDHOOD

August 14, 2008
Changed Entries:: 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6; 139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE; 147620 INTERLEUKIN 6; IL6; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 153440 LYMPHOTOXIN-ALPHA; LTA; 158340 MUCIN 1, TRANSMEMBRANE; MUC1; 158370 MUCIN 2, INTESTINAL; MUC2; 158371 MUCIN 3A, INTESTINAL; MUC3A; 158373 MUCIN 5, SUBTYPES A AND C, TRACHEOBRONCHIAL; MUC5AC; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A; 191160 TUMOR NECROSIS FACTOR; TNF; 191390 INFLAMMATORY BOWEL DISEASE 11; IBD11; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; 309550 FMR1 GENE; FMR1; 600488 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5; 600770 MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL; MUC5B; 600953 INTERLEUKIN 18; IL18; 601316 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10; 601458 INFLAMMATORY BOWEL DISEASE 2; IBD2; 602325 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 2; EIF4G2; 603251 CYCLIN-DEPENDENT KINASE 9; CDK9; 603550 EYES ABSENT 4; EYA4; 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15; 604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5; 604146 SYNAPTOTAGMIN 7; SYT7; 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3; 604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14; 604591 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 1; PEBP1; 604609 MUCIN 12; MUC12; 605330 INTERLEUKIN 22; IL22; 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2; 605980 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 606674 INFLAMMATORY BOWEL DISEASE 6; IBD6; 607613 NUCLEOPORIN, 133-KD; NUP133; 608424 MUCIN 17; MUC17; 609326 MICRO RNA 1-1; MIRN1-1; 609625 CHROMOSOME 10q26 DELETION SYNDROME; 610360 MUCIN 20, CELL SURFACE-ASSOCIATED; MUC20; 612181 MUCIN 13, CELL SURFACE-ASSOCIATED; MUC13

August 13, 2008
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM; 604258 DELETED IN LIVER CANCER 1; DLC1; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 608813 DER1-LIKE DOMAIN FAMILY, MEMBER 1; DERL1; 609119 THAP DOMAIN-CONTAINING PROTEIN 11; THAP11

August 12, 2008
Changed Entries:: 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 140571 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 1; HSP90AA1; 140572 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS B, MEMBER 1; HSP90AB1; 140573 MOVED TO 140571; 140574 MOVED TO 140571; 140575 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 2; HSP90AA2; 140576 MOVED TO 140571; 147620 INTERLEUKIN 6; IL6; 191175 HEAT-SHOCK PROTEIN, 90-KD, BETA, 1; HSP90B1; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600711 ETS VARIANT GENE 4; ETV4; 605526 ALZHEIMER DISEASE 6; 606219 TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; TRAP1; 612219 EWING SARCOMA; ES; 612234 CALCIUM HOMEOSTASIS MODULATOR 1; CALHM1

August 11, 2008
New Entries:: 612192 ZINC FINGER PROTEIN 57; ZNF57; 612234 CALCIUM HOMEOSTASIS MODULATOR 1; CALHM1; 612235 CALCIUM HOMEOSTASIS MODULATOR 2; CALHM2
Changed Entries:: 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1; 608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E; 612219 EWING SARCOMA; ES

August 8, 2008
New Entries:: 612229 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3; 612230 COLORECTAL CANCER, SUSCEPTIBILITY TO, 5; CRCS5; 612231 COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6; 612232 COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7
Changed Entries:: 601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1; 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7; 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2; 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14; 612229 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3; 612231 COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6

August 7, 2008
New Entries:: 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14
Changed Entries:: 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 167413 PAIRED BOX GENE 4; PAX4; 187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1; 602487 HEAT-RESPONSIVE PROTEIN 12; HRSP12; 605117 SUPPRESSOR OF CYTOKINE SIGNALING 2; SOCS2; 611264 CHROMOSOME 6 OPEN READING FRAME 173; C6ORF173; 611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE; UQCC; 611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL; 612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD; 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14

