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: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 714 0.42 65 0.11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 498 0.36 9 1.2E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 552 0.33 41 7.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 498 0.29 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 386 0.27 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 306 0.26 25 7.6E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 281 0.25 7 3.2E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 332 0.25 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 303 0.23 17 7.3E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 282 0.23 5 2.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 320 0.22 7 2.9E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 274 0.22 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 312 0.22 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 312 0.22 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		609 17 280 0.22 2 1.1E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		381 34 237 0.22 5 2.6E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 254 0.22 5 2.5E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		476 0 249 0.21 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		363 0 227 0.21 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 298 0.21 5 1.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 353 0.21 16 3.6E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 325 0.20 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 238 0.20 15 7.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 328 0.20 2 1.1E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		319 21 206 0.20 4 2.2E-02