OMIM Update List for May, 2008

PubMed

Nucleotide

Protein

Genome

OMIM Update List for May, 2008

Please send your questions to the NCBI Help Desk.

May 30, 2008
New Entries:: 611706 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12; MGR12; 612090 MICRO RNA 200A; MIRN200A; 612091 MICRO RNA 200B; MIRN200B; 612092 MICRO RNA 200C; MIRN200C; 612093 MICRO RNA 141; MIRN141; 612094 MICRO RNA 429; MIRN429; 612095 RETINITIS PIGMENTOSA 41; RP41
Changed Entries:: 120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1; 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 180901 RYANODINE RECEPTOR 1; RYR1; 189909 ZINC FINGER E BOX-BINDING HOMEOBOX 1; ZEB1; 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; 300715 MAGNESIUM TRANSPORTER 1; MAGT1; 600244 PROGRAMMED CELL DEATH 1; PDCD1; 601181 RAN-BINDING PROTEIN 2; RANBP2; 601724 NEUROGENIC DIFFERENTIATION 1; NEUROD1; 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2; 603449 RUVB, E. COLI, HOMOLOG-LIKE 1; RUVBL1; 604365 PROMININ 1; PROM1; 604788 RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2; 605341 PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, ALPHA; PILRA; 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2; 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4; 605995 KINESIN FAMILY MEMBER 1B; KIF1B; 606426 EGL9, C. ELEGANS, HOMOLOG OF, 3; EGLN3; 611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1; 611409 OCA2 GENE; Clinical Synopsis for 136131 FLAVIN-CONTAINING MONOOXYGENASE 4; FMO4; Clinical Synopsis for 162200 NEUROFIBROMATOSIS, TYPE I; NF1; Clinical Synopsis for 256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5; Clinical Synopsis for 267430 RENAL TUBULAR DYSGENESIS; RTD

May 29, 2008
New Entries:: 300715 MAGNESIUM TRANSPORTER 1; MAGT1; 612087 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER A; CLEC2A; 612088 C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER A; CLEC12A; 612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 143100 HUNTINGTON DISEASE; HD; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147557 INTEGRIN, BETA-4; ITGB4; 152430 LONGEVITY; 153440 LYMPHOTOXIN-ALPHA; LTA; 159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A; 189971 E2F TRANSCRIPTION FACTOR 1; E2F1; 191092 TSC2 GENE; TSC2; 193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE; 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH; 245300 KURU, SUSCEPTIBILITY TO; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; 300134 DUAL-SPECIFICITY PHOSPHATASE 9; DUSP9; 300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; 600028 DISTAL-LESS HOMEOBOX 5; DLX5; 600030 DISTAL-LESS HOMEOBOX 6; DLX6; 600119 SARCOGLYCAN, ALPHA; SGCA; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 600870 G PROTEIN-COUPLED RECEPTOR KINASE 5; GPRK5; 601665 OBESITY; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603386 THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA; 603449 RUVB, E. COLI, HOMOLOG-LIKE 1; RUVBL1; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604214 KREV INTERACTION TRAPPED 1; KRIT1; 604788 RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2; 604824 KLOTHO; KL; 605078 TAR DNA-BINDING PROTEIN; TARDBP; 605166 HISTONE DEACETYLASE 3; HDAC3; 605410 POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2;; 606847 TCOF1 GENE; TCOF1; 606870 JUNCTIONAL ADHESION MOLECULE 2; JAM2; 607060 PARKINSON DISEASE 8; PARK8; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607464 THYROID CARCINOMA, HURTHLE CELL; 608537 VHL GENE; VHL; 609072 F-BOX AND WD40 DOMAIN PROTEIN 5; FBXW5; 609435 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 13; NDUFA13; 609862 TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6; 610954 PITT-HOPKINS SYNDROME; PTHS; 612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10; 612086 MINOR HISTOCOMPATIBILITY ANTIGEN, SERPIN DOMAIN-CONTAINING; HMSD

