Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C2936739
Disease: Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 		0.800 Biomarker CTD_human Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker CTD_human These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C2936739
Disease: Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 		0.800 GermlineCausalMutation ORPHANET Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 17676033

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C2936739
Disease: Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 		0.800 GermlineCausalMutation ORPHANET STAT3 mutations in the hyper-IgE syndrome. 17881745

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GermlineCausalMutation ORPHANET Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 17676033

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GermlineCausalMutation ORPHANET We identified missense mutations and single-codon in-frame deletions in STAT3 in 50 familial and sporadic cases of the hyper-IgE syndrome. 17881745

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation UNIPROT An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 Biomarker GENOMICS_ENGLAND Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994

2015
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation UNIPROT Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 Biomarker GENOMICS_ENGLAND Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GermlineCausalMutation ORPHANET Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 Biomarker CTD_human Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594

2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 Biomarker CTD_human

Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation UNIPROT Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. 26293184

2016
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 Biomarker GENOMICS_ENGLAND Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994

2015
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 Biomarker GENOMICS_ENGLAND Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation UNIPROT Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 23342295

2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 Biomarker GENOMICS_ENGLAND Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 20159255

2010
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation UNIPROT Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 17676033

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation UNIPROT STAT3 mutations in the hyper-IgE syndrome. 17881745

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C1955861
Disease: T-Cell Large Granular Lymphocyte Leukemia
T-Cell Large Granular Lymphocyte Leukemia 		0.600 SomaticCausalMutation ORPHANET Chronic lymphoproliferative disorder of NK-cells: A single-institution review with emphasis on relative utility of multimodality diagnostic tools. 29385279

2018
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C1955861
Disease: T-Cell Large Granular Lymphocyte Leukemia
T-Cell Large Granular Lymphocyte Leukemia 		0.600 SomaticCausalMutation ORPHANET The 2016 revision of the World Health Organization classification of lymphoid neoplasms. 26980727

2016
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C1955861
Disease: T-Cell Large Granular Lymphocyte Leukemia
T-Cell Large Granular Lymphocyte Leukemia 		0.600 CausalMutation CGI

Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C1968689
Disease: Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 		0.550 Biomarker CTD_human Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014