Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 GeneticVariation disease UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 CausalMutation disease CLINVAR Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 GeneticVariation disease UNIPROT Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 GeneticVariation disease UNIPROT A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 CausalMutation disease CLINVAR A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 GeneticVariation disease UNIPROT Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 CausalMutation disease CLINVAR Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
0.600 Biomarker disease CTD_human