Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 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: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. 26944031 2016
dbSNP: rs606231189
rs606231189
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
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
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. 26944031 2016
dbSNP: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 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: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. 25526709 2015
dbSNP: rs606231189
rs606231189
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
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
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. 25526709 2015
dbSNP: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 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
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
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: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 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
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
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: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 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
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
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: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. 15384102 2004
dbSNP: rs606231189
rs606231189
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. 15384102 2004
dbSNP: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 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
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
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: rs1555934843
rs1555934843
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. 7887408 1995
dbSNP: rs606231189
rs606231189
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C0432072
Disease:
Dysmorphic features 		CCAAT 0.700 CausalMutation CLINVAR Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. 7887408 1995