Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity. 9671272 1998
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. 9266390 1997
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS). 8844217 1996
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. 8664900 1996
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. 7757088 1995
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. 7573035 1995
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. 7887409 1995
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. 8032855 1994
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia. 7967473 1994
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. 7545958 1994
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. 8199595 1994
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Molecular genetic characterization of an X-linked form of Leigh's syndrome. 8498846 1993
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. 8504306 1993
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit. 1551669 1992
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. 1338114 1992
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. 1293379 1992
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.800 GeneticVariation UNIPROT Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. 1909401 1991
dbSNP: rs137853250
rs137853250
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		A 0.800 CausalMutation CLINVAR