SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found
0.400 Biomarker phenotype GENOMICS_ENGLAND Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. 27906107 2016
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found
0.400 Biomarker phenotype GENOMICS_ENGLAND Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 8226774 1993
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found
0.400 Biomarker phenotype HPO