CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1065489
rs1065489
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE We reported here the clinical course of aHUS patients with CFH mutations (p.Glu936Asp, Val 1197Ala) and a novel mutation (Glu927Lys) which caused  previously defined aHUS. 31705748 2019