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: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 24 0.11 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 15 0.11 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 21 0.10 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 52 9.7E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 20 9.7E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 29 9.5E-02 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 11 9.5E-02 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 10 9.4E-02 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 13 9.4E-02 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 18 9.4E-02 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 0 13 9.4E-02 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 12 9.2E-02 0 0
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 9 9.2E-02 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 9 9.2E-02 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 11 9.2E-02 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 11 9.1E-02 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 23 9.1E-02 1 7.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 58 8.9E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 18 8.9E-02 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 9 8.8E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 19 8.7E-02 2 0.11
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 18 8.7E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 54 8.6E-02 1 1.7E-02
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 15 8.5E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 10 8.3E-02 0 0