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: 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: rs894079
rs894079
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0017565
Disease:
Gingival Hemorrhage 		0.700 GeneticVariation GWASCAT The Novel ASIC2 Locus is Associated with Severe Gingival Inflammation. 28459102 2016
dbSNP: rs523395
rs523395
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs121907988
rs121907988
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs267606948
rs267606948
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
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: rs201553627
rs201553627
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
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: rs267606949
rs267606949
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT 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 		0.800 GeneticVariation UNIPROT Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. 24836451 2014
dbSNP: rs587777483
rs587777483
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		0.700 GeneticVariation UNIPROT Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. 24836451 2014
dbSNP: rs121907987
rs121907987
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT 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 Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs121907988
rs121907988
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs267606948
rs267606948
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs201553627
rs201553627
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs267606949
rs267606949
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
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
dbSNP: rs662602
rs662602
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs477992
rs477992
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0495706
Disease:
elevated blood glucose level 		A 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs477992
rs477992
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0337438
Disease:
Glucose measurement 		A 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011