Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). 29180260

2018
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994

2015
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation. 26343524

2015
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR 54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts. 26394394

2015
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Inborn errors of human JAKs and STATs. 22520845

2012
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 22751495

2012
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 20159255

2010
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 18602572

2008
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745

2007