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: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 45 4.4E-03 2 1.2E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 31 3.1E-02 2 3.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 26 1.4E-02 3 5.4E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 6 2.3E-02 3 7.3E-03
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 194 3 4.5E-02 1 5.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 37 4.3E-02 2 1.5E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 5 4.5E-02 3 2.6E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 7 2.2E-02 2 1.9E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 25 6.1E-02 2 2.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 30 4.1E-02 2 2.2E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 20 4.4E-02 2 2.2E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 8 2.6E-02 1 1.2E-02
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		122 78 2 1.2E-02 2 2.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 28 4.6E-02 1 1.3E-02
CUI: C0018681
Disease: Headache
Headache 		338 75 11 2.9E-02 2 2.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 17 3.2E-02 2 2.8E-02
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 8 2.4E-02 1 1.4E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		632 63 4 5.9E-03 2 3.1E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 3 3.0E-02 2 3.3E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 22 4.8E-02 2 3.4E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 27 5.0E-02 2 3.4E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 11 5.2E-02 2 3.6E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 8 3.4E-02 2 3.8E-02
CUI: C0233794
Disease: Memory impairment
Memory impairment 		763 48 9 1.1E-02 2 4.0E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 23 4.6E-02 1 2.5E-02