OMIM Update List for April, 2004

PubMed

Nucleotide

Protein

Genome

OMIM Update List for April, 2004

Please send your questions to the NCBI Help Desk.

April 30, 2004
New Entries:: 608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16, IN CHILDREN; 608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20, IN CHILDREN; 608614 CYTOCHROME P450, FAMILY 4, SUBFAMILY V, POLYPEPTIDE 2; 608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME; 608620 HSN2 GENE; HSN2; 608627 AMYOTROPHIC LATERAL SCLEROSIS 8; 608629 JOUBERT SYNDROME 3; 608630 RB-INHIBITING GENE 1; 608632 MICRO RNA 196; 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12; Clinical Synopsis for 300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE; Clinical Synopsis for 607554 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; Clinical Synopsis for 608563 AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND OPENBITE MALOCCLUSION, AUTOSOMAL; Clinical Synopsis for 608567 SICK SINUS SYNDROME 1; SSS1; Clinical Synopsis for 608583 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2; Clinical Synopsis for 608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G
Changed Entries:: 102300 RESTLESS LEGS SYNDROME; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; 132900 AORTIC ANEURYSM, THORACIC; 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 142900 HOLT-ORAM SYNDROME; HOS; 142950 HOMEOBOX A7; HOXA7; 142963 HOMEOBOX B8; HOXB8; 142970 HOMEOBOX C8; HOXC8; 142985 HOMEOBOX D8; HOXD8; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 155550 SILVER, MOUSE, HOMOLOG OF; SILV; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 176300 TRANSTHYRETIN; TTR; 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 201300 NEUROPATHY, HEREDITARY SENSORY, TYPE II; HSN2; 210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; 227400 FACTOR V DEFICIENCY; 300196 TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1; 601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601634 NEURAL TUBE DEFECT, FOLATE-SENSITIVE; 602099 AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5; 602521 MITOGEN-ACTIVATED PROTEIN KINASE 7; MAPK7; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 604025 AXIS INHIBITOR 2; AXIN2; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1; 606103 SESTRIN 1; SESN1; 606583 PEROXIREDOXIN 5; PRDX5; 606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3; 606641 BODY MASS INDEX; 607767 SESTRIN 2; SESN2; 607768 SESTRIN 3; SESN3; 607962 MICRO RNA 23; 608031 AMYOTROPHIC LATERAL SCLEROSIS 7; 608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G; 608628 TBL1-RELATED PROTEIN 1; Clinical Synopsis for 163800 SICK SINUS SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; Clinical Synopsis for 207900 ARGININOSUCCINICACIDURIA; Clinical Synopsis for 231100 HEMOCHROMATOSIS, NEONATAL; Clinical Synopsis for 252300 MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE

April 29, 2004
New Entries:: 608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO; 608623 NEUROECTODERMAL TUMORS, SUPRATENTORIAL PRIMITIVE, WITH CAFE-AU-LAIT; 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA; 608625 BCL2 INHIBITOR OF TRANSCRIPTION 1; 608626 STE20-RELATED ADAPTOR PROTEIN; 608628 TBL1-RELATED PROTEIN 1
Changed Entries:: 116806 CATENIN, BETA-1; CTNNB1; 117650 CEREBROCOSTOMANDIBULAR SYNDROME; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 131195 ENDOGLIN; ENG; 133239 ESOPHAGEAL CANCER; 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE; 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 234580 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS; 265400 PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE; 269880 SHORT SYNDROME; 276300 TURCOT SYNDROME; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD1; 312750 RETT SYNDROME; RTT; 314700 XG BLOOD GROUP SYSTEM; XG; 600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 600742 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3; 600776 ANOPHTHALMIA-PLUS SYNDROME; 601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1; 601559 STUVE-WIEDEMANN SYNDROME; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 603500 TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN;; 603951 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 605039 C-LIKE SYNDROME; 606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1; 606434 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A9; UGT1A9

