Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908577
rs121908577
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR Nuclear gene mutations as the cause of mitochondrial complex III deficiency. 25914718 2015
dbSNP: rs121908577
rs121908577
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478 2015
dbSNP: rs121908577
rs121908577
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
dbSNP: rs121908577
rs121908577
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 19389488 2009
dbSNP: rs121908577
rs121908577
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007