May 28, 2008
New Entries:: 612073 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH; 612075 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH; 612084 ORGANIC SOLUTE TRANSPORTER, ALPHA; 612085 ORGANIC SOLUTE TRANSPORTER, BETA; 612086 MINOR HISTOCOMPATIBILITY ANTIGEN, SERPIN DOMAIN-CONTAINING; HMSD
Changed Entries:: 118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC; 118960 CLATHRIN, LIGHT POLYPEPTIDE A; CLTA; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 131242 ENDOTHELIN 3; EDN3; 131243 ENDOTHELIN RECEPTOR, TYPE A; EDNRA; 139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR; 146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3; 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; 147620 INTERLEUKIN 6; IL6; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 164958 NEPHROBLASTOMA OVEREXPRESSED GENE; NOV; 180200 RETINOBLASTOMA; RB1; 245400 LACTIC ACIDOSIS, FATAL INFANTILE; 300311 TESTIS-EXPRESSED GENE 11; TEX11; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1; 602223 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 1; EIF4EBP1; 602224 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2; EIF4EBP2; 603149 INTERLEUKIN 17A; IL17A; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 603921 SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; SUCLA2; 604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605047 INTERFERON REGULATORY FACTOR 7; IRF7; 605169 E74-LIKE FACTOR 5; ELF5; 605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ; 606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1; 607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE; 608440 LACTAMASE, BETA; LACTB; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 609708 LIPOPROTEIN LIPASE; LPL; 610190 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8; 611931 PROTEIN PHOSPHATASE 1-LIKE; PPM1L; 612084 ORGANIC SOLUTE TRANSPORTER, ALPHA

May 27, 2008
New Entries:: 612081 CHROMOSOME 16 OPEN READING FRAME 77; C16ORF77; 612082 CAPICUA, DROSOPHILA, HOMOLOG OF; CIC
Changed Entries:: 100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND; 130130 ELASTASE 2; ELA2; 138945 GRANULIN; GRN; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 155255 MEDULLOBLASTOMA; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 180200 RETINOBLASTOMA; RB1; 202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1; 235200 HEMOCHROMATOSIS; HFE; 600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4; 600595 INTRAFLAGELLAR TRANSPORT 88, CHLAMYDOMONAS, HOMOLOG OF; IFT88; 601556 ATAXIN 1; ATXN1; 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 606935 RNA-BINDING MOTIF PROTEIN 17; RBM17; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 608204 UNC93, C. ELEGANS, HOMOLOG OF, B1; UNC93B1; 608234 GALACTOSE-3-O-SULFOTRANSFERASE 3; GAL3ST3; 608828 RIBONUCLEASE III, NUCLEAR; RNASEN; 610566 MICRO RNA 146A; MIRN146A; 610782 MICRO RNA 29A; MIRN29A; 610783 MICRO RNA 29B1; MIRN29B1; 611899 MICRO RNA 203; MIRN203

May 23, 2008
New Entries:: 612067 DYSTONIA 16; DYT16; 612077 MICRO RNA 22; MIRN22; 612078 ZINC FINGER PROTEIN 469; ZNF469; 612080 UBIQUINOL-CYTOCHROME c REDUCTASE, COMPLEX III SUBUNIT VII, 9.5-KD;
Changed Entries:: 120353 MATRIX METALLOPROTEINASE 1; MMP1; 123590 CRYSTALLIN, ALPHA-B; CRYAB; 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE; 147557 INTEGRIN, BETA-4; ITGB4; 176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 209900 BARDET-BIEDL SYNDROME; BBS; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300419 MENTAL RETARDATION, X-LINKED 54; MRX54; 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 300624 FRAGILE X MENTAL RETARDATION SYNDROME; 300682 MICRO RNA 424; MIRN424; 601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1; 602533 ONCOGENE DJ1; 603424 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT; 605323 C-TERMINAL DOMAIN OF RNA POLYMERASE II POLYPEPTIDE A, SMALL PHOSPHATASE; 605344 NUCLEAR TRANSCRIPTION FACTOR Y, GAMMA; NFYC; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 606812 FUMARASE DEFICIENCY; 608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL; 608711 CTD SMALL PHOSPHATASE 2; CTDSP2; 608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 609883 MKS1 GENE; MKS1; 609884 TRANSMEMBRANE PROTEIN 67; TMEM67; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3; 611114 MICRO RNA 150; MIRN150; 611172 MICRO RNA 34A; MIRN34A; 612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2; 612077 MICRO RNA 22; MIRN22; Clinical Synopsis for 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; Clinical Synopsis for 270685 SPASTIC PARAPLEGIA 17; SPG17

