OMIM Update List for June, 2007

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Nucleotide

Protein

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OMIM Update List for June, 2007

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June 29, 2007
New Entries:: 300652 ANGIOMA SERPIGINOSUM, X-LINKED; 611109 CINNAMON ODOR, PLEASANTNESS OF; 611150 ATAXIN 10; ATXN10; 611152 ALZHEIMER DISEASE 13; AD13; 611154 ALZHEIMER DISEASE 14; AD14; 611155 ALZHEIMER DISEASE 15; AD15
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT; 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1; 139320 GNAS COMPLEX LOCUS; GNAS; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 185300 STURGE-WEBER SYNDROME; 217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; 217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 312865 SHORT STATURE HOMEOBOX; SHOX; 400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1; 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; 601365 DISHEVELLED 1; DVL1; 601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 603666 SYNTAXIN 16; STX16; 604824 KLOTHO; KL; 605243 LYMPHOCYTE ANTIGEN 96; LY96; 605526 ALZHEIMER DISEASE 6; 605725 PERIAXIN; PRX; 606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1; 607123 PROKINETICIN RECEPTOR 2; PROKR2; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;; 610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10; 610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11; 611150 ATAXIN 10; ATXN10; 611154 ALZHEIMER DISEASE 14; AD14; Clinical Synopsis for 603516 SPINOCEREBELLAR ATAXIA 10; SCA10

June 28, 2007
New Entries:: 611136 EPILEPSY, CHILDHOOD ABSENCE, 4; ECA4; 611148 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 6; SLC30A6; 611149 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 7; SLC30A7; 611151 HPAII TINY FRAGMENTS LOCUS 9C; Clinical Synopsis for 603116 CDAGS SYNDROME
Changed Entries:: 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1; 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; 143100 HUNTINGTON DISEASE; HD; 159900 MYOCLONIC DYSTONIA; 164860 MET PROTOONCOGENE; MET; 165720 OSTEOARTHRITIS; 176640 PRION PROTEIN; PRNP; 190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3; 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; 211980 LUNG CANCER; 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB; 300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B; 314690 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C; 400003 DELETED IN AZOOSPERMIA; DAZ; 400006 RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 426000 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D; 600169 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA; 600287 GLYCYL-tRNA SYNTHETASE; GARS; 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601180 RAN-BINDING PROTEIN 1; RANBP1; 601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1; 602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4; 602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602668 DYSTROPHIA MYOTONICA 2; DM2; 602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 604277 SPG4 GENE; SPG4; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605031 POLO-LIKE KINASE 4; PLK4; 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 608620 HSN2 GENE; HSN2; 608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL; 609321 SAS6, C. ELEGANS, HOMOLOG OF; 609521 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1; 609617 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 2; SLC30A2; 610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1; 610839 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1; 611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6; Clinical Synopsis for 125420 DENTIN DYSPLASIA, TYPE II; Clinical Synopsis for 252600 MUCOLIPIDOSIS IIIA

