Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064796807
rs1064796807
Entrez Id: 8050;51074
Gene Symbol: PDHX;APIP
PDHX;APIP
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs113309941
rs113309941
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1135402725
rs1135402725
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1158194122
rs1158194122
Entrez Id: 8050;51074
Gene Symbol: PDHX;APIP
PDHX;APIP
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554989996
rs1554989996
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
G 0.700 CausalMutation CLINVAR
dbSNP: rs724159828
rs724159828
Entrez Id: 8050;51074
Gene Symbol: PDHX;APIP
PDHX;APIP
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs724159829
rs724159829
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs724159830
rs724159830
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs724159979
rs724159979
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C1855553
Disease:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
G 0.700 CausalMutation CLINVAR
dbSNP: rs1135402725
rs1135402725
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C0023264
Disease:
Leigh Disease
0.010 GeneticVariation BEFREE Whole exome sequencing of a patient with Leigh-like syndrome identified homozygous protein-truncating variants in two genes associated with Leigh syndrome; a reported pathogenic variant in PDHX (NP_003468.2:p.(Arg446*)), and an uncharacterized variant in complex I (CI) assembly factor TIMMDC1 (NP_057673.2:p.(Arg225*)). 30981218 2019
dbSNP: rs1135402725
rs1135402725
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C0001125
Disease:
Acidosis, Lactic
0.010 GeneticVariation BEFREE The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). 25087164 2015
dbSNP: rs1135402725
rs1135402725
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C0036572
Disease:
Seizures
0.010 GeneticVariation BEFREE The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). 25087164 2015
dbSNP: rs1135402725
rs1135402725
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C4025276
Disease:
Congenital lactic acidosis
0.010 GeneticVariation BEFREE Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. 25087164 2015
dbSNP: rs1135402725
rs1135402725
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
CUI: C0557874
Disease:
Global developmental delay
0.010 GeneticVariation BEFREE The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). 25087164 2015