DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Disease: SMITH-MCCORT DYSPLASIA 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074165
rs120074165
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C3888088
Disease:
SMITH-MCCORT DYSPLASIA 1 		0.800 GeneticVariation UNIPROT Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene. 19005420 2009
dbSNP: rs120074165
rs120074165
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C3888088
Disease:
SMITH-MCCORT DYSPLASIA 1 		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: rs120074165
rs120074165
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C3888088
Disease:
SMITH-MCCORT DYSPLASIA 1 		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: rs120074165
rs120074165
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C3888088
Disease:
SMITH-MCCORT DYSPLASIA 1 		G 0.800 CausalMutation CLINVAR