June 27, 2007
New Entries:: 611142 CYTOSKELETON-ASSOCIATED PROTEIN 5; CKAP5; 611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98; 611144 ABRAXAS BROTHER 1; 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8; 611146 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 10; SLC30A10; Clinical Synopsis for 606407 HYPOTONIA-CYSTINURIA SYNDROME; Clinical Synopsis for 609425 3q29 MICRODELETION SYNDROME; Clinical Synopsis for 609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28; Clinical Synopsis for 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 107270 CD38 ANTIGEN; CD38; 107741 APOLIPOPROTEIN E; APOE; 113705 BREAST CANCER 1 GENE; BRCA1; 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FCAS; 126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2; 160777 MYOSIN VA; MYO5A; 167050 OXYTOCIN; OXT; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 180300 RHEUMATOID ARTHRITIS; RA; 185605 SYNAPTOTAGMIN 1; SYT1; 190010 TRANSFERRIN RECEPTOR; TFRC; 191160 TUMOR NECROSIS FACTOR; TNF; 191900 MUCKLE-WELLS SYNDROME; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A; 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A; 231090 HYDATIDIFORM MOLE; 248600 MAPLE SYRUP URINE DISEASE; 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT; 266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C; 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D; 601336 GLUCOSIDASE I; GCS1; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 602116 YEATS DOMAIN-CONTAINING PROTEIN 4; YEATS4; 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B; 602616 ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE;; 603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C; 603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605007 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 605301 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 1; TACC1; 605303 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 3; TACC3; 605881 SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1; 606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B; 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2; 606407 HYPOTONIA-CYSTINURIA SYNDROME; 606416 NLR FAMILY, PYRIN-DOMAIN CONTAINING 3; NLRP3; 606438 HUNTINGTON DISEASE-LIKE 2; HDL2; 606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1;; 606636 NLR FAMILY, PYRIN-DOMAIN CONTAINING 1; NLRP1; 607115 CINCA SYNDROME; CINCA; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G; 607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I; 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J; 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H; 608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA; 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K; 608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L; 608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E; 609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F; 609364 NLR FAMILY, PYRIN-DOMAIN CONTAINING 2; NLRP2; 609425 3q29 MICRODELETION SYNDROME; 609433 UBIQUITIN INTERACTION MOTIF-CONTAINING PROTEIN 1; UIMC1; 609645 NLR FAMILY, PYRIN-DOMAIN CONTAINING 4; NLRP4; 609648 NLR FAMILY, PYRIN-DOMAIN CONTAINING 12; NLRP12; 609650 NLR FAMILY, PYRIN-DOMAIN CONTAINING 6; NLRP6; 609658 NLR FAMILY, PYRIN-DOMAIN CONTAINING 5; NLRP5; 609659 NLR FAMILY, PYRIN-DOMAIN CONTAINING 8; NLRP8; 609660 NLR FAMILY, PYRIN-DOMAIN CONTAINING 13; NLRP13; 609661 NLR FAMILY, PYRIN-DOMAIN CONTAINING 7; NLRP7; 609662 NLR FAMILY, PYRIN-DOMAIN CONTAINING 10; NLRP10; 609663 NLR FAMILY, PYRIN-DOMAIN CONTAINING 9; NLRP9; 609664 NLR FAMILY, PYRIN-DOMAIN CONTAINING 11; NLRP11; 609665 NLR FAMILY, PYRIN-DOMAIN CONTAINING 14; NLRP14; 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; 610589 RHO GTPase-ACTIVATING PROTEIN 11A; ARHGAP11A; 610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98; Clinical Synopsis for 133200 ERYTHROKERATODERMIA VARIABILIS; EKV; Clinical Synopsis for 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY

June 26, 2007
New Entries:: 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2; 611141 MINDBOMB, DROSOPHILA, HOMOLOG OF, 2; MIB2; Clinical Synopsis for 610448 CHILBLAIN LUPUS
Changed Entries:: 105830 ANGELMAN SYNDROME; AS; 114610 CANNABINOID RECEPTOR 1; CNR1; 139396 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-3; GUCY1A3; 139397 GUANYLATE CYCLASE 1, SOLUBLE, BETA-3; GUCY1B3; 154550 MANNOSEPHOSPHATE ISOMERASE; MPI; 159300 MUSICAL PERFECT PITCH; 174500 POLYDACTYLY, PREAXIAL II; PPD2; 176270 PRADER-WILLI SYNDROME; PWS; 176981 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1; 181500 SCHIZOPHRENIA; SCZD; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 190685 DOWN SYNDROME; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A; 212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; 300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3; 300546 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1; 516002 COMPLEX I, SUBUNIT ND3; MTND3; 600776 FRYNS MICROPHTHALMIA SYNDROME; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601244 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-2; GUCY1A2; 601683 COQ7, S. CEREVISIAE, HOMOLOG OF; COQ7; 601785 PHOSPHOMANNOMUTASE 2; PMM2; 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B; 602667 NBS1 GENE; NBS1; 602912 INTEGRIN, BETA-4, BINDING PROTEIN OF; ITGB4BP; 603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C; 603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F; 604565 ALG5, S. CEREVISIAE, HOMOLOG OF; ALG5; 604566 ALG6, S. CEREVISIAE, HOMOLOG OF; ALG6; 604605 KALIRIN; KALRN; 604824 KLOTHO; KL; 605051 CANNABINOID RECEPTOR 2; CNR2; 605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1; 605634 SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1;; 606941 ALG9, S. CEREVISIAE, HOMOLOG OF; ALG9; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G; 607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I; 607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL; 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J; 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H; 608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2; 608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4; 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K; 608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3; 608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L; 608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E; 608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5; 609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F; 609436 FIBROBLAST GROWTH FACTOR 21; FGF21; 609837 RNA, HBII-52 SMALL NUCLEOLAR; 610448 CHILBLAIN LUPUS; 610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M; 610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; 611135 KLOTHO, BETA; KLB; Clinical Synopsis for 121300 COPROPORPHYRIA; Clinical Synopsis for 133200 ERYTHROKERATODERMIA VARIABILIS; EKV; Clinical Synopsis for 191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO; Clinical Synopsis for 206800 ANONYCHIA CONGENITA; Clinical Synopsis for 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; Clinical Synopsis for 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY; Clinical Synopsis for 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; Clinical Synopsis for 610188 JOUBERT SYNDROME 5; JBTS5; Clinical Synopsis for 610448 CHILBLAIN LUPUS; Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6; Clinical Synopsis for 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII

June 25, 2007
New Entries:: 611135 KLOTHO, BETA; KLB; 611137 PROTEASOME SUBUNIT, BETA-TYPE, 11; 611138 SPERMATID PERINUCLEAR RNA-BINDING PROTEIN; STRBP; Clinical Synopsis for 610188 JOUBERT SYNDROME 5; JBTS5; Clinical Synopsis for 610189 SENIOR-LOKEN SYNDROME 6; SLSN6; Clinical Synopsis for 610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC; Clinical Synopsis for 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
Changed Entries:: 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A; 164874 FORKHEAD BOX G1; FOXG1; 176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10; 177045 PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9; 177046 PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8; 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS; 600306 PROTEASOME SUBUNIT, BETA-TYPE, 5; PSMB5; 600307 PROTEASOME SUBUNIT, BETA-TYPE, 6; PSMB6; 600507 MOVED TO 601177; 600508 NCK ADAPTOR PROTEIN 1; NCK1; 600732 ADP-RIBOSYLATION FACTOR 4-LIKE; ARF4L; 600779 MOVED TO 164874; 601177 ADP-RIBOSYLATION FACTOR 4; ARF4; 601556 ATAXIN 1; ATXN1; 602017 PROTEASOME SUBUNIT, BETA-TYPE, 1; PSMB1; 602175 PROTEASOME SUBUNIT, BETA-TYPE, 2; PSMB2; 602176 PROTEASOME SUBUNIT, BETA-TYPE, 3; PSMB3; 602177 PROTEASOME SUBUNIT, BETA-TYPE, 4; PSMB4; 602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1; 603780 RECQ PROTEIN-LIKE 4; RECQL4; 603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4; 604030 PROTEASOME SUBUNIT, BETA-TYPE, 7; PSMB7; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605524 MOVED TO 164874; 605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1; 609134 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; UBR2; 610188 JOUBERT SYNDROME 5; JBTS5; 610189 SENIOR-LOKEN SYNDROME 6; SLSN6; 610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC; 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11; 610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; 611137 PROTEASOME SUBUNIT, BETA-TYPE, 11; Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; Clinical Synopsis for 602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; Clinical Synopsis for 610189 SENIOR-LOKEN SYNDROME 6; SLSN6

June 22, 2007
New Entries:: 611134 MECKEL SYNDROME, TYPE 4; MKS4
Changed Entries:: 114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A; 121010 PRO-PLATELET BASIC PROTEIN; PPBP; 125505 DEOXYRIBONUCLEASE I; DNASE1; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 142989 HOMEOBOX D13; HOXD13; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP; 173460 PLATELET FACTOR 4; PF4; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 200100 ABETALIPOPROTEINEMIA; ABL; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 203750 ALPHA-METHYLACETOACETIC ACIDURIA; 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP; 232300 GLYCOGEN STORAGE DISEASE II; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 251260 NIJMEGEN BREAKAGE SYNDROME; 261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2; 261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1; 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK; 300331 THROMBOCYTOSIS, FAMILIAL X-LINKED; 601612 LUNG AGENESIS; 601785 PHOSPHOMANNOMUTASE 2; PMM2; 601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7; 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4; 602593 CORNEODESMOSIN; CDSN; 602667 NBS1 GENE; NBS1; 605899 GLYCINE ENCEPHALOPATHY; GCE; 606522 GROWTH/DIFFERENTIATION FACTOR 3; GDF3; 606593 LIG4 SYNDROME; 607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1; 607839 GLYCOGEN BRANCHING ENZYME; GBE1; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG; 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY; 609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU; 610049 CYTOKINE-INDUCED PROTEIN, 29-KD; 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1

June 21, 2007
New Entries:: 611129 CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26; 611130 CHMP FAMILY, MEMBER 7; CHMP7; 611131 RETINITIS PIGMENTOSA 38; 611132 RIBOKINASE; RBKS; 611133 SMALL NUCLEOLAR RNA, C/D BOX, 82; SNORD82
Changed Entries:: 118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1; 119530 OROFACIAL CLEFT 1; OFC1; 136850 FUMARATE HYDRATASE; FH; 164035 NUCLEOLIN; NCL; 176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA; 179835 REPLICATION PROTEIN A1, 70-KD; RPA1; 180466 RIBOSOMAL PROTEIN L19; RPL19; 188450 THYROGLOBULIN; TG; 268000 RETINITIS PIGMENTOSA; RP; 268100 ENHANCED S-CONE SYNDROME; ESCS; 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS; 400022 PROTOCADHERIN 11, Y-LINKED; PCDH11Y; 602667 NBS1 GENE; NBS1; 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4; 603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2; 604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3; 605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; 607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G; 607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I; 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J; 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H; 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K; 608757 CLP1, YEAST, HOMOLOG OF; CLP1; 608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E; 608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E; 609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F; 610361 OROFACIAL CLEFT 9; 610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M; 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4; 611069 RNA, U86 SMALL NUCLEOLAR; 611101 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 5;; 611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL; 611129 CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26; 611131 RETINITIS PIGMENTOSA 38