April 28, 2004
New Entries:: 300492 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER A; FAM3A; 608567 SICK SINUS SYNDROME 1; SSS1; 608583 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2; 608617 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER B; FAM3B; 608618 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER C; FAM3C; 608619 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER D; FAM3D; 608621 SPERM AUTOANTIGENIC PROTEIN 17; SPA17
Changed Entries:: 103280 H19 GENE; H19; 106150 ANGIOTENSIN I; AGT; 116954 MOVED TO 120920; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 126452 DOPAMINE RECEPTOR D4; DRD4; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 163800 SICK SINUS SYNDROME, AUTOSOMAL DOMINANT; 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605743 MELANOMA ANTIGEN RECOGNIZED BY T CELLS 2; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606287 MOVED TO 605743; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 606674 INFLAMMATORY BOWEL DISEASE 6; IBD6; 607554 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 608583 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2

April 27, 2004
New Entries:: 608610 PROGRAMMED CELL DEATH 4; PDCD4; 608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY; 608613 TRANSCRIPTION FACTOR Sp6; SP6; 608616 OBSCURIN; OBSCN
Changed Entries:: 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF; 106300 ANKYLOSING SPONDYLITIS; 107240 MOVED TO 116930; 116930 CELL ADHESION MOLECULE, NEURAL, 1; NCAM1; 119540 CLEFT PALATE, ISOLATED; CPI; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 133780 EXUDATIVE VITREORETINOPATHY, FAMILIAL; EVR; 135630 INTEGRIN, BETA-1; ITGB1; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 145750 HYPERTRIGLYCERIDEMIA, FAMILIAL; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 179820 RENIN; REN; 180430 RIBOSE 5-PHOSPHATE ISOMERASE A; RPIA; 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1; 188350 THYMIDYLATE SYNTHETASE; TYMS; 189907 TRANSCRIPTION FACTOR 2; TCF2; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 253220 MUCOPOLYSACCHARIDOSIS TYPE VII; 256700 NEUROBLASTOMA; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 270150 SJOGREN SYNDROME; 300017 FILAMIN A; FLNA; 300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 309500 RENPENNING SYNDROME 1; RENS1; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 313700 ANDROGEN RECEPTOR; AR; 600374 BBS4 GENE; BBS4; 600435 CARDIOTROPHIN 1; CTF1; 600560 SHC TRANSFORMING PROTEIN; SHC1; 601143 DYNACTIN 1; DCTN1; 601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1; 601583 WILMS TUMOR SUPPRESSOR LOCUS; 602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9; 602322 TELOMERASE RNA COMPONENT; TERC; 602603 MAGO NASHI, DROSOPHILA, HOMOLOG OF; MAGOH; 603301 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 2;; 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5; 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4; 604284 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 604913 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7; 605313 RNA-BINDING MOTIF PROTEIN 8A; RBM8A; 605328 KRUPPEL-LIKE FACTOR 13; KLF13; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606368 APOLIPOPROTEIN A-V; APOA5; 607968 PARATHYROID HORMONE-RESPONSIVE B1 GENE; 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2; 608400 USH2A GENE; USH2A

April 23, 2004
New Entries:: 608593 FACTOR H-RELATED PROTEIN 5; 608604 RETINOL-BINDING PROTEIN 7; RBP7; 608605 SOURCE OF IMMUNODOMINANT MAJOR HISTOCOMPATIBILITY COMPLEX-ASSOCIATED; 608606 BASIC HELIX-LOOP-HELIX PROTEIN MIST1; 608607 CHROMOSOME 1 AMPLIFIED SEQUENCE 1; 608608 CHROMOSOME 1 AMPLIFIED SEQUENCE 2; 608609 CHROMOSOME 1 AMPLIFIED SEQUENCE 3
Changed Entries:: 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 164745 OMODYSPLASIA; 178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC; 179615 RECOMBINATION-ACTIVATING GENE 1; RAG1; 179616 RECOMBINATION-ACTIVATING GENE 2; RAG2; 180260 RETINOL-BINDING PROTEIN 1; RBP1; 180280 RETINOL-BINDING PROTEIN 2; RBP2; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 193400 VON WILLEBRAND DISEASE; 216550 COHEN SYNDROME; COH1; 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; 258315 OMODYSPLASIA, GENERALIZED FORM; 259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE; 265120 PULMONARY ALVEOLAR PROTEINOSIS; 600147 MESENCHYME HOMEOBOX 1; MEOX1; 600390 UPSTREAM STIMULATORY FACTOR 2; USF2; 600652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4; 606847 TCOF1 GENE; 608553 LEBER CONGENITAL AMAUROSIS, TYPE IX; 608568 MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14

