SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
Disease: Citrin deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs80338720
rs80338720
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles. 12512993 2002
dbSNP: rs80338720
rs80338720
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 10369257 1999