SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
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: rs80338720
rs80338720
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR [Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis]. 27577219 2016
dbSNP: rs80338722
rs80338722
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 27405544 2016
dbSNP: rs80338723
rs80338723
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 27405544 2016
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: rs80338717
rs80338717
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 GeneticVariation 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: rs879255504
rs879255504
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1853942
Disease:
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		C 0.700 CausalMutation CLINVAR [Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia]. 24327139 2013
dbSNP: rs80338720
rs80338720
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. 23022256 2012
dbSNP: rs80338722
rs80338722
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. 22710133 2012
dbSNP: rs746155190
rs746155190
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1853942
Disease:
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		A 0.700 CausalMutation CLINVAR Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified in the subjects, of which c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C) were reported for the first time in NICCD patients. 21507300 2011
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: rs80338717
rs80338717
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 GeneticVariation CLINVAR [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. 21507300 2011
dbSNP: rs80338717
rs80338717
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 GeneticVariation CLINVAR High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. 21134364 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: rs80338717
rs80338717
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 GeneticVariation 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