Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
0.020 GeneticVariation group BEFREE Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. 30554721 2019
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
0.020 GeneticVariation group BEFREE Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia. 26601923 2016