STOM, stomatin, 2040

N. diseases: 39; N. variants: 1
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 		0.020 GeneticVariation disease BEFREE We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. 21791420 2011
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.020 Biomarker disease BEFREE Stomatocytosis is absent in "stomatin"-deficient murine red blood cells. 10090952 1999