CAT, catalase, 847

N. diseases: 794; N. variants: 14
Disease: Catalase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Therapeutic disease CTD_human Embryonic catalase protects against ethanol embryopathies in acatalasemic mice and transgenic human catalase-expressing mice in embryo culture. 26074427 2015
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Biomarker disease CTD_human Embryonic catalase protects against ethanol embryopathies in acatalasemic mice and transgenic human catalase-expressing mice in embryo culture. 26074427 2015
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 AlteredExpression disease BEFREE We treated pregnant mice expressing either high (hCat) or low catalase activity (aCat), or their wild-type (WT) controls, with either MeOH (4g/kg ip) or saline. hCat mice and WTs were similarly susceptible to MeOH-initiated ophthalmic abnormalities and cleft palates. aCat and WT mice appeared resistant, precluding assessment of the developmental impact of catalase deficiency. 23207165 2013
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 GeneticVariation disease BEFREE Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. 15800961 2005
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 AlteredExpression disease BEFREE Decreases in catalase activity in patients with tumors is more likely to be due to decreased enzyme synthesis rather than to catalase mutations.Acatalasemia, the inherited deficiency of catalase has been detected in 11 countries. 15771551 2004
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 GermlineCausalMutation disease ORPHANET Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Biomarker disease CTD_human Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Biomarker disease CTD_human Hereditary catalase deficiencies and increased risk of diabetes. 11117918 2000
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Therapeutic disease CTD_human Hereditary catalase deficiencies and increased risk of diabetes. 11117918 2000
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Therapeutic disease CTD_human Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Biomarker disease CTD_human Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 1551654 1992
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Therapeutic disease CTD_human Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 1551654 1992
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 AlteredExpression disease BEFREE By using a series of E. coli strains differing in DNA repair capabilities and catalase proficiency, sensitivity to inactivation by anthracene plus NUV was correlated with catalase deficiency rather than with particular repair deficiencies. 1962859 1990
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Therapeutic disease CTD_human Molecular analysis of human acatalasemia. Identification of a splicing mutation. 2308162 1990
CUI: C2931868
Disease: Catalase deficiency
Catalase deficiency 		0.540 Biomarker disease CTD_human Molecular analysis of human acatalasemia. Identification of a splicing mutation. 2308162 1990