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 0 156 0.86 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 32 0.18 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 32 0.17 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 32 0.17 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 32 0.17 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 36 0.17 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 32 0.17 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 4 34 0.17 1 2.7E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 36 0.17 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 32 0.16 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 40 0.16 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 36 0.16 2 4.2E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 43 0.16 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 14 37 0.15 2 4.3E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 62 0.15 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 39 0.15 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 4 37 0.14 1 2.7E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 48 0.14 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 50 0.14 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 39 0.14 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 64 0.13 3 3.7E-02
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 39 0.12 0 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		151 0 35 0.12 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 40 0.12 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 63 0.12 3 2.9E-02