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: C0349588
Disease: Short stature
Short stature
1122 0 1 8.5E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1039 0 1 9.2E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1005 0 1 9.5E-04 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
803 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 1 1.2E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
682 0 1 1.4E-03 0 0
Sensorineural Hearing Loss (disorder)
622 0 1 1.5E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
609 0 1 1.5E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
1259 0 2 1.5E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 1 1.6E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
508 0 1 1.8E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 0 1 1.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
459 0 1 2.0E-03 0 0
CUI: C0028754
Disease: Obesity
Obesity
397 0 1 2.2E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay
381 0 1 2.3E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
363 0 1 2.4E-03 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
773 0 2 2.4E-03 0 0
CUI: C0040822
Disease: Tremor
Tremor
345 0 1 2.5E-03 0 0
Attention deficit hyperactivity disorder
344 0 1 2.5E-03 0 0
CUI: C0003467
Disease: Anxiety
Anxiety
336 0 1 2.6E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
334 0 1 2.6E-03 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
326 0 1 2.7E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
319 0 1 2.7E-03 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
318 0 1 2.7E-03 0 0