| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Gain-of-function STAT1 mutations are associated with intracranial aneurysms. | 28161409 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis. | 28427548 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. | 26604104 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. | 26494717 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). | 26255980 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. | 24343863 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. | 23541320 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. | 21727188 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. | 21714643 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | In this study, we report two novel STAT1 GOF mutations of p.K278E in coiled-coil domain and p.G384D in DNA-binding domain in Japanese CMCD patients. | 25288569 | 2014 |