Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. 27144126

2016
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. 26944031

2016
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. 25526709

2015
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review. 26008863

2015
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. 27896109

2014
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. 23021068

2012
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. 21914562

2011
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. 15384102

2004
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. 10679936

2000
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. 7887408

1995