Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 51365
Gene Symbol: PLA1A
PLA1A
0.010 Biomarker 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: 7124
Gene Symbol: TNF
TNF
0.010 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: 119
Gene Symbol: ADD2
ADD2
0.010 AlteredExpression disease BEFREE Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. 10845937 2000
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: 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: 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: 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: 1378
Gene Symbol: CR1
CR1
0.020 Biomarker disease BEFREE Linear mixed models were used to investigate the effect of alpha+-thalassaemia, complement receptor-1 and south-east Asian ovalocytosis, as well as glucose-6-phosphate dehydrogenase deficiency and ABO blood group on parasitaemia and age-specific seroconversion to VSA. 18173836 2008
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: 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: 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: 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