OMIM Update List for March, 2008

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Nucleotide

Protein

Genome

OMIM Update List for March, 2008

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March 31, 2008
New Entries:: 611907 EPISODIC ATAXIA, TYPE 7; EA7; 611927 FAMILY WITH SEQUENCE SIMILARITY, MEMBER H; FAM83H
Changed Entries:: 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 107323 ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1; 130900 AMELOGENESIS IMPERFECTA, TYPE 3; AI3; 137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2; 142445 NEUREGULIN 1; NRG1; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 160120 EPISODIC ATAXIA, TYPE 1; EA1; 160200 MOVED TO 161800; 161800 NEMALINE MYOPATHY 3; NEM3; 173460 PLATELET FACTOR 4; PF4; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; 600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 602544 PARKIN; PARK2; 603219 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2

March 28, 2008
New Entries:: 611926 IMMUNODEFICIENCY, GONADAL DYSGENESIS, AND PULMONARY FIBROSIS
Changed Entries:: 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 122700 COUMARIN RESISTANCE; 134640 FATTY ACID-BINDING PROTEIN 2; FABP2; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 176700 PROGNATHISM, MANDIBULAR; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1; 219800 CYSTINOSIS, NEPHROPATHIC; CTNS; 277000 ROKITANSKY-KUSTER-HAUSER SYNDROME; 309550 FMR1 GENE; FMR1; 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP; 601990 TUMOR PROTEIN p73; TP73; 608115 OVARIAN HYPERSTIMULATION SYNDROME; 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1; 608777 PERIOSTIN; POSTN; 608877 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, D; VPS13D; 609791 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6A; LRRN6A; Clinical Synopsis for 109150 MACHADO-JOSEPH DISEASE; MJD

March 27, 2008
New Entries:: 611921 GAP JUNCTION PROTEIN, BETA-7; GJB7; 611922 GAP JUNCTION PROTEIN, DELTA-4; GJD4; 611923 GAP JUNCTION PROTEIN, ALPHA-9; GJA9; 611924 GAP JUNCTION PROTEIN, ALPHA-10; GJA10; 611925 GAP JUNCTION PROTEIN, GAMMA-3; GJC3
Changed Entries:: 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 147796 JANUS KINASE 2; JAK2; 164860 MET PROTOONCOGENE; MET; 167800 PANCREATITIS, HEREDITARY; PCTT; 173510 CD36 ANTIGEN; CD36; 185480 SUPRABULBAR PARESIS, CONGENITAL; 214800 CHARGE SYNDROME; 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I; 251255 MICROCEPHALY WITH DIGITAL ANOMALIES; 300257 DANON DISEASE; 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP; 302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600554 INTERLEUKIN 15; IL15; 601405 CHYMOTRYPSIN C; CTRC; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 604491 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB; 605312 GROWTH/DIFFERENTIATION FACTOR 15; GDF15; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 609558 PROSTATE CANCER, HEREDITARY, 6; 610876 HECT DOMAIN- AND ANKYRIN REPEAT-CONTAINING E3 UBIQUITIN PROTEIN LIGASE; 611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6; Clinical Synopsis for 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; Clinical Synopsis for 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

March 26, 2008
New Entries:: 611920 C-REACTIVE PROTEIN QUANTITATIVE TRAIT LOCUS
Changed Entries:: 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; 134797 FIBRILLIN 1; FBN1; 139320 GNAS COMPLEX LOCUS; GNAS; 148021 KERATIN ASSOCIATED PROTEIN 5-9; KRTAP5-9; 148022 KERATIN-ASSOCIATED PROTEIN 5-1; KRTAP5-1; 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; 173650 KINDLER SYNDROME; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1; 262650 PITUITARY DWARFISM IV; 300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 300255 O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT; 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1; 300694 MICRO RNA 223; MIRN223; 303600 COFFIN-LOWRY SYNDROME; CLS; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1; 600064 KERATIN-ASSOCIATED PROTEIN 11-1; KRTAP11-1; 600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2; 600185 BRCA2 GENE; BRCA2; 600194 KERATIN 2; KRT2; 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C; 600663 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE D; MEF2D; 600725 SONIC HEDGEHOG; SHH; 601077 KERATIN 31; KRT31; 601078 KERATIN 82; KRT82; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601893 TRIPLE FUNCTIONAL DOMAIN; TRIO; 601928 KERATIN 86; KRT86; 602153 KERATIN 81; KRT81; 602617 FORKHEAD BOX E1; FOXE1; 602760 KERATIN 32; KRT32; 602761 KERATIN 33A; KRT33A; 602762 KERATIN 33B; KRT33B; 602763 KERATIN 34; KRT34; 602764 KERATIN 35; KRT35; 602765 KERATIN 83; KRT83; 602766 KERATIN 84; KRT84; 602767 KERATIN 85; KRT85; 603148 ACTIVATING TRANSCRIPTION FACTOR 3; ATF3; 603275 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, ALPHA; PIP5K1A; 603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4; 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 604540 KERATIN 36; KRT36; 604541 KERATIN 37; KRT37; 604542 KERATIN 38; KRT38; 604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS; 604605 KALIRIN; KALRN; 605096 TRANSMEMBRANE PROTEIN 16G; TMEM16G; 607108 PAIRED BOX GENE 6; PAX6; 607746 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 2; FERMT2; 607900 FERMITIN FAMILY HOMOLOG 1; FERMT1; 607901 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 3; FERMT3; 608274 PROTEIN ARGININE N-METHYLTRANSFERASE 6; PRMT6; 609025 KERATIN 75; KRT75; 609424 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING 1; RC3H1; 609658 NLR FAMILY, PYRIN-DOMAIN CONTAINING 5; NLRP5; 610641 TERMINAL URIDYLYL TRANSFERASE 1, U6 snRNA-SPECIFIC; TUT1; 611160 KERATIN 79; KRT79

