Disease: CANDIDIASIS, FAMILIAL, 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 28258222 2017
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation 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
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation 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
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation 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
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 23709754 2013
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 23541320 2013
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. 22847544 2012
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. 22195034 2011
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 21727188 2011
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 21727188 2011
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 CausalMutation CLINVAR