OMIM Update List for May, 2005

PubMed

Nucleotide

Protein

Genome

OMIM Update List for May, 2005

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May 31, 2005
New Entries:: 609388 DORA REVERSE STRAND; 609389 INOSITOL POLYPHOSPHATE 5-PHOSPHATASE F; INPP5F; 609390 KIAA0274; 609391 TRANSCRIPTION FACTOR Sp5; SP5; 609392 KRUPPEL-LIKE FACTOR 3; KLF3; 609393 KRUPPEL-LIKE FACTOR 14; KLF14; 609394 SPINDLE POLE BODY COMPONENT 24, S. CEREVISIAE, HOMOLOG OF; SPBC24; 609395 SPINDLE POLE BODY COMPONENT 25, S. CEREVISIAE, HOMOLOG OF; SPBC25; 609396 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE; PHLPP; 609398 ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D
Changed Entries:: 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 138254 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2C;; 142445 NEUREGULIN 1; NRG1; 189906 TRANSCRIPTION FACTOR Sp1; SP1; 232800 GLYCOGEN STORAGE DISEASE VII; 272120 SUDDEN INFANT DEATH SYNDROME; 300453 FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A; 300455 RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 601801 TRANSCRIPTION FACTOR Sp2; SP2; 601877 ENDOMETRIAL BLEEDING-ASSOCIATED FACTOR; EBAF; 601878 KRUPPEL-LIKE FACTOR 10; KLF10; 602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B; 602902 KRUPPEL-LIKE FACTOR 9; KLF9; 602903 KRUPPEL-LIKE FACTOR 5; KLF5; 604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8; 604258 DELETED IN LIVER CANCER 1; DLC1; 604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3; 605194 CRYPTIC PROTEIN; CFC1; 605328 KRUPPEL-LIKE FACTOR 13; KLF13; 606139 KRUPPEL-LIKE FACTOR 16; KLF16; 606158 BSCL2 GENE; BSCL2; 606633 TRANSCRIPTION FACTOR Sp7; SP7; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 607844 LEM DOMAIN-CONTAINING 3; LEMD3; 608010 NPC1-LIKE 1; NPC1L1; 609388 DORA REVERSE STRAND; 609389 INOSITOL POLYPHOSPHATE 5-PHOSPHATASE F; INPP5F

May 27, 2005
New Entries:: 300541 SARCOMA, SYNOVIAL, X BREAKPOINT 6; SSX6; 300542 SARCOMA, SYNOVIAL, X BREAKPOINT 7; SSX7; 300543 SARCOMA, SYNOVIAL, X BREAKPOINT 8; SSX8; 300544 SARCOMA, SYNOVIAL, X BREAKPOINT 9; SSX9; 609383 ICHTHYIN
Changed Entries:: 126420 TOPOISOMERASE, DNA, I; TOP1; 136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB; 139240 GROWTH HORMONE 2; GH2; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 229070 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; 312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1; 600185 BREAST CANCER 2 GENE; BRCA2; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 600864 CASEIN KINASE I, DELTA; CSNK1D; 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601753 PEPTIDYL-PROLYL ISOMERASE D; PPID; 601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1; 602468 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9A; PPP1R9A; 604348 ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL; 604409 GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 1; GMEB1; 605007 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605242 USH1C GENE; USH1C; 606387 TOPOISOMERASE I, MITOCHONDRIAL; TOP1MT; 606708 SPLIT-HAND/FOOT MALFORMATION 5; 607032 PI3-KINASE-RELATED KINASE SMG1; 607451 GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 2; GMEB2; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607606 KERATIN 9; KRT9; 609383 ICHTHYIN; 609387 STRUCTURAL MAINTENANCE OF CHROMOSOMES 6-LIKE 1; SMC6L1

May 26, 2005
New Entries:: 609360 CHROMOSOME 10 OPEN READING FRAME 59; C10ORF59; 609386 STRUCTURAL MAINTENANCE OF CHROMOSOMES 5-LIKE 1; SMC5L1; 609387 STRUCTURAL MAINTENANCE OF CHROMOSOMES 6-LIKE 1; SMC6L1
Changed Entries:: 120353 MATRIX METALLOPROTEINASE 1; MMP1; 142981 HOMEOBOX D4; HOXD4; 145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2; 147880 INTERLEUKIN 6 RECEPTOR; IL6R; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 173510 CD36 ANTIGEN; CD36; 191160 TUMOR NECROSIS FACTOR; TNF; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 243305 INVERSIN; INVS; 300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; WNK3; 305371 GATA-BINDING PROTEIN 1; GATA1; 314050 THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED; 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA; 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 601678 BARTTER SYNDROME, ANTENATAL, TYPE 1; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603538 KYNURENINE 3-MONOOXYGENASE; KMO; 605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 606249 PROTEIN KINASE, LYSINE-DEFICIENT 2; WNK2; 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A; 608155 SYNAPTOPODIN

