Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377025174
rs377025174
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. 19508421 2009
dbSNP: rs377025174
rs377025174
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
dbSNP: rs377025174
rs377025174
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 17403714 2007
dbSNP: rs377025174
rs377025174
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968 2002
dbSNP: rs377025174
rs377025174
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001