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 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 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 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 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 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 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 Biomarker disease BEFREE Hypoxic treatment of various mouse and human hepatoma cell lines led to the expected increase in the amount of PGK1 and PKM2 mRNA, while HIF-1alpha mRNA levels were not significantly elevated. 9692838 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 AlteredExpression disease BEFREE When 18s or ACTB was used for normalization, no significant difference of PGK1 expression (p > 0.05) was found among HCC tissues with and without metastasis, and normal liver specimens; however, dramatically differences (p < 0.001) were observed when either TBP or the combination of TBP and HPRT1 were selected as reference genes. 19200351 2009
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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 Biomarker disease BEFREE Our results revealed a new effect of PGK1, which can provide a new treatment strategy for hepatocellular carcinoma, as PGK1 is used to indicate the prognosis of hepatocellular carcinoma (HCC). 28749413 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 Biomarker disease BEFREE And the PGK1 could be complementary with AFP to further improve the sensitivity and specificity in prognostic prediction of HCC relapse. 31114342 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 Biomarker disease BEFREE Taken together with the confirmation of expression on the mRNA level, we propose the use of FLNA and PGK1 as potential markers for the progression of HCC. 21471709 2011
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		0.340 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: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		0.340 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: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		0.340 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: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		0.340 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.310 AlteredExpression disease BEFREE Besides, expressions of PGK1 and PKM2 at protein and lysine, succinylation levels are significantly altered in RCC tissues. 29882248 2018
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.310 AlteredExpression disease BEFREE Besides, expressions of PGK1 and PKM2 at protein and lysine, succinylation levels are significantly altered in RCC tissues. 29882248 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group 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: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation that was recently reported in a patient with isolated myopathy. 20151463 2010
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group 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: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.120 Biomarker disease BEFREE Because PGK-1 deficiency may cause mental tardy and hemolytic anemia, interaction between anti-dsDNA and PGK-1 may be important in lupus pathogenesis. 16857429 2006
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.120 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: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.120 Biomarker disease BEFREE Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. 2035533 1991