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: C0036572
Disease: Seizures
Seizures 		2152 553 38 1.7E-02 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 39 2.1E-02 2 3.6E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 4 1.5E-02 2 4.9E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 28 2.4E-02 1 2.5E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 6 7.6E-03 1 2.9E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 12 2.2E-02 1 5.9E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 23 2.3E-02 1 6.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 6 2.7E-02 1 8.1E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 21 2.2E-02 1 8.1E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 4 3.3E-02 1 8.5E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 26 2.0E-02 1 8.8E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 14 2.7E-02 1 9.3E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 8 1.4E-02 1 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 7 1.1E-02 1 1.3E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 13 3.6E-02 1 1.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 2 1.9E-02 1 1.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 11 1.7E-02 1 1.8E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 7 1.6E-02 1 2.0E-02
CUI: C0233794
Disease: Memory impairment
Memory impairment 		763 48 16 2.0E-02 1 2.0E-02
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		182 46 6 2.5E-02 1 2.1E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 45 4 2.0E-02 1 2.1E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 6 3.4E-02 1 2.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 5 1.5E-02 1 2.5E-02
CUI: C0086649
Disease: MPS III C
MPS III C 		6 38 1 1.5E-02 1 2.5E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 3.4E-02 1 2.6E-02