Source: ALL
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: C0154038
Disease: Benign neoplasm of thyroid gland
Benign neoplasm of thyroid gland 		0 4 0 0 1 0.14
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		507 0 1 1.6E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.7E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.7E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 1.8E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 1.8E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 1.8E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 1.8E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 1.8E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 1.9E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 1.9E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 1.9E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 1.9E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.0E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.0E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.0E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 2.2E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.3E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.3E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 1 2.4E-03 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 1 2.5E-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: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.6E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 2.6E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.7E-03 0 0