OMIM Update List for January, 2005

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Nucleotide

Protein

Genome

OMIM Update List for January, 2005

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January 28, 2005
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 107200 ANOSMIA, CONGENITAL; 108420 ASPERMIOGENESIS FACTOR; 120353 MATRIX METALLOPROTEINASE 1; MMP1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPD; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 143100 HUNTINGTON DISEASE; HD; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 177170 PSEUDOACHONDROPLASTIC DYSPLASIA; 251600 MICROPHTHALMOS, AUTOSOMAL RECESSIVE; 300119 INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1; 313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE; SAT; 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP; 600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4; 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2; 600536 INTEGRIN, ALPHA-7; ITGA7; 601650 PARAGANGLIOMAS 2; PGL2; 602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9; 603718 CLAUDIN 1; CLDN1; 603954 ZESTE-WHITE 10, DROSOPHILA, HOMOLOG OF; ZW10; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 604411 INNER CENTROMERE PROTEIN; INCENP; 604477 CHROMOBOX HOMOLOG 3; CBX3; 604478 CHROMOBOX HOMOLOG 5; CBX5; 604515 B-CELL LINKER PROTEIN; BLNK; 605373 PARAGANGLIOMAS 3; PGL3; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 607272 KINETOCHORE-ASSOCIATED PROTEIN 2; KNTC2; 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; 607709 TIGHT JUNCTION PROTEIN 2; TJP2; 609169 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDS; 609178 MIS12, S. POMBE, HOMOLOG OF; MIS12

January 27, 2005
New Entries:: 609114 DESTRIN; DSTN; 609152 HYPERTHYROIDISM, NONAUTOIMMUNE; 609173 ALL1-FUSED GENE FROM CHROMOSOME 15q14; 609174 CHROMOSOME 1 OPEN READING FRAME 48; C1ORF48; 609175 CHROMOSOME 20 OPEN READING FRAME 172; C20ORF172; 609176 POLYAMINE-MODULATED FACTOR 1; PMF1; 609177 ZW10 INTERACTOR; ZWINT; 609178 MIS12, S. POMBE, HOMOLOG OF; MIS12
Changed Entries:: 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 143100 HUNTINGTON DISEASE; HD; 147460 SUPEROXIDE DISMUTASE 2; SOD2; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 208050 ARTERIAL TORTUOSITY; 235200 HEMOCHROMATOSIS; HFE; 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE; 249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME; 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC; 300032 ATR-X GENE; ATRX; 535000 LEBER OPTIC ATROPHY; 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 605211 BARH-LIKE 1; BARHL1; 605499 ZW10 INTERACTOR, ANTISENSE; ZWINTAS; 606463 GLUCOSIDASE, ACID BETA; GBA; Clinical Synopsis for 164200 OCULODENTODIGITAL DYSPLASIA; ODDD

