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: 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: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		0.010 Biomarker disease BEFREE The results revealed that βI spectrin was moderately to strongly positive in FNH and HA tissues, but was only weakly positive or lost in HCC cases and was weakly positive in all CC cases. 30798076 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 Biomarker disease BEFREE The results revealed that βI spectrin was moderately to strongly positive in FNH and HA tissues, but was only weakly positive or lost in HCC cases and was weakly positive in all CC cases. 30798076 2019
CUI: C0700636
Disease: Focal nodular hyperplasia of liver
Focal nodular hyperplasia of liver 		0.010 Biomarker disease BEFREE The results revealed that βI spectrin was moderately to strongly positive in FNH and HA tissues, but was only weakly positive or lost in HCC cases and was weakly positive in all CC cases. 30798076 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE We recently reported that βI spectrin expression was present in normal hepatocytes but lost in HCC cells, which suggested that spectrins may be helpful markers in diagnosis of HCC. 30798076 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023364
Disease: Leptospirosis
Leptospirosis 		0.020 Biomarker disease BEFREE In this study, the function and mechanism of Sph2 in the pathogenesis of leptospirosis were investigated to further understand the pathogenesis of leptospire. 30278102 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Real-time PCR analysis of expression levels during cell invasion showed that sph2 gene expression was transiently induced in human umbilical vein endothelial cells (HUVECs), human embryo liver cells (L02), and human epithelial lung cells (L132), with expression levels reaching a peak after 45 min of infection. 30278102 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 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 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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
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: 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: 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: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE The membrane-cytoskeletal protein 4.1N has recently been proposed as a tumor suppressor in a number of cancers of epithelial origin, including non-small-cell lung cancer (NSCLC). 27448302 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE The membrane-cytoskeletal protein 4.1N has recently been proposed as a tumor suppressor in a number of cancers of epithelial origin, including non-small-cell lung cancer (NSCLC). 27448302 2016
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