March 25, 2008
New Entries:: 611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72; 611919 MYC-ASSOCIATED PROTEIN WITH JMJC DOMAIN
Changed Entries:: 105590 ANAPLASTIC LYMPHOMA KINASE; ALK; 126431 TOPOISOMERASE, DNA, II, BETA; TOP2B; 133430 ESTROGEN RECEPTOR 1; ESR1; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 142720 HISTONE CLUSTER 2, H2AA3; HIST2H2AA3; 142750 HISTONE CLUSTER 2, H4A; HIST2H4A; 142780 HISTONE CLUSTER 2, H3C; HIST2H3C; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 146661 INTERLEUKIN 7 RECEPTOR; IL7R; 168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1; 176400 PRECOCIOUS PUBERTY, CENTRAL; 176807 PROSTATE CANCER; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 211980 LUNG CANCER; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300100 ADRENOLEUKODYSTROPHY; ALD; 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600349 INHIBITOR OF DNA BINDING 1; ID1; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601364 CADHERIN 13; CDH13; 601826 DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD; 601831 HISTONE CLUSTER 2, H2BE; HIST2H2BE; 601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1; 602797 HISTONE CLUSTER 2, H2AC; HIST2H2AC; 602822 HISTONE 1, H4A; HIST1H4A; 603390 PHOSPHODIESTERASE 8B; PDE8B; 604161 G PROTEIN-COUPLED RECEPTOR 54; GPR54; 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 606127 MYOCARDIN; MYOCD; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607619 FERM DOMAIN-CONTAINING 3; FRMD3; 609078 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2; 609595 R-SPONDIN FAMILY, MEMBER 1; RSPO1; 610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1; 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND; 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8; 611731 APC GENE; 611915 EGFR-COAMPLIFIED AND OVEREXPRESSED PROTEIN; 611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72

March 24, 2008
New Entries:: 611914 TSC22 DOMAIN FAMILY, MEMBER 4; TSC22D4; 611915 EGFR-COAMPLIFIED AND OVEREXPRESSED PROTEIN; 611916 COLLAGEN, TYPE XXIX, ALPHA-1; COL29A1; 611917 JUMONJI DOMAIN-CONTAINING PROTEIN 5; JMJD5
Changed Entries:: 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 114610 CANNABINOID RECEPTOR 1; CNR1; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 119530 OROFACIAL CLEFT 1; OFC1; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 131340 PRODYNORPHIN; PDYN; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 146300 HYPOPHOSPHATASIA, ADULT; 155970 MEMBRANE GLYCOPROTEIN MRC OX-2; MOX2; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 173390 PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 2; PAI2; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 176270 PRADER-WILLI SYNDROME; PWS; 176730 INSULIN; INS; 180860 SILVER-RUSSELL SYNDROME; SRS; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 193210 INTEGRIN, ALPHA-V; ITGAV; 232200 GLYCOGEN STORAGE DISEASE I; 253200 MUCOPOLYSACCHARIDOSIS TYPE VI; 276300 MISMATCH REPAIR CANCER SYNDROME; 600807 ASTHMA, SUSCEPTIBILITY TO; 601935 G PROTEIN PATHWAY SUPPRESSOR 2; GPS2; 602623 FK506-BINDING PROTEIN 5; FKBP5; 602769 DNA METHYLTRANSFERASE 3A; DNMT3A; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 602969 ESTROGEN-RELATED RECEPTOR, GAMMA; ESRRG; 603906 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 1; CLCA1; 603946 HELICASE, LYMPHOID-SPECIFIC; HELLS; 605290 OPA1 GENE; OPA1; 607715 TSC22 DOMAIN FAMILY, MEMBER 1; TSC22D1; 608228 NANOS, DROSOPHILA, HOMOLOG OF, 2; 608777 PERIOSTIN; POSTN; 610376 CHEMOKINE, CXC MOTIF, RECEPTOR 7; CXCR7; 610704 PROHIBITIN 2; PHB2; 610782 MICRO RNA 29A; MIRN29A; 610783 MICRO RNA 29B1; MIRN29B1; 610784 MICRO RNA 29C; MIRN29C; Clinical Synopsis for 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

March 21, 2008
New Entries:: 611913 AUTISM, SUSCEPTIBILITY TO, 14; AUTS14
Changed Entries:: 107730 APOLIPOPROTEIN B; APOB; 125263 SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER; 147683 INTERLEUKIN 13; IL13; 147780 INTERLEUKIN 4; IL4; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2; ETS2; 176763 PEROXIREDOXIN 1; PRDX1; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 190685 DOWN SYNDROME; 191170 TUMOR PROTEIN p53; TP53; 209850 AUTISM; 300119 INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1; 300334 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 5;; 308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2; 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1; 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 603485 NITROGEN FIXATION GENE 1; NFS1; 603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB; 605209 CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR; 605286 CALPAIN 10; CAPN10; 610957 TYROSYL-tRNA SYNTHETASE 2; YARS2; 611035 CHROMOSOME 2 OPEN READING FRAME 13; C2ORF13; 611873 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER C; FAM82C; 611911 IRON-SULFUR CLUSTER SCAFFOLD, E. COLI, HOMOLOG OF; ISCU

March 20, 2008
New Entries:: 611909 FIBRONECTIN DOMAIN III-CONTAINING PROTEIN 3B; FNDC3B; 611912 NUCLEAR CASEIN KINASE AND CYCLIN-DEPENDENT KINASE SUBSTRATE 1; NUCKS1; Clinical Synopsis for 611040 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS,
Changed Entries:: 100880 ACONITASE, SOLUBLE; ACO1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 114180 CALMODULIN 1; CALM1; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 142440 HEPSIN; HPN; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2; 189906 TRANSCRIPTION FACTOR Sp1; SP1; 208050 ARTERIAL TORTUOSITY SYNDROME; ATS; 211980 LUNG CANCER; 261600 PHENYLKETONURIA; 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A; 600140 CREB-BINDING PROTEIN; CREBBP; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601663 ESTROGEN RECEPTOR 2; ESR2; 602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2; 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;; 602700 E1A-BINDING PROTEIN, 300-KD; EP300; 603485 NITROGEN FIXATION GENE 1; NFS1; 604167 CCCTC-BINDING FACTOR; CTCF; 604359 STROMAL ANTIGEN 2; STAG2; 604834 TANK-BINDING KINASE 1; TBK1; 605236 CORIN; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3; 606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 606462 RAD21, S. POMBE, HOMOLOG OF; RAD21; 606751 TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5; 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1; 609148 MALARIA, MILD, SUSCEPTIBILITY TO; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 611040 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS,; 611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3; 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2; 611911 IRON-SULFUR CLUSTER SCAFFOLD, E. COLI, HOMOLOG OF; ISCU