April 22, 2004
New Entries:: 608602 NUCLEAR BODY PROTEIN SP140; SP140; 608603 CANCER-RELATED GENE, LIVER, 2
Changed Entries:: 117550 SOTOS SYNDROME; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 171200 THIOUREA TASTING; 227650 FANCONI ANEMIA; FA; 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL; TTP; 305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1; 306900 HEMOPHILIA B; HEMB; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604585 NUCLEAR ANTIGEN SP100; SP100; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606561 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 1;; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 608331 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 2;; 608332 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3;; 608575 RETINOL DEHYDROGENASE 8; RDH8

April 21, 2004
New Entries:: 300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE; 608595 G PROTEIN-COUPLED RECEPTOR 154; GPR154; 608596 ASTHMA-ASSOCIATED ALTERNATIVELY SPLICED GENE 1; 608598 CANCER SUSCEPTIBILITY CANDIDATE 2; CASC2; 608599 RAB11 FAMILY-INTERACTING PROTEIN 2; 608601 FIBROSIN 1; FBS1
Changed Entries:: 143100 HUNTINGTON DISEASE; HD; 158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 300035 EPHRIN B1; EFNB1; 300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE; 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR; 301830 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED; 313440 SYNAPSIN I; SYN1; 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST; 600747 T-BOX 2; TBX2; 600807 ASTHMA; 601621 T-BOX 3; TBX3; 602323 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 12; KCNJ12; 602327 PLECKSTRIN-SEC7 DOMAINS PROTEIN; PSD; 602604 MOVED TO 602323; 608528 CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1; 608584 ASTHMA SUSCEPTIBILITY 2; 608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; 608595 G PROTEIN-COUPLED RECEPTOR 154; GPR154; 608596 ASTHMA-ASSOCIATED ALTERNATIVELY SPLICED GENE 1; 608598 CANCER SUSCEPTIBILITY CANDIDATE 2; CASC2

April 20, 2004
New Entries:: 608597 NEURALIZED-LIKE 2; NEURL2
Changed Entries:: 113530 BRANCHED-CHAIN AMINOTRANSFERASE 2; BCAT2; 115080 CARDIAC CONDUCTION DEFECT; 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; 123830 CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP; 164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176266 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176760 PROLACTIN; PRL; 180200 RETINOBLASTOMA; RB1; 180902 RYANODINE RECEPTOR 2; RYR2; 186590 SYNTAXIN 1A; STX1A; 191060 TRYPTOPHAN HYDROXYLASE; TPH; 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; 227500 FACTOR VII DEFICIENCY; 248600 MAPLE SYRUP URINE DISEASE; 261000 PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR; 300392 WAS GENE; WAS; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST; 602358 HYPOCRETIN; HCRT; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1; 604538 KINESIN FAMILY MEMBER 2C; KIF2C; 604970 AURORA KINASE B; AURKB; 605207 CYTOCHROME P450, SUBFAMILY XXVIB, POLYPEPTIDE 1; CYP26B1; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 607556 TWIST, DROSOPHILA, HOMOLOG OF, 2; TWIST2; 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL; 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; 608455 GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM; Clinical Synopsis for 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; Clinical Synopsis for 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

April 19, 2004
New Entries:: 608589 SLAM FAMILY, MEMBER 9; SLAMF9; 608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; 608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL
Changed Entries:: 108770 ATRIAL CARDIOMYOPATHY WITH HEART BLOCK; 109530 CD48 ANTIGEN; CD48; 116952 CELL DIVISION CYCLE 42; CDC42; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 125880 DIAPHORASE 3; DIA3; 129600 ECTOPIA LENTIS, ISOLATED; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 147139 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT;; 189500 WITKOP SYNDROME; 200610 ACHONDROGENESIS, TYPE II; ACG2; 223340 DK--PHOCOMELIA SYNDROME; 225100 ECTOPIA LENTIS; 225500 ELLIS-VAN CREVELD SYNDROME; EVC; 250600 METATROPIC DWARFISM; 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; 269500 SCLEROSTEOSIS; SOST; 271550 SPONDYLOENCHONDRODYSPLASIA; 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2; 600684 T-LYMPHOCYTE SURFACE ANTIGEN LY-9; LY9; 600721 D-2-@HYDROXYGLUTARICACIDURIA; 601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3; 601719 T-BOX 4; TBX4; 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1; 602358 HYPOCRETIN; HCRT; 602535 MARSHALL-SMITH SYNDROME; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 603198 RNA POLYMERASE I AND TRANSCRIPT RELEASE FACTOR; PTRF; 603492 SLAM FAMILY, MEMBER 1; SLAMF1; 604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP; 604513 CD84 ANTIGEN; CD84; 604950 PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PHTF1; 605323 C-TERMINAL DOMAIN OF RNA POLYMERASE II POLYPEPTIDE A, SMALL PHOSPHATASE; 605554 CD244 ANTIGEN; CD244; 606446 SLAM FAMILY, MEMBER 6; SLAMF6; 606620 SLAM FAMILY, MEMBER 8; SLAMF8; 606625 SLAM FAMILY, MEMBER 7; SLAMF7; 606862 OSTEOCLAST-ASSOCIATED RECEPTOR; 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL; 608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7

