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: C0239676
Disease: High forehead
High forehead 		211 17 68 0.15 1 2.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 133 0.15 1 9.9E-03
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 62 0.14 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 98 0.14 1 1.7E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 67 0.14 1 2.5E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 114 0.14 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 55 0.14 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 91 0.14 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 73 0.14 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 88 0.14 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 54 0.14 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 88 0.13 1 1.9E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 63 0.13 1 2.7E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 0 71 0.13 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 82 0.13 2 1.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 147 0.13 3 5.0E-03
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 75 0.13 1 1.6E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 57 0.13 1 3.0E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 63 0.13 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 48 0.13 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 55 0.12 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 56 0.12 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 0 53 0.12 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 112 0.12 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 80 0.12 2 3.1E-03