Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 24586645

2014
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. 21134364

2011
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. 21424115

2011
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. 21507300

2011
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR Citrin deficiency, a perplexing global disorder. 19036621

2009
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. 18392553

2008
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. 15050970

2004
dbSNP: rs80338717
rs80338717
SLC25A13
T 0.700 CausalMutation CLINVAR Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. 14680984

2003