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: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 13 0.15 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 17 0.13 0 0
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		77 0 15 0.12 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 10 0.12 0 0
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.12 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 9 0.11 0 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		78 0 14 0.11 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.11 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.11 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 7 0.11 0 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		13 0 7 0.11 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 15 0.11 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 16 0.10 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 9 0.10 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 15 9.7E-02 0 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		42 0 9 9.7E-02 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 9 9.4E-02 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 7 9.3E-02 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 7 9.2E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 21 9.0E-02 1 2.7E-02
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 18 8.9E-02 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 7 8.5E-02 0 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		81 0 11 8.5E-02 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 7 8.4E-02 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 8 8.4E-02 0 0