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: C0004106
Disease: Astigmatism
Astigmatism 		148 45 19 8.9E-02 4 5.7E-02
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 12 12 8.2E-02 2 5.1E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		78 23 12 7.9E-02 2 4.0E-02
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 12 17 7.7E-02 1 2.5E-02
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		84 0 12 7.6E-02 0 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 7 7.6E-02 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 0 10 7.5E-02 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 16 7.4E-02 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 29 14 6.6E-02 3 5.5E-02
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 8 6.6E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 48 6.4E-02 7 6.3E-02
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 13 6.3E-02 2 4.9E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 8 6.3E-02 4 4.8E-02
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		17 0 6 6.2E-02 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 10 6.2E-02 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 10 6.2E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 12 6.2E-02 6 9.7E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 18 6.1E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 10 6.1E-02 0 0
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		20 0 6 6.1E-02 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 11 6.0E-02 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 6 6.0E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 12 5.9E-02 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 13 5.9E-02 0 0
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		41 0 7 5.9E-02 0 0