Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. 29484404 2018
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 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 Biomarker 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: 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 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
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 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 Biomarker disease HPO
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: 2995
Gene Symbol: GYPC
GYPC
0.420 GermlineCausalMutation disease ORPHANET We used naturally mutated red blood cells (RBCs) with primary genetic defects resulting in the absence of protein 4.1 (4.1[-] hereditary elliptocytosis) or glycophorin C (Leach elliptocytosis). 8353290 1993
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: 2995
Gene Symbol: GYPC
GYPC
0.420 Biomarker disease HPO
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: 9949
Gene Symbol: AMMECR1
AMMECR1
0.130 Biomarker disease BEFREE These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature. 30737907 2019
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
0.130 Biomarker disease BEFREE Our results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis. 29193635 2018
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: 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