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: 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: 2539
Gene Symbol: G6PD
G6PD
0.010 Biomarker disease BEFREE We report the distribution of two genetic traits, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and hereditary ovalocytosis (HO) in a number of populations living in the Ok Tedi impact region of Papua New Guinea. 2807263 1989
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: 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: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker disease BEFREE Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. I. Biochemical identification of rearrangements in the spectrin/actin binding domain and functional characterizations. 2384597 1990
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
Entrez Id: 2995
Gene Symbol: GYPC
GYPC
0.420 Biomarker disease BEFREE Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 1884026 1991
Entrez Id: 2995
Gene Symbol: GYPC
GYPC
0.420 GermlineCausalMutation disease ORPHANET Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 1884026 1991
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: 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: 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: 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