May 25, 2005
New Entries:: 609385 DEAD END, ZEBRAFISH, HOMOLOG OF, 1; DND1
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 114000 CAFFEY DISEASE; 118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC; 118960 CLATHRIN, LIGHT POLYPEPTIDE A; CLTA; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA; 145500 HYPERTENSION, ESSENTIAL; 147796 JANUS KINASE 2; JAK2; 150330 LAMIN A/C; LMNA; 158000 MONILETHRIX; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1; 263300 POLYCYTHEMIA VERA; 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL; 300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2; 600725 SONIC HEDGEHOG; SHH; 600807 ASTHMA, SUSCEPTIBILITY TO; 601928 KERATIN, HAIR, BASIC, 6; KRTHB6; 602765 KERATIN, HAIR, BASIC, 3; KRTHB3; 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 609385 DEAD END, ZEBRAFISH, HOMOLOG OF, 1; DND1

May 24, 2005
New Entries:: 609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6; 609379 LIPOCALIN 6; LCN6; 609380 LEISHMANOLYSIN-LIKE; LMLN; 609381 SYNTAXIN-BINDING PROTEIN 5-LIKE; STXBP5L; 609382 IMMEDIATE-EARLY RESPONSE 3-INTERACTING PROTEIN 1; IER3IP1
Changed Entries:: 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 116955 ZINC FINGER PROTEIN 9; ZNF9; 120355 MATRIX METALLOPROTEINASE 8; MMP8; 128800 EAR WITHOUT HELIX; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 133430 ESTROGEN RECEPTOR 1; ESR1; 138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 150325 LAMININ, BETA-2; LAMB2; 154870 MATRIX GAMMA-CARBOXYGLUTAMIC ACID; MGP; 166710 OSTEOPOROSIS, INVOLUTIONAL; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 187510 TETRAMELIC MONODACTYLY; 192200 VARICOSE VEINS; 209901 BBS1 GENE; BBS1; 219700 CYSTIC FIBROSIS; CF; 245150 KEUTEL SYNDROME; 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM; 312865 SHORT STATURE HOMEOBOX; SHOX; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE PROTEIN 1; CCL3L1; 601769 VITAMIN D RECEPTOR; VDR; 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1; 602402 FORKHEAD BOX C2; FOXC2; 602668 DYSTROPHIA MYOTONICA 2; DM2; 603921 SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; SUCLA2; 604896 MKKS GENE; MKKS; 605317 FORKHEAD BOX P2; FOXP2; 605738 MICROPTHALMIA, COLOBOMATOUS, 2; MOPCB2; 606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5; 606257 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12; 606829 FRDA GENE; FRDA; 607741 TBC1 DOMAIN FAMILY, MEMBER 3; TBC1D3; 609049 MICROCORIA-CONGENITAL NEPHROSIS SYNDROME; 609169 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDHS

May 20, 2005
Changed Entries:: 164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI; 164950 FIBROBLAST GROWTH FACTOR 3; FGF3; 165196 OPIOID RECEPTOR, KAPPA-1; OPRK1; 171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 1; PIK3R1; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA; 600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2; 600483 FIBROBLAST GROWTH FACTOR 8; FGF8; 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;; 601733 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1; 602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2; 602666 MYOSIN XVA; MYO15A; 603260 BarH-LIKE HOMEOBOX GENE 1; BARX1; 604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3;; 605380 FIBROBLAST GROWTH FACTOR 23; FGF23; 607270 KIAA0442; 607538 NDE1-LIKE 1; NDEL1; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607928 WHIRLIN; WHRN

May 19, 2005
New Entries:: 609356 FMRP-INTERACTING PROTEIN, 82-KD; 609377 ACD, MOUSE, HOMOLOG OF; ACD
Changed Entries:: 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300345 MICROPHTHALMIA, COLOBOMATOUS, 1; MOPCB1; 312750 RETT SYNDROME; RTT; 600165 NANOPHTHALMOS 1; NNO1; 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3; FEOM3; 602380 UROPLAKIN 1B; UPK1B; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603448 DISABLED, DROSOPHILA, HOMOLOG OF, 1; DAB1; 605025 INTEGRIN, ALPHA-3; ITGA3; 605751 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; 606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2; 606478 PROTECTION OF TELOMERES 1; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1

