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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 33 7.4E-02 5 9.4E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 33 6.9E-02 4 9.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 44 2.0E-02 3 5.4E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 35 4.6E-02 3 3.2E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 19 6.6E-02 3 0.12
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 18 0.13 3 0.27
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 11 4.7E-02 3 1.2E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 7 3.5E-02 2 4.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 44 7.0E-02 2 2.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 32 3.1E-02 2 3.4E-03
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 2 8.3E-03 2 3.4E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 16 6.3E-02 2 7.4E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 16 5.7E-02 2 8.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 30 5.4E-02 2 2.6E-02
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		10 80 1 1.1E-02 2 2.3E-02
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 8 4 2.2E-02 2 0.13
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 11 5.9E-02 2 6.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 55 3.0E-02 2 3.6E-03
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 6 6 4.8E-02 2 0.15
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		23 3 5 4.9E-02 2 0.20
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 45 4.5E-02 2 1.2E-02
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		10 3 2 2.2E-02 2 0.20
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 11 4.6E-02 2 1.6E-02
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 10 2 2.0E-02 2 0.12
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 1 9.6E-03 1 3.1E-02