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: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 49 0.15 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 49 0.14 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 39 0.14 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 79 0.14 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 81 0.14 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 33 0.14 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 32 0.14 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 50 0.14 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 32 0.14 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 32 0.14 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 78 0.14 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 35 0.14 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 62 0.14 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 52 0.13 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 32 0.13 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 55 0.13 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 38 0.13 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 36 0.13 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 119 0.12 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 44 0.12 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 135 0.12 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 102 0.12 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 78 0.12 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 53 0.12 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 70 0.12 0 0