May 18, 2005
New Entries:: 609374 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 5; CDCA5
Changed Entries:: 104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA; 120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1; 133430 ESTROGEN RECEPTOR 1; ESR1; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147796 JANUS KINASE 2; JAK2; 150330 LAMIN A/C; LMNA; 153440 LYMPHOTOXIN-ALPHA; LTA; 158106 CHEMOKINE, CC MOTIF, LIGAND 7; CCL7; 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; 165720 OSTEOARTHRITIS; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 187950 THROMBOCYTHEMIA, ESSENTIAL; 191160 TUMOR NECROSIS FACTOR; TNF; 254450 MYELOFIBROSIS, FAMILIAL; 263300 POLYCYTHEMIA VERA; 276901 USHER SYNDROME, TYPE IIA; USH2A; 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED; 602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2; 604277 SPG4 GENE; SPG4; 605472 USHER SYNDROME, TYPE IIC; USH2C; 606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2; 606829 FRDA GENE; FRDA; 607060 PARKINSON DISEASE 8; PARK8; 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO; 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO; 608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609359 HS1-BINDING PROTEIN 3; HS1BP3

May 17, 2005
New Entries:: 300537 HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT; 609359 HS1-BINDING PROTEIN 2; HS1BP3; 609368 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 2; ARL6IP2; 609369 ATLASTIN 3; 609370 SERINE/THREONINE KINASE 35; STK35; 609371 CHROMOSOME 5 OPEN READING FRAME 5; C5ORF5; 609372 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER C; FAM53C; 609373 JUMONJI DOMAIN-CONTAINING PROTEIN 1B; JMJD1B; 609375 LIN9, C. ELEGANS, HOMOLOG OF; LIN9
Changed Entries:: 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 107730 APOLIPOPROTEIN B; APOB; 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA; 120700 COMPLEMENT COMPONENT 3; C3; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 122470 CORNELIA DE LANGE SYNDROME; CDLS; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 133170 ERYTHROPOIETIN; EPO; 135600 FIBRONECTIN 1; FN1; 138200 GLUTAMATE PYRUVATE TRANSAMINASE; GPT; 138300 GLUTATHIONE REDUCTASE; GSR; 139190 GROWTH HORMONE-RELEASING HORMONE; GHRH; 142950 HOMEOBOX A7; HOXA7; 142956 HOMEOBOX A9; HOXA9; 142957 HOMEOBOX A10; HOXA10; 142958 HOMEOBOX A11; HOXA11; 147640 INTERFERON, BETA-1; IFNB1; 147660 INTERFERON, ALPHA-1; IFNA1; 150100 LACTATE DEHYDROGENASE-B; LDHB; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 160730 MYOSIN, HEAVY CHAIN 1, SKELETAL MUSCLE, ADULT; MYH1; 162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB; 173430 PLATELET-DERIVED GROWTH FACTOR, ALPHA POLYPEPTIDE; PDGFA; 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS; 179613 RECOMBINANT CHROMOSOME 8 SYNDROME; 180300 RHEUMATOID ARTHRITIS; RA; 184755 STEROL CARRIER PROTEIN 2; SCP2; 189911 TRANSFER RNA GLYCINE-GCC-1; TRG1; 190685 DOWN SYNDROME; 191710 CYTIDYLATE KINASE; CMPK; 192975 INTEGRIN, ALPHA-4; ITGA4; 209900 BARDET-BIEDL SYNDROME; BBS; 214380 MOVED TO 606002; 230400 GALACTOSEMIA; 245800 LAURENCE-MOON SYNDROME; 300017 FILAMIN A; FLNA; 300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT; 300401 PROTEOLIPID PROTEIN 1; PLP1; 300519 MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME; 308100 ICHTHYOSIS, X-LINKED; 309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS; 600072 FATAL FAMILIAL INSOMNIA; FFI; 600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3; 600285 EUKARYOTIC TRANSLATION TERMINATION FACTOR 1; ETF1; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1; 601626 LEUKEMIA, ACUTE MYELOID; AML; 601663 ESTROGEN RECEPTOR 2; ESR2; 602126 ZINC FINGER PROTEIN 161, MOUSE, HOMOLOG OF; ZFP161; 602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602667 NBS1 GENE; NBS1; 602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB; 603470 ARGININOSUCCINATE SYNTHETASE; ASS; 603575 NONMETASTATIC CELLS 5, PROTEIN EXPRESSED IN; NME5; 604672 CD209 ANTIGEN; CD209; 605106 ENDOTHELIAL DIFFERENTIATION GENE 7; EDG7; 605469 JUMONJI DOMAIN-CONTAINING PROTEIN 2C; JMJD2C; 605900 PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1; 606002 SPINOCEREBELLAR ATAXIA, RECESSIVE, NON-FRIEDREICH TYPE 1; 606439 SPG3A GENE; SPG3A; 607340 G PROTEIN-COUPLED RECEPTOR 51; GPR51; 607668 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 4; ARL6IP4; 607669 ADP-RIBOSYLATION FACTOR-LIKE 6-INTERACTING PROTEIN; ARL6IP; 608465 SENATAXIN; 608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6; 609326 MICRO RNA 1; 609327 MICRO RNA 124; 609329 URIDINE/CYTIDINE KINASE 2; UCK2; 609347 RECEPTOR EXPRESSION-ENHANCING PROTEIN 2; 609367 KIAA1279 GENE; KIAA1279; 609370 SERINE/THREONINE KINASE 35; STK35; 609372 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER C; FAM53C; 609373 JUMONJI DOMAIN-CONTAINING PROTEIN 1B; JMJD1B; Clinical Synopsis for 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

