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: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 52 0.13 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 73 0.13 1 2.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 75 0.13 2 4.5E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 74 0.13 2 2.0E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 67 0.13 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 42 0.13 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 154 0.13 2 6.5E-03
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 42 0.13 1 2.4E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 37 0.13 2 6.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 80 0.13 2 2.5E-02
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 38 0.13 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 40 0.13 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 58 0.13 1 2.6E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 44 0.13 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 104 0.13 1 9.5E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 111 0.13 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 111 0.13 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 86 0.13 3 1.5E-02
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 30 0.12 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 56 0.12 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 76 0.12 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 48 0.12 1 3.6E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 59 0.12 1 1.7E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 32 0.12 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 70 0.12 2 3.2E-03