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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 270 0.18 3 4.4E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 225 0.18 10 1.6E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 210 0.18 6 1.0E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 211 0.18 7 1.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 211 0.18 3 4.6E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 218 0.18 4 6.4E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 200 0.17 4 6.6E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 219 0.17 28 3.8E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 240 0.16 7 7.7E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 189 0.16 8 1.3E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 207 0.16 4 6.0E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 192 0.16 3 5.0E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 185 0.16 6 9.9E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 210 0.16 4 6.4E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 182 0.15 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 189 0.15 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 196 0.15 1 1.7E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 181 0.15 4 6.0E-03
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 180 0.15 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 124 238 0.15 1 1.4E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 167 0.15 18 2.8E-02
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 162 0.14 4 6.8E-03
CUI: C0009806
Disease: Constipation
Constipation 		424 57 175 0.14 16 2.6E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 196 0.14 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 149 0.14 87 0.10