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: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 37 9.4E-02 2 1.5E-02
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 29 9.4E-02 1 1.7E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 34 9.3E-02 3 3.8E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 50 9.3E-02 2 2.4E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 51 9.3E-02 11 9.4E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 26 9.3E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 27 9.2E-02 2 3.2E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 43 9.2E-02 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 4 23 9.2E-02 2 3.6E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 24 9.1E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 55 9.1E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 23 9.1E-02 1 1.6E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 30 9.1E-02 2 3.1E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 30 9.0E-02 4 5.3E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 29 9.0E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 49 8.9E-02 3 3.3E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 23 8.9E-02 3 4.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 62 8.9E-02 2 1.6E-02
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 27 8.8E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 22 28 8.8E-02 2 2.7E-02
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 9 21 8.7E-02 1 1.6E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 45 8.7E-02 4 4.0E-02
CUI: C0266544
Disease: Microcornea
Microcornea 		129 10 24 8.7E-02 1 1.6E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 36 8.6E-02 1 1.4E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 15 22 8.6E-02 1 1.5E-02