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: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		23 0 2 8.7E-02 0 0
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		23 0 2 8.7E-02 0 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		23 0 2 8.7E-02 0 0
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb 		25 0 2 8.0E-02 0 0
CUI: C0337439
Disease: Iron measurement
Iron measurement 		12 0 1 7.7E-02 0 0
CUI: C0428578
Disease: Iron level result
Iron level result 		12 0 1 7.7E-02 0 0
CUI: C0267971
Disease: Storage disease
Storage disease 		28 0 2 7.1E-02 0 0
CUI: C0302314
Disease: Xanthoma
Xanthoma 		29 0 2 6.9E-02 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 0 2 6.5E-02 0 0
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		34 0 2 5.9E-02 0 0
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		37 0 2 5.4E-02 0 0
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta 		37 0 2 5.4E-02 0 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		40 0 2 5.0E-02 0 0
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		42 0 2 4.8E-02 0 0
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		20 0 1 4.8E-02 0 0
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		42 0 2 4.8E-02 0 0
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		44 0 2 4.5E-02 0 0
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		48 0 2 4.2E-02 0 0
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		48 0 2 4.2E-02 0 0
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias 		24 0 1 4.0E-02 0 0
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		51 0 2 3.9E-02 0 0
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		56 0 2 3.6E-02 0 0
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		27 0 1 3.6E-02 0 0
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		59 0 2 3.4E-02 0 0
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		62 0 2 3.2E-02 0 0