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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.5E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 1.9E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.1E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.3E-03 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 1 2.4E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.4E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 2.7E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.9E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 2.9E-03 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 1 3.0E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 3.1E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.1E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 3.2E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 1 3.2E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 3.2E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 3.2E-03 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 1 3.2E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 3.2E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 3.2E-03 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 1 3.4E-03 0 0
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		188 0 1 3.5E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 2 3.5E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 3.5E-03 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 1 3.5E-03 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 1 3.6E-03 0 0