Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
0.420 GeneticVariation disease BEFREE To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. 30765867 2019
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
0.420 GeneticVariation disease BEFREE De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. 28296084 2017
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
0.420 Biomarker disease GENOMICS_ENGLAND Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604 2015
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
0.420 Biomarker disease HPO