March 19, 2008
New Entries:: 611903 ZINC FINGER PROTEIN 649; ZNF649; 611905 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 4; FNDC4; 611906 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; FNDC5; 611908 RFT1, S. CEREVISIAE, HOMOLOG OF; RFT1; 611910 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 611911 IRON-SULFUR CLUSTER SCAFFOLD, E. COLI, HOMOLOG OF; ISCU; Clinical Synopsis for 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; Clinical Synopsis for 300652 ANGIOMA SERPIGINOSUM, X-LINKED; Clinical Synopsis for 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY; Clinical Synopsis for 300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; Clinical Synopsis for 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY; Clinical Synopsis for 610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; Clinical Synopsis for 611022 DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24; Clinical Synopsis for 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2; Clinical Synopsis for 611390 ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE; SPAX3; Clinical Synopsis for 611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY; Clinical Synopsis for 611603 LISSENCEPHALY 3; LIS3; Clinical Synopsis for 611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4; Clinical Synopsis for 611637 PRIMARY LATERAL SCLEROSIS, ADULT; Clinical Synopsis for 611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 117210 SPINOCEREBELLAR ATAXIA, 16q22-LINKED; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 130620 RIBOSOMAL PROTEIN S14; RPS14; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 137920 RENAL CYSTS AND DIABETES SYNDROME; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 138945 GRANULIN; GRN; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 143100 HUNTINGTON DISEASE; HD; 144700 RENAL CELL CARCINOMA 1; RCC1; 146900 IgA CONSTANT HEAVY CHAIN 1; IGHA1; 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 153550 CHROMOSOME 5q DELETION SYNDROME; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 161950 IgA NEPHROPATHY 1; IGAN1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 166760 OTITIS MEDIA, SUSCEPTIBILITY TO; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 176807 PROSTATE CANCER; 176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1; 176941 PROTEIN-TYROSINE KINASE 2; TYK2; 181500 SCHIZOPHRENIA; SCZD; 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; 186355 SYNDECAN 1; SDC1; 189907 HNF1 HOMEOBOX B; HNF1B; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL; 218040 COSTELLO SYNDROME; 231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS; 243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE; 244400 KARTAGENER SYNDROME; 270100 SITUS INVERSUS VISCERUM; 300527 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 10; NUDT10; 300528 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 11; NUDT11; 300593 SPERM ACROSOME-ASSOCIATED PROTEIN 5; SPACA5; 300601 G ANTIGEN 7; GAGE7; 300654 FATTY ACID AMIDE HYDROLASE 2; FAAH2; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 600118 WARBURG MICRO SYNDROME; WARBM; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602533 ONCOGENE DJ1; 602536 RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1; 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11; 603550 EYES ABSENT 4; EYA4; 604277 SPG4 GENE; SPG4; 604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3; 604906 SCHIZOPHRENIA 9; SCZD9; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605290 OPA1 GENE; OPA1; 605448 RUN DOMAIN-CONTAINING 3A; RUNDC3A; 605925 PERICENTRIN 2; PCNT2; 607873 SCAVENGER RECEPTOR CLASS F, MEMBER 1; SCARF1; 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; 608543 SCHIZOPHRENIA 12; 608574 EMSY GENE; 608590 MOVED TO 608358; 608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7; 609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1; 610402 ANEURYSM, INTRACRANIAL BERRY, 5; 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3; 611040 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS,; 611134 MECKEL SYNDROME, TYPE 4; MKS4; 611450 PXK DOMAIN-CONTAINING SERINE/THREONINE KINASE; PXK; 611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY; 611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3; 611551 FIBULIN 7; FBLN7; 611552 NICOTINATE PHOSPHORIBOSYLTRANSFERASE DOMAIN-CONTAINING 1; NAPRT1; 611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE; 611557 UROPLAKIN 1A; UPK1A; 611558 UROPLAKIN 2; UPK2; 611559 UROPLAKIN 3A; UPK3A; 611581 MOVED TO 601067; 611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA; 611785 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 5; ABCB5; 611860 SECKEL SYNDROME 4; SCKL4; 611884 CILIARY DYSKINESIA, PRIMARY, 7; 611890 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD; 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3; 611892 ANEURYSM, INTRACRANIAL BERRY, 6; 611893 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 2;; 611894 MICRO RNA 140; MIRN140; 611896 RETROTRANSPOSON-LIKE GENE 1; RTL1; 611899 MICRO RNA 203; MIRN203; 611903 ZINC FINGER PROTEIN 649; ZNF649; 611906 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; FNDC5; Clinical Synopsis for 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT; Clinical Synopsis for 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; Clinical Synopsis for 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1; Clinical Synopsis for 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; Clinical Synopsis for 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2; Clinical Synopsis for 163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; Clinical Synopsis for 167400 PAROXYSMAL EXTREME PAIN DISORDER; Clinical Synopsis for 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Clinical Synopsis for 176450 CURRARINO SYNDROME; Clinical Synopsis for 182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1; Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS; Clinical Synopsis for 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A; Clinical Synopsis for 203800 ALSTROM SYNDROME; ALMS; Clinical Synopsis for 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A; Clinical Synopsis for 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A; Clinical Synopsis for 217090 PLASMINOGEN DEFICIENCY, TYPE I; Clinical Synopsis for 218040 COSTELLO SYNDROME; Clinical Synopsis for 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; Clinical Synopsis for 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; Clinical Synopsis for 253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B; Clinical Synopsis for 255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD; Clinical Synopsis for 258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; Clinical Synopsis for 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI; Clinical Synopsis for 273750 THREE M SYNDROME; Clinical Synopsis for 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13; Clinical Synopsis for 309400 MENKES DISEASE; Clinical Synopsis for 601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Clinical Synopsis for 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; Clinical Synopsis for 601846 VACUOLAR NEUROMYOPATHY; Clinical Synopsis for 603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C; Clinical Synopsis for 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; Clinical Synopsis for 603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F; Clinical Synopsis for 607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7; Clinical Synopsis for 608358 MYOPATHY, MYOSIN STORAGE; Clinical Synopsis for 608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F; Clinical Synopsis for 608590 MOVED TO 608358; Clinical Synopsis for 608902 DRUG METABOLISM, POOR, CYP2D6-RELATED; Clinical Synopsis for 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4

