DST, dystonin, 667

N. diseases: 147; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.710 Biomarker disease BEFREE Dystonin-a2 plays a major role in the HSAN-VI phenotype. 28468842 2017
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.710 CausalMutation disease CLINVAR Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.710 Biomarker disease GENOMICS_ENGLAND To obtain a better molecular understanding of disease pathogenesis in HSAN-VI patients and the dt disorder, we generated transgenic mice expressing a myc-tagged dystonin-a2 protein under the regulation of the neuronal prion protein promoter on the dt(Tg4/Tg4) background, which is devoid of endogenous dystonin-a1 and -a2, but does express dystonin-a3. 24381311 2014
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.710 GermlineCausalMutation disease ORPHANET Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. 22522446 2012
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.710 CausalMutation disease 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
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.710 Biomarker disease CTD_human
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.710 GeneticVariation disease CLINVAR
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 CausalMutation disease CLINVAR Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 Biomarker disease GENOMICS_ENGLAND Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 GermlineCausalMutation disease ORPHANET Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. 22113475 2012
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 Biomarker disease GENOMICS_ENGLAND 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
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 CausalMutation disease 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
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.320 GeneticVariation disease BEFREE The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. 28767192 2017
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.320 Biomarker disease GENOMICS_ENGLAND Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
CUI: C1832926
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 		0.320 GeneticVariation disease BEFREE Our study reveals propagation of a mutant ancestral allele in DST-e throughout Kuwait, indicating that this subtype of EBS may be more common in Kuwait, and perhaps other Middle Eastern countries, than is currently appreciated. 25059916 2015
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.320 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1832926
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 		0.320 Biomarker disease BEFREE 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
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.320 GeneticVariation disease BEFREE This study demonstrates that mutations in the BPAG1 or BPAG2 genes are not the primary genetic defect in this family with EBS. 1686013 1991
CUI: C1832926
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 		0.320 Biomarker disease CTD_human
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.130 Biomarker disease BEFREE Dystonin/BPAG1 modulates diabetes and Alzheimer's disease cross-talk: a meta-analysis. 30963337 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.130 Biomarker disease BEFREE BP230 values were higher and more often elevated in patients with AD than controls, but not significantly. 27650606 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.130 AlteredExpression disease BEFREE One hundred and twenty-two spouse CGs of persons with Alzheimer's disease and 117 demographically matched NCG spouses were compared on Trails B and DST at baseline (T1), 1 year later (T2), and 2 years later (T3) and on SCPs at T1. 26903233 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.130 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune blistering disease associated with autoantibodies against BP180 and/or BP230 antigens. 31603994 2020