PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
Disease: NEU-LAXOVA SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.610 Biomarker disease BEFREE Based on the infectious clone, we rescued two viruses in which were deleted NES-NLS2 (rCAV-VP3N88) or NLS1-NES-NLS2 (rCAV-VP3N80) in the C-terminal region of apoptin. 28222746 2017
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.610 Biomarker disease GENOMICS_ENGLAND [Neu-Laxova syndrome: Three case reports and a review of the literature]. 27475004 2016
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.610 GeneticVariation disease UNIPROT Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 25152457 2014
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.610 Biomarker disease GENOMICS_ENGLAND Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 25152457 2014
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.610 Biomarker disease GENOMICS_ENGLAND Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. 17436247 2007
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.610 CausalMutation disease CLINVAR