SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
Disease: Adult-onset citrullinemia type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338719
rs80338719
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		T 0.700 CausalMutation CLINVAR High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. 21134364 2011
dbSNP: rs80338717
rs80338717
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		T 0.700 CausalMutation CLINVAR [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. 21507300 2011
dbSNP: rs80338720
rs80338720
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		T 0.700 CausalMutation CLINVAR Citrin deficiency, a perplexing global disorder. 19036621 2009
dbSNP: rs80338720
rs80338720
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		T 0.700 CausalMutation CLINVAR [Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. 19470249 2009
dbSNP: rs80338717
rs80338717
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		T 0.700 CausalMutation CLINVAR Neonatal presentation of adult-onset type II citrullinemia. 11281457 2001
dbSNP: rs80338722
rs80338722
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		T 0.700 CausalMutation CLINVAR Neonatal presentation of adult-onset type II citrullinemia. 11281457 2001
dbSNP: rs80338720
rs80338720
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		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
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs80338715
rs80338715
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80338716
rs80338716
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80338718
rs80338718
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs80338721
rs80338721
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1863844
Disease:
Adult-onset citrullinemia type 2 		A 0.700 CausalMutation CLINVAR