June 20, 2007
New Entries:: 611122 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28; 611123 EPHRIN RECEPTOR EphA10; EPHA10; 611124 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8; 611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL; 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF; 611127 UBIQUITIN-LIKE 4B; UBL4B; 611128 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2
Changed Entries:: 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 153432 LYMPHOCYTE-SPECIFIC PROTEIN; LSP1; 191160 TUMOR NECROSIS FACTOR; TNF; 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1; 310600 NORRIE DISEASE; ND; 312070 UBIQUITIN-LIKE 4A; UBL4A; 314690 SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR; 602188 EPHRIN RECEPTOR EphA4; EPHA4; 602190 EPHRIN RECEPTOR EphA7; EPHA7; 602294 FORKHEAD BOX A1; FOXA1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603725 FIBROBLAST GROWTH FACTOR 17; FGF17; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3; 605343 FOLLISTATIN-LIKE 3; FSTL3; 605461 INTERLEUKIN 17 RECEPTOR A; IL17RA; 605942 DERMATAN SULFATE EPIMERASE; DSE; 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP; 607138 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 4; CREB3L4; 607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; 607421 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 3; TXNDC3; 607495 MOVED TO 607138; 609110 F-BOX ONLY PROTEIN 43; FBXO43; 609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H; 609631 DEAD/H BOX 58; DDX58; 610388 RAS (RAD AND GEM)-LIKE GTP-BINDING 1; REM1; 610432 RING FINGER PROTEIN 125; RNF125; 610527 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 1; TXNDC1; 610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; 610987 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2C; ASAH2C; 611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9; 611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4; Clinical Synopsis for 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE; Clinical Synopsis for 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; Clinical Synopsis for 609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

June 19, 2007
New Entries:: 611119 KELCH-LIKE 7; KLHL7; 611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3; 611121 CALMIN; CLMN
Changed Entries:: 113503 BRADYKININ RECEPTOR B2; BDKRB2; 120353 MATRIX METALLOPROTEINASE 1; MMP1; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 123690 CRYSTALLIN, GAMMA-D; CRYGD; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 180380 RHODOPSIN; RHO; 184450 STUTTERING, FAMILIAL PERSISTENT 1; STUT1; 305450 OPITZ-KAVEGGIA SYNDROME; OKS; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600337 BRADYKININ RECEPTOR B1; BDKRB1; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601286 CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT; 602061 EPIREGULIN; EREG; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 603725 FIBROBLAST GROWTH FACTOR 17; FGF17; 604670 POLYCYSTIN AND SEA URCHIN REJ HOMOLOG-LIKE; PKDREJ; 605248 MUCOLIPIN 1; MCOLN1; 605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1; 605713 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 2; SPTLC2; 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 609631 DEAD/H BOX 58; DDX58; 610432 RING FINGER PROTEIN 125; RNF125; 611119 KELCH-LIKE 7; KLHL7; 611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3; 611121 CALMIN; CLMN; Clinical Synopsis for 115900 CATARACT, FLORIFORM; Clinical Synopsis for 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

June 18, 2007
New Entries:: 611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1; 611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL
Changed Entries:: 115800 CATARACT, CRYSTALLINE CORALLIFORM; 147141 TRANSCRIPTION FACTOR 3; TCF3; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 153440 LYMPHOTOXIN-ALPHA; LTA; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164343 EARLY B-CELL FACTOR; EBF; 167414 PAIRED BOX GENE 5; PAX5; 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1; 176801 PROSAPOSIN; PSAP; 193670 WHIM SYNDROME; 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; 229300 FRIEDREICH ATAXIA 1; FRDA; 300167 HEPHAESTIN; HEPH; 300377 DYSTROPHIN; DMD; 300451 ECTODYSPLASIN A; EDA; 302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B; 600185 BREAST CANCER 2 GENE; BRCA2; 600526 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 2; MARK2; 600807 ASTHMA, SUSCEPTIBILITY TO; 600978 LYMPHOTOXIN-BETA; LTB; 600979 LYMPHOTOXIN B RECEPTOR; LTBR; 601274 LEUKOTRIENE B4 12-HYDROXYDEHYDROGENASE; LTB4DH; 601974 ENDOTHELIAL DIFFERENTIATION GENE 1; EDG1; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 603023 IKAROS FAMILY ZINC FINGER 1; IKZF1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603209 CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE; CMAH; 603730 SPHINGOSINE KINASE 1; SPHK1; 604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR; 604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3; 604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14; 604837 G PROTEIN-COUPLED RECEPTOR 44; GPR44; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 605349 NUCLEAR PRELAMIN A RECOGNITION FACTOR; NARF; 606080 CHITINASE, ACIDIC; CHIA; 606221 IKAROS FAMILY ZINC FINGER 3; IKZF3; 606234 IKAROS FAMILY ZINC FINGER 2; IKZF2; 606238 IKAROS FAMILY ZINC FINGER 5; IKZF5; 606239 IKAROS FAMILY ZINC FINGER 4; IKZF4; 606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607092 SPHINGOSINE KINASE 2; SPHK2; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607583 PEROXISOME BIOGENESIS FACTOR 11G; PEX11G; 607882 G PROTEIN-COUPLED RECEPTOR 172A; GPR172A; 607883 G PROTEIN-COUPLED RECEPTOR 172B; GPR172B; 608499 ZONA PELLUCIDA-BINDING PROTEIN 2; ZPBP2; 610458 LEUCINE ZIPPER AND CTNNBIP1 DOMAINS-CONTAINING PROTEIN; LZIC; 611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1; 611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL

June 15, 2007
New Entries:: 611112 DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3; 611113 CEMENTUM PROTEIN 1; CEMP1; 611115 VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; VWCE; 611116 MICRO RNA 208; MIRN208
Changed Entries:: 102565 FILAMIN C; FLNC; 104300 ALZHEIMER DISEASE; AD; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 138244 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2; 138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB; 147570 INTERFERON, GAMMA; IFNG; 148069 KERATIN 17; KRT17; 150600 LEGG-CALVE-PERTHES DISEASE; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP; 160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1; 174500 POLYDACTYLY, PREAXIAL II; PPD2; 182290 SMITH-MAGENIS SYNDROME; SMS; 236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300618 PHD FINGER PROTEIN 16; PHF16; 600913 MOVED TO 602055; 600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5; 601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A; 601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1; 601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1; 601943 SPLICING FACTOR, ARGININE/SERINE-RICH, 9; SFRS9; 602055 INSULIN-INDUCED GENE 1; INSIG1; 602617 FORKHEAD BOX E1; FOXE1; 603364 SPLICING FACTOR, ARGININE/SERINE-RICH, 3; SFRS3; 604453 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2; 604791 TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10; 605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1; 605739 KYPHOSCOLIOSIS PEPTIDASE; KY; 605812 DEAD/H BOX 19; DDX19; 605967 ACROPECTORAL SYNDROME; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 608626 STE20-RELATED ADAPTOR PROTEIN; 608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; 609238 RAB GTPase-ACTIVATING PROTEIN 1-LIKE; RABGAP1L; 609615 QUEUINE tRNA-RIBOSYLTRANSFERASE 1; QTRT1; 610337 HEPATITIS B VIRUS-ENCODED X ANTIGEN-UPREGULATED GENE 4; 610515 PHD FINGER PROTEIN 15; PHF15; 610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2; 611116 MICRO RNA 208; MIRN208; Clinical Synopsis for 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1; Clinical Synopsis for 145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE; Clinical Synopsis for 179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1; Clinical Synopsis for 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

June 14, 2007
New Entries:: Clinical Synopsis for 602849 MUENKE SYNDROME; Clinical Synopsis for 606966 NEPHRONOPHTHISIS 4; NPHP4; Clinical Synopsis for 606995 SENIOR-LOKEN SYNDROME 3; SLSN3; Clinical Synopsis for 606996 SENIOR-LOKEN SYNDROME 4; SLSN4; Clinical Synopsis for 609254 SENIOR-LOKEN SYNDROME 5; SLSN5; Clinical Synopsis for 610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; Clinical Synopsis for 610768 DOLICHOL KINASE DEFICIENCY
Changed Entries:: 105830 ANGELMAN SYNDROME; AS; 108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5; 109565 B-CELL LYMPHOMA 6; BCL6; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1; 131320 GATA-BINDING PROTEIN 3; GATA3; 146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; 150330 LAMIN A/C; LMNA; 182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1; 209850 AUTISM; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 309549 MENTAL RETARDATION, X-LINKED 9; MRX9; 600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1; 600687 T-CELL LYMPHOMA INVASION AND METASTASIS 1; TIAM1; 600866 PROGRAMMED CELL DEATH 2; PDCD2; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 602849 MUENKE SYNDROME; 603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 604824 KLOTHO; KL; 605204 TORSIN-A; DYT1; 605268 JUNCTOPHILIN 3; JPH3; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1; 606966 NEPHRONOPHTHISIS 4; NPHP4; 606995 SENIOR-LOKEN SYNDROME 3; SLSN3; 606996 SENIOR-LOKEN SYNDROME 4; SLSN4; 607040 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11; 607361 MECKEL SYNDROME, TYPE 3; MKS3; 608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD; 609254 SENIOR-LOKEN SYNDROME 5; SLSN5; 609883 MKS1 GENE; MKS1; 609884 TRANSMEMBRANE PROTEIN 67; TMEM67; 609949 G PROTEIN-COUPLED RECEPTOR 77; GPR77; 610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; 610768 DOLICHOL KINASE DEFICIENCY; Clinical Synopsis for 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Clinical Synopsis for 248600 MAPLE SYRUP URINE DISEASE; Clinical Synopsis for 256100 NEPHRONOPHTHISIS 1; NPHP1; Clinical Synopsis for 604387 NEPHRONOPHTHISIS 3; NPHP3

