JAK3, Janus kinase 3, 3718
N. diseases: 194; N. variants: 28
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
|
0.600 | GeneticVariation | disease | UNIPROT | Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. | 14615376 | 2004 |
|
0.600 | GeneticVariation | disease | UNIPROT | Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. | 10982185 | 2000 |
|
0.600 | GeneticVariation | disease | UNIPROT | Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. | 9753072 | 1998 |
|
0.600 | GeneticVariation | disease | UNIPROT | Structural and functional basis for JAK3-deficient severe combined immunodeficiency. | 9354668 | 1997 |
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. | 7481768 | 1995 |
|
0.600 | GeneticVariation | disease | UNIPROT | Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). | 7659163 | 1995 |
|
0.600 | Biomarker | disease | CTD_human | |||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | |||
|
0.600 | GermlineCausalMutation | disease | ORPHANET |