January 26, 2005
New Entries:: 300520 CLAUDIN 2; CLDN2; 609131 CLAUDIN 7; CLDN7; 609170 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 4; TXNDC4; 609171 CDC42 EFFECTOR PROTEIN 5; CDC42EP5; 609172 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16A; PPP1R16A
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 105830 ANGELMAN SYNDROME; AS; 119915 CLUSTER HEADACHE, FAMILIAL; 120200 COLOBOMA, OCULAR; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 158350 COWDEN DISEASE; CD; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 159440 MYELIN PROTEIN ZERO; MPZ; 161800 NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1; 162660 NEUROTROPHIN 3; NTF3; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 179490 RAS-ASSOCIATED PROTEIN RAB3A; RAB3A; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 180903 RYANODINE RECEPTOR 3; RYR3; 182131 5-@HYDROXYTRYPTAMINE RECEPTOR 1B; HTR1B; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 188530 MOVED TO 118850; 188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB; 190000 TRANSFERRIN; TF; 190990 TROPOMYOSIN 2; TPM2; 262600 PITUITARY DWARFISM III; 275000 GRAVES DISEASE; 275200 THYROTROPIN RESISTANCE; 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1; 300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED; 313440 SYNAPSIN I; SYN1; 400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1; 600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600759 PRESENILIN 2; PSEN2; 600812 SPLICING FACTOR, ARGININE/SERINE-RICH, 1; SFRS1; 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; 601485 SYNTAXIN 1B; STX1B; 601576 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PTPRS; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601769 VITAMIN D RECEPTOR; VDR; 602101 CLAUDIN 5; CLDN5; 602393 HYPOCRETIN RECEPTOR 2; HCRTR2; 602463 DIHYDROPYRIMIDINASE-LIKE 2; DPYSL2; 602716 NEPHRIN; NPHS1; 602909 CLAUDIN 4; CLDN4; 602910 CLAUDIN 3; CLDN3; 603381 FILAMIN B; FLNB; 603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2; 604001 A-KINASE ANCHOR PROTEIN 9; AKAP9; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 606159 BASAL GANGLIA DISEASE, ADULT-ONSET; 606653 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6; 606654 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 7; 606655 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8; 606666 G PROTEIN-COUPLED RECEPTOR 48; GPR48; 606667 G PROTEIN-COUPLED RECEPTOR 49; GPR49; 607708 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D; 607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; 607892 DESMOGLEIN 4; DSG4; 608524 INHIBITOR OF GROWTH 4; ING4; 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5; 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR; 609113 TELOMERE LENGTH, MEAN LEUKOCYTE; 609131 CLAUDIN 7; CLDN7; 609148 MALARIA, MILD, SUSCEPTIBILITY TO; Clinical Synopsis for 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

January 21, 2005
New Entries:: 609165 RETICULAR ERYTHROKERATODERMA; 609169 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDS
Changed Entries:: 104500 AMELOGENESIS IMPERFECTA 2, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT;; 104530 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 136470 FOLLISTATIN; FST; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPD; 142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G; 148050 KBG SYNDROME; 151900 LIPOMATOSIS, MULTIPLE; 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; 161555 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 1; KLRC1; 182280 SMALL CELL CANCER OF THE LUNG; 266200 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; 275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC; 301200 AMELOGENESIS IMPERFECTA 1, HYPOPLASTIC TYPE; AIH1; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 600807 ASTHMA, SUSCEPTIBILITY TO; 600902 SELENOPHOSPHATE SYNTHETASE 1; 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT; 601400 MOVED TO 275355; 601566 INHIBITOR OF GROWTH 1; ING1; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 602187 ZINC FINGER PROTEIN 195; ZNF195; 602243 CD151 ANTIGEN; CD151; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602891 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 2; KLRC2; 602892 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 3; KLRC3; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 603612 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B; 606218 SELENOPHOSPHATE SYNTHETASE 2; 606919 LAG1, S. CEREVISIAE, HOMOLOG OF, 1; LASS1; 607493 INHIBITOR OF GROWTH 3; ING3