May 22, 2008
New Entries:: 612076 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2; UAQTL2
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4; 163950 NOONAN SYNDROME 1; NS1; 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 179050 PYRUVATE KINASE, MUSCLE, 2; PKM2; 245400 LACTIC ACIDOSIS, FATAL INFANTILE; 300292 FORKHEAD BOX P3; FOXP3; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 480000 SEX-DETERMINING REGION Y; SRY; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602215 DEFENSIN, BETA, 4; DEFB4; 604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; 604614 T-BOX 19; TBX19; 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1; 606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 606825 TENSIN 3; TNS3; 607212 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9; 608160 SRY-BOX 9; SOX9

May 21, 2008
New Entries:: 611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37; 612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10; 612072 MIF4G DOMAIN-CONTAINING PROTEIN; MIF4GD; 612074 RNA-BINDING MOTIF PROTEIN 28; RBM28
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 107730 APOLIPOPROTEIN B; APOB; 115310 PARAGANGLIOMAS 4; PGL4; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1; 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; 144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B; 148390 KERATOSIS, FAMILIAL ACTINIC; 164035 NUCLEOLIN; NCL; 169400 PELGER-HUET ANOMALY; PHA; 171740 ALKALINE PHOSPHATASE, INTESTINAL; ALPI; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1; 180680 RNA, U1A SMALL NUCLEAR; RNU1A; 180691 RNA, U5A SMALL NUCLEAR; RNU5A; 180692 RNA, U6A SMALL NUCLEAR; RNU6A; 182000 KERATOSIS, SEBORRHEIC; 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 209901 BBS1 GENE; BBS1; 211980 LUNG CANCER; 216900 ACHROMATOPSIA 2; ACHM2; 229200 BRITTLE CORNEA SYNDROME; BCS; 250100 METACHROMATIC LEUKODYSTROPHY; 600374 BBS4 GENE; BBS4; 602083 USHER SYNDROME, TYPE IF; USH1F; 602129 MYOSIN IXB; MYO9B; 603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3; 604141 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARFGEF1; 604614 T-BOX 19; TBX19; 604896 MKKS GENE; MKKS; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 605078 TAR DNA-BINDING PROTEIN; TARDBP; 605514 PROTOCADHERIN 15; PCDH15; 606151 BBS2 GENE; BBS2; 606416 NLR FAMILY, PYRIN-DOMAIN CONTAINING 3; NLRP3; 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11; 607574 ARYLSULFATASE A; ARSA; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 612072 MIF4G DOMAIN-CONTAINING PROTEIN; MIF4GD; 612074 RNA-BINDING MOTIF PROTEIN 28; RBM28

May 20, 2008
New Entries:: 612070 MICRO RNA 144; MIRN144; 612071 MICRO RNA 451; MIRN451
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 113710 TREFOIL FACTOR 1; TFF1; 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7; 120353 MATRIX METALLOPROTEINASE 1; MMP1; 124092 INTERLEUKIN 10; IL10; 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1; 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN; 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL; 144100 HYPERHIDROSIS, GUSTATORY; 147620 INTERLEUKIN 6; IL6; 179611 EPHRIN RECEPTOR EphA3; EPHA3; 179615 RECOMBINATION-ACTIVATING GENE 1; RAG1; 179616 RECOMBINATION-ACTIVATING GENE 2; RAG2; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3; 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB; 233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; 236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 300100 ADRENOLEUKODYSTROPHY; ALD; 300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1; 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE; 600533 VANG-LIKE 2; VANGL2; 600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR; 602188 EPHRIN RECEPTOR EphA4; EPHA4; 602715 LEIOMODIN 1; LMOD1; 603968 POLYMERASE, DNA, ETA; POLH; 604896 MKKS GENE; MKKS; 607109 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3A;; 607750 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3C;; 607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2; 610132 VANG-LIKE 1; VANGL1; 610446 BURULI ULCER, SUSCEPTIBILITY TO; 610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2; 610976 APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3H;; 611778 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1-LIKE; GPD1L; 611957 MICRO RNA 378; MIRN378; 612071 MICRO RNA 451; MIRN451

