Source: ORPHANET

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 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: 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: 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: C3489795
Disease: Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 		0.500 GermlineCausalMutation ORPHANET STAT3 mutations in the hyper-IgE syndrome. 17881745

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3489795
Disease: Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 		0.500 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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.330 FusionGene ORPHANET Identification of novel recurrent STAT3-RARA fusions in acute promyelocytic leukemia lacking t(15;17)(q22;q12)/PML-RARA. 29237593

2018
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C1512709
Disease: Chronic Lymphoproliferative Disorder of NK-Cells
Chronic Lymphoproliferative Disorder of NK-Cells 		0.330 GermlineCausalMutation 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: C2930809
Disease: Neutropenia and hyperlymphocytosis with large granular lymphocytes
Neutropenia and hyperlymphocytosis with large granular lymphocytes 		0.300 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: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.300 GermlineCausalMutation ORPHANET An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C2930809
Disease: Neutropenia and hyperlymphocytosis with large granular lymphocytes
Neutropenia and hyperlymphocytosis with large granular lymphocytes 		0.300 SomaticCausalMutation ORPHANET The 2016 revision of the World Health Organization classification of lymphoid neoplasms. 26980727

2016