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
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 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: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease BEFREE Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability. 25652408 2015
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 GermlineCausalMutation disease ORPHANET Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. 21280149 2011
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease BEFREE DYM is the causal gene for Dyggve-Melchior-Clausen syndrome and this study shows the second neuropsychiatric disorder in which the DYM gene is involved. 20555340 2010
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 GermlineCausalMutation disease ORPHANET These data indicate that DMC results from a loss-of-function of Dymeclin, a novel peripheral membrane protein which shuttles rapidly between the cytosol and mature Golgi membranes and point out a role of Dymeclin in cellular trafficking. 18996921 2009
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease BEFREE These data indicate that DMC results from a loss-of-function of Dymeclin, a novel peripheral membrane protein which shuttles rapidly between the cytosol and mature Golgi membranes and point out a role of Dymeclin in cellular trafficking. 18996921 2009
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 GeneticVariation disease UNIPROT These data indicate that DMC results from a loss-of-function of Dymeclin, a novel peripheral membrane protein which shuttles rapidly between the cytosol and mature Golgi membranes and point out a role of Dymeclin in cellular trafficking. 18996921 2009
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 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: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 GeneticVariation disease BEFREE We studied three consanguineous families from Turkey, Lebanon, and Georgia, one with SMC and two with DMC and identified different homozygous DYM mutations (IVS3 194-1G > A, 938_942delTGTCT) in the DMC families. 16470731 2006
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease BEFREE Similarities with DMC prompted us to test and eventually exclude the DMC gene, dymeclin, by direct sequencing. 15726110 2005
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease GENOMICS_ENGLAND Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. 16097008 2005
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 GermlineCausalMutation disease ORPHANET We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families. 12554689 2003
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 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: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 GeneticVariation disease UNIPROT Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 12491225 2003
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease BEFREE We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families. 12554689 2003
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 GeneticVariation disease UNIPROT We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families. 12554689 2003
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease CTD_human
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome
0.780 Biomarker disease GENOMICS_ENGLAND