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: C0151889
Disease: Hyperreflexia
Hyperreflexia
539 0 1 1.5E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 0 1 1.6E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
473 0 1 1.7E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
422 0 1 1.8E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 0 2 1.9E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 0 1 1.9E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
399 0 1 1.9E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay
384 0 1 2.0E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 2 2.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 2 2.2E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
312 0 1 2.3E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
306 0 1 2.3E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
305 0 1 2.3E-03 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
299 0 1 2.4E-03 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot
285 0 1 2.4E-03 0 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
272 0 1 2.5E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
271 0 1 2.5E-03 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
253 0 1 2.6E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
251 0 1 2.7E-03 0 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
239 0 1 2.7E-03 0 0
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
234 0 1 2.8E-03 0 0
Red cell distribution width determination
593 0 2 2.8E-03 0 0
RDW - Red blood cell distribution width result
593 0 2 2.8E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
228 0 1 2.8E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
226 0 1 2.8E-03 0 0