PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777777
rs587777777
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C4015019
Disease:
NEU-LAXOVA SYNDROME 2 		0.800 GeneticVariation UNIPROT Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 25152457 2014
dbSNP: rs587777778
rs587777778
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C4015019
Disease:
NEU-LAXOVA SYNDROME 2 		0.800 GeneticVariation UNIPROT Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 25152457 2014
dbSNP: rs118203967
rs118203967
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C1970253
Disease:
Phosphoserine Aminotransferase Deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs118203967
rs118203967
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C1970253
Disease:
Phosphoserine Aminotransferase Deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs587777777
rs587777777
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C4015019
Disease:
NEU-LAXOVA SYNDROME 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777778
rs587777778
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C4015019
Disease:
NEU-LAXOVA SYNDROME 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1564012541
rs1564012541
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C4015019
Disease:
NEU-LAXOVA SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777747
rs587777747
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C1970253
Disease:
Phosphoserine Aminotransferase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777776
rs587777776
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C4015019
Disease:
NEU-LAXOVA SYNDROME 2 		AGACCT 0.700 CausalMutation CLINVAR
dbSNP: rs370535310
rs370535310
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0600139
Disease:
Prostate carcinoma 		0.010 GeneticVariation BEFREE It seems that there is no association of prostate cancer with MnSOD Ile58Thr polymorphism, whereas the TT genotype in the CAT C-262T polymorphism and the GG genotype in the MPO G-463A polymorphism may be associated with increased prostate cancer risk. 23773345 2013
dbSNP: rs370535310
rs370535310
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0027627
Disease:
Neoplasm Metastasis 		0.010 GeneticVariation BEFREE Manganese superoxide dismutase Ile58Thr, catalase C-262T and myeloperoxidase G-463A gene polymorphisms in patients with prostate cancer: relation to advanced and metastatic disease. 23773345 2013
dbSNP: rs370535310
rs370535310
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.010 GeneticVariation BEFREE It seems that there is no association of prostate cancer with MnSOD Ile58Thr polymorphism, whereas the TT genotype in the CAT C-262T polymorphism and the GG genotype in the MPO G-463A polymorphism may be associated with increased prostate cancer risk. 23773345 2013
dbSNP: rs202103028
rs202103028
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.010 GeneticVariation BEFREE This exploratory analysis in prostate cancer patients revealed the W allele of the KLK2 R250W SNP to be less likely associated with low GS morphology. 21178268 2010
dbSNP: rs202103028
rs202103028
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0600139
Disease:
Prostate carcinoma 		0.010 GeneticVariation BEFREE This exploratory analysis in prostate cancer patients revealed the W allele of the KLK2 R250W SNP to be less likely associated with low GS morphology. 21178268 2010
dbSNP: rs1293441395
rs1293441395
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.010 GeneticVariation BEFREE The prevalence of the HPC2 Ala541Thr allele was similar in men with prostate cancer (6.3%), men with other prostatic conditions (6.8%), and healthy women (6.3%) (P = .83). 11254449 2001
dbSNP: rs1293441395
rs1293441395
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0600139
Disease:
Prostate carcinoma 		0.010 GeneticVariation BEFREE The prevalence of the HPC2 Ala541Thr allele was similar in men with prostate cancer (6.3%), men with other prostatic conditions (6.8%), and healthy women (6.3%) (P = .83). 11254449 2001