CFB, complement factor B, 629

N. diseases: 139; N. variants: 24
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 0.700 limited 0.966 58 12 2006 2019
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 0.600 None 1.000 12 2 1972 2019
CUI: C2752038
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 		disease Finding 2 6 0.600 strong 1.000 5 6 2007 2016
CUI: C3809950
Disease: COMPLEMENT FACTOR B DEFICIENCY
COMPLEMENT FACTOR B DEFICIENCY 		disease Disease or Syndrome 2 2 0.600 moderate 1.000 1 2 1972 1972
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.400 None 1.000 4 1 2008 2015
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.400 None 1.000 2 1 1983 2012
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 110 7 0.400 strong 1.000 1 2016 2016
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 57 3 0.310 strong 1.000 2 2016 2017
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 moderate 1.000 1 1972 1972
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2009 2009
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		disease Disease or Syndrome 16 1 0.300 strong 1.000 1 2016 2016
CUI: C0751340
Disease: Myasthenia Gravis, Ocular
Myasthenia Gravis, Ocular 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 1983 1983
CUI: C0751339
Disease: Myasthenia Gravis, Generalized
Myasthenia Gravis, Generalized 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 1983 1983
CUI: C3809653
Disease: MACULAR DEGENERATION, AGE-RELATED, 14
MACULAR DEGENERATION, AGE-RELATED, 14 		disease Disease or Syndrome 2 0.300 None 0
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.200 None 0.917 12 2 1979 2015
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.200 None 1.000 1 2011 2011
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.200 None 1.000 1 2014 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.140 None 0.857 7 7 1985 2015
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.140 None 1.000 5 1 2008 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.120 None 1.000 3 2 2014 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.110 None 1.000 2 2 2012 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.110 None 1.000 2 1 1979 2007
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 415 84 0.110 None 1.000 1 1 2015 2015
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 4 2018 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.100 None 1.000 1 1 2012 2012