Entry |
|
Name |
|
Type |
Loss of function
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
|
Disease |
H00106 | Complement regulatory protein defects |
H00821 | Age-related macular degeneration |
H01434 | Atypical hemolytic uremic syndrome |
|
Reference |
|
Authors |
Heiderscheit AK, Hauer JJ, Smith RJH |
Title |
C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. |
Journal |
|
Reference |
|
Authors |
Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ |
Title |
The molecular basis of hereditary complement factor I deficiency. |
Journal |
|
Reference |
|
Authors |
Park DH, Connor KM, Lambris JD |
Title |
The Challenges and Promise of Complement Therapeutics for Ocular Diseases. |
Journal |
|
Reference |
|
Authors |
Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M |
Title |
Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. |
Journal |
|
LinkDB |
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