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 Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. 29702748 2019
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		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 Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. 29702748 2019
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. 27117246 2018
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease CLINVAR Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 28258222 2017
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 28597685 2017
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		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: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 CausalMutation disease CLINVAR A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 28597685 2017
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		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 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: 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
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 GeneticVariation disease CLINVAR Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 27114460 2016
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 CausalMutation disease CLINVAR Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 26743090 2016
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		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: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		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: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		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: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		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: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 CausalMutation disease CLINVAR Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 26743090 2016
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		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 CausalMutation disease CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016