March 18, 2008
New Entries:: 400043 DEAFNESS, Y-LINKED 1; DFNY1; 611897 NANOPHTHALMOS 3; NNO3; 611898 ENDO-BETA-N-ACETYLGLUCOSAMINIDASE; 611900 METALLOPHOSPHOESTERASE 1; MPPE1; 611901 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 1; VWA1; 611902 COILED-COIL DOMAIN-CONTAINING PROTEIN 136; CCDC136; 611904 CHROMOSOME 11 OPEN READING FRAME 34; C11ORF34
Changed Entries:: 107941 ARRESTIN, BETA, 2; ARRB2; 116806 CATENIN, BETA-1; CTNNB1; 135600 FIBRONECTIN 1; FN1; 137215 GASTRIC CANCER; 137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; 164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;; 167420 PAIRED-RELATED HOMEOBOX GENE 1; PRRX1; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 242650 PRIMARY CILIARY DYSKINESIA; PCD; 276900 USHER SYNDROME, TYPE I; 300030 DEAFNESS, X-LINKED 3; DFNX3; 300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4; 300066 DEAFNESS, X-LINKED 4; DFNX4; 300143 MENTAL RETARDATION, X-LINKED 21; MRX21; 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1; 300386 CD40 LIGAND; CD40LG; 300614 DEAFNESS, X-LINKED 5; DFNX5; 304400 DEAFNESS, X-LINKED 2; DFNX2; 304500 DEAFNESS, X-LINKED 1; DFNX1; 600165 NANOPHTHALMOS 1; NNO1; 600230 PHOSPHOLIPASE C, BETA-3; PLCB3; 600286 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, ALPHA; PI4KA; 600576 GATA-BINDING PROTEIN 4; GATA4; 601067 USHER SYNDROME, TYPE ID; USH1D; 601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT; 601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; 602083 USHER SYNDROME, TYPE IF; USH1F; 602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 604043 NEVER IN MITOSIS GENE A-RELATED KINASE 2; NEK2; 605514 PROTOCADHERIN 15; PCDH15; 605516 CADHERIN 23; CDH23; 609549 NANOPHTHALMOS 2; NNO2; 609763 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, ALPHA; PI4K2A; 610597 GLUTAMATE-RICH WD REPEAT-CONTAINING PROTEIN 1; GRWD1; 611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2; 611581 MOVED TO 601067; 611818 LONG QT SYNDROME 9; LQT9; 611900 METALLOPHOSPHOESTERASE 1; MPPE1; 611902 COILED-COIL DOMAIN-CONTAINING PROTEIN 136; CCDC136; Clinical Synopsis for 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; Clinical Synopsis for 243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE; Clinical Synopsis for 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; Clinical Synopsis for 308350 INFANTILE SPASM SYNDROME, X-LINKED; Clinical Synopsis for 602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS

March 17, 2008
New Entries:: 611884 CILIARY DYSKINESIA, PRIMARY, 7; 611899 MICRO RNA 203; MIRN203
Changed Entries:: 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1; 118930 SECRETOGRANIN II; SCG2; 118946 CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR; 137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 184745 KIT LIGAND; KITLG; 222690 DIBASIC AMINO ACIDURIA I; 222700 LYSINURIC PROTEIN INTOLERANCE; LPI; 242650 PRIMARY CILIARY DYSKINESIA; PCD; 244400 KARTAGENER SYNDROME; 300658 NDP GENE; NDP; 305660 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3; GABRA3; 310490 COWCHOCK SYNDROME; 600395 GLYPICAN 1; GPC1; 602282 ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2; 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),; 603611 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10A; TNFRSF10A; 603612 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2; 611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7; 611884 CILIARY DYSKINESIA, PRIMARY, 7; 611899 MICRO RNA 203; MIRN203; Clinical Synopsis for 154020 HYPOMAGNESEMIA 2, RENAL; HOMG2; Clinical Synopsis for 248250 HYPOMAGNESEMIA 3, RENAL; HOMG3; Clinical Synopsis for 256550 NEURAMINIDASE DEFICIENCY; Clinical Synopsis for 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; Clinical Synopsis for 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG

March 14, 2008
New Entries:: 611894 MICRO RNA 140; MIRN140; 611896 RETROTRANSPOSON-LIKE GENE 1; RTL1; Clinical Synopsis for 604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; Clinical Synopsis for 605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE; Clinical Synopsis for 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; Clinical Synopsis for 609220 BRUCK SYNDROME 2; Clinical Synopsis for 609924 AMINOACYLASE 1 DEFICIENCY; Clinical Synopsis for 610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2; Clinical Synopsis for 610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2; Clinical Synopsis for 610532 HYPOMYELINATION AND CONGENITAL CATARACT; Clinical Synopsis for 610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3; Clinical Synopsis for 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3; Clinical Synopsis for 611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY; Clinical Synopsis for 611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5; Clinical Synopsis for 611721 COMBINED SAPOSIN DEFICIENCY; Clinical Synopsis for 611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; Clinical Synopsis for 611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3; EPM3; Clinical Synopsis for 611808 TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS;; Clinical Synopsis for 611816 TEMPLE-BARAITSER SYNDROME
Changed Entries:: 109135 AXL RECEPTOR TYROSINE KINASE; AXL; 120550 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE; C1QA; 120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE; C1QB; 171790 PHOSPHATASE, PROSTATE-SPECIFIC ACID; ACPP; 176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1; 209900 BARDET-BIEDL SYNDROME; BBS; 209901 BBS1 GENE; BBS1; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3; 600431 CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B; 601530 SEQUESTOSOME 1; SQSTM1; 604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK; 605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE; 605314 HISTONE DEACETYLASE 4; HDAC4; 605386 MICRO RNA LET7A1; MIRNLET7A1; 605393 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1B; JARID1B; 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; 609220 BRUCK SYNDROME 2; 610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2; 610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3; 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3; 611896 RETROTRANSPOSON-LIKE GENE 1; RTL1; Clinical Synopsis for 100300 ADAMS-OLIVER SYNDROME; AOS; Clinical Synopsis for 101400 SAETHRE-CHOTZEN SYNDROME; SCS; Clinical Synopsis for 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING; Clinical Synopsis for 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1; Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1; Clinical Synopsis for 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1; Clinical Synopsis for 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; Clinical Synopsis for 147791 JACOBSEN SYNDROME; JBS; Clinical Synopsis for 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; Clinical Synopsis for 156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1; Clinical Synopsis for 157100 MICROPHTHALMIA, PIGMENTARY RETINOPATHY, CATARACT, AND GLAUCOMA; Clinical Synopsis for 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; Clinical Synopsis for 160500 MYOPATHY, DISTAL 1; MPD1; Clinical Synopsis for 165500 OPTIC ATROPHY 1; OPA1; Clinical Synopsis for 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; Clinical Synopsis for 191900 MUCKLE-WELLS SYNDROME; Clinical Synopsis for 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Clinical Synopsis for 229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; Clinical Synopsis for 232300 GLYCOGEN STORAGE DISEASE II; Clinical Synopsis for 249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY; Clinical Synopsis for 251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME; Clinical Synopsis for 259450 BRUCK SYNDROME 1; Clinical Synopsis for 276300 MISMATCH REPAIR CANCER SYNDROME; Clinical Synopsis for 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; Clinical Synopsis for 301845 BAZEX SYNDROME; BZX; Clinical Synopsis for 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; Clinical Synopsis for 601543 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12; DFNA12; Clinical Synopsis for 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG; Clinical Synopsis for 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4; Clinical Synopsis for 606693 KUFOR-RAKEB SYNDROME; KRS; Clinical Synopsis for 607060 PARKINSON DISEASE 8; PARK8; Clinical Synopsis for 607364 BARTTER SYNDROME, TYPE 3; Clinical Synopsis for 607631 EPILEPSY, JUVENILE ABSENCE; JAE; Clinical Synopsis for 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION

March 13, 2008
New Entries:: 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3; 611892 ANEURYSM, INTRACRANIAL BERRY, 6; 611893 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 2;; Clinical Synopsis for 156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; Clinical Synopsis for 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF
Changed Entries:: 100070 AORTIC ANEURYSM, ABDOMINAL; 100300 ADAMS-OLIVER SYNDROME; AOS; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA; 156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 186357 SYNDECAN 3; SDC3; 209900 BARDET-BIEDL SYNDROME; BBS; 209901 BBS1 GENE; BBS1; 252500 MUCOLIPIDOSIS II ALPHA/BETA; 252600 MUCOLIPIDOSIS III ALPHA/BETA; 252605 MUCOLIPIDOSIS III GAMMA; 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM; 276300 MISMATCH REPAIR CANCER SYNDROME; 300161 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3; 300490 SH2 DOMAIN PROTEIN 1A; SH2D1A; 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; 300593 SPERM ACROSOME-ASSOCIATED PROTEIN 5; SPACA5; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 314690 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C; 426000 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 603198 RNA POLYMERASE I AND TRANSCRIPT RELEASE FACTOR; PTRF; 603650 BBS5 GENE; BBS5; 605038 POSTMEIOTIC SEGREGATION INCREASED 2-LIKE 1; PMS2L1; 605393 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1B; JARID1B; 606424 EGL9, C. ELEGANS, HOMOLOG OF, 2; EGLN2; 606992 INOSITOL HEXAPHOSPHATE KINASE 2; IHPK2; 607400 MUCOLIPIN 3; MCOLN3; 607838 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611142 CYTOSKELETON-ASSOCIATED PROTEIN 5; CKAP5; 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH; 611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE; UQCC; 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3; 611892 ANEURYSM, INTRACRANIAL BERRY, 6