January 20, 2005
New Entries:: 609166 BRANCHIOGENIC-DEAFNESS SYNDROME; Clinical Synopsis for 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I; OPTA1; Clinical Synopsis for 607636 VAN BUCHEM DISEASE, TYPE 2; Clinical Synopsis for 608454 KNOBLOCH SYNDROME, TYPE II; Clinical Synopsis for 608902 DEBRISOQUINE, POOR METABOLISM OF; Clinical Synopsis for 609008 MARFANOID HABITUS WITH SITUS INVERSUS
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 103050 ADENYLOSUCCINASE DEFICIENCY; 117350 MOVED TO 183090; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 123853 CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME; 142409 HEPATOCYTE GROWTH FACTOR; HGF; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 169600 BENIGN CHRONIC PEMPHIGUS; BCPM; 173350 PLASMINOGEN; PLG; 180200 RETINOBLASTOMA; RB1; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 187380 TENASCIN C; TNC; 211350 KYPHOMELIC DYSPLASIA; 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 220200 DANDY-WALKER SYNDROME; DWS; 220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT; 225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE; 243910 ARIMA SYNDROME; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 251290 PSEUDO-TORCH SYNDROME; 258480 OPSISMODYSPLASIA; 259100 OSTEOARTHROPATHY, FAMILIAL IDIOPATHIC, OF CHILDHOOD; 259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE; 264090 PROGEROID SYNDROME, NEONATAL; 265800 PYCNODYSOSTOSIS; 267430 RENAL TUBULAR DYSGENESIS; 268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME; 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL; 300000 OPITZ SYNDROME; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 600057 EXSTROPHY OF BLADDER; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601536 ATHABASKAN BRAIN STEM DYSGENESIS; ABSD; 601776 ADDUCTED THUMB-CLUBFOOT SYNDROME; 601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14; 601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4; 602125 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10; COX10; 602558 CRANIOMICROMELIC SYNDROME; 602667 NBS1 GENE; NBS1; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1; 605030 SERINE/THREONINE PROTEIN KINASE 3; STK3; 605821 ERYTHROID-ASSOCIATED FACTOR; ERAF; 605838 BABY RATTLE PELVIS DYSPLASIA; 606156 SENER SYNDROME; 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I; OPTA1; 607636 VAN BUCHEM DISEASE, TYPE 2; 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; 608222 ADENYLOSUCCINATE LYASE; ADSL; 608454 KNOBLOCH SYNDROME, TYPE II; 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; 608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB; 609008 MARFANOID HABITUS WITH SITUS INVERSUS; Clinical Synopsis for 117350 MOVED TO 183090; Clinical Synopsis for 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B; Clinical Synopsis for 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I; OPTA1

January 19, 2005
New Entries:: 609162 CZECH DYSPLASIA, METATARSAL TYPE; Clinical Synopsis for 601884 HIGH BONE MASS; HBM; Clinical Synopsis for 606156 SENER SYNDROME; Clinical Synopsis for 606170 GENITOPATELLAR SYNDROME; Clinical Synopsis for 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD; Clinical Synopsis for 608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 112440 BRACHYDACTYLY, COMBINED B AND E TYPES; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 134570 FACTOR XIII, A1 SUBUNIT; F13A1; 138750 GLYOXALASE I; GLO1; 145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE; 165161 ONCOGENE JUN-B; JUNB; 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 182307 SOLUTE CARRIER FAMILY 9, ISOFORM A3; SLC9A3; 191170 TUMOR PROTEIN p53; TP53; 212060 CARBIMAZOLE SENSITIVITY; 217100 CONSTRICTING BANDS, CONGENITAL; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 271530 SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA; 300160 DEAD/H BOX 3, X-LINKED; DDX3; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 311601 MOVED TO 312080; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ; 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP; 601212 PROTEIN-TYROSINE KINASE 2, BETA; PTK2B; 601884 HIGH BONE MASS; HBM; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602402 FORKHEAD BOX C2; FOXC2; 602544 PARKIN; PARK2; 602559 EXPORTIN 1; XPO1; 602757 EPHRIN RECEPTOR EphB6; EPHB6; 602857 CHIMERIN 2; CHN2; 604999 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1; SHANK1; 606170 GENITOPATELLAR SYNDROME; 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD; 608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE; 608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4; Clinical Synopsis for 103500 TIETZ SYNDROME; Clinical Synopsis for 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1; Clinical Synopsis for 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Clinical Synopsis for 170650 PERIODONTITIS, JUVENILE; JPD; Clinical Synopsis for 176450 CURRARINO SYNDROME; Clinical Synopsis for 186550 SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY; Clinical Synopsis for 193530 WEYERS ACROFACIAL DYSOSTOSIS; Clinical Synopsis for 209850 AUTISM; Clinical Synopsis for 218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,; Clinical Synopsis for 226750 EPILEPSY AND YELLOW TEETH; Clinical Synopsis for 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS; Clinical Synopsis for 267750 KNOBLOCH SYNDROME; KNO; Clinical Synopsis for 269920 INFANTILE SIALIC ACID STORAGE DISORDER; Clinical Synopsis for 275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION; Clinical Synopsis for 277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE; Clinical Synopsis for 280000 ZUNICH NEUROECTODERMAL SYNDROME; Clinical Synopsis for 300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1; Clinical Synopsis for 300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2; Clinical Synopsis for 300496 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3; Clinical Synopsis for 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS; Clinical Synopsis for 600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS

