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Browse result for T-cell immunodeficiency
※ introduction A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
Reference
DiseaseOntology: T-cell immunodeficiency
Reference
DiseaseOntology: T-cell immunodeficiency
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00122 | Q13043 | 6789 | STK4 | Serine/threonine-protein kinase 4 [Cleaved into: Serine/threonine-protein kinase 4 37kDa subunit ; Serine/threonine-protein kinase 4 18kDa subunit ] | Homo sapiens |
| PTMD02567 | O15353 | 8456 | FOXN1 | Forkhead box protein N1 | Homo sapiens |