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: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 11 0.16 0 0
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.16 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 11 0.15 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.15 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.14 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 7 0.14 0 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		13 0 7 0.14 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 10 0.14 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 8 0.14 0 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		46 7 9 0.11 1 7.7E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 8 0.11 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 7 0.11 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 7 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 8 0.10 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 13 17 0.10 1 5.3E-02
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 7 0.10 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 11 0.10 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 15 9.8E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 11 9.7E-02 0 0
CUI: C0155552
Disease: Hearing Loss, Mixed Conductive-Sensorineural
Hearing Loss, Mixed Conductive-Sensorineural 		23 0 6 9.7E-02 0 0
CUI: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		12 0 5 9.6E-02 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 9 9.4E-02 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 12 9.2E-02 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 6 9.1E-02 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 19 9.0E-02 2 8.0E-02