January 18, 2005
New Entries:: 609168 SHUGOSHIN-LIKE 1; SGOL1; Clinical Synopsis for 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1
Changed Entries:: 107941 ARRESTIN, BETA, 2; ARRB2; 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1; 109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1; 113705 BREAST CANCER 1 GENE; BRCA1; 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1; 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1; 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6; 140300 HASHIMOTO THYROIDITIS; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1; 147920 KABUKI SYNDROME; 191130 TUBULIN, BETA; TUBB; 215700 CITRULLINEMIA, CLASSIC; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC; 306900 HEMOPHILIA B; HEMB; 600185 BREAST CANCER 2 GENE; BRCA2; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 600725 SONIC HEDGEHOG; SHH; 600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE; 601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH; 602452 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF;; 602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9; 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF; 604592 T CELL IMMUNE REGULATOR 1; TCIRG1; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 605743 HEDGEHOG ACYLTRANSFERASE; HHAT; 607139 FANCA GENE; FANCA; 608911 CHOANAL ATRESIA, POSTERIOR; PCA; Clinical Synopsis for 103500 TIETZ SYNDROME; Clinical Synopsis for 170650 PERIODONTITIS, JUVENILE; JPD; Clinical Synopsis for 193530 WEYERS ACROFACIAL DYSOSTOSIS; Clinical Synopsis for 204690 AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS; Clinical Synopsis for 216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES; Clinical Synopsis for 218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,; Clinical Synopsis for 220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT

January 14, 2005
New Entries:: 609164 UMBILICUS, FAMILIAL FLAT
Changed Entries:: 140559 HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L; 147791 JACOBSEN SYNDROME; JBS; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT; 223100 HYPOLACTASIA, ADULT TYPE; 300297 APELIN; APLN; 600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 603202 LACTASE; LCT

January 13, 2005
New Entries:: 609163 G PROTEIN-COUPLED RECEPTOR 109A; GPR109A
Changed Entries:: 108600 ATAXIA, SPASTIC, AUTOSOMAL DOMINANT; SAX1; 113700 BREASTS AND NIPPLES, ABSENCE OF; 135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; 174763 POLYMERASE, DNA, GAMMA; POLG; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 180860 SILVER-RUSSELL SYNDROME; SRS; 182230 SEPTOOPTIC DYSPLASIA; 191130 TUBULIN, BETA; TUBB; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 603118 CADHERIN 16; CDH16; 603470 ARGININOSUCCINATE SYNTHETASE; ASS; 603718 CLAUDIN 1; CLDN1; 605382 MOVED TO 167320; 606039 G PROTEIN-COUPLED RECEPTOR 109B; GPR109B; 606923 G PROTEIN-COUPLED RECEPTOR 81; GPR81

January 12, 2005
New Entries:: 609160 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7
Changed Entries:: 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 131240 ENDOTHELIN 1; EDN1; 139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE; 147460 SUPEROXIDE DISMUTASE 2; SOD2; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A; 166710 OSTEOPOROSIS, INVOLUTIONAL; 168450 PARATHYROID HORMONE; PTH; 177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; 182230 SEPTOOPTIC DYSPLASIA; 185020 PSEUDOHYPERKALEMIA CARDIFF; 191130 TUBULIN, BETA; TUBB; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 210900 BLOOM SYNDROME; BLM; 227400 FACTOR V DEFICIENCY; 252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2; 300078 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1; 309600 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS; 309700 MICROPHTHALMIA; 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 601419 DESMINOPATHY, PRIMARY; 601486 DELETED IN AZOOSPERMIA-LIKE; DAZL; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 602529 TUBULIN, ALPHA, BRAIN-SPECIFIC; 602592 LYMPHOCYTE ANTIGEN CD5-LIKE; CD5L; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 605161 WAP 4-DISULFIDE CORE DOMAIN 5; WFDC5; 605322 WAP 4-DISULFIDE CORE DOMAIN 1; WFDC1; 605484 Fc FRAGMENT OF IgA AND IgM, RECEPTOR FOR; 605691 GLIOMA TUMOR SUPPRESSOR CANDIDATE REGION GENE 2; GLTSCR2; 607108 PAIRED BOX GENE 6; PAX6; 608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1; 608581 RP1-LIKE PROTEIN 1; RP1L1; 608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1; 609160 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7; Clinical Synopsis for 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; Clinical Synopsis for 603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D; Clinical Synopsis for 609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G

