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: C0239234
Disease: Low set ears
Low set ears 		489 64 226 0.19 7 1.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 222 0.18 10 1.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 210 0.18 7 1.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 208 0.18 6 1.0E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		470 42 212 0.17 4 6.5E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 200 0.17 4 6.6E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		551 261 219 0.17 7 8.4E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 218 0.17 28 3.8E-02
CUI: C0086543
Disease: Cataract
Cataract 		561 13 218 0.17 1 1.7E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 187 0.16 8 1.3E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 192 0.16 3 5.0E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 62 178 0.16 3 4.7E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		381 34 182 0.16 6 9.9E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 194 0.16 4 6.5E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		476 0 187 0.15 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 167 0.15 18 2.8E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		308 34 164 0.15 4 6.6E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		363 0 171 0.15 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		420 0 177 0.15 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		304 15 162 0.15 4 6.8E-03
CUI: C0009806
Disease: Constipation
Constipation 		289 49 160 0.15 15 2.4E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		536 19 191 0.15 1 1.7E-03
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 177 0.14 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		432 0 175 0.14 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		347 42 164 0.14 4 6.5E-03