OMIM Update List for August, 2005

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Nucleotide

Protein

Genome

OMIM Update List for August, 2005

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August 31, 2005
New Entries:: 609558 PROSTATE CANCER, HEREDITARY, 6; 609561 CARBOXYPEPTIDASE A5; CPA5; 609562 CARBOXYPEPTIDASE A6; CPA6; 609563 CARBOXYPEPTIDASE O; CPO; 609564 POLY(ADP-RIBOSE) POLYMERASE 10; PARP10
Changed Entries:: 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 126800 DUANE RETRACTION SYNDROME 1; DURS1; 133020 ERYTHERMALGIA, PRIMARY; 143095 HUMEROSPINAL DYSOSTOSIS; 143100 HUNTINGTON DISEASE; HD; 158320 MUIR-TORRE SYNDROME; MTS; 176807 PROSTATE CANCER; 200150 CHOREOACANTHOCYTOSIS; CHAC; 217050 COMPLEMENT COMPONENT 6 DEFICIENCY; 245570 LANDAU-KLEFFNER SYNDROME; LKS; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600776 ANOPHTHALMIA-PLUS SYNDROME; 601282 PLECTIN 1; PLEC1; 601465 DEOXYGUANOSINE KINASE; DGUOK; 602440 AMYOTROPHY, MONOMELIC; 602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; 607635 CARBOXYPEPTIDASE A4; CPA4; 608656 PROSTATE CANCER, HEREDITARY, 3; 608658 PROSTATE CANCER, HEREDITARY, 4; 609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; 609299 PROSTATE CANCER, HEREDITARY, 5; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2

August 30, 2005
New Entries:: 609524 FILAMINOPATHY, AUTOSOMAL DOMINANT; 609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN; 609557 PROLYLENDOPEPTIDASE-LIKE; PREPL; 609559 CHROMOSOME 2 OPEN READING FRAME 34; C2ORF34
Changed Entries:: 102565 FILAMIN C; FLNC; 107741 APOLIPOPROTEIN E; APOE; 109150 MACHADO-JOSEPH DISEASE; MJD; 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 117550 SOTOS SYNDROME; 122470 CORNELIA DE LANGE SYNDROME; CDLS; 125660 DESMIN; DES; 133430 ESTROGEN RECEPTOR 1; ESR1; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG; 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1; 160777 MYOSIN VA; MYO5A; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 179520 RAS-RELATED PROTEIN 1A; RAP1A; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 184850 STIFF-PERSON SYNDROME; SPS; 186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES; 190440 TRIGONOCEPHALY, NONSYNDROMIC; 191160 TUMOR NECROSIS FACTOR; TNF; 194080 DENYS-DRASH SYNDROME; 207410 ANTLEY-BIXLER SYNDROME; ABS; 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;; 231670 GLUTARIC ACIDEMIA I; 275600 REMOVED FROM DATABASE; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 535000 LEBER OPTIC ATROPHY; 556500 PARKINSON DISEASE, MITOCHONDRIAL; 600142 CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE; 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601378 CRISPONI SYNDROME; 601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ; 603770 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, BETA ISOFORM; PPM1B; 604202 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29; 605204 TORSIN-A; DYT1; 605284 TSC1 GENE; TSC1; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605808 BIRDSHOT CHORIORETINOPATHY; 606047 IMMUNOGLOBULIN-LIKE TRANSCRIPT 11; 606048 BREAST AND BLADDER CANCER OVEREXPRESSED GENE 1; 606350 APRATAXIN; APTX; 606407 HOMOZYGOUS 2p21 DELETION SYNDROME; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT; 608655 GAP JUNCTION PROTEIN, ALPHA-7; GJA7; 608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J; 608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K; 608754 LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5; 609299 PROSTATE CANCER, HEREDITARY, 3; 609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA; 609557 PROLYLENDOPEPTIDASE-LIKE; PREPL; 609559 CHROMOSOME 2 OPEN READING FRAME 34; C2ORF34; Clinical Synopsis for 194080 DENYS-DRASH SYNDROME; Clinical Synopsis for 220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC; Clinical Synopsis for 275600 REMOVED FROM DATABASE

August 26, 2005
Changed Entries:: 102300 RESTLESS LEGS SYNDROME 1; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B; 221770 PRESENILE DEMENTIA WITH BONE CYSTS; 236792 L-2-HYDROXYGLUTARIC ACIDURIA; 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; 300000 OPITZ SYNDROME; 300161 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3; 300552 MIDLINE 1; MID1; 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 310400 MYOTUBULAR MYOPATHY 1; MTM1; 601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11; 602141 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8; 602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 603848 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6; NDUFS6; 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2; 606904 EPILEPSY, JUVENILE MYOCLONIC; JME; 607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I; 608451 ETHE1 GENE; ETHE1

August 25, 2005
New Entries:: 609552 LMAN2-LIKE PROTEIN; LMAN2L; 609553 RETBINDIN; 609554 INTEGRAL MEMBRANE PROTEIN 2C; ITM2C; 609555 CARBOXYPEPTIDASE X, M14 FAMILY; CPXM; 609556 ATPase, TYPE 13A4; ATP13A4
Changed Entries:: 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 158320 MUIR-TORRE SYNDROME; MTS; 160900 DYSTROPHIA MYOTONICA 1; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2; 177170 PSEUDOACHONDROPLASTIC DYSPLASIA; 179835 REPLICATION PROTEIN A1, 70-KD; RPA1; 217050 COMPLEMENT COMPONENT 6 DEFICIENCY; 256000 LEIGH SYNDROME; LS; 257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL RECESSIVE; 264150 PSEUDOACHONDROPLASTIC DYSPLASIA II; 601567 LECTIN, MANNOSE-BINDING, 1; LMAN1; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603554 OMENN SYNDROME; 604872 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 7; PCSK7; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 609552 LMAN2-LIKE PROTEIN; LMAN2L; 609554 INTEGRAL MEMBRANE PROTEIN 2C; ITM2C; Clinical Synopsis for 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; Clinical Synopsis for 256000 LEIGH SYNDROME; LS

August 24, 2005
New Entries:: 609547 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1; 609548 LMAN1-LIKE PROTEIN; LMAN1L; 609549 NANOPHTHALMOS 2; NNO2; 609550 ZINC FINGER PROTEIN 330; ZNF330; 609551 LECTIN, MANNOSE-BINDING, 2; LMAN2
Changed Entries:: 107777 AQUAPORIN 2; AQP2; 109650 BEHCET SYNDROME; 112310 BOOMERANG DYSPLASIA; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL; 131200 ENDOMETRIOSIS; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 172800 PIEBALD TRAIT; PBT; 174763 POLYMERASE, DNA, GAMMA; POLG; 192340 ARGININE VASOPRESSIN; AVP; 218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE; 251450 DESBUQUOIS SYNDROME; DBQD; 251600 MICROPHTHALMOS, AUTOSOMAL RECESSIVE; 264150 PSEUDOACHONDROPLASTIC DYSPLASIA II; 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES; 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 600165 NANOPHTHALMOS 1; NNO1; 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG; 602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2; 602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; 604256 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2; 606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP; 609547 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1; 609549 NANOPHTHALMOS 2; NNO2

August 24, 2005
New Entries:: 609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1; 609539 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2; 609540 WD REPEAT-CONTAINING PROTEIN 61; WDR61; 609542 ATPase, CLASS I, TYPE 8A, MEMBER 1; ATP8A1; 609543 BEYLA GENE; 609544 CENTROSOMAL PROTEIN, 110-KD; 609545 OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS; 609546 UBIQUITIN-SPECIFIC PROTEASE 29; USP29
Changed Entries:: 112500 BRACHYDACTYLY, TYPE A1; BDA1; 117143 CENTROMERIC PROTEIN E; CENPE; 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 143100 HUNTINGTON DISEASE; HD; 152424 LOCUS CONTROL REGION, BETA; 152430 LONGEVITY; 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1; 176797 ZINC FINGER PROTEIN 145; ZNF145; 180250 RETINOL-BINDING PROTEIN 4; RBP4; 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1; 223100 HYPOLACTASIA, ADULT TYPE; 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; 238300 GLYCINE DECARBOXYLASE; GLDC; 264700 VITAMIN D-DEPENDENT RICKETS, TYPE I; 277420 MOVED TO 277440; 277440 VITAMIN D-DEPENDENT RICKETS, TYPE II; 300052 DYSTROPHIN-RELATED PROTEIN 2; DRP2; 300074 X CHROMOSOME-CONTROLLING ELEMENT; 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 400013 BASIC PROTEIN ON Y CHROMOSOME, 2; BPY2; 600081 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE; 600272 COILIN; COIL; 600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601509 GAMMA-GLUTAMYL HYDROLASE; GGH; 601556 ATAXIN 1; ATXN1; 601665 OBESITY; 601667 ANGIOPOIETIN 1; ANGPT1; 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12; 601769 VITAMIN D RECEPTOR; VDR; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 601922 ANGIOPOIETIN 2; ANGPT2; 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG; 602407 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2; 602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603202 LACTASE; LCT; 603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1; 603705 ANGIOPOIETIN 4; ANGPT4; 604796 TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1; 605061 TERF2-INTERACTING PROTEIN; TERF2IP; 605725 PERIAXIN; PRX; 605899 GLYCINE ENCEPHALOPATHY; GCE; 606157 PANTOTHENATE KINASE 2; PANK2; 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1; 606543 HISTONE DEACETYLASE 9; HDAC9; 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS; 607573 BPY2-INTERACTING PROTEIN 1; BPY2IP1; 607645 D4S234E GENE; D4S234E; 608713 CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1; 608885 CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES,; 609023 MYOFIBRILLOGENESIS REGULATOR 1; 609192 LOEYS-DIETZ SYNDROME; LDS; 609326 MICRO RNA 1; 609511 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20; 609543 BEYLA GENE

