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: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		disease 0.960 strong 0.971 22 54 1999 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		disease 0.900 strong 1.000 22 66 1999 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		disease 0.740 strong 1.000 0 5 2005 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		disease 0.720 strong 1.000 0 6 2002 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS 		disease 0.700 strong 1.000 0 8 2006 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
KERATOSIS PALMOPLANTARIS STRIATA II 		disease 0.600 strong 1.000 0 4 2011 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.500 None 0.966 2 13 2002 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype 0.400 None 1.000 0 1 2010 2010
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.200 None 1.000 17 32 1999 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.140 None 1.000 0 1 2006 2015
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.130 None 1.000 18 30 1999 2017
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		disease 0.120 None 1.000 0 1 2011 2014
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease 0.110 None 1.000 0 1 2011 2011
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		disease 0.100 None 1.000 8 1 2008 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0011071
Disease: Sudden death
Sudden death 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		disease 0.100 None 0 2
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		disease 0.100 None 0 2
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0008031
Disease: Chest Pain
Chest Pain 		phenotype 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		disease 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		disease 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.100 None 0 1