Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.040 GeneticVariation disease BEFREE EPAS1 p.M535T appears to be found in different populations as a causative variation in familial erythrocytosis. 27292716 2016
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.040 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
0.040 GeneticVariation disease BEFREE We describe here the identification of two cases of familial erythrocytosis associated with heterozygous HIF2A missense mutations, namely Ile533Val and Gly537Arg. 23716564 2013
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.040 GeneticVariation disease BEFREE A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008