Source: INFERRED ×
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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		351 49 211 0.20 9 4.4E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 34 231 0.19 5 2.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 243 0.19 8 3.4E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 62 202 0.19 7 3.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 224 0.18 13 6.0E-02
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 		574 52 219 0.17 7 3.3E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 220 0.17 6 2.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 192 0.17 3 1.6E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 183 0.16 5 2.4E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 173 0.16 5 6.5E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		335 61 172 0.16 5 2.3E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		308 0 168 0.16 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 169 0.15 14 6.1E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 156 0.15 13 5.8E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		426 32 181 0.15 4 2.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 76 151 0.15 6 2.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 175 0.15 11 5.7E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		407 0 170 0.14 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		536 19 182 0.14 7 4.0E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		269 106 148 0.14 12 4.7E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		281 0 146 0.14 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 162 0.13 4 2.1E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		223 93 137 0.13 16 6.6E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		551 261 174 0.13 4 9.5E-03