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: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3
0.600 GeneticVariation disease UNIPROT Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 7883966 1995
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3
0.600 GeneticVariation disease UNIPROT Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. 8018926 1994
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3
0.600 GeneticVariation disease UNIPROT 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: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3
0.600 Biomarker disease 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: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3
0.600 GeneticVariation disease UNIPROT Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. 1975598 1990
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3
0.600 CausalMutation disease CLINVAR