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Browse result for autosomal dominant familial periodic fever
※ introduction A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.
Reference
DiseaseOntology: autosomal dominant familial periodic fever
Reference
DiseaseOntology: autosomal dominant familial periodic fever
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01543 | P19438 | 7132 | TNFRSF1A | Tumor necrosis factor receptor superfamily member 1A [Cleaved into: Tumor necrosis factor receptor superfamily member 1A, membrane form; Tumor necrosis factor-binding protein 1 ] | Homo sapiens |
| PTMD02999 | O75083 | 9948 | WDR1 | WD repeat-containing protein 1 | Homo sapiens |