BPGM, bisphosphoglycerate mutase, 669

N. diseases: 10; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964925
rs121964925
Entrez Id: 669
Gene Symbol: BPGM
BPGM
CUI: C1291620
Disease:
Deficiency of bisphosphoglycerate mutase 		0.800 GeneticVariation UNIPROT Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. 15054810 2004
dbSNP: rs121964925
rs121964925
Entrez Id: 669
Gene Symbol: BPGM
BPGM
CUI: C1291620
Disease:
Deficiency of bisphosphoglycerate mutase 		0.800 GeneticVariation UNIPROT A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown to be associated with 30% to 50% of an inactive enzyme detectable by specific antibodies and resulting from an 89 Arg-->Cys substitution. 1421379 1992
dbSNP: rs121964925
rs121964925
Entrez Id: 669
Gene Symbol: BPGM
BPGM
CUI: C1291620
Disease:
Deficiency of bisphosphoglycerate mutase 		0.800 GeneticVariation UNIPROT Isolation, characterization, and structure of a mutant 89 Arg----Cys bisphosphoglycerate mutase. Implication of the active site in the mutation. 2542247 1989
dbSNP: rs121964925
rs121964925
Entrez Id: 669
Gene Symbol: BPGM
BPGM
CUI: C1291620
Disease:
Deficiency of bisphosphoglycerate mutase 		T 0.800 CausalMutation CLINVAR
dbSNP: rs751972865
rs751972865
Entrez Id: 669
Gene Symbol: BPGM
BPGM
CUI: C1291620
Disease:
Deficiency of bisphosphoglycerate mutase 		0.700 GeneticVariation UNIPROT
dbSNP: rs786205092
rs786205092
Entrez Id: 669
Gene Symbol: BPGM
BPGM
CUI: C1291620
Disease:
Deficiency of bisphosphoglycerate mutase 		A 0.700 CausalMutation CLINVAR