PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease BEFREE Mutations in the gene for this enzyme, PGK1, are associated with PGK deficiency, which is characterized by neurological symptoms, nonhereditary spherocytic hemolytic anemia, and myopathy. 30951021 2019
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease BEFREE Phosphoglycerate kinase-1 deficiency is caused by X-linked recessive mutations in PGK-1 and associated with haemolytic anaemia, rhabdomyolysis, myopathy and nervous system involvement. 30975619 2019
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease BEFREE The diagnosis of PGK1 deficiency was made at 11 months of age on the basis of low PGK enzyme activity (36.7 IU/g Hb; normal, 264-326 IU/g Hb) and the identification through PGK1 gene sequencing of a novel missense mutation: c. 1180A>G at exon 10. 24934115 2014
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease BEFREE Whereas most known PGK1 mutations cause amino acid alterations, our study indicates that inhibition of the transcription mechanism is the cause of PGK deficiency. 17661373 2007
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease BEFREE The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. 491A --> T) PGK1 gene mutation. 16740138 2006
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 Biomarker disease GENOMICS_ENGLAND The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. 491A --> T) PGK1 gene mutation. 16740138 2006
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease BEFREE The diagnosis of PGK1 deficiency was made based on his remarkably low (< 10% of normal) erythrocyte PGK enzyme activity level and the identification of a novel missense (1060G-->C) PGK1 gene mutation. 12956773 2003
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. 9744480 1998
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. 8615693 1996
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). 8673469 1995
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens. 8043870 1994
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GermlineCausalMutation disease ORPHANET A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. 1547346 1992
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. 1547346 1992
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 Biomarker disease GENOMICS_ENGLAND A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. 1547346 1992
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. 1586722 1992
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3. 2001457 1991
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. 6941312 1981
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 Biomarker disease GENOMICS_ENGLAND Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. 6933565 1980
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease UNIPROT Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. 6933565 1980
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 CausalMutation disease CLINVAR
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease CLINVAR
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 Biomarker disease CTD_human
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 Biomarker disease BEFREE Interestingly, a negative correlation between miR-450b-3p and phosphoglycerate kinase 1 (PGK1) protein was observed among HCC specimens. 31222833 2019