April 16, 2004
New Entries:: 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR; 608563 AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND OPENBITE MALOCCLUSION, AUTOSOMAL; 608585 BRACHIAL PALSY, FAMILIAL CONGENITAL; 608586 KERATOCONUS 3; KTCN3; 608587 LGP1, MOUSE, HOMOLOG OF; 608588 LGP2, MOUSE, HOMOLOG OF
Changed Entries:: 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF; 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS; 109565 B-CELL LYMPHOMA 6; BCL6; 112350 BOWING OF LEGS, ANTERIOR, WITH DWARFISM; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 123830 CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 134610 FAMILIAL MEDITERRANEAN FEVER-LIKE SYNDROME WITH AMYLOIDOSIS, AUTOSOMAL; 145000 HYPERPARATHYROIDISM 1; HRPT1; 145270 HYPERPROGLUCAGONEMIA; 145500 HYPERTENSION, ESSENTIAL; 148300 KERATOCONUS 1; KTCN1; 153650 EPSTEIN SYNDROME; 162820 NEUTROPHIL CHEMOTACTIC RESPONSE; NCR; 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 166900 OVALOCYTOSIS, HEREDITARY HEMOLYTIC; 176300 TRANSTHYRETIN; TTR; 206800 ANONYCHIA; 208050 ARTERIAL TORTUOSITY; 226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA; 228550 FIBROMATOSIS, CONGENITAL GENERALIZED; CGF; 230710 GANGLIOSIDOSIS, GM2, JUVENILE, A(M)B VARIANT; 235200 HEMOCHROMATOSIS; HFE; 242870 IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS; 257320 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE; 261590 PHENFORMIN 4-HYDROXYLATION; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 269000 SC PHOCOMELIA SYNDROME; 271980 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1; 300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 313440 SYNAPSIN I; SYN1; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 601964 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 7; DNAJC7; 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP; 603023 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 605383 INTERLEUKIN 21 RECEPTOR; IL21R; 606585 ENAMELIN; ENAM; 607277 ASTHMA SUSCEPTIBILITY 1; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608584 ASTHMA SUSCEPTIBILITY 2; 608586 KERATOCONUS 3; KTCN3

April 15, 2004
New Entries:: 608584 ASTHMA SUSCEPTIBILITY LOCUS 2
Changed Entries:: 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA; 136140 FLOATING-HARBOR SYNDROME; 137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2; 209900 BARDET-BIEDL SYNDROME; BBS; 604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2; 606463 GLUCOSIDASE, ACID BETA; GBA; 608136 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10; ARHGEF10

April 14, 2004
New Entries:: 608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7
Changed Entries:: 102620 ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2; 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 155950 MELORHEOSTOSIS; 158320 MUIR-TORRE SYNDROME; MTS; 166700 BUSCHKE-OLLENDORFF SYNDROME; 170650 PERIODONTITIS, JUVENILE; JPD; 174900 POLYPOSIS, JUVENILE INTESTINAL; 176975 PROTEIN KINASE C, EPSILON; PRKCE; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 234100 HALLERMANN-STREIFF SYNDROME; HSS; 248370 MANDIBULOACRAL DYSPLASIA; MAD; 266500 REFSUM DISEASE; 266510 REFSUM DISEASE, INFANTILE FORM; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600582 ASPARTATE BETA-HYDROXYLASE; ASPH; 601142 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER; 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602365 CATHEPSIN C; CTSC; 602570 JAGGED 2; JAG2; 604472 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13; 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24; 606614 RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 2; RASGRF2; 606869 HEXOSAMINIDASE A; HEXA; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16