March 12, 2008
New Entries:: 611890 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD
Changed Entries:: 103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA; 130900 AMELOGENESIS IMPERFECTA, TYPE 3; AI3; 154705 MOVED TO 610380; 162091 SCHWANNOMATOSIS; 167409 PAIRED BOX GENE 2; PAX2; 170710 PERIPHERIN; PRPH; 176807 PROSTATE CANCER; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2; 208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN; 251450 DESBUQUOIS SYNDROME; DBQD; 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B; 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H; 300459 TENOMODULIN; 300701 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 12; ZCCHC12; 300702 MELANOMA ANTIGEN, FAMILY D, 4; MAGED4; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 602282 ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2; 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32; 603116 CDAGS SYNDROME; 603371 GLE1, S. CEREVISIAE, HOMOLOG-LIKE; GLE1L; 603390 PHOSPHODIESTERASE 8B; PDE8B; 603494 NNX3 PROTEIN; 604394 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12; GNA12; 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13; 604853 MITOCHONDRIAL RIBOSOMAL PROTEIN L28; MRPL28; 606255 STATURE AS A QUANTITATIVE TRAIT; 606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2; 606714 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 1; PNRC1; 607379 NEUROFIBROMIN 2; NF2; 607998 TRIPEPTIDYL PEPTIDASE I; TPP1; 608166 SEMAPHORIN 3E; SEMA3E; 608167 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1; 608169 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 7; KCNH7; 608208 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 4; MARCH4; 608209 DIPEPTIDYL PEPTIDASE X; DPP10; 608211 KIDNEY-ASSOCIATED ANTIGEN 1; KAAG1; 608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM; 608213 BM88 ANTIGEN; 608245 KERATIN 71; KRT71; 608248 KERATIN 74; KRT74; 608267 RAS-RELATED GTP-BINDING PROTEIN C; RRAGC; 608268 RAS-RELATED GTP-BINDING PROTEIN D; RRAGD; 608274 PROTEIN ARGININE N-METHYLTRANSFERASE 6; PRMT6; 608275 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 15;; 608455 GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM; 608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A; 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; 609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 609558 PROSTATE CANCER, HEREDITARY, 6; 610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B; 610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B; 611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6; 611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2; 611840 MITOCHONDRIAL RIBOSOMAL PROTEIN L34; MRPL34; 611841 MITOCHONDRIAL RIBOSOMAL PROTEIN L35; MRPL35; 611842 MITOCHONDRIAL RIBOSOMAL PROTEIN L36; MRPL36; 611843 MITOCHONDRIAL RIBOSOMAL PROTEIN L37; MRPL37; 611844 MITOCHONDRIAL RIBOSOMAL PROTEIN L38; MRPL38; 611845 MITOCHONDRIAL RIBOSOMAL PROTEIN L39; MRPL39; 611846 MITOCHONDRIAL RIBOSOMAL PROTEIN L41; MRPL41; 611847 MITOCHONDRIAL RIBOSOMAL PROTEIN L42; MRPL42; 611848 MITOCHONDRIAL RIBOSOMAL PROTEIN L43; MRPL43; 611849 MITOCHONDRIAL RIBOSOMAL PROTEIN L44; MRPL44; 611850 MITOCHONDRIAL RIBOSOMAL PROTEIN L45; MRPL45; 611851 MITOCHONDRIAL RIBOSOMAL PROTEIN L46; MRPL46; 611852 MITOCHONDRIAL RIBOSOMAL PROTEIN L47; MRPL47; 611853 MITOCHONDRIAL RIBOSOMAL PROTEIN L48; MRPL48; 611854 MITOCHONDRIAL RIBOSOMAL PROTEIN L50; MRPL50; 611855 MITOCHONDRIAL RIBOSOMAL PROTEIN L51; MRPL51; 611856 MITOCHONDRIAL RIBOSOMAL PROTEIN L52; MRPL52; 611857 MITOCHONDRIAL RIBOSOMAL PROTEIN L53; MRPL53; 611858 MITOCHONDRIAL RIBOSOMAL PROTEIN L54; MRPL54; 611859 MITOCHONDRIAL RIBOSOMAL PROTEIN L55; MRPL55; 611870 CENTLEIN; CNTLN; 611871 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER B; FAM82B; 611872 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A; FAM82A; 611873 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER C; FAM82C; 611874 NEURON-DERIVED NEUROTROPHIC FACTOR; NENF; 611875 BRUGADA SYNDROME 3; 611876 BRUGADA SYNDROME 4; 611877 BAI1-ASSOCIATED PROTEIN 2-LIKE 1; BAIAP2L1; 611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y; 611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z; 611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A; 611881 ALDOLASE A DEFICIENCY; 611882 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 2; PNRC2; 611883 BRCA2- AND CDKN1A-INTERACTING PROTEIN; BCCIP; 611885 SHANK-ASSOCIATED RH DOMAIN INTERACTOR; SHARPIN; 611887 UROPLAKIN 3B; UPK3B; 611888 ETS2 REPRESSOR FACTOR; ERF; 611889 S100P-BINDING PROTEIN; S100PBP; Clinical Synopsis for 154020 HYPOMAGNESEMIA 2, RENAL; HOMG2; Clinical Synopsis for 222700 LYSINURIC PROTEIN INTOLERANCE; LPI; Clinical Synopsis for 248190 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT; Clinical Synopsis for 248250 HYPOMAGNESEMIA 3, RENAL; HOMG3; Clinical Synopsis for 606407 HYPOTONIA-CYSTINURIA SYNDROME

March 11, 2008
New Entries:: 300702 MELANOMA ANTIGEN, FAMILY D, 4; MAGED4; 611887 UROPLAKIN 3B; UPK3B; 611888 ETS2 REPRESSOR FACTOR; ERF; 611889 S100P-BINDING PROTEIN; S100PBP
Changed Entries:: 120980 INTEGRIN, ALPHA-M; ITGAM; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 161800 NEMALINE MYOPATHY 3; NEM3; 194070 WILMS TUMOR 1; WT1; 194080 DENYS-DRASH SYNDROME; DDS; 208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES; 219000 FRASER SYNDROME; 223100 LACTASE PERSISTENCE; 243600 JEJUNAL ATRESIA; 243605 JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES; 270100 SITUS INVERSUS VISCERUM; 300132 TROPHININ; TRO; 600614 S100 CALCIUM-BINDING PROTEIN P; S100P; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 607102 WT1 GENE; WT1; 607987 ENDOPLASMIC RETICULUM RESIDENT PROTEIN ERDJ5; 607998 TRIPEPTIDYL PEPTIDASE I; TPP1; 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2; 608978 MEACHAM SYNDROME; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1; 610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B; 611559 UROPLAKIN 3A; UPK3A; 611613 KDEL MOTIF-CONTAINING 1; KDELC1

March 10, 2008
New Entries:: 611885 SHANK-ASSOCIATED RH DOMAIN INTERACTOR; SHARPIN; 611886 MESOMELIC DYSPLASIA, CAMERA TYPE
Changed Entries:: 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1; 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 134797 FIBRILLIN 1; FBN1; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 181500 SCHIZOPHRENIA; SCZD; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3; 224300 DYSOSTEOSCLEROSIS; 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT; 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE; 300139 IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1; 300401 PROTEOLIPID PROTEIN 1; PLP1; 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 601190 PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA; PDE6H; 601253 CAVEOLIN 3; CAV3; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1; 602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603390 PHOSPHODIESTERASE 8B; PDE8B; 603398 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 1; WISP1; 604061 SEPTIN 9; SEPT9; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2; 606407 HYPOTONIA-CYSTINURIA SYNDROME; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607108 PAIRED BOX GENE 6; PAX6; 609062 POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; POU6F2; 609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A; 610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B; 610389 MAPBP-INTERACTING PROTEIN; 611886 MESOMELIC DYSPLASIA, CAMERA TYPE; Clinical Synopsis for 212750 CELIAC DISEASE; CD; Clinical Synopsis for 222700 LYSINURIC PROTEIN INTOLERANCE; LPI; Clinical Synopsis for 227600 FACTOR X DEFICIENCY; Clinical Synopsis for 252605 MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; Clinical Synopsis for 606407 HYPOTONIA-CYSTINURIA SYNDROME; Clinical Synopsis for 609425 3q29 MICRODELETION SYNDROME; Clinical Synopsis for 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY

March 9, 2008
Changed Entries:: Clinical Synopsis for 227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS; Clinical Synopsis for 244300 KAPUR-TORIELLO SYNDROME; Clinical Synopsis for 260130 PACHYONYCHIA CONGENITA, RECESSIVE; Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME

March 8, 2008
Changed Entries:: Clinical Synopsis for 167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1; Clinical Synopsis for 204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; Clinical Synopsis for 207950 CHIARI MALFORMATION TYPE II; Clinical Synopsis for 222470 TRICHOHEPATOENTERIC SYNDROME; Clinical Synopsis for 224300 DYSOSTEOSCLEROSIS; Clinical Synopsis for 252605 MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; Clinical Synopsis for 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE

March 7, 2008
New Entries:: 611808 TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS;; 611816 TEMPLE-BARAITSER SYNDROME; 611882 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 2; PNRC2; 611883 BRCA2- AND CDKN1A-INTERACTING PROTEIN; BCCIP; Clinical Synopsis for 300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE; Clinical Synopsis for 610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA; Clinical Synopsis for 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE
Changed Entries:: 104500 AMELOGENESIS IMPERFECTA, TYPE IB; AI1B; 106150 ANGIOTENSIN I; AGT; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 130900 AMELOGENESIS IMPERFECTA, TYPE 3; AI3; 134370 COMPLEMENT FACTOR H; CFH; 135821 FIBULIN 2; FBLN2; 154700 MARFAN SYNDROME; MFS; 154705 MOVED TO 610380; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 191045 TROPONIN T2, CARDIAC; TNNT2; 216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL; 600189 TRANSDUCIN-LIKE ENHANCER OF SPLIT 1; TLE1; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602861 PLAKOPHILIN 2; PKP2; 602969 ESTROGEN-RELATED RECEPTOR, GAMMA; ESRRG; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 605551 NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP; 605602 MYOZENIN 2; MYOZ2; 606714 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 1; PNRC1; 606938 UROPORPHYRINOGEN III SYNTHASE; UROS; 607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1; 607960 DEAD/H BOX 32; DDX32; 608245 KERATIN 71; KRT71; 608246 KERATIN 72; KRT72; 608247 KERATIN 73; KRT73; 608248 KERATIN 74; KRT74; 608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A; 609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A; 610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B; 610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B; 610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA; 611376 MUNGAN SYNDROME; MGS; 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE; Clinical Synopsis for 119915 CLUSTER HEADACHE, FAMILIAL; Clinical Synopsis for 153100 LYMPHEDEMA, HEREDITARY, I; Clinical Synopsis for 158350 COWDEN DISEASE; CD; Clinical Synopsis for 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1; Clinical Synopsis for 235730 MOWAT-WILSON SYNDROME; Clinical Synopsis for 253010 MORQUIO SYNDROME B; Clinical Synopsis for 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME; Clinical Synopsis for 610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

March 6, 2008
New Entries:: 611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2; 611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y; 611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z; 611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A; 611881 ALDOLASE A DEFICIENCY; Clinical Synopsis for 607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8; Clinical Synopsis for 609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; Clinical Synopsis for 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10; Clinical Synopsis for 610634 CATARACT, POSTERIOR POLAR, 5; CTPP5; Clinical Synopsis for 610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN; Clinical Synopsis for 611376 MUNGAN SYNDROME; MGS; Clinical Synopsis for 611377 BRACHYDACTYLY, TYPE B2; BDB2; Clinical Synopsis for 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12; Clinical Synopsis for 611561 MECKEL SYNDROME, TYPE 5; MKS5; Clinical Synopsis for 611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M; Clinical Synopsis for 611630 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE; Clinical Synopsis for 611634 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9
Changed Entries:: 103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1; 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5; 154700 MARFAN SYNDROME; MFS; 191010 TROPOMYOSIN 1; TPM1; 191040 TROPONIN C, SLOW; TNNC1; 191044 TROPONIN I, CARDIAC; TNNI3; 191045 TROPONIN T2, CARDIAC; TNNT2; 222690 DIBASICAMINOACIDURIA I; 300427 NEUROLIGIN 4; NLGN4; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ; 601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E; 601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D; 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3; 602544 PARKIN; PARK2; 603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 603903 SICKLE CELL ANEMIA; 604288 CARDIOMYOPATHY, DILATED, 1H; CMD1H; 604394 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12; GNA12; 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13; 604763 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12; ARHGEF12; 606557 B-CELL CLL/LYMPHOMA 11A; BCL11A; 607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; 609648 NLR FAMILY, PYRIN-DOMAIN CONTAINING 12; NLRP12; 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10; 610634 CATARACT, POSTERIOR POLAR, 5; CTPP5; 610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN; 611376 MUNGAN SYNDROME; MGS; 611377 BRACHYDACTYLY, TYPE B2; BDB2; 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12; 611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y; Clinical Synopsis for 104000 ALOPECIA AREATA 1; Clinical Synopsis for 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; Clinical Synopsis for 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; Clinical Synopsis for 212750 CELIAC DISEASE; CD; Clinical Synopsis for 216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL; Clinical Synopsis for 224300 DYSOSTEOSCLEROSIS; Clinical Synopsis for 250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; Clinical Synopsis for 258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; Clinical Synopsis for 266900 SENIOR-LOKEN SYNDROME 1; SLSN1; Clinical Synopsis for 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE; Clinical Synopsis for 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; Clinical Synopsis for 607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8

