Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
0.620 GeneticVariation disease BEFREE We also investigated methylation profiles in peripheral blood mononuclear cells from patients with red cell membrane diseases, such as complete protein 4.2 deficiency due to ELB42 mutations, hereditary spherocytosis with EPB3 mutations, and hereditary elliptocytosis with SPTB mutations. 16158818 2005
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
0.620 Biomarker disease GENOMICS_ENGLAND Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 9600966 1998
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
0.620 GeneticVariation disease BEFREE The correlation between microscopical examination and erythrocyte band 3 (AE1) gene deletion in South-east Asian ovalocytosis. 9861402 1998
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
0.620 Biomarker disease CTD_human Molecular basis for membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3. 1737855 1992
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
0.620 Biomarker disease HPO