May 19, 2008
New Entries:: 612065 POLY(ADP-RIBOSE) POLYMERASE 9; PARP9; 612066 POLY(ADP-RIBOSE) POLYMERASE 15; PARP15; 612068 PHOSPHOINOSITIDE-INTERACTING REGULATOR OF TRANSIENT RECEPTOR POTENTIAL
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB; 136533 FORKHEAD BOX O1A; FOXO1A; 137800 GLIOMA OF BRAIN, FAMILIAL; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 191160 TUMOR NECROSIS FACTOR; TNF; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4; 603481 PROTEASOME 26S SUBUNIT, NON-ATPase, 13; PSMD13; 604099 GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2; 604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA; 604365 PROMININ 1; PROM1; 604777 ICHTHYOSIS, LAMELLAR, 3; LI3; 605774 KELCH-LIKE 2; KLHL2; 605958 TRAF-INTERACTING PROTEIN; TRAIP; 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1; 606001 INTERLEUKIN 32; IL32; 606247 ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM; 606441 HTRA SERINE PEPTIDASE 2; HTRA2; 606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1; 606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 607129 NEDD9-INTERACTING PROTEIN WITH CALPONIN HOMOLOGY AND LIM DOMAINS;; 607600 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS; 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL; 608610 PROGRAMMED CELL DEATH 4; PDCD4; 608935 LUNG CANCER SUSCEPTIBILITY 1; LNCR1; 609951 ZINC FINGER PROTEIN 384; ZNF384; 610028 POLY(ADP-RIBOSE) POLYMERASE 14; PARP14; 611932 CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1; 612050 NEDD4 FAMILY-INTERACTING PROTEIN 1; NDFIP1; 612051 BRAIN-EXPRESSED, ASSOCIATED WITH NEDD4; BEAN; 612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2; 612065 POLY(ADP-RIBOSE) POLYMERASE 9; PARP9; Clinical Synopsis for 300323 GOUT, HPRT-RELATED

May 16, 2008
New Entries:: 612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2; 612059 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 1; LARP1; 612060 ZINC FINGER AND RING FINGER PROTEIN 1; ZNRF1; 612061 ZINC FINGER AND RING FINGER PROTEIN 2; ZNRF2; 612062 ZINC FINGER AND RING FINGER PROTEIN 3; ZNRF3; 612063 ZINC FINGER AND RING FINGER PROTEIN 4; ZNRF4; 612064 GRB10-INTERACTING GYF PROTEIN 1; GIGYF1
Changed Entries:: 118503 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3; 118505 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5; CHRNA5; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 145500 HYPERTENSION, ESSENTIAL; 145505 ACYL-CoA SYNTHETASE MEDIUM-CHAIN FAMILY MEMBER 3; ACSM3; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 160900 DYSTROPHIA MYOTONICA 1; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 164910 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG; REL; 164960 ONCOGENE PIM 1; PIM1; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 182205 SEX HORMONE-BINDING GLOBULIN; SHBG; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 211980 LUNG CANCER; 263400 ERYTHROCYTOSIS, FAMILIAL, 2; 600448 PROTEIN KINASE C, THETA; PRKCQ; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1; 601523 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10; 601699 PROSTAGLANDIN I2 SYNTHASE; PTGIS; 603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5; 606832 ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; ERAP1; 608022 DIAPHANOSPONDYLODYSOSTOSIS; 608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4; 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1; 608537 VHL GENE; VHL; 608644 CILIARY DYSKINESIA, PRIMARY, 3; 608935 LUNG CANCER SUSCEPTIBILITY 1; LNCR1; 610465 ACYL-CoA SYNTHETASE FAMILY MEMBER 2; ACSF2; 610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3; 611892 ANEURYSM, INTRACRANIAL BERRY, 6; 611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72; Clinical Synopsis for 607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2