January 11, 2005
New Entries:: 609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G; 609153 PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; 609154 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 3; ASCL3; 609155 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 4; ASCL4; 609156 NICALIN, ZEBRAFISH, HOMOLOG OF; NCLN; 609157 NODAL MODULATOR 1; NOMO1; 609158 NODAL MODULATOR 2; NOMO2; 609159 NODAL MODULATOR 3; NOMO3; Clinical Synopsis for 608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; Clinical Synopsis for 608864 OROFACIAL CLEFT 6; Clinical Synopsis for 608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8; Clinical Synopsis for 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY; Clinical Synopsis for 609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G
Changed Entries:: 100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 1; ASCL1; 102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1; 108420 ASPERMIOGENESIS FACTOR; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA; 118496 CHOLINERGIC RECEPTOR, MUSCARINIC, 5; CHRM5; 118502 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2; 118505 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5; CHRNA5; 120970 CONE-ROD DYSTROPHY 2; CORD2; 126141 DIPEPTIDYL PEPTIDASE VI; DPP6; 126452 DOPAMINE RECEPTOR D4; DRD4; 128990 EARLY GROWTH RESPONSE 1; EGR1; 136515 FOS-LIKE ANTIGEN 1; FOSL1; 136850 FUMARATE HYDRATASE; FH; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 139500 HAIRY EARS; 147791 JACOBSEN SYNDROME; JBS; 150699 LEIOMYOMA, UTERINE; UL; 152430 LONGEVITY; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 155720 MELANOMA, UVEAL; 160741 MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8; 165550 OPTIC NERVE HYPOPLASIA, BILATERAL; 167870 PANIC DISORDER; 176300 TRANSTHYRETIN; TTR; 177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT; 188550 THYROID CARCINOMA, PAPILLARY; 191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3; 193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 216900 ACHROMATOPSIA 2; ACHM2; 253250 MULIBREY NANISM; 268000 RETINITIS PIGMENTOSA; RP; 300104 GDP DISSOCIATION INHIBITOR 1; GDI1; 300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5; 300438 HYDROXYL-CoA DEHYDROGENASE DEFICIENCY; 304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1; 425500 HAIRY EARS, Y-LINKED; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600132 RETINITIS PIGMENTOSA 14; RP14; 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3; 600282 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 4; GRIK4; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1; 600725 SONIC HEDGEHOG; SHH; 600826 CHONDROITIN SULFATE PROTEOGLYCAN 3; CSPG3; 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT; 601365 DISHEVELLED 1; DVL1; 601483 PATERNALLY EXPRESSED GENE 3; PEG3; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5; 601886 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 2; ASCL2; 601999 LIM HOMEOBOX GENE 1; LHX1; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602243 CD151 ANTIGEN; CD151; 602280 TUBBY-LIKE PROTEIN 1; TULP1; 602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9; 603313 ALG10, S. CEREVISIAE, HOMOLOG OF; ALG10; 604850 COP9, SUBUNIT 5; COPS5; 605185 DELTA-LIKE 4; DLL4; 605565 RESISTIN; RETN; 605636 MATERNALLY EXPRESSED GENE 3; MEG3; 605721 JUNCTION ADHESION MOLECULE 1; JAM1; 605872 CD209 ANTIGEN-LIKE; CD209L; 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4; 606110 LYNX1, MOUSE, HOMOLOG OF; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 606582 DELTA-LIKE 1; DLL1; 607117 MCPH1 GENE; 608486 METASTASIS SUPPRESSOR 1; MTSS1; 608606 BASIC HELIX-LOOP-HELIX PROTEIN MIST1; 608837 CARNEY COMPLEX VARIANT; 609153 PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; Clinical Synopsis for 309600 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

