BPGM, bisphosphoglycerate mutase, 669

N. diseases: 10; N. variants: 3
Disease: Deficiency of bisphosphoglycerate mutase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		0.700 GermlineCausalMutation disease ORPHANET Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. 15054810 2004
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		0.700 GeneticVariation disease UNIPROT Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. 15054810 2004
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		0.700 GeneticVariation disease UNIPROT Therefore, the total BPGM deficiency results from a genetic compound with one allele coding for an inactive enzyme (mutation BPGM Créteil I) and the other bearing a frameshift mutation (mutation BPGM Créteil II). 1421379 1992
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		0.700 GeneticVariation disease UNIPROT Isolation, characterization, and structure of a mutant 89 Arg----Cys bisphosphoglycerate mutase. Implication of the active site in the mutation. 2542247 1989
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		0.700 CausalMutation disease CLINVAR
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		0.700 Biomarker disease CTD_human