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 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: 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 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 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 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 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: 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 GeneticVariation disease BEFREE The correlation between microscopical examination and erythrocyte band 3 (AE1) gene deletion in South-east Asian ovalocytosis. 9861402 1998
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1
0.480 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: 6708
Gene Symbol: SPTA1
SPTA1
0.480 GeneticVariation disease BEFREE A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report. 31145309 2019
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1
0.480 GeneticVariation disease BEFREE Genotyping identified a unique SPTA intragenic crossover and uniparental disomy in one hereditary elliptocytosis individual. 24077844 2013
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1
0.480 GeneticVariation disease BEFREE It results in the aggravated expression of hereditary elliptocytosis due to SPTA1 gene mutations occurring in trans. 10192450 1999
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1
0.480 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: 6708
Gene Symbol: SPTA1
SPTA1
0.480 GeneticVariation disease BEFREE Furthermore, a novel SPTA1 mutation (H54P) was identified; it is a nonsynonymous SNV and is associated with hereditary elliptocytosis (HE). 28694211 2017
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1
0.480 GeneticVariation disease BEFREE Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. 29484404 2018
Entrez Id: 2995
Gene Symbol: GYPC
GYPC
0.420 GeneticVariation disease BEFREE The association of the glycophorin C exon 3 deletion with ovalocytosis and malaria susceptibility in the Wosera, Papua New Guinea. 11719395 2001
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
0.130 GeneticVariation disease BEFREE Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. 28089922 2017
Entrez Id: 1378
Gene Symbol: CR1
CR1
0.020 GeneticVariation disease BEFREE Some of the mechanisms underlying protection against this disease are described in this review for hemoglobin-inherited disorders (thalassemia, sickle-cell trait, HbC and HbE), erythrocyte polymorphisms (ovalocytosis and Duffy blood group), enzymopathies (G6PD deficiency and PK deficiency) and immunogenetic variants (HLA alleles, complement receptor 1, NOS2, tumor necrosis factor-α promoter and chromosome 5q31-q33 polymorphisms). 20655368 2010
Entrez Id: 100188864
Gene Symbol: IH
IH
0.010 GeneticVariation disease BEFREE We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first reported by Zarkowsky and colleagues (1975.Br.J. Haematol.29:537-543). 1541680 1992
Entrez Id: 692226
Gene Symbol: SNORD96B
SNORD96B
0.010 GeneticVariation disease BEFREE In this article, we present two unrelated male patients with short stature, mild intellectual disability or neurodevelopmental delay, sensorineural hearing loss, and elliptocytosis harboring small microdeletions identified by array-CGH involving TMEM164 and AMMECR1 genes and SNORD96B small nucleolar RNA for one patient, inherited from their mothers. 30737907 2019
Entrez Id: 7368
Gene Symbol: UGT8
UGT8
0.010 GeneticVariation disease BEFREE Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. 2328319 1990
Entrez Id: 286
Gene Symbol: ANK1
ANK1
0.010 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: 847
Gene Symbol: CAT
CAT
0.010 GeneticVariation disease BEFREE Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. 2328319 1990