PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
Disease: Neu-Laxova syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.610 GeneticVariation disease BEFREE Biallelic pathogenic variants in either the PHGDH or PSAT1 genes have been shown to cause NLS. 30838783 2019
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.610 GermlineCausalMutation disease ORPHANET Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 25152457 2014
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.610 Biomarker disease CTD_human
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND