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: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 GeneticVariation disease BEFREE Genotype-phenotype correlation was clarified after combined analysis of the cases and the literature review; anemia was most severe in HS patients with mutations on the ANK1 spectrin-binding domain (p < 0.05), and SPTB mutations in HS patients spared the tetramerization domain in which mutations of hereditary elliptocytosis and pyropoikilocytosis are located. 26830532 2016
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 Biomarker disease GENOMICS_ENGLAND Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. 27906107 2016
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 GeneticVariation disease 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: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 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 		0.750 GeneticVariation disease BEFREE Whereas in HS, the SPTA1 and SPTB gene mutations tend to abolish the synthesis of the corresponding chains, in HE/HP, they hinder spectrin tetramerization. 12432217 2002
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 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: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 GeneticVariation disease BEFREE Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene. 1498324 1992
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 Biomarker disease CTD_human 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: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 Biomarker disease HPO
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. 27906107 2016
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 GeneticVariation disease UNIPROT Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. 19538529 2009
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 GeneticVariation disease CLINVAR beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism. 11703334 2001
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 CausalMutation disease CLINVAR Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene. 9714702 1998
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 GeneticVariation disease CLINVAR Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. 8844207 1996
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 GeneticVariation disease CLINVAR Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 7883966 1995
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 GeneticVariation disease UNIPROT Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. 8102379 1993
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 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: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 Biomarker disease CTD_human
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