Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338719
rs80338719
SLC25A13
0.710 GeneticVariation BEFREE The diagnosis of CTLN2 was confirmed by elevations of plasma citrulline level (384.3 nmol/mL; normal 17-43 nmol/mL) and serum pancreatic secretory trypsin inhibitor (PSTI) (110 ng/mL; normal 4.6-12.2 ng/mL), decrease in hepatic argininosuccinate synthetase activity (5.5% of control), lack of hepatic citrin protein expression and mutations in SLC25A13 gene (compound heterozygote with S225X and Ex1-1G>A). 16449956

2006
dbSNP: rs80338719
rs80338719
SLC25A13
T 0.710 CausalMutation CLINVAR The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 10369257

1999
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: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. 24161253

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

2009
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: 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: 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: 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
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: rs80338722
rs80338722
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: rs80338722
rs80338722
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
dbSNP: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 10369257

1999
dbSNP: rs1060499612
rs1060499612
SLC25A13
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80338715
rs80338715
SLC25A13
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338716
rs80338716
SLC25A13
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338718
rs80338718
SLC25A13
G 0.700 CausalMutation CLINVAR

dbSNP: rs80338721
rs80338721
SLC25A13
A 0.700 CausalMutation CLINVAR