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