rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
Gain-of-function STAT1 mutations are associated with intracranial aneurysms.
|
28161409 |
2017 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.
|
28427548 |
2017 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
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 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.
|
26494717 |
2015 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).
|
26255980 |
2015 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.
|
24343863 |
2014 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
|
23541320 |
2013 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
|
21727188 |
2011 |
rs387906759
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
A |
0.700 |
CausalMutation |
CLINVAR |
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
|
21714643 |
2011 |
rs387906760
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796065052
|
Entrez Id: |
6772 |
Gene Symbol: |
STAT1 |
STAT1
|
Candidiasis, Chronic Mucocutaneous
|
|
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 |