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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 239 0.23 255 0.27
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 227 0.14 15 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 213 0.15 3 4.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 199 0.14 14 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 173 0.16 5 6.5E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 162 0.40 213 0.28
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 162 0.13 12 1.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 150 0.17 7 1.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 148 0.12 2 3.2E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 146 0.12 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 133 0.17 6 8.8E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 130 0.12 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 127 0.13 2 2.7E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 127 0.17 3 3.7E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 113 0.16 3 4.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 109 0.14 1 1.5E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 105 0.10 5 7.3E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 104 0.13 2 3.0E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 0 104 0.16 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 102 0.13 2 3.0E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 97 0.13 2 3.0E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 97 0.15 6 9.2E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 95 0.12 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 95 9.3E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 95 9.3E-02 0 0