June 13, 2007
New Entries:: 611108 VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2; VWC2; 611110 CHROMOSOME 21 OPEN READING FRAME 7; C21ORF7; 611111 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 5; DPPA5; 611114 MICRO RNA 150; MIRN150; Clinical Synopsis for 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Changed Entries:: 101400 SAETHRE-CHOTZEN SYNDROME; SCS; 107730 APOLIPOPROTEIN B; APOB; 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1; 131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 146929 INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA; 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 173350 PLASMINOGEN; PLG; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 190440 TRIGONOCEPHALY, NONSYNDROMIC; 191160 TUMOR NECROSIS FACTOR; TNF; 211350 KYPHOMELIC DYSPLASIA; 214800 CHARGE SYNDROME; 217090 PLASMINOGEN DEFICIENCY, TYPE I; 219700 CYSTIC FIBROSIS; CF; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1; 230750 GASTROSCHISIS; 235200 HEMOCHROMATOSIS; HFE; 248250 HYPOMAGNESEMIA 3, PRIMARY; HOMG3; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600176 PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES; 600812 SPLICING FACTOR, ARGININE/SERINE-RICH, 1; SFRS1; 600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1; 601930 BASONUCLIN 1; BNC1; 601944 SPLICING FACTOR, ARGININE/SERINE-RICH, 6; SFRS6; 603116 CDAGS SYNDROME; 603269 SPLICING FACTOR, ARGININE/SERINE-RICH, 2B; SFRS2B; 605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1; 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP; 606465 KRUPPEL-LIKE FACTOR 15; KLF15; 606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607218 INTERFERON REGULATORY FACTOR 5; IRF5; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 610254 MICRO RNA 133A1; MIRN133A1; 610255 MICRO RNA 133A2; MIRN133A2; 610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1; 611108 VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2; VWC2

June 12, 2007
New Entries:: 611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 12; MRT12; 611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 5; MRT5; 611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6; MRT6; 611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 7; MRT7; 611094 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 8; MRT8; 611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 9; MRT9; 611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 10; MRT10; 611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 11; MRT11; 611106 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12D; ZC3H12D; 611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 4; MRT4; Clinical Synopsis for 300279 MENTAL RETARDATION, X-LINKED, WITH PROGRESSIVE SPASTICITY; Clinical Synopsis for 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Changed Entries:: 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1; 125660 DESMIN; DES; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 164950 FIBROBLAST GROWTH FACTOR 3; FGF3; 164958 NEPHROBLASTOMA OVEREXPRESSED GENE; NOV; 165720 OSTEOARTHRITIS; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 182125 SEPIAPTERIN REDUCTASE; SPR; 187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5; 248250 HYPOMAGNESEMIA, PRIMARY; 249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1; 300279 MENTAL RETARDATION, X-LINKED, WITH PROGRESSIVE SPASTICITY; 300451 ECTODYSPLASIN A; EDA; 305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1; 305200 EHLERS-DANLOS SYNDROME, TYPE V; 600453 TRIPARTITE MOTIF-CONTAINING PROTEIN 25; TRIM25; 600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA; 600572 SPLICING FACTOR, ARGININE/SERINE-RICH, 7; SFRS7; 600813 SPLICING FACTOR, ARGININE/SERINE-RICH, 2; SFRS2; 600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5; 601021 NUCLEOPORIN, 98-KD; NUP98; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; 601686 TELOMERASE-ASSOCIATED PROTEIN 1; TEP1; 601940 SPLICING FACTOR, ARGININE/SERINE-RICH, 4; SFRS4; 601944 SPLICING FACTOR, ARGININE/SERINE-RICH, 6; SFRS6; 602010 SPLICING FACTOR, ARGININE/SERINE-RICH, 11; SFRS11; 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG; 602322 TELOMERASE RNA COMPONENT; TERC; 602377 DYNAMIN 1; DNM1; 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2; 603364 SPLICING FACTOR, ARGININE/SERINE-RICH, 3; SFRS3; 603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20; 603898 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 18; TNFSF18; 603905 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 18; TNFRSF18; 603961 SEMAPHORIN 3A; SEMA3A; 604767 DELETED IN ESOPHAGEAL CANCER 1; DEC1; 604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B; 605361 SPINOCEREBELLAR ATAXIA 14; SCA14; 605705 SNF1-LIKE KINASE; SNF1LK; 608109 PSEUDOURIDINE SYNTHASE 1; PUS1; 608135 ASPORIN; ASPN; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609631 DEAD/H BOX 58; DDX58; 610993 UBIQUITIN-SPECIFIC PROTEASE 44; USP44; 611060 SET-BINDING PROTEIN 1; SETBP1; Clinical Synopsis for 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; Clinical Synopsis for 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED; Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6