August 19, 2005
New Entries:: 609538 PROTEIN-TYROSINE PHOSPHATASE, MITOCHONDRIAL, 1; PTPMT1
Changed Entries:: 104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT; 104300 ALZHEIMER DISEASE; AD; 116806 CATENIN, BETA-1; CTNNB1; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 120090 COLLAGEN, TYPE IV, ALPHA-2; COL4A2; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 133020 ERYTHERMALGIA, PRIMARY; 148900 KLIPPEL-FEIL SYNDROME; 161200 NAIL-PATELLA SYNDROME; NPS; 175780 PORENCEPHALY, FAMILIAL; 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ; 180200 RETINOBLASTOMA; RB1; 184400 SPRENGEL DEFORMITY; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 200150 CHOREOACANTHOCYTOSIS; CHAC; 207950 ARNOLD-CHIARI MALFORMATION; 245570 LANDAU-KLEFFNER SYNDROME; LKS; 301050 ALPORT SYNDROME, X-LINKED; ATS; 602440 AMYOTROPHY, MONOMELIC; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A; 608434 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 1; GIT1; 609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE

August 18, 2005
New Entries:: 300551 MENTAL RETARDATION, X-LINKED 78; MRX78; 609536 COMPLEMENT COMPONENT 5 DEFICIENCY; 609537 LIPOMYELOMENINGOCELE
Changed Entries:: 120353 MATRIX METALLOPROTEINASE 1; MMP1; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 120900 COMPLEMENT COMPONENT 5; C5; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6; 155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1; 176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC; 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1; 217300 CORNEA PLANA 2; CNA2; 232200 GLYCOGEN STORAGE DISEASE I; 300130 INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2; 300401 PROTEOLIPID PROTEIN 1; PLP1; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600349 INHIBITOR OF DNA BINDING 1; ID1; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602061 EPIREGULIN; EREG; 602689 FASCIN, SEA URCHIN, HOMOLOG OF, 1; FSCN1; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4; 608902 DRUG METABOLISM, POOR, CYP2D6-RELATED; Clinical Synopsis for 200150 CHOREOACANTHOCYTOSIS; CHAC; Clinical Synopsis for 602440 AMYOTROPHY, MONOMELIC

August 17, 2005
New Entries:: 609535 DRUG METABOLISM, POOR, CYP2C19-RELATED
Changed Entries:: 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1; 600725 SONIC HEDGEHOG; SHH; 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A; 609535 DRUG METABOLISM, POOR, CYP2C19-RELATED; Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2

August 16, 2005
Changed Entries:: 139320 GNAS COMPLEX LOCUS; GNAS; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 174763 POLYMERASE, DNA, GAMMA; POLG; 181500 SCHIZOPHRENIA; SCZD; 185880 VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1; 186590 SYNTAXIN 1A; STX1A; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 600725 SONIC HEDGEHOG; SHH; 602322 TELOMERASE RNA COMPONENT; TERC; 602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4; 603743 APOLIPOPROTEIN L-I; APOL1; Clinical Synopsis for 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; Clinical Synopsis for 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI; Clinical Synopsis for 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3; Clinical Synopsis for 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS

