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: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 9 0.17 0 0
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.16 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.16 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.15 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 7 0.15 0 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		13 0 7 0.14 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 9 0.13 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 7 0.12 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 7 0.12 0 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		56 0 11 0.12 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 8 0.12 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 7 0.12 0 0
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 0.11 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 0 7 0.11 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 8 0.11 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 8 0.11 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 7 0.11 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 6 0.11 0 0
CUI: C4021971
Disease: Peripheral arteriovenous fistula
Peripheral arteriovenous fistula 		8 0 5 0.11 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 7 0.11 0 0
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		19 0 6 0.11 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		9 0 5 0.11 0 0
CUI: C0332573
Disease: Macule
Macule 		31 0 7 0.10 0 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 5 0.10 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 5 1.0E-01 0 0