×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.
29702748
2019
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
28258222
2017
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.
28597685
2017
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
28258222
2017
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
26242301
2016
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
26604104
2016
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
26604104
2016
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
26743090
2016
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
27114460
2016
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.
26494717
2015
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
Orf Infection in a Patient with Stat1 Gain-of-Function.
25367169
2015
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
UNIPROT
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
26514428
2015
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
Orf Infection in a Patient with Stat1 Gain-of-Function.
25367169
2015
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).
26255980
2015
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
UNIPROT
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
25288569
2014
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.
24343863
2014
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
23709754
2013
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
UNIPROT
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
23709754
2013
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GermlineCausalMutation
disease
ORPHANET
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
23534974
2013
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
23541320
2013
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
23541320
2013
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.
22847544
2012
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
22730530
2012
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
CausalMutation
disease
CLINVAR
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
21714643
2011
×
Entrez Id:
6772
Gene Symbol:
STAT1
STAT1
0.700
GeneticVariation
disease
CLINVAR
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.
22195034
2011