August 15, 2005
New Entries:: 609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23; 609534 CHROMOSOME 17 OPEN READING FRAME 41; C17ORF41
Changed Entries:: 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT; 186975 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1; TCTE1; 186977 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 3; TCTE3; 271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE; 601554 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE 1; TCTEL1; 601884 BONE MINERAL DENSITY VARIATION 1; BMND1; 601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2; 602533 ONCOGENE DJ1; 602691 NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1; 603186 DEATH-ASSOCIATED PROTEIN 6; DAXX; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 605514 PROTOCADHERIN 15; PCDH15; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS

August 12, 2005
New Entries:: 609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4; 115198 MOVED TO 192600 AND 115197; 123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB; 146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 170280 PERFORIN 1; PRF1; 180902 RYANODINE RECEPTOR 2; RYR2; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 604202 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29; 604311 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP; 605121 RRN3, S. CEREVISIAE, HOMOLOG OF; RRN3; 608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO

August 11, 2005
New Entries:: 609525 TENSION-INDUCED/INHIBITED PROTEIN; Clinical Synopsis for 607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2
Changed Entries:: 109750 BILIVERDIN REDUCTASE A; BLVRA; 139320 GNAS COMPLEX LOCUS; GNAS; 140581 HEAT-SHOCK TRANSCRIPTION FACTOR 2; HSF2; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX; 600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE; 600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2; 602458 SORTILIN; SORT1; 602563 NK6, DROSOPHILA, HOMOLOG OF, 1; NKX6-1; 603924 HYALURONAN-BINDING PROTEIN 2; HABP2; 604323 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 3; ABCC3; 604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7; 605955 NK6, DROSOPHILA, HOMOLOG OF, 2; NKX6-2; 607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2; 609525 TENSION-INDUCED/INHIBITED PROTEIN; Clinical Synopsis for 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI; Clinical Synopsis for 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; Clinical Synopsis for 191520 UPINGTON DISEASE; Clinical Synopsis for 202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1; Clinical Synopsis for 234580 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS

August 10, 2005
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2; 103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH3; 103780 ALCOHOLISM; 118910 CHROMOGRANIN A; CHGA; 134920 FIBROBLAST GROWTH FACTOR 2; FGF2; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 147680 INTERLEUKIN 2; IL2; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA; 300401 PROTEOLIPID PROTEIN 1; PLP1; 600726 INDIAN HEDGEHOG; IHH; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603718 CLAUDIN 1; CLDN1; 604580 FIBULIN 5; FBLN5; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12; 608548 HEMICENTIN; HMCN1; 608731 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6

August 9, 2005
New Entries:: 300552 MIDLINE 1; MID1; 609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2; 609527 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; RAPGEF5; 609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2; 609530 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RAPGEF2; 609531 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 3; RASGRP3
Changed Entries:: 133540 COCKAYNE SYNDROME, TYPE B; CSB; 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 216400 COCKAYNE SYNDROME, TYPE A; CSA; 240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID; 270200 SJOGREN-LARSSON SYNDROME; SLS; 300000 OPITZ SYNDROME; 300204 MIDLINE 2; 300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,; 309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS; 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2; 601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F; 601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL; 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3; 604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B; 606057 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3; 606382 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING,; 606995 SENIOR-LOKEN SYNDROME 3; SLSN3; 607320 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 4; RASGRP4; 608810 ALPHA-B CRYSTALLINOPATHY; 609200 MYOTILINOPATHY; 609317 TRIPARTITE MOTIF-CONTAINING PROTEIN 36; TRIM36; 609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8; 609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2; 609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2; Clinical Synopsis for 194070 WILMS TUMOR 1; WT1

August 8, 2005
New Entries:: 609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET; 609515 IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES; 609522 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3B; TCEB3B
Changed Entries:: 207800 ARGININEMIA; 300257 DANON DISEASE; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 309660 MOVED TO 300257; 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX; 600786 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3; TCEB3; 600787 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 2; TCEB2; 600788 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 1; TCEB1; 601529 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1; NR2C1; 602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7; 603125 TYROSYLPROTEIN SULFOTRANSFERASE 1; TPST1; 603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24; 603758 GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1; 603853 PAN-HEMATOPOIETIC EXPRESSION GENE; PHEMX; 605566 RETICULON 4 RECEPTOR; RTN4R; 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2; 608313 ARGINASE, LIVER; ARG1; 609522 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3B; TCEB3B

