DisGeNET - a database of gene-disease associations

CANDIDIASIS, FAMILIAL, 7, C3279990

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906758

STAT1

0.800

GeneticVariation

CLINVAR

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

28258222

2017

dbSNP:

rs587777630

STAT1

0.800

CausalMutation

CLINVAR

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

28597685

2017

dbSNP:

rs387906758

STAT1

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

STAT1

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

STAT1

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:

rs387906759

STAT1

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

STAT1

0.800

CausalMutation

CLINVAR

Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

26743090

2016

dbSNP:

rs587777630

STAT1

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

STAT1

0.800

GeneticVariation

CLINVAR

Orf Infection in a Patient with Stat1 Gain-of-Function.

25367169

2015

dbSNP:

rs387906758

STAT1

0.800

CausalMutation

CLINVAR

Orf Infection in a Patient with Stat1 Gain-of-Function.

25367169

2015

dbSNP:

rs387906758

STAT1

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:

rs387906759

STAT1

0.800

CausalMutation

CLINVAR

Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

26255980

2015

dbSNP:

rs387906759

STAT1

0.800

CausalMutation

CLINVAR

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

26494717

2015

dbSNP:

rs387906759

STAT1

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:

rs387906760

STAT1

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:

rs387906761

STAT1

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:

rs387906762

STAT1

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:

rs387906763

STAT1

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:

rs387906764

STAT1

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:

rs387906765

STAT1

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:

rs387906766

STAT1

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:

rs387906767

STAT1

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:

rs387906768

STAT1

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:

rs587777628

STAT1

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:

rs587777629

STAT1

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