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: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 8 0.20 0 0
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.18 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 9 0.18 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.17 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.17 0 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		13 0 7 0.16 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 13 0.15 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 10 0.14 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 9 0.14 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 8 0.12 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 19 0.12 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 7 0.12 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 8 0.12 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 7 0.12 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 7 0.11 0 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		22 0 6 0.11 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 8 0.11 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 11 0.11 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 15 0.10 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 7 9.9E-02 0 0
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		18 0 5 9.8E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 10 9.3E-02 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 6 9.2E-02 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 18 9.0E-02 0 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 0 11 8.9E-02 0 0