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: C0038379
Disease: Strabismus
Strabismus
716 0 1 1.2E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
539 0 1 1.5E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
427 0 1 1.9E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
385 0 1 2.0E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability
854 0 2 2.1E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
362 0 1 2.1E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
337 0 1 2.2E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 1 2.3E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
321 0 1 2.3E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
312 0 1 2.4E-03 0 0
CUI: C0042963
Disease: Vomiting
Vomiting
303 0 1 2.4E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence
645 0 2 2.7E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index
1014 0 3 2.7E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
261 0 1 2.7E-03 0 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
254 0 1 2.8E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
251 0 1 2.8E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
251 0 1 2.8E-03 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
237 0 1 2.9E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
227 0 1 3.0E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
226 0 1 3.0E-03 0 0
Delayed speech and language development
560 0 2 3.0E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 0 1 3.0E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 1 3.1E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
535 0 2 3.1E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
212 0 1 3.1E-03 0 0