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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 57 0.11 1 1.7E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 61 0.11 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 54 0.11 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 128 0.11 4 3.1E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 122 0.11 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 122 0.11 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 61 0.11 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 10 50 0.11 2 4.3E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 62 0.11 0 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 52 0.11 3 5.5E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 126 0.11 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 56 0.11 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 50 0.11 1 1.9E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 59 0.11 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 56 0.11 4 6.6E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 82 0.11 3 4.4E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 115 0.11 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 10 52 0.10 2 4.3E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 9 60 0.10 1 2.1E-02
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 70 0.10 1 1.9E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 57 0.10 1 1.4E-02
CUI: C0027092
Disease: Myopia
Myopia 		490 167 86 0.10 2 9.8E-03
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 51 0.10 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 78 0.10 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 4 45 0.10 1 2.4E-02