Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 Biomarker disease GENOMICS_ENGLAND A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 GeneticVariation disease BEFREE A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 GeneticVariation disease BEFREE These results suggest that the HIF2A(M535I) gene mutation could induce hereditary erythrocytosis at a young age. 18508787 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 Biomarker disease GENOMICS_ENGLAND Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation. 18650473 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 Biomarker disease GENOMICS_ENGLAND Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 GeneticVariation disease BEFREE We assessed 41 PCCs/PGLs for mutations in EPAS1 and herein describe the clinical, molecular and genetic characteristics of the 7 patients found to carry somatic EPAS1 mutations; 4 presented with multiple PGLs (3 of them also had congenital erythrocytosis), whereas 3 were single sporadic PCC/PGL cases. 23418310 2013
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 GeneticVariation disease BEFREE Direct sequencing analyses were performed on six genes associated with hereditary erythrocytosis [HBB, exon 2 and exon 3 of HBA2, VHL, EGLN1 (previously PHD2), exon 12 of EPAS1 (previously HIF2A), and exons 5-8 of EPOR]. 24482100 2014
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 Biomarker disease GENOMICS_ENGLAND The role of PHD2 mutations in the pathogenesis of erythrocytosis. 27774468 2014
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 GeneticVariation disease BEFREE Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range. 23716564 2014
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.350 Biomarker disease GENOMICS_ENGLAND Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169 2017