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: rs62636495
rs62636495
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		T 0.800 CausalMutation CLINVAR Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants. 22403400 2012
dbSNP: rs62636495
rs62636495
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
dbSNP: rs62636495
rs62636495
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 GeneticVariation UNIPROT Nebulin binding impedes mutant desmin filament assembly. 23615443 2013
dbSNP: rs62636495
rs62636495
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 GeneticVariation UNIPROT Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. 12766977 2003