April 13, 2004
New Entries:: 608579 TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO; 608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16; 608581 RP1-LIKE PROTEIN 1; RP1L1
Changed Entries:: 115440 CASEIN KINASE II, ALPHA-1; CSNK2A1; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 155255 MEDULLOBLASTOMA; 156610 MICHELIN TIRE BABY SYNDROME; 163800 NODAL RHYTHM; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 182889 ZONA PELLUCIDA GLYCOPROTEIN 3; ZP3; 194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1; 223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 229850 FRYNS SYNDROME; FRNS; 243605 JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES; 248340 MALPUECH FACIAL CLEFTING SYNDROME; 256520 NEU-LAXOVA SYNDROME; NLS; 310600 NORRIE DISEASE; NDP; 601132 KINASE SUPPRESSOR OF RAS; KSR; 603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 606594 SET DOMAIN-CONTAINING PROTEIN 7; 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5; 608579 TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO; 608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16

April 12, 2004
Changed Entries:: 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 112266 BONE MORPHOGENETIC PROTEIN 6; BMP6; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 126255 DISTAL-LESS HOMEOBOX 2; DLX2; 600463 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A3; ALDH1A3; 600483 FIBROBLAST GROWTH FACTOR 8; FGF8; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7; 602026 PHYTANOYL-CoA HYDROXYLASE; PHYH; 605120 GROWTH/DIFFERENTIATION FACTOR 2; GDF2; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; Clinical Synopsis for 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2

April 12, 2004
New Entries:: 608575 RETINOL DEHYDROGENASE 8; RDH8; 608577 CHURCHILL; 608578 CEREBROFRONTOFACIAL SYNDROME
Changed Entries:: 102560 ACTIN, GAMMA-1; ACTG1; 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 118450 ALAGILLE SYNDROME; AGS; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2; 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1; 132811 EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2; 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E; 136880 FUNDUS ALBIPUNCTATUS; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 148600 KERATOSIS PALMOPLANTARIS PAPULOSA; 150205 LACTOPEROXIDASE; LPO; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 163950 NOONAN SYNDROME 1; NS1; 164160 LEPTIN; LEP; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 169400 PELGER-HUET ANOMALY; PHA; 176720 PROLACTIN-INDUCIBLE PROTEIN; PIP; 176807 PROSTATE CANCER; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 189972 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 1; GTF2H1; 191092 TUBEROUS SCLEROSIS 2 GENE; TSC2; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 212780 CENANI SYNDACTYLISM; 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA; 229300 FRIEDREICH ATAXIA 1; FRDA; 231100 HEMOCHROMATOSIS, NEONATAL; 235555 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH DELTA(4)-3-OXOSTEROID; 249620 MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS,; 259775 OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL; 304110 CRANIOFRONTONASAL SYNDROME; CFNS; 306900 HEMOPHILIA B; HEMB; 313700 ANDROGEN RECEPTOR; AR; 600024 LAMIN B RECEPTOR; LBR; 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP; 600514 REELIN; RELN; 600564 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4; ITIH4; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3; 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA; 602390 HEMOCHROMATOSIS, JUVENILE; JH; 602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; 602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1; 602740 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1; 602742 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1; 602780 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603283 TRIADIN; TRDN; 603310 PHOSPHODIESTERASE 5A; PDE5A; 603381 FILAMIN B; FLNB; 603453 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 1; RIPK1; 603903 SICKLE CELL ANEMIA; 604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC; 604181 RIBOSOMAL PROTEIN L37; RPL37; 604344 MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 1; MAN1A1; 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D; 605817 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606256 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7; 606869 HEXOSAMINIDASE A; HEXA; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 607444 SBDS GENE; SBDS; 607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 608400 USH2A GENE; USH2A; 608524 INHIBITOR OF GROWTH 4; ING4; Clinical Synopsis for 119300 VAN DER WOUDE SYNDROME; VWS; Clinical Synopsis for 129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2

