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Browse result for Severe combined immunodeficiency
※ introduction A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
Reference
DiseaseOntology: Severe combined immunodeficiency
Reference
DiseaseOntology: Severe combined immunodeficiency
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01593 | P31785 | 3561 | IL2RG | Cytokine receptor common subunit gamma | Homo sapiens |
| PTMD01102 | P52333 | 3718 | JAK3 | Tyrosine-protein kinase JAK3 | Homo sapiens |
| PTMD03603 | P00813 | 100 | ADA | Adenosine deaminase | Homo sapiens |
| PTMD12999 | Q9H9Q4 | 79840 | NHEJ1 | Non-homologous end-joining factor 1 | Homo sapiens |