| Entry |
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| Name |
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| Type |
Loss of function
|
|---|
| Gene |
CFI complement factor I isoform 2 preproprotein [KO: K01333]
|
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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 |
|
|---|
| Reference |
|
|---|
| Authors |
Heiderscheit AK, Hauer JJ, Smith RJH |
|---|
| Title |
C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. |
|---|
| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ |
|---|
| Title |
The molecular basis of hereditary complement factor I deficiency. |
|---|
| 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 |
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| LinkDB |
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