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: C0038379
Disease: Strabismus
Strabismus 		716 89 27 3.6E-02 3 3.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 48 2.6E-02 3 5.4E-03
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 287 10 9.0E-03 2 6.8E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 13 3.8E-02 2 4.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 36 5.8E-02 2 2.4E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 6 1.6E-02 2 2.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 27 5.1E-02 2 2.9E-02
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 8 5 4.7E-02 2 0.14
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 51 4.5E-02 2 6.7E-03
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 13 5.8E-02 2 0.15
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 7 4.6E-02 2 0.12
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 10 7.9E-02 2 0.12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 14 2.3E-02 2 1.0E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 10 6.1E-02 2 0.12
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 3 3.4E-02 2 6.1E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 8 4.1E-02 2 0.11
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 19 8.2E-02 2 6.5E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 6 2.6E-02 2 1.6E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 11 5.0E-02 2 7.9E-03
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 11 6.9E-02 1 3.1E-02
CUI: C0004096
Disease: Asthma
Asthma 		2096 1536 9 4.2E-03 1 6.5E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 12 1.0E-02 1 2.5E-03
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		43 9 2 1.8E-02 1 6.2E-02
CUI: C0006325
Disease: Bruxism
Bruxism 		24 9 2 2.2E-02 1 6.2E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 8 1.6E-02 1 7.9E-03