IL7R, interleukin 7 receptor, 3575
N. diseases: 231; N. variants: 41
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
|
0.700 | CausalMutation | disease | CLINVAR | A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. | 27833609 | 2016 |
|
0.700 | GeneticVariation | disease | CLINVAR | Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis. | 26123418 | 2015 |
|
0.700 | CausalMutation | disease | CLINVAR | Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. | 24759676 | 2014 |
|
0.700 | CausalMutation | disease | CLINVAR | Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. | 25046553 | 2014 |
|
0.700 | GeneticVariation | disease | CLINVAR | Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. | 21664875 | 2011 |
|
0.700 | CausalMutation | disease | CLINVAR | IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. | 17827065 | 2007 |
|
0.700 | CausalMutation | disease | CLINVAR | Omenn syndrome in an infant with IL7RA gene mutation. | 16492442 | 2006 |
|
0.700 | CausalMutation | disease | CLINVAR | Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. | 15661025 | 2005 |
|
0.700 | GeneticVariation | disease | UNIPROT | A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. | 11023514 | 2000 |
|
0.700 | CausalMutation | disease | CLINVAR | Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. | 9843216 | 1998 |
|
0.700 | GeneticVariation | disease | UNIPROT | Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. | 9843216 | 1998 |
|
0.700 | Biomarker | disease | CTD_human | |||
|
0.700 | GermlineCausalMutation | disease | ORPHANET |