DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074163
rs120074163
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		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 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: rs120074163
rs120074163
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		0.800 GeneticVariation UNIPROT Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. 12554689 2003
dbSNP: rs120074163
rs120074163
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		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 		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
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs120074165
rs120074165
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C3888088
Disease:
SMITH-MCCORT DYSPLASIA 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs11664336
rs11664336
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs117406288
rs117406288
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12458127
rs12458127
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs16950303
rs16950303
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1787200
rs1787200
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2282546
rs2282546
Entrez Id: 54808;100129878
Gene Symbol: DYM;LOC100129878
DYM;LOC100129878
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3809924
rs3809924
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs494752
rs494752
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0205682
Disease:
Waist-Hip Ratio 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs7236575
rs7236575
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0424621
Disease:
Body Fat Distribution 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
dbSNP: rs7242873
rs7242873
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0205682
Disease:
Waist-Hip Ratio 		G 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs11659570
rs11659570
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs141793746
rs141793746
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0518026
Disease:
body fat percentage (physical finding) 		T 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs192446476
rs192446476
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs2878902
rs2878902
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs71355378
rs71355378
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs79943003
rs79943003
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs16950303
rs16950303
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015