CAT, catalase, 847

N. diseases: 794; N. variants: 14
Disease: Acatalasemia Japanese type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 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: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 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: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Therapeutic disease CTD_human Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Therapeutic disease CTD_human Hereditary catalase deficiencies and increased risk of diabetes. 11117918 2000
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Biomarker disease CTD_human Hereditary catalase deficiencies and increased risk of diabetes. 11117918 2000
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Biomarker disease CTD_human Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 GeneticVariation disease BEFREE We report here a novel single base deletion in the catalase gene causing Japanese-type acatalasemia. 8673475 1995
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Therapeutic disease CTD_human Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 1551654 1992
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Biomarker disease CTD_human Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 1551654 1992
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Therapeutic disease CTD_human To search for the molecular defect of Japanese-type acatalasemia, we cloned the mutant catalase gene from a person with this deficiency. 2308162 1990
CUI: C2936847
Disease: Acatalasemia Japanese type
Acatalasemia Japanese type 		0.310 Biomarker disease CTD_human To search for the molecular defect of Japanese-type acatalasemia, we cloned the mutant catalase gene from a person with this deficiency. 2308162 1990