May 15, 2008
New Entries:: 610827 ZINC FINGER PROTEIN 335; ZNF335; 612048 TRANSMEMBRANE PROTEIN 43; TMEM43; 612049 MYC-INDUCED NUCLEAR ANTIGEN; MINA; 612050 NEDD4 FAMILY-INTERACTING PROTEIN 1; NDFIP1; 612051 BRAIN-EXPRESSED, ASSOCIATED WITH NEDD4; BEAN; 612053 ZINC FINGER PROTEIN 36-LIKE 2; ZFP36L2; 612055 RIBOSOMAL PROTEIN S27-LIKE; RPS27L; 612056 CHROMOSOME 7 OPEN READING FRAME 20; C7ORF20; 612057 CHROMOSOME 9 OPEN READING FRAME 140; C9ORF140; 612058 SORTING AND ASSEMBLY MACHINERY COMPONENT 50, S. CEREVISIAE, HOMOLOG
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 176640 PRION PROTEIN; PRNP; 176807 PROSTATE CANCER; 179616 RECOMBINATION-ACTIVATING GENE 2; RAG2; 182310 ATPase, Na+/K+ TRANSPORTING, ALPHA-1 POLYPEPTIDE; ATP1A1; 182330 ATPase, Na+/K+ TRANSPORTING, BETA-1 POLYPEPTIDE; ATP1B1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 300379 RING FINGER PROTEIN 12; RNF12; 601053 PLEXIN B1; PLXNB1; 601064 ZINC FINGER PROTEIN 36-LIKE 1; ZFP36L1; 601530 SEQUESTOSOME 1; SQSTM1; 601814 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2; FXYD2; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 601933 CRYPTOCHROME 1; CRY1; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS; 604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5; 605304 NEUROGLOBIN; NGB; 608061 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 40, YEAST, HOMOLOG OF;; 608935 LUNG CANCER SUSCEPTIBILITY 1; 608964 TATA BOX-BINDING PROTEIN-LIKE PROTEIN 2; TBPL2; 609014 3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2; 609337 MICRO RNA 155; MIRN155; 610827 ZINC FINGER PROTEIN 335; ZNF335; 612048 TRANSMEMBRANE PROTEIN 43; TMEM43; 612058 SORTING AND ASSEMBLY MACHINERY COMPONENT 50, S. CEREVISIAE, HOMOLOG

May 14, 2008
New Entries:: 612045 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 3; C1QTNF3; 612046 E2F TRANSCRIPTION FACTOR 7; E2F7; 612047 E2F TRANSCRIPTION FACTOR 8; E2F8
Changed Entries:: 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1; 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA; 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 187930 COAGULATION FACTOR II RECEPTOR; F2R; 188470 THYROID CARCINOMA, FOLLICULAR; FTC; 190320 TRICHODENTOOSSEOUS SYNDROME; 191170 TUMOR PROTEIN p53; TP53; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD; 206200 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH DEFECT IN IRON METABOLISM; 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; 216550 COHEN SYNDROME; COH1; 300575 RIPPLY1, ZEBRAFISH, HOMOLOG OF; RIPPLY1; 300625 KITA-KYUSHU LUNG CANCER ANTIGEN 1; 300690 BRAIN-EXPRESSED X-LINKED GENE 1; BEX1; 300691 BRAIN-EXPRESSED X-LINKED GENE 2; BEX2; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 601626 LEUKEMIA, ACUTE MYELOID; AML; 601965 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3; 603207 VTI1, S. CEREVISIAE, HOMOLOG OF, B; VTI1B; 604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8; 605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ; 606478 PROTECTION OF TELOMERES 1; POT1; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607265 CLATHRIN INTERACTOR 1; CLINT1; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607817 COH1 GENE; COH1; 608636 AUTISM, SUSCEPTIBILITY TO, 4; AUTS4; 608752 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; C1QTNF5; 608791 NUCLEOREDOXIN-LIKE PROTEIN 1; NXNL1; 609010 3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1; 609213 SEC61 COMPLEX, ALPHA-1 SUBUNIT; SEC61A1; 609377 ACD, MOUSE, HOMOLOG OF; ACD; 610365 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 1; C1QTNF1; 610375 C1q DOMAIN-CONTAINING PROTEIN 1; C1QDC1; 610729 WD REPEAT DOMAIN-CONTAINING PROTEIN 92; WDR92; 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO; 612045 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 3; C1QTNF3

