Source: ALL
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: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		19 32 6 0.17 13 3.9E-02
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia 		19 0 6 0.17 0 0
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		20 10 6 0.16 1 3.1E-03
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		20 0 6 0.16 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 6 0.16 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 6 0.15 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		23 0 6 0.15 0 0
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		18 0 5 0.14 0 0
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		11 0 4 0.13 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 6 0.13 0 0
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta 		37 0 7 0.13 0 0
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		29 0 6 0.13 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 6 0.13 0 0
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis 		13 23 4 0.12 11 3.3E-02
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 0 6 0.12 0 0
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma 		4 0 3 0.12 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 6 0.12 0 0
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		42 34 7 0.12 9 2.6E-02
CUI: C4021729
Disease: Increased VLDL cholesterol concentration
Increased VLDL cholesterol concentration 		5 0 3 0.12 0 0
CUI: C4551514
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytic Lymphohistiocytosis, Familial, 1 		5 0 3 0.12 0 0
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias 		24 0 5 0.12 0 0
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		37 0 6 0.11 0 0
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		27 0 5 0.11 0 0
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis 		7 0 3 0.11 0 0
CUI: C1706412
Disease: Lipidemias
Lipidemias 		18 0 4 0.11 0 0