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: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		20 11 11 0.52 2 6.1E-02
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		23 0 7 0.25 0 0
CUI: C3549252
Disease: response to statin
response to statin 		6 0 3 0.20 0 0
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum 		15 0 4 0.17 0 0
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		2 17 2 0.17 2 5.1E-02
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		10 0 3 0.16 0 0
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		10 0 3 0.16 0 0
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		10 21 3 0.16 1 2.3E-02
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		3 0 2 0.15 0 0
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV 		11 0 3 0.15 0 0
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		11 0 3 0.15 0 0
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		42 0 7 0.15 0 0
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		20 0 4 0.14 0 0
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		4 0 2 0.14 0 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		12 0 3 0.14 0 0
CUI: C0302314
Disease: Xanthoma
Xanthoma 		29 0 5 0.14 0 0
CUI: C2239120
Disease: eyelids (symptom)
eyelids (symptom) 		6 0 2 0.12 0 0
CUI: C4022811
Disease: Abnormality of nervous system physiology
Abnormality of nervous system physiology 		6 0 2 0.12 0 0
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology 		6 0 2 0.12 0 0
CUI: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis 		6 0 2 0.12 0 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis 		6 0 2 0.12 0 0
CUI: C0342879
Disease: Primary hypercholesterolemia
Primary hypercholesterolemia 		7 0 2 0.12 0 0
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		7 0 2 0.12 0 0
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia 		17 0 3 0.12 0 0
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		28 0 4 0.11 0 0