CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.200 None 1.000 25 3 2005 2019
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.100 None 0.864 22 7 2008 2017
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		disease Disease or Syndrome 16 1 0.400 strong 1.000 15 1 2012 2018
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		disease Finding 4 24 0.600 strong 1.000 11 23 1998 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.070 None 1.000 7 1 1999 2010
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		disease Disease or Syndrome 10 10 0.060 None 0.667 6 4 2013 2019
CUI: C1720452
Disease: Soft drusen
Soft drusen 		disease Disease or Syndrome 10 5 0.040 None 1.000 4 1 2006 2018
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation 		disease Disease or Syndrome 12 4 0.040 None 1.000 4 2 2007 2017
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.040 None 1.000 4 2010 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.030 None 1.000 3 2010 2017
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.030 None 1.000 3 2010 2017
CUI: C0240805
Disease: Prodrome
Prodrome 		phenotype Sign or Symptom 10 0.020 None 1.000 2 2014 2015
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2018 2020
CUI: C1533060
Disease: Multifocal choroiditis
Multifocal choroiditis 		disease Disease or Syndrome 5 1 0.020 None 1.000 2 1 2008 2013
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.020 None 1.000 2 1 2016 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 19 2018 2018
CUI: C3888461
Disease: Dry age-related macular degeneration
Dry age-related macular degeneration 		phenotype Anatomical Abnormality 11 1 0.020 None 1.000 2 1 2006 2013
CUI: C3888896
Disease: Wet age-related macular degeneration
Wet age-related macular degeneration 		disease Disease or Syndrome 20 2 0.020 None 1.000 2 1 2013 2015
CUI: C4703391
Disease: Choroidal vascular hyperpermeability
Choroidal vascular hyperpermeability 		phenotype Anatomical Abnormality 5 3 0.020 None 1.000 2 2 2014 2016
CUI: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		disease Acquired Abnormality 43 0.010 None 1.000 1 2018 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 1 2018 2018
CUI: C0272241
Disease: Complement abnormality
Complement abnormality 		disease Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
CUI: C0343381
Disease: Verotoxigenic Escherichia coli gastrointestinal tract infection
Verotoxigenic Escherichia coli gastrointestinal tract infection 		disease Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease 		disease Disease or Syndrome 4 0.010 None 1.000 1 2013 2013