Disease: Elliptocytosis, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		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
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.830 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		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
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		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
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.830 Biomarker disease MGD Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. 9927493 1999
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		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
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		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
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.830 CausalMutation disease CLINVAR
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.830 Biomarker disease HPO