PHGDH, phosphoglycerate dehydrogenase, 26227

N. diseases: 288; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801955
rs1801955
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphisms of EGFL3 (rs947345)A -->G, caspase 9 ( rs2308938) C-->G and PHGDH(rs1801955)T-->A, 5 of polymorphisms of E2F2(rs3218170) G-->A,4 of polymorphisms of MUTYH(rs1140507)T-->C and BNIP3L(rs1055806)G-->T, and 1 of polymorphism of TNFRSF1B (rs1061622)T-->G were detected by the chip in the tissues of 10 HCC. 16109524 2005
dbSNP: rs121907987
rs121907987
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs121907987
rs121907987
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. 11751922 2002
dbSNP: rs121907988
rs121907988
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs267606948
rs267606948
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs587777770
rs587777770
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs267606948
rs267606948
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		A 0.700 CausalMutation CLINVAR Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs587777774
rs587777774
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777775
rs587777775
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs730882181
rs730882181
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs764618040
rs764618040
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs764618040
rs764618040
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C0036572
Disease:
Seizures 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs769256568
rs769256568
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs769256568
rs769256568
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775936961
rs775936961
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041874
rs886041874
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0543888
Disease:
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs886041874
rs886041874
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0036572
Disease:
Seizures 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs10494229
rs10494229
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11577560
rs11577560
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11804606
rs11804606
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs12023426
rs12023426
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs12129705
rs12129705
Entrez Id: 26227;90874
Gene Symbol: PHGDH;ZNF697
PHGDH;ZNF697
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019