Source: INFERRED ×
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: C0339662
Disease: Afferent Pupillary Defect
Afferent Pupillary Defect 		1 0 1 1.00 0 0
CUI: C1861653
Disease: Mandibular enlargement
Mandibular enlargement 		1 1 1 1.00 1 0.25
CUI: C1861656
Disease: Retraction of lower eyelid
Retraction of lower eyelid 		1 0 1 1.00 0 0
CUI: C0235592
Disease: Cervical lymphadenopathy
Cervical lymphadenopathy 		3 1 1 0.33 1 0.25
CUI: C0423428
Disease: Scarred macula
Scarred macula 		4 0 1 0.25 0 0
CUI: C3281059
Disease: Broad jaw
Broad jaw 		6 0 1 0.17 0 0
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		10 0 1 1.0E-01 0 0
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		14 0 1 7.1E-02 0 0
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		20 0 1 5.0E-02 0 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		25 0 1 4.0E-02 0 0
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		36 0 1 2.8E-02 0 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		47 0 1 2.1E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		51 0 1 2.0E-02 0 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		56 0 1 1.8E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 1 1.8E-02 0 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		57 0 1 1.8E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 1 1.6E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 1 1.3E-02 0 0
CUI: C0239479
Disease: Round face
Round face 		88 0 1 1.1E-02 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 1 9.7E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 6.8E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		184 0 1 5.4E-03 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		200 0 1 5.0E-03 0 0
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		262 0 1 3.8E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 3.3E-03 0 0