CAT, catalase, 847

N. diseases: 794; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease BEFREE This paper describes the direct and indirect involvement of deficiency and/or modification of catalase in the pathogenesis of some important diseases such as diabetes mellitus, Alzheimer's disease, Parkinson's disease, vitiligo, and acatalasemia. 31827713 2019
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 AlteredExpression disease BEFREE Inactivation of cellular catalase enzyme is known to cause several diseases such as acatalasemia, type 2 diabetes mellitus, and vitiligo. 30583218 2019
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease GENOMICS_ENGLAND In patients with decreased blood catalase, the incidence of acatalasemia mutations was significantly high (P<0.0002) in microcytic anemia, type 2 and gestational diabetes. 25772105 2015
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 GeneticVariation disease BEFREE In patients with decreased blood catalase, the incidence of acatalasemia mutations was significantly high (P<0.0002) in microcytic anemia, type 2 and gestational diabetes. 25772105 2015
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 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: C0268419
Disease: Acatalasia
Acatalasia
0.700 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: C0268419
Disease: Acatalasia
Acatalasia
0.700 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: C0268419
Disease: Acatalasia
Acatalasia
0.700 GeneticVariation disease BEFREE Blood catalase activity, -262C>T polymorphism and acatalasemia mutations were examined in 75 vitiligo patients and in 162 controls, in Hungary. 21947853 2012
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 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: C0268419
Disease: Acatalasia
Acatalasia
0.700 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: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease CTD_human Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease CTD_human Hereditary catalase deficiencies and increased risk of diabetes. 11117918 2000
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Therapeutic disease CTD_human Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Therapeutic disease CTD_human Hereditary catalase deficiencies and increased risk of diabetes. 11117918 2000
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 GermlineCausalMutation disease ORPHANET Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 GeneticVariation disease BEFREE Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 11001624 2000
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 AlteredExpression disease BEFREE None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity. 9564558 1998
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 GeneticVariation disease BEFREE Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. 9237564 1997
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 GeneticVariation disease BEFREE A T-deletion at position 10 of exon 4 for catalase gene was reported as a novel mutation, causing a new genetic type of acatalasemia in Japan. 9420149 1997
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Therapeutic disease CTD_human Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 1551654 1992
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease CTD_human Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 1551654 1992
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease BEFREE The abnormalities in acatalasemia at the gene level as well as properties of the residual catalase in Japanese acatalasemia are historically reviewed. 1999334 1991
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 Biomarker disease CTD_human Molecular analysis of human acatalasemia. Identification of a splicing mutation. 2308162 1990
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.700 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