CFHR4, complement factor H related 4, 10877

N. diseases: 11; N. variants: 15
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.420 moderate 1.000 8 12 2008 2018
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 moderate 0
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 1.000 1 1 2019 2019
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 3 2013 2013
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement
phenotype Laboratory Procedure 14 26 0.100 None 1.000 1 1 2013 2013
CUI: C0523688
Disease: Hemopexin measurement
Hemopexin measurement
phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2017 2017
CUI: C0423791
Disease: Maculopapular Lesion
Maculopapular Lesion
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Finding 16 28 0.100 None 1.000 1 1 2018 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 2 2018 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None 1.000 1 1 2011 2011
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None 1.000 1 2008 2008
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.010 None 1.000 1 2019 2019