Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.500 Biomarker phenotype GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469 2011
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.500 Biomarker phenotype MGD von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 17992257 2007
Entrez Id: 2057
Gene Symbol: EPOR
EPOR 		0.500 Biomarker phenotype CTD_human In contrast to the acquired MPDs, mutations of the erythropoietin receptor and thrombopoietin receptor have been identified in familial forms of nonclonal erythrocytosis and thrombocytosis, respectively. 16484586 2006
Entrez Id: 2057
Gene Symbol: EPOR
EPOR 		0.500 Biomarker phenotype GENOMICS_ENGLAND The new EPOR gene mutation 5881G>T was found to segregate with isolated erythrocytosis in the affected family and this mutation represents the most extensive EpoR truncation reported to date, associated with familial erythrocytosis. 11929803 2002
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.400 Biomarker phenotype CTD_human Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. 7161106 1982
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.400 Biomarker phenotype CTD_human Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp). 1117598 1975
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Hemoglobin variants: biochemical properties and clinical correlates. 23388674 2013
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10 		0.300 Biomarker phenotype CTD_human Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 22926781 2012
Entrez Id: 112399
Gene Symbol: EGLN3
EGLN3 		0.300 Biomarker phenotype GENOMICS_ENGLAND Clinical utility gene card for: familial erythrocytosis. 22274579 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		0.300 Biomarker phenotype CTD_human JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906 2007
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.300 Biomarker phenotype CTD_human Polycythemia in a physician secondary to self-administered growth hormone, testosterone, and dehydroepiandrosterone to prevent aging. 15161484 2004
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		0.300 Biomarker phenotype CTD_human Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity. 1634355 1992
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography. 2050764 1991