DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913003
rs121913003
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
dbSNP: rs121913003
rs121913003
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 GeneticVariation UNIPROT Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. 16865695 2006
dbSNP: rs121913003
rs121913003
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		T 0.800 CausalMutation CLINVAR Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. 23425003 2013
dbSNP: rs121913003
rs121913003
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624 2017