Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		2 3 2 0.50 1 0.20
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		5 0 3 0.50 0 0
CUI: C3151265
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 		2 1 2 0.50 1 0.33
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		6 5 3 0.43 1 0.14
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease 		1 4 1 0.25 1 0.17
CUI: C0042782
Disease: Visceromegaly
Visceromegaly 		1 1 1 0.25 1 0.33
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1 29 1 0.25 1 3.2E-02
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		1 0 1 0.25 0 0
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		1 66 1 0.25 1 1.5E-02
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
KERATOSIS PALMOPLANTARIS STRIATA II 		1 0 1 0.25 0 0
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		1 54 1 0.25 1 1.8E-02
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		1 0 1 0.25 0 0
CUI: C2675627
Disease: Acholic stool
Acholic stool 		1 1 1 0.25 1 0.33
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS 		1 0 1 0.25 0 0
CUI: C4703660
Disease: Increased troponin I level in blood
Increased troponin I level in blood 		1 0 1 0.25 0 0
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		2 0 1 0.20 0 0
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		2 0 1 0.20 0 0
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		2 0 1 0.20 0 0
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		3 0 1 0.17 0 0
CUI: C0008031
Disease: Chest Pain
Chest Pain 		4 0 1 0.14 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 0 1 0.14 0 0
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		4 0 1 0.14 0 0
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		4 0 1 0.14 0 0
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		4 0 1 0.14 0 0
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		5 0 1 0.12 0 0