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: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis 		9 0 8 0.33 0 0
CUI: C4021654
Disease: Precocious atherosclerosis
Precocious atherosclerosis 		9 0 7 0.28 0 0
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum 		15 22 8 0.27 9 2.7E-02
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		6 0 6 0.26 0 0
CUI: C4022811
Disease: Abnormality of nervous system physiology
Abnormality of nervous system physiology 		6 0 6 0.26 0 0
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology 		6 0 6 0.26 0 0
CUI: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis 		6 0 6 0.26 0 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis 		6 0 6 0.26 0 0
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm 		7 0 6 0.25 0 0
CUI: C1839653
Disease: Decreased cervical spine flexion due to contractures of posterior cervical muscles
Decreased cervical spine flexion due to contractures of posterior cervical muscles 		7 0 6 0.25 0 0
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		7 0 6 0.25 0 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		12 0 7 0.25 0 0
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		23 72 9 0.24 38 0.11
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		9 0 6 0.23 0 0
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		5 0 5 0.22 0 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		11 0 6 0.21 0 0
CUI: C0151691
Disease: Decreased HDL cholesterol concentration
Decreased HDL cholesterol concentration 		12 0 6 0.21 0 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 0 6 0.19 0 0
CUI: C0302314
Disease: Xanthoma
Xanthoma 		29 0 8 0.18 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 6 0.18 0 0
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		10 0 5 0.18 0 0
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		10 0 5 0.18 0 0
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		10 21 5 0.18 7 2.1E-02
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb 		25 0 7 0.17 0 0
CUI: C0027125
Disease: Myotonia
Myotonia 		19 0 6 0.17 0 0