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 0.25 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.23 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.22 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 7 0.22 0 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		13 0 7 0.21 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 7 0.16 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 9 0.16 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 7 0.14 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 7 0.14 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 7 0.13 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 7 0.12 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 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 7 0.11 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 9 0.11 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 7 0.11 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 7 0.11 0 0
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		16 0 4 1.0E-01 0 0
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		52 7 7 9.6E-02 1 9.1E-02
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		55 0 7 9.2E-02 0 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		55 0 7 9.2E-02 0 0
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		9 0 3 8.8E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 8 8.5E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 4 8.5E-02 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 9 8.5E-02 0 0
CUI: C0239479
Disease: Round face
Round face 		88 0 9 8.4E-02 0 0