CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: BASAL LAMINAR DRUSEN (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 GeneticVariation disease BEFREE We detected rare sequence variants in CFH and FBLN5, which previously were shown to harbor rare variants in patients with CD. 27007659 2016
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 Biomarker disease BEFREE The CFH gene was analyzed in 180 CD cases with Sanger sequencing. 25814826 2015
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 GeneticVariation disease BEFREE To identify novel complement factor H (CFH) gene mutations and to specify the clinical characteristics in patients with basal laminar drusen (BLD), a clinical subtype of age-related macular degeneration. 22491393 2012
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 GeneticVariation disease BEFREE In patients with CD, the association with the CFH Y402H risk allele was significantly higher (p=0.022), whereas the association with current smoking was significantly lower (p<0.001) than in the heterogeneous group of patients with "non-CD" AMD. 22933840 2012
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 GeneticVariation disease BEFREE The cuticular drusen phenotype is highly associated with the Tyr402His variant of the complement factor H (CFH) gene. 17210858 2007
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 Biomarker disease GENOMICS_ENGLAND
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 CausalMutation disease CLINVAR
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.650 Biomarker disease CTD_human