EPOR, erythropoietin receptor, 2057

N. diseases: 162; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62638745
rs62638745
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		0.700 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579 2012
dbSNP: rs121917830
rs121917830
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		T 0.700 CausalMutation CLINVAR Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. 17488692 2007
dbSNP: rs121918116
rs121918116
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		T 0.700 CausalMutation CLINVAR Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. 17488692 2007
dbSNP: rs62638745
rs62638745
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		0.700 GeneticVariation UNIPROT Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 8608241 1996
dbSNP: rs121917830
rs121917830
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		T 0.700 CausalMutation CLINVAR Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. 8506290 1993
dbSNP: rs62638745
rs62638745
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		0.700 GeneticVariation UNIPROT Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. 8506290 1993
dbSNP: rs121917831
rs121917831
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs121918116
rs121918116
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555716041
rs1555716041
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555716045
rs1555716045
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555716047
rs1555716047
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		TA 0.700 GeneticVariation CLINVAR
dbSNP: rs62638745
rs62638745
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0023440
Disease:
Acute Erythroblastic Leukemia 		0.700 GeneticVariation UNIPROT
dbSNP: rs142094773
rs142094773
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032461
Disease:
Polycythemia 		0.010 GeneticVariation BEFREE However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994). 8608241 1996
dbSNP: rs62638745
rs62638745
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032461
Disease:
Polycythemia 		0.010 GeneticVariation BEFREE However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994). 8608241 1996