CAT, catalase, 847

N. diseases: 171; N. variants: 2
Disease: Catalase deficiency ×
Source: CURATED ×
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 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 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