COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in COQ2 in familial and sporadic multiple-system atrophy. 23758206 2013
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.600 GeneticVariation disease UNIPROT Mutations in COQ2 in familial and sporadic multiple-system atrophy. 23758206 2013
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND Multiplex families with multiple system atrophy. 17420317 2007
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.600 SusceptibilityMutation disease CLINVAR