| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H00104 | Alternative complement pathway component defects |
| H00821 | Age-related macular degeneration |
| H01434 | Atypical hemolytic uremic syndrome |
|
| Reference |
|
| Authors |
Slade C, Bosco J, Unglik G, Bleasel K, Nagel M, Winship I |
| Title |
Deficiency in complement factor B. |
| 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 |
|