Disease: Candidiasis, Chronic Mucocutaneous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
Candidiasis, Chronic Mucocutaneous 		A 0.700 CausalMutation CLINVAR Gain-of-function STAT1 mutations are associated with intracranial aneurysms. 28161409 2017
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
Candidiasis, Chronic Mucocutaneous 		A 0.700 CausalMutation CLINVAR Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis. 28427548 2017
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
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
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
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
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
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
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
Candidiasis, Chronic Mucocutaneous 		A 0.700 CausalMutation CLINVAR Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. 24343863 2014
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
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
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
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
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0006845
Disease:
Candidiasis, Chronic Mucocutaneous 		A 0.700 CausalMutation CLINVAR STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011