May 13, 2005
New Entries:: 609364 NACHT-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING 2; NALP2; 609365 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 2; GNL2; 609366 SH2 DOMAIN-BINDING PROTEIN 1; SH2BP1; 609367 KIAA1279
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 120520 MEMBRANE METALLOENDOPEPTIDASE; MME; 142445 NEUREGULIN 1; NRG1; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 161400 NARCOLEPSY 1; NRCLP1; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 182450 SOMATOSTATIN; SST; 600140 CREB-BINDING PROTEIN; CREBBP; 600353 S100 CALCIUM-BINDING PROTEIN A7; S100A7; 602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G; 602358 HYPOCRETIN; HCRT; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 606416 CIAS1 GENE; CIAS1; 606636 NACHT-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING 1; NALP1; 606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD; 606907 APOLIPOPROTEIN M; APOM; 607708 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D; 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8; 609336 ANGIOPOIETIN-LIKE 6; ANGPTL6; 609364 NACHT-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING 2; NALP2; Clinical Synopsis for 174310 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA; Clinical Synopsis for 192950 VERTICAL TALUS, CONGENITAL; CVT; Clinical Synopsis for 214450 GRISCELLI SYNDROME, TYPE 1; GS1; Clinical Synopsis for 609227 GRISCELLI SYNDROME, TYPE 3; GS3

May 12, 2005
New Entries:: 609362 LYSOPHOSPHOLIPASE 3; LYPLA3; 609363 COLLOID CYSTS OF THIRD VENTRICLE; Clinical Synopsis for 300523 MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Clinical Synopsis for 601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G; Clinical Synopsis for 607060 PARKINSON DISEASE 8; PARK8; Clinical Synopsis for 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; Clinical Synopsis for 609227 GRISCELLI SYNDROME, TYPE 3; GS3; Clinical Synopsis for 609306 SPINOCEREBELLAR ATAXIA 26; SCA26; Clinical Synopsis for 609307 SPINOCEREBELLAR ATAXIA 27; SCA27; Clinical Synopsis for 609308 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K; Clinical Synopsis for 609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H; Clinical Synopsis for 609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28
Changed Entries:: 124092 INTERLEUKIN 10; IL10; 126450 DOPAMINE RECEPTOR D2; DRD2; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1; 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 168000 PARAGANGLIOMAS 1; PGL1; 180300 RHEUMATOID ARTHRITIS; RA; 180381 RHODOPSIN KINASE; RHOK; 181031 S-ANTIGEN; SAG; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 257950 MOVED TO 164300; 258100 OGUCHI DISEASE; 300257 GLYCOGEN STORAGE DISEASE IIb; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 600110 STARGARDT DISEASE 3; STGD3; 601653 EYES ABSENT 1; EYA1; 601689 TAF4B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 602117 NECDIN; NDN; 602425 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 4; MAP3K4; 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2; 603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF; 604099 GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2; 604960 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 2; PACSIN2; 605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4; 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2; 606446 SLAM FAMILY, MEMBER 6; SLAMF6; 607754 MAKORIN 1; MKRN1; 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; 608579 TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO; 608896 SARCOGLYCAN, GAMMA; SGCG; 609227 GRISCELLI SYNDROME, TYPE 3; GS3; Clinical Synopsis for 108500 EPISODIC ATAXIA, TYPE 2; EA2; Clinical Synopsis for 121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1; Clinical Synopsis for 123400 CREUTZFELDT-JAKOB DISEASE; CJD; Clinical Synopsis for 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; Clinical Synopsis for 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; Clinical Synopsis for 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; Clinical Synopsis for 181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2; Clinical Synopsis for 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; Clinical Synopsis for 208920 ATAXIA-OCULOMOTOR APRAXIA SYNDROME; Clinical Synopsis for 214450 GRISCELLI SYNDROME, TYPE 1; GS1; Clinical Synopsis for 223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL; Clinical Synopsis for 224690 EAR, PATELLA, SHORT STATURE SYNDROME; Clinical Synopsis for 245200 KRABBE DISEASE; Clinical Synopsis for 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H; Clinical Synopsis for 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; Clinical Synopsis for 257950 MOVED TO 164300; Clinical Synopsis for 268950 MOVED TO 254110; Clinical Synopsis for 277950 WINCHESTER SYNDROME; Clinical Synopsis for 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; Clinical Synopsis for 606072 RIPPLING MUSCLE DISEASE; RMD; Clinical Synopsis for 607624 GRISCELLI SYNDROME, TYPE 2; GS2

