Gene: PSAT1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		0.110 Biomarker disease BEFREE We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity. 26610677 2016
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		0.110 Biomarker disease HPO