Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 GeneticVariation disease BEFREE Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). 27667160 2016
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 GeneticVariation disease BEFREE Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis. 21839655 2011
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 GeneticVariation disease BEFREE The mutations responsible for hereditary elliptocytosis (HE) and its aggravated form, poikilocytosis (HP), lie in the SPTA1 and SPTB gene, already mentioned, and in the EPB41 gene encoding protein 4.1. 12432217 2002
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 Biomarker disease MGD Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. 9927493 1999
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 Biomarker disease GENOMICS_ENGLAND Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. 1430200 1992
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 Biomarker disease GENOMICS_ENGLAND Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families. 3134067 1988
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 CausalMutation disease CLINVAR
Entrez Id: 2035
Gene Symbol: EPB41
EPB41
0.830 Biomarker disease HPO
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
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
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.750 Biomarker disease GENOMICS_ENGLAND Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. 27906107 2016
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
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
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.750 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
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
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
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
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
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
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
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
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
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
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.750 Biomarker disease HPO
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.620 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
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.620 Biomarker disease GENOMICS_ENGLAND Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 9600966 1998
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.620 GeneticVariation disease BEFREE The correlation between microscopical examination and erythrocyte band 3 (AE1) gene deletion in South-east Asian ovalocytosis. 9861402 1998
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.620 Biomarker disease CTD_human Molecular basis for membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3. 1737855 1992
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.620 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.620 Biomarker disease HPO