Disease: stomatocytic anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.310 GeneticVariation disease BEFREE Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). 28728825 2017
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.310 Biomarker disease GENOMICS_ENGLAND Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. 23581886 2014
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.310 Biomarker disease GENOMICS_ENGLAND Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. 22529292 2012