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: C1865014
Disease: Long philtrum
Long philtrum 		282 16 101 0.26 5 0.14
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 8 61 0.22 1 3.1E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 47 0.20 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 50 0.19 4 0.13
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 55 0.19 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 100 0.19 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 68 0.18 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 65 0.18 1 2.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 114 0.17 4 1.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 88 0.17 3 4.2E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 43 0.17 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 31 46 0.17 2 3.7E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 91 0.17 2 3.2E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 67 0.17 3 3.0E-02
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 4 37 0.16 2 7.4E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 49 0.16 5 0.17
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 96 0.16 5 6.0E-02
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 34 0.16 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 46 0.16 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 45 0.16 1 2.6E-02
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 44 0.15 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 32 0.15 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 65 0.15 3 4.9E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 47 0.15 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 32 0.15 0 0