| 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 |
| H00104 | Alternative complement pathway component defects |
| H00821 | Age-related macular degeneration |
| H01434 | Atypical hemolytic uremic syndrome |
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| Reference |
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| Authors |
Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR |
|---|
| Title |
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. |
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| Journal |
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| Reference |
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|---|
| Authors |
Servais A, Fremeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grunfeld JP, Lesavre P, Noel LH, Fakhouri F |
|---|
| Title |
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. |
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| Journal |
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| Reference |
|
|---|
| Authors |
Armento A, Ueffing M, Clark SJ |
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| Title |
The complement system in age-related macular degeneration. |
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| Journal |
|
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| Reference |
|
|---|
| Authors |
Park DH, Connor KM, Lambris JD |
|---|
| Title |
The Challenges and Promise of Complement Therapeutics for Ocular Diseases. |
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| Journal |
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| LinkDB |
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