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: rs386833858
rs386833858
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
dbSNP: rs386833858
rs386833858
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968 2002
dbSNP: rs386833858
rs386833858
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		C 0.800 GeneticVariation CLINVAR