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: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.21 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.19 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.18 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 7 0.18 0 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		13 0 7 0.17 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 8 0.17 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 11 0.16 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 10 0.16 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 9 0.13 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 7 0.13 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 8 0.13 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		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 0.12 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 8 0.12 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 10 0.12 0 0
CUI: C0266210
Disease: Congenital anomaly of rectum
Congenital anomaly of rectum 		4 0 4 0.12 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 6 0.11 0 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		17 0 5 0.11 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 6 0.11 0 0
CUI: C0221182
Disease: Chordee
Chordee 		11 0 4 9.8E-02 0 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		23 0 5 9.6E-02 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 13 9.4E-02 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 11 9.2E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 9 9.1E-02 0 0