Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1
0.100 CausalMutation phenotype CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909 2017