Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553597538
rs1553597538
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. 19508421 2009
dbSNP: rs1553597538
rs1553597538
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
dbSNP: rs1553597538
rs1553597538
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 17403714 2007
dbSNP: rs1553597538
rs1553597538
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968 2002
dbSNP: rs1553597538
rs1553597538
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001