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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 6.9E-03 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 1 5.8E-03 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 1 2.9E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 4.8E-03 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 1 1.4E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 4.4E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 1 1.8E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 3.5E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 4.7E-03 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 1 2.2E-02 0 0
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		79 0 1 1.3E-02 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 8.9E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 1 2.9E-02 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 1 2.5E-02 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 1 3.1E-02 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 1 2.9E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 1 4.9E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 1.2E-02 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 13 1 7.1E-03 1 7.7E-02