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: C0152421
Disease: Macrotia
Macrotia 		188 18 22 8.6E-02 1 3.6E-02
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 8 8.6E-02 0 0
CUI: C0239399
Disease: Short extremities
Short extremities 		38 0 10 8.5E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 19 8.5E-02 0 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		39 0 10 8.5E-02 0 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage 		14 0 8 8.4E-02 0 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 12 8.3E-02 2 1.0E-01
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		15 0 8 8.3E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 25 8.3E-02 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 9 8.2E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 38 8.1E-02 0 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		72 0 12 8.1E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 17 8.0E-02 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 20 7.8E-02 1 3.3E-02
CUI: C0151908
Disease: Dry skin
Dry skin 		159 12 18 7.8E-02 1 4.5E-02
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 9 7.6E-02 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 16 7.6E-02 0 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		25 0 8 7.5E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 9 7.5E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 18 7.4E-02 1 1.6E-02
CUI: C1856963
Disease: Fragile nails
Fragile nails 		27 1 8 7.4E-02 1 9.1E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 11 7.4E-02 1 3.7E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 19 7.4E-02 0 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		14 0 7 7.3E-02 0 0
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		59 0 10 7.2E-02 0 0