May 13, 2008
New Entries:: 300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9; 612042 RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1; 612043 MICRO RNA 371; MIRN371; 612044 MICRO RNA 372; MIRN372
Changed Entries:: 116806 CATENIN, BETA-1; CTNNB1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 142230 HEMATOPOIETIC PROGENITOR CELL ANTIGEN CD34; CD34; 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 206200 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH DEFECT IN IRON METABOLISM; 271900 CANAVAN DISEASE; 274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1; 274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4; 300255 O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT; 300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9; 600253 ARYL HYDROCARBON RECEPTOR; AHR; 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1; 605832 ACETYL-CoA SYNTHETASE SHORT-CHAIN FAMILY MEMBER 2; ACSS2; 606364 MOVED TO 606658; 606658 SPINOCEREBELLAR ATAXIA 15; SCA15; 607280 CONTACTIN 4; CNTN4; 608034 ASPARTOACYLASE; ASPA; 608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A; 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2; 610883 POTOCKI-LUPSKI SYNDROME; PTLS; 611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4; 611934 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5; 611954 MICRO RNA 373; MIRN373; 612025 IODOTYROSINE DEIODINASE; IYD; 612041 RING FINGER PROTEIN 212; RNF212; Clinical Synopsis for 206200 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH DEFECT IN IRON METABOLISM

May 12, 2008
New Entries:: 612041 RING FINGER PROTEIN 212; RNF212
Changed Entries:: 108300 STICKLER SYNDROME, TYPE I; STL1; 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1; 252500 MUCOLIPIDOSIS II ALPHA/BETA; 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 601653 EYES ABSENT 1; EYA1; 605386 MICRO RNA LET7A1; MIRNLET7A1; 607242 ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-2 SUBUNIT; AP2A2; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 608216 COMM DOMAIN-CONTAINING PROTEIN 5; COMMD5; 609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU; 611043 LIN28, C. ELEGANS, HOMOLOG OF; LIN28; 612031 INHIBIN, BETA E; INHBE

May 9, 2008
New Entries:: 612031 INHIBIN, BETA E; INHBE; 612039 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 7; AGPAT7; 612040 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 2; LPCAT2
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 119300 VAN DER WOUDE SYNDROME; VWS; 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,; 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED; EBS-LOC; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 300672 INFANTILE SPASM SYNDROME, X-LINKED 2; ISSX2; 308350 INFANTILE SPASM SYNDROME, X-LINKED 1; ISSX1; 600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;; 600848 NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2; 601403 DEDICATOR OF CYTOKINESIS 1; DOCK1; 602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB; 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602358 HYPOCRETIN; HCRT; 602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; 602682 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1; BAI1; 604479 SIRTUIN 1; SIRT1; 606420 ENGULFMENT AND CELL MOTILITY GENE 1; ELMO1; 606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1; 608143 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 6; AGPAT6; 608254 PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1; PAXIP1; 610096 T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 4; TIMD4; 610472 ACYLTRANSFERASE-LIKE 2; AYTL2; 612032 DPY30, C. ELEGANS, HOMOLOG OF: DPY30; 612033 CHROMOSOME 16 OPEN READING FRAME 53; C16ORF53

May 8, 2008
New Entries:: 612032 DPY30, C. ELEGANS, HOMOLOG OF: DPY30; 612033 CHROMOSOME 16 OPEN READING FRAME 53; C16ORF53; 612034 APC2 GENE; APC2; 612035 ALANYL-tRNA SYNTHETASE 2; AARS2; 612036 PROLYL-tRNA SYNTHETASE 2; PARS2; 612037 MITOCHONDRIAL UBIQUITIN LIGASE ACTIVATOR OF NFKB 1; MUL1; 612038 TRANSMEMBRANE EMP24 PROTEIN TRANSPORT DOMAIN-CONTAINING PROTEIN 4;
Changed Entries:: 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 126700 BASAL LAMINAR DRUSEN; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 150210 LACTOTRANSFERRIN; LTF; 166710 OSTEOPOROSIS; 176807 PROSTATE CANCER; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 191480 UNCOMBABLE HAIR SYNDROME; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 241800 HYPOTHALAMIC HAMARTOMAS; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 268130 REVESZ SYNDROME; 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 300144 GLUTAMATE DEHYDROGENASE 2; GLUD2; 300231 SOLUTE CARRIER FAMILY 9, ISOFORM A6; SLC9A6; 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; 300254 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1; 300381 ZINC FINGER PROTEIN 185; ZNF185; 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3; 600503 SUB1, S. CEREVISIAE, HOMOLOG OF; SUB1; 600635 NK2 HOMEOBOX 1; NKX2-1; 600697 RETINOBLASTOMA-BINDING PROTEIN 5; RBBP5; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1; 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 605106 ENDOTHELIAL DIFFERENTIATION GENE 7; EDG7; 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2; 606503 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 2; SUV39H2; 606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6; 606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; 607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1; 609067 SCLERAXIS, MOUSE, HOMOLOG OF, A; SCXA; 609299 PROSTATE CANCER, HEREDITARY, 5; 610077 RESPONSE GENE TO COMPLEMENT 32; 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1; 610956 ASPARTYL-tRNA SYNTHETASE 2; DARS2; 610957 TYROSYL-tRNA SYNTHETASE 2; YARS2; 611535 MAJOR AFFECTIVE DISORDER 5; MAFD5; 611536 MAJOR AFFECTIVE DISORDER 6; MAFD6; 611948 KNOBLOCH SYNDROME, TYPE III; 612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8; 612012 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26; 612013 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A

