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
1825 553 751 0.37 65 1.0E-01
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 503 0.35 9 1.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 27 424 0.27 1 5.3E-03
Delayed speech and language development
560 192 307 0.25 25 7.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2165 159 629 0.25 4 1.3E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
473 62 287 0.25 7 3.2E-02
CUI: C0036572
Disease: Seizures
Seizures
2152 553 613 0.25 42 6.2E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 346 0.24 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 308 0.23 17 7.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 283 0.22 5 2.3E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 95 323 0.22 7 2.8E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 313 0.22 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 313 0.22 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 278 0.22 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 323 0.22 3 1.3E-02
CUI: C1854301
Disease: Motor delay
Motor delay
384 34 237 0.22 5 2.6E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
477 0 250 0.21 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
393 0 234 0.21 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 48 265 0.21 5 2.4E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 74 237 0.21 7 3.0E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 135 308 0.21 5 1.7E-02
CUI: C0349588
Disease: Short stature
Short stature
1127 292 353 0.20 16 3.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
385 49 222 0.20 9 4.4E-02
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 239 0.20 15 7.0E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 325 0.20 0 0