Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.100 CausalMutation group CLINVAR A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. 27117246 2018
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.100 CausalMutation group CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016