CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
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.
Dysfunctional alternative complement pathway
phenotype Finding 1 0.100 None 0
CUI: C1839455
Disease: Properdin Deficiency, Type II
Properdin Deficiency, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C1839456
Disease: Properdin Deficiency, Type III
Properdin Deficiency, Type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 1 0.100 None 0 1
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 strong 1.000 1 1980 1980
Rapidly progressive glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 1984 1984
Idiopathic rapidly progressive glomerulonephritis
disease Disease or Syndrome 2 0.010 None 1.000 1 1984 1984
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.010 None 1.000 1 1993 1993
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 74 46 0.010 None 1.000 1 1994 1994
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections
group Infections Disease or Syndrome 69 32 0.020 None 1.000 2 1998 1999
Meningitis, Meningococcal, Serogroup W-135
disease Infections; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 1995 2000
Meningitis, Meningococcal, Serogroup C
disease Infections; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 1995 2000
Meningitis, Meningococcal, Serogroup B
disease Infections; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 1995 2000
Meningitis, Meningococcal, Serogroup A
disease Infections; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 1995 2000
Meningitis, Meningococcal, Serogroup Y
disease Infections; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 1995 2000
CUI: C0025294
Disease: Meningococcal meningitis
Meningococcal meningitis
disease Infections; Nervous System Diseases Disease or Syndrome 17 3 0.300 None 1.000 2 1995 2000
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2004 2004
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease
disease Disease or Syndrome 4 0.510 strong 1.000 3 1980 2006
CUI: C0023343
Disease: Leprosy
Leprosy
disease Infections Disease or Syndrome 190 120 0.020 None 1.000 2 2004 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2007 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2007 2007
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2008 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.020 None 0.500 2 1 2010 2012
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 2012 2012