May 7, 2008
New Entries:: 612030 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9
Changed Entries:: 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 126450 DOPAMINE RECEPTOR D2; DRD2; 168890 PARVALBUMIN; PVALB; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 192090 CADHERIN 1; CDH1; 300225 NADPH OXIDASE 1; NOX1; 300713 OTU DOMAIN-CONTAINING PROTEIN 5; OTUD5; 300714 OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600316 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3; 601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3; 602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN,; 602666 MYOSIN XVA; MYO15A; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 603713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 21; ADAM21; 603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2;; 604834 TANK-BINDING KINASE 1; TBK1; 605363 GLUTAMATE DECARBOXYLASE 1; GAD1; 606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; 607002 PROKINETICIN 2; PROK2; 607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1; 607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; MDC1; 609633 MAJOR AFFECTIVE DISORDER 3; MAFD3; 611685 RING FINGER PROTEIN 8; RNF8; 612021 OTU DOMAIN-CONTAINING PROTEIN 6B; OTUD6B; 612022 OTU DOMAIN-CONTAINING PROTEIN 1; OTUD1; 612023 YOD1 OTU DEUBIQUITINATING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; YOD1; 612024 OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A

May 6, 2008
New Entries:: 300705 MENTAL RETARDATION, X-LINKED 17; MRX17; 300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; 300713 OTU DOMAIN-CONTAINING PROTEIN 5; OTUD5; 300714 OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A; 612021 OTU DOMAIN-CONTAINING PROTEIN 6B; OTUD6B; 612022 OTU DOMAIN-CONTAINING PROTEIN 1; OTUD1; 612023 YOD1 OTU DEUBIQUITINATING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; YOD1; 612024 OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A; 612025 IODOTYROSINE DEIODINASE; IYD; 612026 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 7; LARP7; 612027 GRP1-ASSOCIATED SCAFFOLD PROTEIN; GRASP; 612028 FAT-INDUCING TRANSCRIPT 1; 612029 FAT-INDUCING TRANSCRIPT 2
Changed Entries:: 139250 GROWTH HORMONE 1; GH1; 139320 GNAS COMPLEX LOCUS; GNAS; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 267010 MOVED TO 208540; 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; 300256 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10; 300697 HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1; 300714 OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A; 604495 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 604548 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 604896 MKKS GENE; MKKS; 605440 UBIQUILIN 4; UBQLN4; 606515 RNA, 7SK SMALL NUCLEAR; RN7SK; 608002 NEPHROCYSTIN 3; NPHP3; 608047 UBIQUITIN-PROTEIN LIGASE E3B; UBE3B; 608337 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1; OTUB1; 608338 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 2; OTUB2; 610174 UBIQUITIN DOMAIN-CONTAINING PROTEIN 2; UBTD2; 612021 OTU DOMAIN-CONTAINING PROTEIN 6B; OTUD6B; 612022 OTU DOMAIN-CONTAINING PROTEIN 1; OTUD1; Clinical Synopsis for 241500 HYPOPHOSPHATASIA, INFANTILE

