Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
0.100 CausalMutation group CLINVAR A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. 25486376 2015
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
0.100 CausalMutation group CLINVAR Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 22539336 2012
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
0.100 CausalMutation group CLINVAR CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. 21037275 2011