January 7, 2005
New Entries:: 300517 SPINDLIN FAMILY, MEMBER 2; SPIN2; 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY,; 609149 SOLUTE CARRIER FAMILY 29 (MONOAMINE TRANSPORTER), MEMBER 4; SLC29A4; 609150 CXXC FINGER PROTEIN 1; CXXC1; 609151 SOCIUS; Clinical Synopsis for 609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3; Clinical Synopsis for 609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE
Changed Entries:: 105830 ANGELMAN SYNDROME; AS; 118444 CHOLECYSTOKININ A RECEPTOR; CCKAR; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 131240 ENDOTHELIN 1; EDN1; 156535 METHYL-CpG-BINDING DOMAIN PROTEIN 1; MBD1; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 165370 RAS HOMOLOG GENE FAMILY, MEMBER B; ARHB; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176263 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE; SRC; 229000 PREKALLIKREIN DEFICIENCY; 248310 MALARIA, INTENSITY OF INFECTION IN; 277580 WAARDENBURG-SHAH SYNDROME; 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2; 306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602229 SRY-BOX 10; SOX10; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1; 605204 TORSIN-A; DYT1; 605657 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 11; FBXL11; 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4; 606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5;; 606680 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 6;; 607044 T-BOX 24; 607790 CXXC FINGER PROTEIN 6; CXXC6; 608044 SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8; 608707 CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON; 609078 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10; 609148 MALARIA, MILD, SUSCEPTIBILITY TO; Clinical Synopsis for 108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5; Clinical Synopsis for 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1; Clinical Synopsis for 225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE; Clinical Synopsis for 254130 MIYOSHI MYOPATHY; MM; Clinical Synopsis for 605361 SPINOCEREBELLAR ATAXIA 14; SCA14; Clinical Synopsis for 607136 SPINOCEREBELLAR ATAXIA 17; SCA17

January 6, 2005
New Entries:: 609143 TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM; 609144 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR; 609145 NEUROFASCIN; 609146 RIC8, C. ELEGANS, HOMOLOG OF, A; 609147 RIC8, C. ELEGANS, HOMOLOG OF, B; 609148 MALARIA, MILD, SUSCEPTIBILITY TO
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1; 119580 BLEPHAROCHEILODONTIC SYNDROME; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 136760 FRONTONASAL DYSPLASIA; 145500 HYPERTENSION, ESSENTIAL; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 191160 TUMOR NECROSIS FACTOR; TNF; 248310 MALARIA, INTENSITY OF INFECTION IN; 269880 SHORT SYNDROME; 277700 WERNER SYNDROME; WRN; 300438 HYDROXYL-CoA DEHYDROGENASE DEFICIENCY; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 590035 TRANSFER RNA, MITOCHONDRIAL, GLYCINE; MTTG; 590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI; 600140 CREB-BINDING PROTEIN; CREBBP; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1; 600426 E2F TRANSCRIPTION FACTOR 2; E2F2; 600465 ANKYRIN 3; ANK3; 601129 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8; CYP2C8; 601541 BROMODOMAIN-CONTAINING PROTEIN 3; BRD3; 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604861 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; LATS2; 608272 NEURAMINIDASE 1; NEU1; 609056 AMISH INFANTILE EPILEPSY SYNDROME

