SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Disease: Icterus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022346
Disease: Icterus
Icterus 		0.110 GeneticVariation phenotype BEFREE Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. 24193021 2014
CUI: C0022346
Disease: Icterus
Icterus 		0.110 CausalMutation phenotype CLINVAR
CUI: C0022346
Disease: Icterus
Icterus 		0.110 Biomarker phenotype HPO