Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
0.110 GeneticVariation phenotype BEFREE The fourth sibling had neither the STAT1 variant nor lymphadenopathy or malignancy. 31114772 2019
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
0.110 CausalMutation phenotype 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
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
0.110 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016