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: C4021813
Disease: Oral cleft
Oral cleft 		85 0 29 0.14 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 47 0.14 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 75 0.14 1 2.1E-02
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 23 0.14 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 24 0.13 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 44 0.13 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 23 0.13 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 28 0.13 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 5 31 0.13 1 6.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 74 0.13 2 2.7E-02
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 28 0.13 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 27 0.13 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 21 0.13 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 29 0.13 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 98 0.13 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 36 0.12 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 60 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 40 0.12 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 81 0.12 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 35 0.12 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 282 42 0.11 1 3.4E-03
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 27 0.11 0 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		20 0 17 0.11 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 17 0.11 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 25 0.11 0 0