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: C0028643
Disease: Numbness
Numbness 		0 2 0 0 1 4.3E-02
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		0 2 0 0 1 4.3E-02
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		0 16 0 0 1 2.7E-02
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0 14 0 0 1 2.9E-02
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal 		0 3 0 0 1 4.2E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.6E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.0E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 4 2.0E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.0E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.1E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.2E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.2E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 2 2.4E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 2 2.4E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.5E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.9E-03 0 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		272 0 1 3.0E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.0E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 3.0E-03 0 0
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		265 457 1 3.0E-03 1 2.1E-03
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 3.0E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 3.2E-03 0 0
CUI: C0489786
Disease: Height
Height 		249 0 1 3.2E-03 0 0