Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074163
rs120074163
DYM
0.800 GeneticVariation UNIPROT The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. 18996921

2009
dbSNP: rs120074163
rs120074163
DYM
0.800 GeneticVariation UNIPROT Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. 12554689

2003
dbSNP: rs120074163
rs120074163
DYM
0.800 GeneticVariation UNIPROT Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 12491225

2003
dbSNP: rs120074163
rs120074163
DYM
A 0.800 CausalMutation CLINVAR