April 6, 2004
New Entries:: 608573 NOVEL GENE EXPRESSED IN PROSTATE; 608574 EMSY GENE
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 106300 ANKYLOSING SPONDYLITIS; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 180385 LIM DOMAIN ONLY 2; LMO2; 208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; 249420 MELNICK-NEEDLES SYNDROME; 267450 RESPIRATORY DISTRESS SYNDROME; RDS; 309350 MELNICK-NEEDLES SYNDROME; MNS; 600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3; 602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB; 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA; 602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; 604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1; 605382 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; 606582 DELTA-LIKE 1; DLL1; 608552 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B; Clinical Synopsis for 605382 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

April 5, 2004
New Entries:: 608568 MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14; 608569 CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA; 608570 AHNAK NUCLEOPROTEIN 2; 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY; 608572 BURN-MCKEOWN SYNDROME
Changed Entries:: 103390 AHNAK NUCLEOPROTEIN; AHNAK; 112200 BLUE RUBBER BLEB NEVUS; 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; 145500 HYPERTENSION, ESSENTIAL; 180200 RETINOBLASTOMA; RB1; 186760 ANTIGEN CD28; CD28; 186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1; 308240 LYMPHOPROLIFERATIVE SYNDROME; 600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD; 601439 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9; 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D; 603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA; 604250 HEMOCHROMATOSIS, TYPE 3; HFE3; 604640 T-CELL LEUKEMIA HOMEOBOX 3; TLX3; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 608507 MITOFUSIN 2; MFN2; 608566 MUCIN 15, TRANSMEMBRANE; MUC15; 608569 CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA; Clinical Synopsis for 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; Mini-MIM for 145500 HYPERTENSION, ESSENTIAL

April 2, 2004
New Entries:: 608566 MUCIN 15, TRANSMEMBRANE; MUC15
Changed Entries:: 108720 ATELOSTEOGENESIS, TYPE I; AOI; 108721 ATELOSTEOGENESIS, TYPE III; AOIII; 113705 BREAST CANCER 1 GENE; BRCA1; 114025 CATENIN, ALPHA-2; CTNNA2; 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 153440 LYMPHOTOXIN-ALPHA; LTA; 159440 MYELIN PROTEIN ZERO; MPZ; 180200 RETINOBLASTOMA; RB1; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300127 OLIGOPHRENIN 1; OPHN1; 300166 OCULOFACIOCARDIODENTAL SYNDROME; 300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2; 300485 BCL6 COREPRESSOR; BCOR; 312750 RETT SYNDROME; RTT; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1; 601995 TENASCIN-R; TNR; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602229 SRY-BOX 10; SOX10; 602491 HYPERLIPIDEMIA, COMBINED, 1; 603381 FILAMIN B; FLNB; 603628 MUSCULIN; MSC; 603903 SICKLE CELL ANEMIA; 604475 RETICULON 4; RTN4; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D; 606986 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 608528 CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1

April 1, 2004
New Entries:: 608560 STABILIN 1; STAB1; 608561 STABILIN 2; STAB2; 608562 POLYDACTYLY, POSTAXIAL, TYPE A4; 608564 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 2; GIT2; 608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Changed Entries:: 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 134920 FIBROBLAST GROWTH FACTOR 2; FGF2; 180200 RETINOBLASTOMA; RB1; 193060 VIMENTIN; VIM; 246900 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD; 248600 MAPLE SYRUP URINE DISEASE; 253220 MUCOPOLYSACCHARIDOSIS TYPE VII; 256000 LEIGH SYNDROME; LS; 602085 POLYDACTYLY, POSTAXIAL, TYPE A2; 603009 DYSFERLIN; DYSF; 605989 PROTEIN INHIBITOR OF ACTIVATED STAT Y; 606158 BSCL2 GENE; BSCL2; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; 607144 DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE; 607324 POLYDACTYLY, POSTAXIAL, TYPE A3; 608553 LEBER CONGENITAL AMAUROSIS, TYPE IX; 608561 STABILIN 2; STAB2; Clinical Synopsis for 103420 ALACRIMA, CONGENITAL; Clinical Synopsis for 113500 BRACHYRACHIA; Clinical Synopsis for 248600 MAPLE SYRUP URINE DISEASE

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

OMIM Update List for April, 2004

April 30, 2004

April 29, 2004

April 28, 2004

April 27, 2004

April 23, 2004

April 22, 2004

April 21, 2004

April 20, 2004

April 19, 2004

April 16, 2004

April 15, 2004

April 14, 2004

April 13, 2004

April 12, 2004

April 12, 2004

April 6, 2004

April 5, 2004

April 2, 2004

April 1, 2004