May 5, 2008
New Entries:: 300712 CRANIOFACIOSKELETAL SYNDROME; 612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 105830 ANGELMAN SYNDROME; AS; 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1; 128800 EAR WITHOUT HELIX; 218040 COSTELLO SYNDROME; 233100 RENAL GLUCOSURIA; GLYS1; 255980 NASODIGITOACOUSTIC SYNDROME; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 300231 SOLUTE CARRIER FAMILY 9, ISOFORM A6; SLC9A6; 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; 300360 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE; 300712 CRANIOFACIOSKELETAL SYNDROME; 304050 AICARDI SYNDROME; AIC; 308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG; 603197 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6; 605384 INTERLEUKIN 21; IL21; 606517 ARYLHYDROCARBON RECEPTOR REPRESSOR; AHRR; 606520 G6B PROTEIN; 606980 CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1; 608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC; 611910 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; 612019 INTESTINE-SPECIFIC HOMEOBOX; ISX

May 2, 2008
New Entries:: 300711 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4; 612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; 612019 INTESTINE-SPECIFIC HOMEOBOX; ISX
Changed Entries:: 109200 ALOPECIA, ANDROGENETIC, 1; AGA1; 123280 CREATINE KINASE, BRAIN TYPE; CKB; 123290 CREATINE KINASE, MITOCHONDRIAL 1B; CKMT1B; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 147020 IMMUNOGLOBULIN MU; IGHM; 159552 MYELOID CELL LEUKEMIA 1; MCL1; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1; 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I; 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300711 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4; 312000 PANHYPOPITUITARISM, X-LINKED; PHPX; 313430 SRY-BOX 3; SOX3; 313700 ANDROGEN RECEPTOR; AR; 601818 NONMETASTATIC CELLS 4, PROTEIN EXPRESSED IN; NME4; 605383 INTERLEUKIN 21 RECEPTOR; IL21R; 605384 INTERLEUKIN 21; IL21; 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C; 607537 MASTERMIND-LIKE 2; MAML2; 607900 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 1; FERMT1; 610782 MICRO RNA 29A; MIRN29A; 610783 MICRO RNA 29B1; MIRN29B1; 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2; 611910 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3

May 1, 2008
New Entries:: 300710 ALOPECIA, ANDROGENETIC, 2; AGA2; 612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3
Changed Entries:: 103780 ALCOHOL DEPENDENCE; 109200 ALOPECIA, ANDROGENETIC, 1; AGA1; 113705 BREAST CANCER 1 GENE; BRCA1; 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 130160 ELASTIN; ELN; 135630 INTEGRIN, BETA-1; ITGB1; 142957 HOMEOBOX A10; HOXA10; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 155760 AGGRECAN 1; AGC1; 163890 SYNUCLEIN, ALPHA; SNCA; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 188060 THROMBOSPONDIN I; THBS1; 241800 HYPOTHALAMIC HAMARTOMAS; 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15; 309550 FMR1 GENE; FMR1; 313700 ANDROGEN RECEPTOR; AR; 600185 BRCA2 GENE; BRCA2; 600807 ASTHMA, SUSCEPTIBILITY TO; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1; 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6; 602623 FK506-BINDING PROTEIN 5; FKBP5; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 603963 INTEGRIN, ALPHA-9; ITGA9; 604653 SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1; 605980 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1; 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP; 607068 CYTOCHROME b561 DOMAIN-CONTAINING PROTEIN 2; CYB561D2; 607102 WT1 GENE; WT1; 607688 PARKINSON DISEASE 11; PARK11; 607854 BESTROPHIN 1; BEST1; 608135 ASPORIN; ASPN; 610266 TAO KINASE 1; TAOK1; 611416 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3; TOX3; 611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1; 612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2; 612012 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26; 612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3

Disclaimer | Write to the Help Desk | Privacy Policy
NCBI | NLM | NIH

OMIM Update List for May, 2008

May 30, 2008

May 29, 2008

May 28, 2008

May 27, 2008

May 23, 2008

May 22, 2008

May 21, 2008

May 20, 2008

May 19, 2008

May 16, 2008

May 15, 2008

May 14, 2008

May 13, 2008

May 12, 2008

May 9, 2008

May 8, 2008

May 7, 2008

May 6, 2008

May 5, 2008

May 2, 2008

May 1, 2008