Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.400 Biomarker GENOMICS_ENGLAND GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. 12215968

2002

Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.400 Biomarker GENOMICS_ENGLAND Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. 9792866

1998