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 77 243 0.19 8 3.4E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 238 0.19 5 2.4E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 218 0.18 4 2.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 224 0.18 13 5.9E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 341 0.18 2 8.4E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 201 0.17 5 6.4E-03
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 181 0.17 9 5.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 220 0.17 7 3.3E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 194 0.16 3 1.6E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 197 0.16 5 2.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 183 0.16 5 2.4E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 227 0.16 6 2.5E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 170 0.15 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 157 0.15 13 5.8E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 170 0.15 14 6.1E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 182 0.15 4 2.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 158 0.15 6 2.5E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 176 0.15 11 5.7E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 195 0.15 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 176 0.14 1 4.4E-03
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 170 0.14 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 183 0.14 7 4.0E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 150 0.14 12 4.7E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 157 0.14 9 4.3E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 162 0.13 4 2.1E-02