March 5, 2008
New Entries:: 611856 MITOCHONDRIAL RIBOSOMAL PROTEIN L52; MRPL52; 611857 MITOCHONDRIAL RIBOSOMAL PROTEIN L53; MRPL53; 611858 MITOCHONDRIAL RIBOSOMAL PROTEIN L54; MRPL54; 611859 MITOCHONDRIAL RIBOSOMAL PROTEIN L55; MRPL55
Changed Entries:: 104500 AMELOGENESIS IMPERFECTA, TYPE IB; AI1B; 130900 AMELOGENESIS IMPERFECTA, TYPE 3; AI3; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 163800 SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR; 189905 TRANSCOBALAMIN I; TCN1; 191900 MUCKLE-WELLS SYNDROME; 193090 TRANSCOBALAMIN I DEFICIENCY; 204690 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G; 260400 SHWACHMAN-DIAMOND SYNDROME; SDS; 275350 TRANSCOBALAMIN II DEFICIENCY; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 603149 INTERLEUKIN 17A; IL17A; 604853 MITOCHONDRIAL RIBOSOMAL PROTEIN L28; MRPL28; 604856 LANGERHANS CELL HISTIOCYTOSIS; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605089 MITOCHONDRIAL RIBOSOMAL PROTEIN L40; MRPL40; 605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 605871 MOVED TO 193090; 606866 MITOCHONDRIAL RIBOSOMAL PROTEIN L49; MRPL49; 607444 SBDS GENE; SBDS; 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2; 608440 LACTAMASE, BETA; LACTB; 608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1; 609135 APLASTIC ANEMIA; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 611777 BRUGADA SYNDROME 2; 611856 MITOCHONDRIAL RIBOSOMAL PROTEIN L52; MRPL52; 611857 MITOCHONDRIAL RIBOSOMAL PROTEIN L53; MRPL53; 611875 BRUGADA SYNDROME 3; 611876 BRUGADA SYNDROME 4

March 4, 2008
New Entries:: 300701 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 12; ZCCHC12; 611840 MITOCHONDRIAL RIBOSOMAL PROTEIN L34; MRPL34; 611841 MITOCHONDRIAL RIBOSOMAL PROTEIN L35; MRPL35; 611842 MITOCHONDRIAL RIBOSOMAL PROTEIN L36; MRPL36; 611843 MITOCHONDRIAL RIBOSOMAL PROTEIN L37; MRPL37; 611844 MITOCHONDRIAL RIBOSOMAL PROTEIN L38; MRPL38; 611845 MITOCHONDRIAL RIBOSOMAL PROTEIN L39; MRPL39; 611846 MITOCHONDRIAL RIBOSOMAL PROTEIN L41; MRPL41; 611847 MITOCHONDRIAL RIBOSOMAL PROTEIN L42; MRPL42; 611848 MITOCHONDRIAL RIBOSOMAL PROTEIN L43; MRPL43; 611849 MITOCHONDRIAL RIBOSOMAL PROTEIN L44; MRPL44; 611850 MITOCHONDRIAL RIBOSOMAL PROTEIN L45; MRPL45; 611851 MITOCHONDRIAL RIBOSOMAL PROTEIN L46; MRPL46; 611852 MITOCHONDRIAL RIBOSOMAL PROTEIN L47; MRPL47; 611853 MITOCHONDRIAL RIBOSOMAL PROTEIN L48; MRPL48; 611854 MITOCHONDRIAL RIBOSOMAL PROTEIN L50; MRPL50; 611855 MITOCHONDRIAL RIBOSOMAL PROTEIN L51; MRPL51; 611875 BRUGADA SYNDROME 3; 611876 BRUGADA SYNDROME 4; 611877 BAI1-ASSOCIATED PROTEIN 2-LIKE 1; BAIAP2L1
Changed Entries:: 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 118005 CERVICAL VERTEBRAL DYSPLASIA; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 229300 FRIEDREICH ATAXIA 1; FRDA; 248600 MAPLE SYRUP URINE DISEASE; 251450 DESBUQUOIS SYNDROME; DBQD; 300546 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1; 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 305400 FACIOGENITAL DYSPLASIA; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2; 600346 POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2; 600393 FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1; 600561 SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY; 601144 BRUGADA SYNDROME 1; 604654 5-@HYDROXYTRYPTAMINE RECEPTOR 3B; HTR3B; 606829 FRATAXIN; FXN; 609342 GASTRIC INTRINSIC FACTOR; GIF; 610031 POLYMICROGYRIA, UNILATERAL; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 611450 PXK DOMAIN-CONTAINING SERINE/THREONINE KINASE; PXK; 611755 LEBER CONGENITAL AMAUROSIS, TYPE X; LCA10; 611777 BRUGADA SYNDROME 2; 611877 BAI1-ASSOCIATED PROTEIN 2-LIKE 1; BAIAP2L1; Clinical Synopsis for 104500 AMELOGENESIS IMPERFECTA 2, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT;; Clinical Synopsis for 130900 ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED; Clinical Synopsis for 190685 DOWN SYNDROME

March 3, 2008
New Entries:: 611871 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER B; FAM82B; 611872 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A; FAM82A; 611873 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER C; FAM82C; 611874 NEURON-DERIVED NEUROTROPHIC FACTOR; NENF
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 135630 INTEGRIN, BETA-1; ITGB1; 138275 GLUTAMIC ACID DECARBOXYLASE 2; GAD2; 147810 INTERLEUKIN 1 RECEPTOR, TYPE I; IL1R1; 162640 NEUROPEPTIDE Y; NPY; 169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 184429 SRY-BOX 2; SOX2; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 192968 INTEGRIN, ALPHA-1; ITGA1; 194363 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4; 194364 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; XRCC5; 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; 300225 NADPH OXIDASE 1; NOX1; 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB; 300565 CHROMOSOME X OPEN READING FRAME 1; CXORF1; 600232 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-2; GABRB2; 600508 NCK ADAPTOR PROTEIN 1; NCK1; 600807 ASTHMA, SUSCEPTIBILITY TO; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602533 ONCOGENE DJ1; 603287 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603767 KALLIKREIN-RELATED PEPTIDASE 4; KLK4; 604930 NCK ADAPTOR PROTEIN 2; NCK2; 605303 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 3; TACC3; 605363 GLUTAMATE DECARBOXYLASE 1; GAD1; 605848 CASPASE 14, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP14; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 606277 TOLL-INTERACTING PROTEIN; TOLLIP; 606673 BETA-UREIDOPROPIONASE; UPB1; 606873 HEXOSAMINIDASE B; HEXB; 606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS; 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; 611874 NEURON-DERIVED NEUROTROPHIC FACTOR; NENF

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