STOM, stomatin, 2040

N. diseases: 39; N. variants: 1
Disease: Hereditary stomatocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis 		0.020 Biomarker disease BEFREE STORP is homologous to the EPB72 gene coding for the erythrocyte band 7 integral membrane protein or stomatin, which is deficient in a certain form of hereditary stomatocytosis.The function of STORP is unknown. 10997330 2000
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis 		0.020 Biomarker disease BEFREE Stomatin is a poorly understood integral membrane protein that is absent from the erythrocyte membranes of many patients with hereditary stomatocytosis. 8786142 1996