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: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		669 77 75 7.5E-02 7 5.5E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 179 7.5E-02 2 9.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 95 7.4E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 69 7.4E-02 0 0
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		776 0 81 7.4E-02 0 0
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		939 584 92 7.3E-02 4 6.3E-03
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		267 0 46 7.3E-02 0 0
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		766 80 80 7.3E-02 7 5.3E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 69 7.3E-02 0 0
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		51 45 31 7.3E-02 4 4.0E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 0 87 7.3E-02 0 0
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		246 45 44 7.2E-02 6 6.2E-02
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		756 103 77 7.1E-02 4 2.5E-02
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		233 90 42 7.0E-02 1 6.8E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 82 7.0E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 44 7.0E-02 0 0
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		586 90 65 7.0E-02 2 1.4E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 109 7.0E-02 4 2.4E-02
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		647 0 68 6.9E-02 0 0
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		649 224 68 6.9E-02 1 3.6E-03
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		1800 680 142 6.9E-02 5 6.8E-03
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 40 6.9E-02 0 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		154 23 36 6.9E-02 1 1.3E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		1760 165 139 6.9E-02 3 1.4E-02
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		359 0 49 6.8E-02 0 0