June 11, 2007
New Entries:: 300649 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 5; SLC38A5; 300651 PORCUPINE, DROSOPHILA, HOMOLOG OF; PORCN; 611105 LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND; Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6; Clinical Synopsis for 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; Clinical Synopsis for 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII
Changed Entries:: 130160 ELASTIN; ELN; 134797 FIBRILLIN 1; FBN1; 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; 154700 MARFAN SYNDROME; MFS; 158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A; 163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; 165630 MOVED TO 163200; 176450 CURRARINO SYNDROME; 235730 MOWAT-WILSON SYNDROME; 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA; 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 271100 MOVED TO 153400; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1; 604437 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3; 605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2; 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2; 606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; 607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3; 608065 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 4; SLC38A4; 608548 HEMICENTIN; HMCN1; 610688 JOUBERT SYNDROME 6; JBTS6; 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; 610956 ASPARTYL-tRNA SYNTHETASE 2; DARS2; 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4; 611100 PROSTATE CANCER, HEREDITARY, 10; HPC10

June 10, 2007
New Entries:: 611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9; 611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4
Changed Entries:

June 8, 2007
New Entries:: 611067 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 4; DSMA4; 611100 PROSTATE CANCER, HEREDITARY, 10; HPC10; 611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY; Clinical Synopsis for 182125 SEPIAPTERIN REDUCTASE; SPR
Changed Entries:: 114290 CAMPOMELIC DYSPLASIA; 123290 CREATINE KINASE, MITOCHONDRIAL 1B; CKMT1B; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 150330 LAMIN A/C; LMNA; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; 176807 PROSTATE CANCER; 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; 256000 LEIGH SYNDROME; LS; 272120 SUDDEN INFANT DEATH SYNDROME; 300546 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1; 516060 ATP SYNTHASE 6; MTATP6; 600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2; 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5; 600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5; 603489 CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604277 SPG4 GENE; SPG4; 604320 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1; DSMA1; 605091 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 2; FGD2; 605726 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 2; DSMA2; 606440 STEREOCILIN; STRC; 606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5; 607088 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 3; DSMA3; 607249 CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2; Clinical Synopsis for 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; Clinical Synopsis for 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS

June 7, 2007
New Entries:: 611022 DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24; 611098 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 4; STEAP4; 611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6; 611101 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 5;
Changed Entries:: 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1; 167800 PANCREATITIS, HEREDITARY; PCTT; 176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB; 179410 RADIXIN; RDX; 186973 T-CELL TYROSINE KINASE EMT; EMT; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 235200 HEMOCHROMATOSIS; HFE; 300147 PROSTATE CANCER, HEREDITARY, X-LINKED; HPCX; 300579 SHROOM FAMILY MEMBER 4; SHROOM4; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2; 605094 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 2; STEAP2; 605264 SORBIN AND SH3-DOMAINS CONTAINING 1; SORBS1; 605653 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3; FBXL3; 605878 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7; ZBTB7; 607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22; 607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2; 608012 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 2; PDIA2; 608656 PROSTATE CANCER, HEREDITARY, 3; 609319 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6; 609320 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 9; 609326 MICRO RNA 1-1; MIRN1-1

