Source: CLINVAR

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 46 35 1989 2019
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		disease 0.900 None 1.000 0 1 1996 2018
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease 0.700 None 1.000 0 5 1999 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 0 1 2007 2018
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.400 None 1.000 16 6 1996 2019
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.190 None 1.000 0 1 2000 2017
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.150 None 1.000 0 3 2010 2015
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.130 None 1.000 9 4 1995 2013
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		disease 0.100 None 0 3
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		disease 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0030590
Disease: Paroxysmal supraventricular tachycardia
Paroxysmal supraventricular tachycardia 		disease 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C4023289
Disease: Transitional atrioventricular canal defect
Transitional atrioventricular canal defect 		disease 0.100 None 0 1