SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Disease: Hereditary spherocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease BEFREE This first-ever south Asian study on the molecular spectrum of HS found ANK1 and SPTB genes variants to be the commonest with inheritance being sporadic/dominant. 31602632 2020
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease BEFREE With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. 29402830 2019
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 Biomarker disease BEFREE We found 34 novel mutations and four reported mutations in three known HS-causing genes-17 in ANK1, 17 in SPTB and four in SLC4A1, suggesting that ANK1 and SPTB are the major genes in Chinese patients with HS. 29572776 2018
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease BEFREE Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family. 29505016 2018
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease BEFREE Mutations in at least five genes (ANK1, EPB42, SLC4A1, SPTA1, and SPTB) have been identified so far, and mutations of ANK1 gene are responsible for the majority of all HS cases. 29228571 2017
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease BEFREE The study clarifies ANK1 or SPTB mutational characteristics in HS Korean patients. 26830532 2016
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 Biomarker disease CTD_human Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. 19538529 2009
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease BEFREE The mutations of most cases of hereditary spherocytosis (HS) are located in the following genes: ANK1, SPTB, SLC4A1, EPB42 and SPTA1, which encode ankyrin, spectrin beta-chain, the anion exchanger 1 (band 3), protein 4.2 and spectrin alpha-chain, respectively. 12432217 2002
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 Biomarker disease CTD_human Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. 8102379 1993
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease BEFREE The only other genetic locus for HS is SPH2, on the short arm of chromosome 8 (8p11). 2141669 1990
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease CLINVAR
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 CausalMutation disease CLINVAR