Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Biomarker disease HPO
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
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1
0.480 Biomarker disease HPO
Entrez Id: 2995
Gene Symbol: GYPC
GYPC
0.420 Biomarker disease HPO
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
0.130 Biomarker disease HPO
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
0.100 Biomarker disease HPO
Entrez Id: 23630
Gene Symbol: KCNE5
KCNE5
0.100 Biomarker disease HPO
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.100 Biomarker disease HPO
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
0.100 Biomarker disease HPO
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
0.100 Biomarker disease HPO
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: 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: 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: 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: 2038
Gene Symbol: EPB42
EPB42
0.300 Biomarker disease GENOMICS_ENGLAND A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 7772513 1995
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
0.300 Biomarker disease GENOMICS_ENGLAND An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 1558976 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: 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: 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: 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: 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: 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