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: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 14 9.3E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 30 9.1E-02 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 20 9.0E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 30 9.0E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 46 8.8E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 69 8.7E-02 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 13 8.6E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 36 8.5E-02 2 6.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 57 8.5E-02 3 3.4E-02
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 16 8.4E-02 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 22 8.4E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 43 8.3E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 22 8.2E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 23 8.2E-02 1 5.3E-02
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 17 8.1E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 39 8.1E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 32 8.0E-02 2 8.0E-02
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 16 8.0E-02 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 18 7.9E-02 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 0 16 7.9E-02 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 13 22 7.9E-02 1 4.0E-02
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 0 19 7.7E-02 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 19 7.7E-02 4 0.13
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 25 7.6E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 26 7.5E-02 0 0