June 6, 2007
New Entries:: 611083 ALCOHOL DEHYDROGENASE, IRON-CONTAINING, 1; ADHFE1; 611084 FORKHEAD BOX D4-LIKE 1; FOXD4L1; 611085 FORKHEAD BOX D4-LIKE 2; FOXD4L2; 611086 FORKHEAD BOX D4-LIKE 3; FOXD4L3; 611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE; 611088 COILED-COIL DOMAIN-CONTAINING PROTEIN 65; CCDC65; 611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 133430 ESTROGEN RECEPTOR 1; ESR1; 135940 FILAGGRIN; FLG; 147880 INTERLEUKIN 6 RECEPTOR; IL6R; 150600 LEGG-CALVE-PERTHES DISEASE; 152430 LONGEVITY; 178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC; 180386 LIM DOMAIN ONLY 3; LMO3; 185620 SURFEIT 1; SURF1; 189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1; 211980 LUNG CANCER; 214900 CHOLESTASIS-LYMPHEDEMA SYNDROME; 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY; 243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 264090 PROGEROID SYNDROME, NEONATAL; 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI; 309550 FMR1 GENE; FMR1; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600568 NEUROLIGIN 1; NLGN1; 600981 PHOSPHOGLUCOMUTASE 5; PGM5; 601092 FORKHEAD BOX D4; FOXD4; 601150 DEAD/H BOX 11; DDX11; 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2; 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8; 602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3; 602544 PARKIN; PARK2; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602727 CHLORIDE CHANNEL 7; CLCN7; 603495 AURORA KINASE C; AURKC; 603521 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A-PRIME; SNRPA1; 605815 NUCLEOPORIN, 62-KD; NUP62; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607623 NPC1 GENE; NPC1; 607849 RETINOL DEHYDROGENASE 11; RDH11; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 608626 STE20-RELATED ADAPTOR PROTEIN; 609471 GLUCOSIDASE, BETA, ACID 2; GBA2; 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2; 611079 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2; 611084 FORKHEAD BOX D4-LIKE 1; FOXD4L1; 611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14

June 5, 2007
New Entries:: 611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF; 611075 DPH5, S. CEREVISIAE, HOMOLOG OF; DPH5; 611076 5-PRIME NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 3; NT5DC3; 611077 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 4; CHCHD4; 611078 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1; 611079 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2; 611080 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 3; CBWD3; 611081 INFLAMMATORY BOWEL DISEASE 10; IBD10; 611082 MIAT GENE; MIAT
Changed Entries:: 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; 133239 ESOPHAGEAL CANCER; 150571 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2; 176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2; 208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 600435 CARDIOTROPHIN 1; CTF1; 600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6; 603456 DPH2, S. CEREVISIAE, HOMOLOG OF; DPH2; 603527 DPH1, S. CEREVISIAE, HOMOLOG OF; DPH1; 605421 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2; 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 606668 INFLAMMATORY BOWEL DISEASE 8; IBD8; 607672 CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1; 608016 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 8; CHCHD8; 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1; 608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D; 608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3; 608959 DPH3, S. CEREVISIAE, HOMOLOG OF; DPH3; 609023 MYOFIBRILLOGENESIS REGULATOR 1; 609435 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 13; NDUFA13; 610767 AUTOPHAGY 16-LIKE 1; ATG16L1; 610814 MOVED TO 601186; 611078 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1; 611082 MIAT GENE; MIAT; Clinical Synopsis for 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; Clinical Synopsis for 610814 MOVED TO 601186

June 4, 2007
New Entries:: 611072 DPH4, S. CEREVISIAE, HOMOLOG OF; DPH4; 611073 ALZHEIMER DISEASE 12
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 152200 APOLIPOPROTEIN(a); LPA; 160900 DYSTROPHIA MYOTONICA 1; 171900 PHOSPHOGLUCOMUTASE 1; PGM1; 182267 SMALL PROLINE-RICH PROTEIN 2A; SPRR2A; 182268 SMALL PROLINE-RICH PROTEIN 2B; SPRR2B; 189907 TRANSCRIPTION FACTOR 2; TCF2; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605526 ALZHEIMER DISEASE 6; 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2; 606013 F-BOX ONLY PROTEIN 5; FBXO5; 606516 MUSCLEBLIND-LIKE PROTEIN 1; MBNL1; 607822 ALZHEIMER DISEASE 3; 611073 ALZHEIMER DISEASE 12

June 1, 2007
Changed Entries:: 107777 AQUAPORIN 2; AQP2; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 143100 HUNTINGTON DISEASE; HD; 180475 RIBOSOMAL PROTEIN L12; RPL12; 181500 SCHIZOPHRENIA; SCZD; 204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 300100 ADRENOLEUKODYSTROPHY; ALD; 300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2; 300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1; 601081 ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2; 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; 601665 OBESITY; 604163 RIBOSOMAL PROTEIN L3; RPL3; 606605 ATR-INTERACTING PROTEIN; 606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 606829 FRATAXIN; FXN; 607042 CLN3 GENE; CLN3; 607820 HOOK, DROSOPHILA, HOMOLOG OF, 1; 608784 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 610448 CHILBLAIN LUPUS; 610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 610814 MOVED TO 601186; 610905 AICARDI-GOUTIERES SYNDROME 5; AGS5; 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO; Clinical Synopsis for 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1

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