January 5, 2005
New Entries:: 609137 RECEPTOR-TRANSPORTING PROTEIN 1; 609138 RECEPTOR-TRANSPORTING PROTEIN 2; 609139 RECEPTOR EXPRESSION-ENHANCING PROTEIN 1; 609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2; 609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3; 609142 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 3; CEACAM3
Changed Entries:: 102720 DIPEPTIDYL PEPTIDASE IV; DPP4; 106150 ANGIOTENSIN I; AGT; 109770 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1; 112205 CD79A ANTIGEN; CD79A; 114890 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5; CEACAM5; 120252 COLLAGEN, TYPE VIII, ALPHA-2; COL8A2; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1; 133430 ESTROGEN RECEPTOR 1; ESR1; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL; 145500 HYPERTENSION, ESSENTIAL; 151100 LEOPARD SYNDROME; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 163950 NOONAN SYNDROME 1; NS1; 163980 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6; 170280 PERFORIN 1; PRF1; 176263 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 190685 DOWN SYNDROME; 212138 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER; 256000 LEIGH SYNDROME; LS; 259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600885 MOVED TO 251260; 601047 CAVEOLIN 1; CAV1; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1; 602322 TELOMERASE RNA COMPONENT; TERC; 602533 ONCOGENE DJ1; 602544 PARKIN; PARK2; 602861 PLAKOPHILIN 2; PKP2; 604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES; 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1; Clinical Synopsis for 600885 MOVED TO 251260

January 4, 2005
New Entries:: 300516 ATPase, CLASS VI, TYPE 11C; ATP11C; 609128 ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2; 609133 FLT3-INTERACTING ZINC FINGER PROTEIN 1; FIZ1; 609134 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; 609135 APLASTIC ANEMIA
Changed Entries:: 106300 ANKYLOSING SPONDYLITIS; 108120 DISTAL ARTHROGRYPOSIS, TYPE 1; DA1; 108130 MOVED TO 601680; 108140 MOVED TO 601680; 108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5; 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 114300 GORDON SYNDROME; 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; 126391 LIGASE I, DNA, ATP-DEPENDENT; LIG1; 131240 ENDOTHELIN 1; EDN1; 131243 ENDOTHELIN RECEPTOR, TYPE A; EDNRA; 134770 FERRITIN HEAVY CHAIN 1; FTH1; 147570 INTERFERON, GAMMA; IFNG; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 154270 MALIC ENZYME 2; ME2; 158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 165162 ONCOGENE JUN-D; JUND; 178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT; 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 180901 RYANODINE RECEPTOR 1; RYR1; 185620 SURFEIT 1; SURF1; 193700 FREEMAN-SHELDON SYNDROME; FSS; 213300 JOUBERT SYNDROME 1; JBTS1; 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC; 300061 ZINC FINGER PROTEIN 261; ZNF261; 300121 DOUBLECORTIN; DCX; 300159 THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X; 300401 PROTEOLIPID PROTEIN 1; PLP1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1; 600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600346 ZINC FINGER PROTEIN 144; ZNF144; 600685 KARYOPHERIN ALPHA-2; KPNA2; 600846 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4; 601241 HISTONE DEACETYLASE 1; HDAC1; 601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I; 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; 602045 RING FINGER PROTEIN 1; RING1; 602322 TELOMERASE RNA COMPONENT; TERC; 602366 INTEGRIN-LINKED KINASE; ILK; 602567 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 1; LIMS1; 602780 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 604312 CYSTATIN 3; CST3; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 605164 HISTONE DEACETYLASE 2; HDAC2; 605239 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4; 605314 HISTONE DEACETYLASE 4; HDAC4; 605821 ERYTHROID-ASSOCIATED FACTOR; ERAF; 606157 PANTOTHENATE KINASE 2; PANK2; 607116 ALZHEIMER DISEASE 8; 607326 SMITH-MCCORT DYSPLASIA; SMC; 607763 CENTAURIN, BETA-1; CENTB1; 608851 EXORIBONUCLEASE 2; XRN2; 608985 RING FINGER PROTEIN 2; RNF2; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609127 MOVED TO 300516; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2

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OMIM Update List for January, 2005

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