HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117 2017
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117 2017
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 GeneticVariation disease UNIPROT Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117 2017
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 GeneticVariation disease UNIPROT Deficiency of HTRA2Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. 27208207 2016
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 18401856 2008
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 15961413 2005
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.600 Biomarker disease CTD_human