PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
Disease: Phosphoserine Aminotransferase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 GeneticVariation disease BEFREE PSAT deficiency was confirmed when exome sequencing identified biallelic mutations in PSAT1 and biochemical testing noted low plasma serine and cerebral spinal fluid serine. 30122079 2020
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 GermlineCausalMutation disease ORPHANET Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. 17436247 2007
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 GeneticVariation disease UNIPROT Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. 17436247 2007
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. 17436247 2007
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. 17436247 2007
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. 17436247 2007
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 Biomarker disease CTD_human
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		0.710 CausalMutation disease CLINVAR