Disease: IMMUNODEFICIENCY 31A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 Biomarker disease GENOMICS_ENGLAND Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. 29702748 2019
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 28258222 2017
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 28597685 2017
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 28258222 2017
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		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
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		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
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 26743090 2016
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 27114460 2016
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		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
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). 26255980 2015
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. 26494717 2015
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. 24343863 2014
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 23541320 2013
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		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
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 23541320 2013
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease UNIPROT Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. 22573496 2012
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. 22847544 2012
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 22730530 2012
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. 22195034 2011
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 CausalMutation disease CLINVAR STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 21727188 2011
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease CLINVAR STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 GeneticVariation disease UNIPROT Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. 16934001 2006