August 5, 2005
New Entries:: 609517 TGFB1-INDUCED ANTIAPOPTOTIC FACTOR 1; TIAF1; 609518 THAP DOMAIN-CONTAINING PROTEIN 7; THAP7; 609519 TCF3 FUSION PARTNER; TFPT; 609520 THAP DOMAIN-CONTAINING PROTEIN 1; THAP1; 609521 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1
Changed Entries:: 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; 107777 AQUAPORIN 2; AQP2; 109730 BICUSPID AORTIC VALVE; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D; 120000 COARCTATION OF AORTA; 122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES; 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL; 129400 RAPP-HODGKIN SYNDROME; RHS; 137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2; 142984 HOMEOBOX D10; HOXD10; 142986 HOMEOBOX D11; HOXD11; 147141 TRANSCRIPTION FACTOR 3; TCF3; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 191170 TUMOR PROTEIN p53; TP53; 222000 MOVED TO 125800; 241550 HYPOPLASTIC LEFT HEART SYNDROME; 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1; 308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG; 601005 TIMOTHY SYNDROME; TS; 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2; 601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 601936 PRKC, APOPTOSIS, WT1, REGULATOR; PAWR; 601991 NEUROONCOLOGIC VENTRAL ANTIGEN 2; NOVA2; 602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4; 602098 POLO-LIKE KINASE 1; PLK1; 602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602768 DELTA-LIKE 3; DLL3; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 604648 T-BOX 10; TBX10; 604889 NEUROBEACHIN; NBEA; 605031 POLO-LIKE KINASE 4; PLK4; 606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1; 607023 POLO-LIKE KINASE 2; PLK2; 607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608977 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 19; DNAJC19

August 4, 2005
New Entries:: 609514 TAUBE NUSS, MOUSE, HOMOLOG OF; TBN; 609516 ZINC FINGER PROTEIN 382; ZNF382
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 113705 BREAST CANCER 1 GENE; BRCA1; 116880 CATHEPSIN L; CTSL; 118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2; 123811 ACTIVATING TRANSCRIPTION FACTOR 2; ATF2; 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF; 173325 JUNCTION PLAKOGLOBIN; JUP; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 192090 CADHERIN 1; CDH1; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15; 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1; ARAF1; 600014 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 600167 HISTAMINE RECEPTOR H1; HRH1; 600527 EPHRIN B2; EFNB2; 600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1; 601047 CAVEOLIN 1; CAV1; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 603310 PHOSPHODIESTERASE 5A; PDE5A; 603497 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3; 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13; 604475 RETICULON 4; RTN4; 604984 SERINE/THREONINE PROTEIN KINASE 24; STK24; 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1; 606820 GLUTAREDOXIN 2; GLRX2; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 608010 NPC1-LIKE 1; NPC1L1; 609487 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 2; MAP3K2

