DST, dystonin, 667

N. diseases: 147; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1242078669
rs1242078669
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1330945347
rs1330945347
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1562435373
rs1562435373
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs201871537
rs201871537
Entrez Id: 667;101930010
Gene Symbol: DST;DST-AS1
DST;DST-AS1
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs398122819
rs398122819
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		C 0.700 CausalMutation CLINVAR
dbSNP: rs398122943
rs398122943
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs577972555
rs577972555
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs577972555
rs577972555
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		A 0.700 CausalMutation CLINVAR
dbSNP: rs748899221
rs748899221
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		G 0.700 CausalMutation CLINVAR
dbSNP: rs748899221
rs748899221
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs759006806
rs759006806
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs770035646
rs770035646
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		A 0.700 CausalMutation CLINVAR
dbSNP: rs770035646
rs770035646
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs778397331
rs778397331
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs778397331
rs778397331
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201045495
rs201045495
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		A 0.700 CausalMutation CLINVAR A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. 20164846 2010
dbSNP: rs201045495
rs201045495
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. 20164846 2010
dbSNP: rs758637408
rs758637408
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C0030805
Disease:
Bullous pemphigoid 		0.010 GeneticVariation BEFREE A total of four single nucleotide polymorphisms (SNPs) in the mtDNA, namely, m.16263T>C, m.16051A>G, and m.16162A>G in the D-loop region of the mtDNA, and m.11914G>A in the mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene (<i>MT-ND4</i>), were found to be significantly associated with BP based on the meta-analysis of our NGS data and the Sanger sequencing data (<i>p</i> = 0.0017, <i>p</i> = 0.0129, <i>p</i> = 0.0076, and <i>p</i> = 0.0132, respectively, Peto's test). 31824475 2019
dbSNP: rs185968827
rs185968827
Entrez Id: 667;101930010
Gene Symbol: DST;DST-AS1
DST;DST-AS1
CUI: C0002395
Disease:
Alzheimer's Disease 		A 0.700 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
dbSNP: rs201045495
rs201045495
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3539003
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		A 0.700 CausalMutation CLINVAR Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
dbSNP: rs201045495
rs201045495
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
dbSNP: rs41267675
rs41267675
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72881017
rs72881017
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs950530102
rs950530102
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C0011265
Disease:
Presenile dementia 		0.010 GeneticVariation BEFREE Neither allelic nor genotypic BDNF Val66Met SNP was associated with dementia or with BP (associated or not with clinical manifestation of dementia). 30220011 2018
dbSNP: rs950530102
rs950530102
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C0497327
Disease:
Dementia 		0.010 GeneticVariation BEFREE Neither allelic nor genotypic BDNF Val66Met SNP was associated with dementia or with BP (associated or not with clinical manifestation of dementia). 30220011 2018