Disease: Hemolytic-Uremic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.110 GeneticVariation disease BEFREE Direct sequencing of MMACHC identified homozygous mutation, c.271dup A. CblC deficiency is an important cause of early-onset HUS and prompt diagnosis will provide specific treatment modalities. 31137025 2019
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.110 Biomarker disease HPO