DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 ×

Variant: rs869312892 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869312892

STAT3

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.

28073828

2017

dbSNP:

rs869312892

STAT3

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

CausalMutation

CLINVAR

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

25359994

2015

dbSNP:

rs869312892

STAT3

CUI:	C4014795
Disease:	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

25038750

2014