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: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		13 0 1 7.7E-02 0 0
CUI: C0220769
Disease: FG syndrome
FG syndrome 		19 0 1 5.3E-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: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 1 2.9E-02 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: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 1 2.2E-02 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 1 1.8E-02 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 1 1.6E-02 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 1 1.4E-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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 1.2E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.1E-02 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 8.9E-03 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 1 8.3E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 8.0E-03 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 1 7.2E-03 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 13 1 7.1E-03 1 7.7E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 6.9E-03 0 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		151 0 1 6.6E-03 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 1 6.4E-03 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 1 5.8E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 5.5E-03 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 1 5.5E-03 0 0