August 6, 2008
New Entries:: 300720 G ANTIGEN 2A; GAGE2A; 300726 G ANTIGEN 2B; GAGE2B; 300727 G ANTIGEN 12C; GAGE12C; 300728 G ANTIGEN 12D; GAGE12D; 300729 G ANTIGEN 12E; GAGE12E; 300730 G ANTIGEN 12F; GAGE12F; 300731 G ANTIGEN 12G; GAGE12G; 300732 G ANTIGEN 12H; GAGE12H; 300733 G ANTIGEN 12J; GAGE12J; 300734 G ANTIGEN 13; GAGE13; 300735 G ANTIGEN 2D; GAGE2D; 300736 G ANTIGEN 2E; GAGE2E; 300737 G ANTIGEN 10; GAGE10; 300738 P ANTIGEN FAMILY, MEMBER 2; PAGE2; 300739 P ANTIGEN FAMILY, MEMBER 3; PAGE3; 612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IX; MODY9; 612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13; 612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD
Changed Entries:: 123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 137920 RENAL CYSTS AND DIABETES SYNDROME; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 165162 ONCOGENE JUN-D; JUND; 167413 PAIRED BOX GENE 4; PAX4; 300287 P ANTIGEN FAMILY, MEMBER 4; PAGE4; 300288 P ANTIGEN FAMILY, MEMBER 1; PAGE1; 300359 SARCOMA ANTIGEN 1; SAGE1; 300594 G ANTIGEN 1; GAGE1; 300595 G ANTIGEN 2C; GAGE2C; 300596 G ANTIGEN 3; GAGE3; 300597 G ANTIGEN 4; GAGE4; 300598 G ANTIGEN 5; GAGE5; 300599 G ANTIGEN 6; GAGE6; 300637 G ANTIGEN 12I; GAGE12I; 602383 OSTEOGLYCIN; OGN; 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY; 609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, WITH EXOCRINE DYSFUNCTION;; 610358 SIGNAL PEPTIDASE COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; SPCS1; 610831 TBC1 DOMAIN FAMILY, MEMBER 10C; TBC1D10C; 611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL; 612219 EWING SARCOMA; ES; 612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IX; MODY9; 612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD

August 5, 2008
New Entries:: 612219 EWING SARCOMA; ES; 612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12
Changed Entries:: 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 109530 CD48 ANTIGEN; CD48; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 116953 CYCLIN-DEPENDENT KINASE 2; CDK2; 118440 CHOLECYSTOKININ; CCK; 126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3; 126650 SOLUTE CARRIER FAMILY 26, MEMBER 3; SLC26A3; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 137070 FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS; 138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD; 151410 BREAKPOINT CLUSTER REGION; BCR; 155255 MEDULLOBLASTOMA; 164013 NUCLEAR FACTOR RELATED TO KAPPA-B BINDING PROTEIN; NFRKB; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 165080 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG; ERG; 165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;; 169610 PEMPHIGUS VULGARIS, FAMILIAL; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8; 193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1; 220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS; 300289 G ANTIGEN, FAMILY D, 2; GAGED2; 300346 HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600541 ETS VARIANT GENE 1; ETV1; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 601574 TAF15 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603368 CYCLIN-DEPENDENT KINASE 6; CDK6; 604415 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE; STEAP; 604671 JUMPING TRANSLOCATION BREAKPOINT; JTB; 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1; 606178 HEDGEHOG-INTERACTING PROTEIN; HHIP; 607102 WT1 GENE; WT1; 607150 FIFTH EWING SARCOMA VARIANT; FEV; 607623 NPC1 GENE; NPC1; 608510 SH2 DOMAIN-CONTAINING 1B; SH2D1B; 611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9; 612219 EWING SARCOMA; ES; Clinical Synopsis for 253010 MORQUIO SYNDROME B

August 4, 2008
New Entries:: 612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC; 612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10; 612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11
Changed Entries:: 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL; 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; 231100 HEMOCHROMATOSIS, NEONATAL; 603368 CYCLIN-DEPENDENT KINASE 6; CDK6; 603387 MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT; 612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38; 612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10; Clinical Synopsis for 174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD

August 1, 2008
New Entries:: 612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA; 612220 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 3; B4GALNT3; Clinical Synopsis for 612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6
Changed Entries:: 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 158170 MONOSOMY 9p SYNDROME; 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1; 180201 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4A; ARID4A; 300329 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 33; ZBTB33; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 601626 LEUKEMIA, ACUTE MYELOID; AML; 606407 HYPOTONIA-CYSTINURIA SYNDROME; 606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6; 607991 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 3; SLC8A3; 612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA; 612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6

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OMIM Update List for August, 2008

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