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: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 49 0.19 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 29 0.15 0 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		65 0 27 0.13 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 23 0.12 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 22 0.12 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 22 0.12 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 25 0.12 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 22 0.12 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 22 0.12 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 33 0.12 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 28 0.12 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 29 0.11 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 30 0.11 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 23 0.11 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 37 0.11 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 28 0.11 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 30 0.10 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 24 0.10 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 38 9.9E-02 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 22 9.9E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 40 9.6E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 34 9.6E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 33 9.5E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 47 9.1E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 36 9.1E-02 0 0