| Entry |
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| Name |
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| Type |
Gain of function
|
|---|
| 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 |
| H02588 | NLRP1-associated autoinflammation with arthritis and dyskeratosis |
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| Reference |
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|---|
| Authors |
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N |
|---|
| Title |
Molecular biology of autoinflammatory diseases. |
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| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL |
|---|
| Title |
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. |
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| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Levandowski CB, Mailloux CM, Ferrara TM, Gowan K, Ben S, Jin Y, McFann KK, Holland PJ, Fain PR, Dinarello CA, Spritz RA |
|---|
| Title |
NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1beta processing via the NLRP1 inflammasome. |
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| Journal |
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| LinkDB |
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