rs193922641, IL7R
N. diseases: 3
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year |
|---|---|---|---|---|---|---|---|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
0.700 | CausalMutation | CLINVAR | A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. | 27833609 | 2016 | |
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
0.700 | CausalMutation | CLINVAR | Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. | 24759676 | 2014 | |
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
0.700 | CausalMutation | CLINVAR | IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. | 17827065 | 2007 | |
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
0.700 | CausalMutation | CLINVAR | Omenn syndrome in an infant with IL7RA gene mutation. | 16492442 | 2006 | |
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
0.700 | CausalMutation | 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 |