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: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 28597685 2017
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 26743090 2016
dbSNP: rs587777630
rs587777630
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: rs587777630
rs587777630
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: rs587777630
rs587777630
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: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 23541320 2013
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 23709754 2013
dbSNP: rs587777630
rs587777630
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: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 22730530 2012
dbSNP: rs587777630
rs587777630
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: rs587777630
rs587777630
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