| Entry |
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|---|
| Name |
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| Type |
Gain of function
|
|---|
| Gene |
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 [KO: K12804]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
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|---|
| Network |
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|---|
| Disease |
| H00287 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N |
|---|
| Title |
Molecular biology of autoinflammatory diseases. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL |
|---|
| Title |
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. |
|---|
| Journal |
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|---|
| LinkDB |
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