May 11, 2005
New Entries:: 609361 PREIMPLANTATION PROTEIN 3, MOUSE, HOMOLOG OF; PREI3
Changed Entries:: 103280 H19 GENE; H19; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 142445 NEUREGULIN 1; NRG1; 145001 HYPERPARATHYROIDISM 2; HRPT2; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 150330 LAMIN A/C; LMNA; 151440 LEUKEMIA, LYMPHOID, 1; LYL1; 156100 MENINGIOMA 1 GENE; MN1; 163260 NUCLEAR FACTOR ERYTHROID 2-LIKE 1; NFE2L1; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 176640 PRION PROTEIN; PRNP; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1; 192340 ARGININE VASOPRESSIN; AVP; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 261000 INTRINSIC FACTOR DEFICIENCY; IFD; 261100 MEGALOBLASTIC ANEMIA 1; MGA1; 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2; 600353 S100 CALCIUM-BINDING PROTEIN A7; S100A7; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 602419 EARLY GROWTH RESPONSE 3; EGR3; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 607174 MENINGIOMA, FAMILIAL; 607393 HRPT2 GENE; HRPT2; 609281 MOB1-LIKE PROTEIN 1B; MOBKL1B; 609342 GASTRIC INTRINSIC FACTOR; GIF; Clinical Synopsis for 602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4

May 10, 2005
New Entries:: 609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28; 609357 MINICHROMOSOME MAINTENANCE 10, S. CEREVISIAE, HOMOLOG OF; MCM10; 609358 ETS VARIANT GENE 2; ETV2
Changed Entries:: 103280 H19 GENE; H19; 109150 MACHADO-JOSEPH DISEASE; MJD; 129400 RAPP-HODGKIN SYNDROME; RHS; 134370 COMPLEMENT FACTOR H; CFH; 139320 GNAS COMPLEX LOCUS; GNAS; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF; 154700 MARFAN SYNDROME; MFS; 164350 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE 1; OAS1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;; 165500 OPTIC ATROPHY 1; OPA1; 168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 180200 RETINOBLASTOMA; RB1; 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 184429 SRY-BOX 2; SOX2; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 221745 MITOCHONDRIAL DEAFNESS MODIFIER GENE 1; MDM1; 251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1; 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H; 268950 MOVED TO 254110; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 276000 PROTEASE, SERINE, 1; PRSS1; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA; 600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY; 601253 CAVEOLIN 3; CAV3; 601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH; 601397 T BRACHYURY, MOUSE, HOMOLOG OF; T; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601884 BONE MINERAL DENSITY VARIATION 1; BMND1; 602238 EXOSOME COMPONENT 2; EXOSC2; 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603489 CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP; 603498 SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1; 604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT; 604804 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3; 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5; 605111 ENDOTHELIAL DIFFERENTIATION GENE 5; EDG5; 605290 OPA1 GENE; OPA1; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3; 605960 EXOSOME COMPONENT 10; EXOSC10; 606019 EXOSONE COMPONENT 8; EXOSC8; 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; 606072 RIPPLING MUSCLE DISEASE; RMD; 606180 EXOSOME COMPONENT 9; EXOSC9; 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP; 606272 CYSTINOSIN; CTNS; 606488 EXOSOME COMPONENT 7; EXOSC7; 606489 EXOSOME COMPONENT 3; EXOSC3; 606490 EXOSOME COMPONENT 6; EXOSC6; 606491 EXOSOME COMPONENT 4; EXOSC4; 606492 EXOSOME COMPONENT 5; EXOSC5; 606493 EXOSOME COMPONENT 1; EXOSC1; 606510 Fc RECEPTOR-LIKE PROTEIN 3; FCRL3; 606580 OPA3 GENE; OPA3; 606799 STROKE, SUSCEPTIBILITY TO, 1; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 607737 FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 1; FGFBP1; 607806 OTOPETRIN 1; 608179 CAYTAXIN; 608201 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2; 608317 TRANSCRIPTION FACTOR CP2-LIKE 4; TFCP2L4; 608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6; 608576 TRANSCRIPTION FACTOR CP2-LIKE 3; TFCP2L3; 609192 LOEYS-DIETZ SYNDROME; LDS; 609279 CENTROMERIC PROTEIN J; CENPJ; 609358 ETS VARIANT GENE 2; ETV2; Clinical Synopsis for 235200 HEMOCHROMATOSIS; HFE

