Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 GeneticVariation disease BEFREE Exome sequencing of a 6-year-old female patient with seizures, developmental delay, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS). 28229513 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 Biomarker disease HPO