Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777650
rs587777650
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease:
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: rs587777650
rs587777650
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750 2014
dbSNP: rs587777650
rs587777650
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		G 0.800 CausalMutation CLINVAR