May 6, 2005
New Entries:: 300536 BONE MINERAL DENSITY VARIATION 4; BMND4; 609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA; 609354 BONE MINERAL DENSITY VARIATION 5; BMND5
Changed Entries:: 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 133430 ESTROGEN RECEPTOR 1; ESR1; 148040 KERATIN 5; KRT5; 168600 PARKINSON DISEASE; PD; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 179512 RAS-ASSOCIATED PROTEIN RAB5A; RAB5A; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY; 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2; 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1; 601181 RAN-BINDING PROTEIN 2; RANBP2; 602744 GLYCERONEPHOSPHATE O-ACYLTRANSFERASE; GNPAT; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 605142 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 4; CCT4; 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1; 605833 BONE MINERAL DENSITY VARIATION 2; BMND2; 606352 ALSIN; 606928 BONE MINERAL DENSITY VARIATION 3; BMND3

May 4, 2005
New Entries:: 609345 CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE; 609353 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2; ESCO2; 609355 MICRO RNA 32; MIRN32
Changed Entries:: 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME; 107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1; 111100 FUCOSYLTRANSFERASE 3; FUT3; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD; 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; 147940 ISLET AMYLOID POLYPEPTIDE; IAPP; 148050 KBG SYNDROME; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 164280 FEINGOLD SYNDROME; 164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;; 173850 POLIOVIRUS RECEPTOR; PVR; 176640 PRION PROTEIN; PRNP; 219000 FRASER SYNDROME; 228600 FIBROMATOSIS, JUVENILE HYALINE; 236490 HYALINOSIS, INFANTILE SYSTEMIC; 246300 LEPROSY, SUSCEPTIBILITY TO; 246490 MOVED TO 266265; 268300 ROBERTS SYNDROME; RBS; 269000 SC PHOCOMELIA SYNDROME; 272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION; 300377 DYSTROPHIN; DMD; 400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 600738 SELECTIN P LIGAND; SELPLG; 600744 T-CELL TRANSCRIPTION FACTOR EB; TFEB; 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B; 601465 DEOXYGUANOSINE KINASE; DGUOK; 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2; 603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2; 604494 INTERLEUKIN 18 RECEPTOR 1; IL18R1; 604509 INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP; 604633 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2; 604672 CD209 ANTIGEN; CD209; 605074 RENAL CELL CARCINOMA, PAPILLARY; 605193 RAS HOMOLOG GENE FAMILY, MEMBER I; ARHI; 606001 INTERLEUKIN 32; IL32; 607326 SMITH-MCCORT DYSPLASIA; SMC; 607572 LEPROSY, SUSCEPTIBILITY TO, 2; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607830 FRAS1 GENE; FRAS1; 607924 ALPHA GENE; 608041 ANTHRAX TOXIN RECEPTOR 2; ANTXR2; 608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO; 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2; 609355 MICRO RNA 32; MIRN32; Clinical Synopsis for 164280 FEINGOLD SYNDROME; Clinical Synopsis for 219000 FRASER SYNDROME; Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS

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OMIM Update List for May, 2005

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