Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.110 GeneticVariation disease BEFREE Recessive loss-of-function mutations in B3GALT6 result in a spectrum of disorders affecting a broad range of skeletal and connective tissues characterized by lax skin, muscle hypotonia, joint dislocation, and spinal deformity. 23664117 2013
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.110 Biomarker disease HPO