Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		disease 0.700 None 1.000 3 7 2000 2014
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		disease 0.600 None 1.000 1 6 2000 2014
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 2 2000 2000
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 2