DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
0.820 GeneticVariation disease BEFREE Smith-McCort dysplasia (SMC OMIM 615222) and Dyggve-Melchior-Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations in DYM (OMIM 607461). 28127940 2017
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
0.820 Biomarker disease MGD Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species. 18852472 2008
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
0.820 Biomarker disease BEFREE Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species. 18852472 2008
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
0.820 GermlineCausalMutation disease ORPHANET Recent advances in Dyggve-Melchior-Clausen syndrome. 15464420 2005
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
0.820 GermlineCausalMutation disease ORPHANET Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 12491225 2003
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
0.820 Biomarker disease GENOMICS_ENGLAND
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA
0.820 Biomarker disease CTD_human