Disease: Stomatocytosis Result ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.300 Biomarker phenotype GENOMICS_ENGLAND Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. 23581886 2014
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. 22529292 2012