rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
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
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
26944031
2016
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
CCAAT
0.700
CausalMutation
CLINVAR
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
26944031
2016
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
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
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
25526709
2015
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
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
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
CCAAT
0.700
CausalMutation
CLINVAR
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
25526709
2015
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
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
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
27896109
2014
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
CCAAT
0.700
CausalMutation
CLINVAR
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
27896109
2014
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
23021068
2012
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
CCAAT
0.700
CausalMutation
CLINVAR
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
23021068
2012
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
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
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
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
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
15384102
2004
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
CCAAT
0.700
CausalMutation
CLINVAR
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
15384102
2004
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
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
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
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
rs1555934843
×
Entrez Id:
5160
Gene Symbol:
PDHA1
PDHA1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
7887408
1995
rs606231189
PDHA1;MAP3K15
Multiple congenital anomalies
CCAAT
0.700
CausalMutation
CLINVAR
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
7887408
1995