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: 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: 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: 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: rs80338717
rs80338717
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
CUI: C1997910
Disease:
Citrin deficiency 		T 0.700 CausalMutation CLINVAR