Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		disease 1.000 definitive 1.000 1 0 1989 2019
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		disease 0.700 None 1.000 1 0 2007 2018
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease 0.330 None 1.000 1 0 1999 2003
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C3148763
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 		disease 0.310 None 1.000 1 0 2012 2014