PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
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
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: 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: 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: 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: 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
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.610 CausalMutation disease CLINVAR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.310 Biomarker disease BEFREE Knock-down of PSAT1 enhanced the sensitivity of NSCLC cells to glutamine-limiting conditions. 31810937 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.310 Biomarker disease BEFREE We evaluated the impact of <i>Nf1</i> loss on LUAD development using a CRISPR/Cas9 platform in a murine model of <i>Kras</i>-mutant LUAD We discovered that <i>Nf1</i> deactivation is associated with Fak1 hyperactivation and phosphoserine aminotransferase 1 (Psat1) upregulation in mice. 31036704 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.310 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.310 Biomarker disease CTD_human NRF2 regulates serine biosynthesis in non-small cell lung cancer. 26482881 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET In summary, we propose an idea that PSAT1 may be implicated in altered serine metabolism and schizophrenia spectrum conditions. 20955740 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE In summary, we propose an idea that PSAT1 may be implicated in altered serine metabolism and schizophrenia spectrum conditions. 20955740 2011
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.300 Biomarker disease GENOMICS_ENGLAND Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. 17436247 2007