Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338720
rs80338720
SLC25A13
T 0.700 CausalMutation CLINVAR Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. 21424115

2011
dbSNP: rs80338720
rs80338720
SLC25A13
T 0.700 CausalMutation CLINVAR [Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. 19470249

2009
dbSNP: rs80338720
rs80338720
SLC25A13
T 0.700 CausalMutation CLINVAR [SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. 17880783

2007
dbSNP: rs80338720
rs80338720
SLC25A13
T 0.700 CausalMutation CLINVAR Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. 12424587

2002
dbSNP: rs80338720
rs80338720
SLC25A13
T 0.700 CausalMutation CLINVAR Neonatal presentation of adult-onset type II citrullinemia. 11281457

2001
dbSNP: rs80338720
rs80338720
SLC25A13
T 0.700 CausalMutation CLINVAR The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 10369257

1999