August 3, 2005
New Entries:: 300538 ARGININE VASOPRESSIN RECEPTOR 2; AVPR2; 300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD; 609512 CHROMATIN-MODIFYING PROTEIN 2B; CHMP2B; 609513 NEUROPEPTIDE S
Changed Entries:: 102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1; 102981 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1; 114550 HEPATOCELLULAR CARCINOMA; 114610 CANNABINOID RECEPTOR 1; CNR1; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 134371 COMPLEMENT FACTOR H-RELATED 1; CFHL1; 139250 GROWTH HORMONE 1; GH1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1; 146800 ICHTHYOSIS, BULLOUS TYPE; 147670 INSULIN RECEPTOR; INSR; 147680 INTERLEUKIN 2; IL2; 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA; 148080 KERATIN 10; KRT10; 150310 LAMININ, BETA-3; LAMB3; 159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1; 159990 MYOGENIC FACTOR 5; MYF5; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 166710 OSTEOPOROSIS, INVOLUTIONAL; 176640 PRION PROTEIN; PRNP; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 191170 TUMOR PROTEIN p53; TP53; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY; 219080 CUSHING DISEASE, ADRENAL; 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; 261600 PHENYLKETONURIA; 271980 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1; 300013 N-ACETYLTRANSFERASE ARD1, S. CEREVISIAE, HOMOLOG OF; DXS707; 300019 HOST CELL FACTOR C1; HCFC1; 300023 GTPase-ACTIVATING PROTEIN, RHO, 4; ARHGAP4; 300029 RETINITIS PIGMENTOSA 15; RP15; 300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5; 300392 WAS GENE; WAS; 300417 G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN; 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB; 300490 SH2 DOMAIN PROTEIN 1A; SH2D1A; 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA; 312420 RENIN-BINDING PROTEIN; RENBP; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600052 ANGIOTENSIN RECEPTOR-LIKE 1; AGTRL1; 600112 DYNEIN, CYTOPLASMIC, HEAVY CHAIN 1; DNCH1; 600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B; 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3; 600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1; 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3; 600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A; 600889 COMPLEMENT FACTOR H-RELATED 2; CFHL2; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 601090 FORKHEAD BOX C1; FOXC1; 601253 CAVEOLIN 3; CAV3; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1; 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA; 602153 KERATIN, HAIR, BASIC, 1; KRTHB1; 602809 KINESIN FAMILY MEMBER 5B; KIF5B; 603068 DUAL-SPECIFICITY PHOSPHATASE 2; DUSP2; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4; 603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF; 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1; 605336 COMPLEMENT FACTOR H-RELATED 3; CFHL3; 605337 COMPLEMENT FACTOR H-RELATED 4; CFHL4; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 606702 PKHD1 GENE; PKHD1; 607102 WILMS TUMOR 1 GENE; WT1; 607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608002 NEPHROCYSTIN 3; NPHP3; 608464 VG5Q GENE; 608593 COMPLEMENT FACTOR H-RELATED 5; CFHL5; 608595 G PROTEIN-COUPLED RECEPTOR 154; GPR154; 609019 BIOTINIDASE; BTD; 609485 MODULATOR OF APOPTOSIS 1; MOAP1; 609511 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20

August 2, 2005
New Entries:: 609511 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20
Changed Entries:: 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 116880 CATHEPSIN L; CTSL; 116947 CELL DIVISION CYCLE 25A; CDC25A; 118485 CYTOCHROME P450, SUBFAMILY XIA; CYP11A; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1; 137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG; 138297 GLUTAMYL AMINOPEPTIDASE; ENPEP; 155550 SILVER, MOUSE, HOMOLOG OF; SILV; 231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A; 270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS; 308220 IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE; 308400 REMOVED FROM DATABASE; 510000 REMOVED FROM DATABASE; 590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH; 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1; 604271 SHORT STATURE; SS; 605888 EH DOMAIN-CONTAINING 1; EHD1; 606165 BOL-LIKE; BOLL; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608593 COMPLEMENT FACTOR H-RELATED 5; CFHL5; 608863 PODOPLANIN; PDPN; 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 609510 INTERLEUKIN 31 RECEPTOR A; IL31RA; Clinical Synopsis for 510000 REMOVED FROM DATABASE

August 1, 2005
New Entries:: 609510 INTERLEUKIN 31 RECEPTOR A; IL31RA
Changed Entries:: 103180 ADP-RIBOSYLATION FACTOR 1; ARF1; 106100 ANGIOEDEMA, HEREDITARY; HAE; 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD; 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 133430 ESTROGEN RECEPTOR 1; ESR1; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; 168820 PARAOXONASE 1; PON1; 180901 RYANODINE RECEPTOR 1; RYR1; 188450 THYROGLOBULIN; TG; 232400 GLYCOGEN STORAGE DISEASE III; 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET; 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; 261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL; 300377 DYSTROPHIN; DMD; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM; 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE; 601663 ESTROGEN RECEPTOR 2; ESR2; 601743 ONCOSTATIN M RECEPTOR; OSMR; 601924 COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA; 602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2; 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS; 607637 EMX2 OPPOSITE STRAND; EMX2OS; 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; 609509 INTERLEUKIN 31; IL31; Mini-MIM for 106100 ANGIOEDEMA, HEREDITARY; HAE; Mini-MIM for 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD; Mini-MIM for 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; Mini-MIM for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; Clinical Synopsis for 232300 GLYCOGEN STORAGE DISEASE II; Clinical Synopsis for 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; Clinical Synopsis for 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C

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OMIM Update List for August, 2005

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