Disease: Hereditary spherocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 GeneticVariation disease BEFREE With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. 29402830 2019
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 Biomarker disease LHGDN Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47. 12393467 2003
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 GeneticVariation disease BEFREE The mutations of most cases of hereditary spherocytosis (HS) are located in the following genes: ANK1, SPTB, SLC4A1, EPB42 and SPTA1, which encode ankyrin, spectrin beta-chain, the anion exchanger 1 (band 3), protein 4.2 and spectrin alpha-chain, respectively. 12432217 2002