DisGeNET - a database of gene-disease associations

STAT3, signal transducer and activator of transcription 3, 6774

N. diseases: 1193; N. variants: 57

Disease: Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3489795
Disease:	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

0.500

GermlineCausalMutation

disease

ORPHANET

STAT3 mutations in the hyper-IgE syndrome.

17881745

2007

CUI:	C3489795
Disease:	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

0.500

GermlineCausalMutation

disease

ORPHANET

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

17676033

2007

CUI:	C3489795
Disease:	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

0.500

Biomarker

disease

CTD_human