Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. 25087164 2015
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. 25087164 2015
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. 12557299 2003
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. 25087164 2015
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. 9399911 1997
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 Biomarker disease HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.100 Biomarker disease HPO
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		0.100 Biomarker phenotype HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 Biomarker phenotype HPO