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: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 20 7.2E-02 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 10 10 7.2E-02 2 2.0E-02
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		151 0 17 7.2E-02 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 19 7.2E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 22 7.1E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 28 7.1E-02 1 8.8E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 25 6.9E-02 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 17 6.9E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 18 6.9E-02 0 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		53 0 10 6.8E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 44 6.8E-02 4 2.4E-02
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		39 0 9 6.8E-02 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 2 9 6.8E-02 1 1.1E-02
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		9 0 7 6.7E-02 0 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		42 0 9 6.6E-02 0 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		27 0 8 6.6E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 24 6.5E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 27 6.5E-02 0 0
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		94 0 12 6.5E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 32 6.4E-02 1 7.6E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 28 6.4E-02 5 1.5E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 18 6.4E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 11 6.3E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 11 6.3E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 19 27 6.3E-02 1 9.0E-03