Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232

2009
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. 11751922

2002
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895

2000
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation CLINVAR

Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 CausalMutation CLINVAR Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232

2009
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 GeneticVariation CLINVAR

Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation CLINVAR

Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.100 GeneticVariation CLINVAR