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: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 4 40 0.28 1 9.1E-02
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 36 0.28 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 42 0.27 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 32 0.26 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 32 0.25 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 32 0.25 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 32 0.25 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 32 0.23 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 61 0.22 1 3.1E-02
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 32 0.21 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 44 0.19 1 5.9E-02
CUI: C0013132
Disease: Drooling
Drooling 		95 0 35 0.19 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 33 0.19 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 37 0.18 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 41 0.18 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 63 0.18 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 57 0.17 2 2.4E-02
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 36 0.17 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 50 0.17 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 52 0.16 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 45 0.16 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 37 0.15 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 39 0.15 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 69 0.14 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 51 0.14 1 2.2E-02