Disease: IMMUNODEFICIENCY 31B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 Biomarker disease CTD_human
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease UNIPROT Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. 12590259 2003
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease UNIPROT A novel form of human STAT1 deficiency impairing early but not late responses to interferons. 20841510 2010
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease CLINVAR STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. 22195034 2011
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease CLINVAR Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 21727188 2011
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease CLINVAR STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 21714643 2011
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 22730530 2012
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease UNIPROT New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 23709754 2013
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GermlineCausalMutation disease ORPHANET Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 23541320 2013
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GermlineCausalMutation disease ORPHANET Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. 23403048 2013
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GermlineCausalMutation disease ORPHANET Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 23534974 2013
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. 24343863 2014
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). 26255980 2015
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016