Genotype-based databases for variants causing rare diseases

Gene

Volumn 550, Issue 1, 2014, Pages 136-140

  Lanthaler, Barbara ^a   Wieser, Stefanie ^b   Deutschmann, Andrea ^a   Schossig, Anna ^a   Fauth, Christine ^a   Zschocke, Johannes ^a   Witsch Baumgartner, Martina ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b Hospital Salzburg   (Austria)

Author keywords

ACAD8; ACADSB; AUH; DHCR7; FKBP14; HMGCS2; HSD17B10; LOVD 3.0; ROGDI

Indexed keywords

3 METHYLGLUTACONIC ACID; ACYL COENZYME A DEHYDROGENASE; COENZYME A; ISOBUTYRYL COENZYME A DEHYDROGENASE; OXIDOREDUCTASE; TESTOSTERONE 17BETA DEHYDROGENASE; UNCLASSIFIED DRUG; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; 7-DEHYDROCHOLESTEROL REDUCTASE; ABC TRANSPORTER A1; ABCA1 PROTEIN, HUMAN; ACAD8 PROTEIN, HUMAN; APOLIPOPROTEIN E; AUH PROTEIN, HUMAN; ENOYL COENZYME A HYDRATASE; FKBP14 PROTEIN, HUMAN; HSD17B10 PROTEIN, HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; MEMBRANE PROTEIN; NUCLEAR PROTEIN; PEPTIDYLPROLYL ISOMERASE; RNA BINDING PROTEIN; ROGDI PROTEIN, HUMAN;

ACCESS TO INFORMATION; ACIDURIA; AMINO ACID SUBSTITUTION; ARTICLE; DATA BASE; DISEASE SEVERITY; DNA SEQUENCE; EHLERS DANLOS SYNDROME; ENZYME ACTIVITY; GENETIC VARIABILITY; GENOTYPE; GEOGRAPHIC ORIGIN; HEARING IMPAIRMENT; HUGO GENE NOMENCLATURE; HUMAN; INHERITANCE; ISOBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; KOHLSCHUTTER TONZ SYNDROME; KYPHOSCOLIOSIS; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; MYOPATHY; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SMITH LEMLI OPITZ SYNDROME; STOP CODON; AMELOGENESIS IMPERFECTA; DEFICIENCY; DEMENTIA; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPSY; GENETIC ASSOCIATION; GENETIC DATABASE; GENETICS; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INTERNET; MUTATION; PATHOLOGY; PROCEDURES; STATISTICS AND NUMERICAL DATA;

3-HYDROXYACYL COA DEHYDROGENASES; ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; AMELOGENESIS IMPERFECTA; AMINO ACID METABOLISM, INBORN ERRORS; APOLIPOPROTEINS E; ATP BINDING CASSETTE TRANSPORTER 1; DATABASES, GENETIC; DEMENTIA; EHLERS-DANLOS SYNDROME; ENOYL-COA HYDRATASE; EPILEPSY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; HYDROXYMETHYLGLUTARYL-COA SYNTHASE; HYPOGLYCEMIA; INTERNET; LIPID METABOLISM, INBORN ERRORS; MEMBRANE PROTEINS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MUTATION; NUCLEAR PROTEINS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEPTIDYLPROLYL ISOMERASE; PHENOTYPE; RARE DISEASES; RNA-BINDING PROTEINS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84906940161     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.08.016     Document Type: Article

References (9)

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