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: 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: 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: 81704
Gene Symbol: DOCK8
DOCK8
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.400 Biomarker CTD_human

Entrez Id: 3458
Gene Symbol: IFNG
IFNG
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.330 Biomarker CTD_human Hyper-IgE syndrome is not associated with defects in several candidate toll-like receptor pathway genes. 16112032

2005
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.300 Biomarker GENOMICS_ENGLAND A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. 29907691

2018