SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
Disease: Citrin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13. 31809266 2020
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Biallelic SLC25A13 mutations result in Citrin deficiency (CD). 30708027 2019
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 Biomarker disease BEFREE Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. 31255436 2019
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 Biomarker disease BEFREE Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model. 30862943 2019
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE A genetic analysis of solute carrier family 25, member 13 revealed the presence of a homozygous 851del4 mutation, and a diagnosis of citrin deficiency was made. 30591617 2019
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 Biomarker disease BEFREE In contrast, the estimated carrier frequencies for SLC25A13, which causes citrin deficiency, were much higher compared with the incidence rate. 30887117 2019
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 Biomarker disease BEFREE Two subjects did not present with NICCD, and were subsequently diagnosed later in life after their siblings presented with symptoms of citrin deficiency at one month of age and subsequently received a molecular diagnosis. 30181955 2018
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations. 29787821 2018
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2). 27829683 2017
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 CausalMutation disease CLINVAR [Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis]. 27577219 2016
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 CausalMutation disease CLINVAR Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 27405544 2016
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 27405544 2016
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Citrin deficiency was suspected, and genomic DNA analysis revealed a mutation (IVS16ins3kb) in SLC25A13, which encodes a mitochondrial aspartate-glutamate carrier protein. 26109823 2015
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease CLINVAR Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 24586645 2014
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. 24161253 2014
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE This study aims to investigate the effect of a novel missense mutation on the aspartate/glutamate carrier (AGC) function of citrin protein, and to explore the aberrant transcript from c.615+5G>A in the same CD infant. 24586645 2014
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency. 25110155 2014
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. 25216257 2014
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 CausalMutation disease 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
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 CausalMutation disease 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
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Eleven SLC25A13 mutations account for 95% of the mutant alleles in Japanese patients with citrin deficiency. 22277121 2012
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE Analysis of SLC25A13 mutations, identification of dysmorphic erythrocytes, hepatobiliary scintigraphic imaging and investigation of post-NICCD clinical presentations were performed in a citrin-deficient cohort comprised of 51 cases of children diagnosed with citrin deficiency in a Chinese pediatric center. 21424115 2011
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease CLINVAR [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. 21507300 2011
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 Biomarker disease BEFREE Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2). 22095253 2011
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		0.200 GeneticVariation disease BEFREE SLC25A13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 20927635 2011