| Entry |
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| Name |
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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 |
| H00102 | Classic complement pathway component defects |
| H00821 | Age-related macular degeneration |
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| Reference |
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| Authors |
Wetsel RA, Kulics J, Lokki ML, Kiepiela P, Akama H, Johnson CA, Densen P, Colten HR |
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| Title |
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. |
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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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| LinkDB |
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