| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00080 | Systemic lupus erythematosus |
| H00290 | Aicardi-Goutieres syndrome |
| H00291 | Familial chilblain lupus (FCL) |
| H01000 | Retinal vasculopathy with cerebral leukodystrophy |
|
|---|
| Reference |
|
|---|
| Authors |
Motwani M, Pesiridis S, Fitzgerald KA |
|---|
| Title |
DNA sensing by the cGAS-STING pathway in health and disease. |
|---|
| 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 |
|
|---|
| LinkDB |
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|---|
