Disease: GRACILE SYNDROME (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.700 GeneticVariation CLINVAR BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency. 22277166 2012
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.700 GeneticVariation CLINVAR Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. 20518024 2010
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.700 GeneticVariation CLINVAR Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. 12910490 2003
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.700 CausalMutation CLINVAR GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968 2002
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.700 GeneticVariation CLINVAR GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968 2002