| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00102 | Classic complement pathway component defects |
| H00821 | Age-related macular degeneration |
|
|---|
| Reference |
|
|---|
| Authors |
Wetsel RA, Kulics J, Lokki ML, Kiepiela P, Akama H, Johnson CA, Densen P, Colten HR |
|---|
| Title |
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Park DH, Connor KM, Lambris JD |
|---|
| Title |
The Challenges and Promise of Complement Therapeutics for Ocular Diseases. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
