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: C0005890
Disease: Body Height
Body Height
1903 0 1 5.3E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1458 0 1 6.9E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures
1292 0 1 7.7E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
1259 0 1 7.9E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature
1122 0 1 8.9E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1039 0 1 9.6E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1005 0 1 1.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
954 0 1 1.0E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
855 0 1 1.2E-03 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 1.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 1 1.3E-03 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
773 0 1 1.3E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
734 0 1 1.4E-03 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
687 0 1 1.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
682 0 1 1.5E-03 0 0
Sensorineural Hearing Loss (disorder)
622 0 1 1.6E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
609 0 1 1.6E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
596 0 1 1.7E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 1 1.7E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
574 0 1 1.7E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
574 0 1 1.7E-03 0 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
565 0 1 1.8E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
558 0 1 1.8E-03 0 0
Delayed speech and language development
556 0 1 1.8E-03 0 0