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: 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: rs950530102
rs950530102
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C0030805
Disease:
Bullous pemphigoid
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