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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 148 0.20 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 149 0.20 4 6.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 214 0.19 2 1.2E-02
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 123 0.18 1 1.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 144 0.16 3 2.7E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 160 0.15 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 77 0.15 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 109 0.15 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 153 0.15 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 123 0.15 4 4.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 133 0.14 3 3.4E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 135 0.14 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 98 0.14 1 1.7E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 9 74 0.14 2 4.5E-02
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 75 0.14 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 101 0.14 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 12 75 0.14 1 2.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 88 0.13 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 89 0.13 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 122 0.13 1 1.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 122 0.13 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 100 0.13 1 1.5E-02
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 45 121 0.13 4 5.1E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 0 149 0.12 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 94 0.12 0 0