DST, dystonin, 667

N. diseases: 147; N. variants: 19
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI ×
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