Dysfunctional alternative complement pathway
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
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 |
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 |
Juvenile Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
74
|
46
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
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 |
Meningococcal meningitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
17
|
3
|
0.300 |
None |
1.000 |
2 |
|
1995 |
2000 |
Immunosuppression
|
disease |
|
Disease or Syndrome
|
632
|
9
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Properdin deficiency disease
|
disease |
|
Disease or Syndrome
|
4
|
|
0.510 |
strong |
1.000 |
3 |
|
1980 |
2006 |
Leprosy
|
disease |
Infections
|
Disease or Syndrome
|
190
|
120
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2006 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Vascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
688
|
40
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.020 |
None |
0.500 |
2 |
1
|
2010 |
2012 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |