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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 67 8.6E-02 0 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		239 0 51 8.6E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 130 8.5E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 119 8.4E-02 0 0
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		62 0 36 8.3E-02 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 76 8.3E-02 2 1.6E-02
CUI: C0302142
Disease: Deformity
Deformity 		350 26 58 8.3E-02 4 5.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 64 8.3E-02 0 0
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		403 67 62 8.3E-02 4 3.3E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 50 8.2E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 52 8.2E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 509 69 8.1E-02 1 1.8E-03
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		559 0 72 8.1E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 47 8.0E-02 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 49 8.0E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 83 8.0E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 294 98 7.9E-02 4 1.1E-02
CUI: C0220810
Disease: Congenital defects
Congenital defects 		126 6 39 7.9E-02 4 6.7E-02
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 41 7.8E-02 0 0
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		424 28 60 7.8E-02 1 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 160 7.7E-02 2 3.3E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 52 7.7E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 59 7.6E-02 0 0
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 276 105 7.6E-02 4 1.2E-02
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		234 0 45 7.6E-02 0 0