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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 208 0.33 1 1.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 179 0.27 10 0.16
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 132 0.26 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 134 0.25 8 0.16
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 115 0.23 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 165 0.23 10 0.11
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 127 0.22 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 196 0.21 5 4.2E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 118 0.21 1 2.0E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 197 0.20 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 197 0.20 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 3 82 0.20 1 2.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 203 0.20 2 1.6E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 102 0.19 2 3.8E-02
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 82 0.19 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 132 0.19 4 6.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 159 0.19 6 5.7E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 155 0.19 1 1.2E-02
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 94 0.19 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 88 0.18 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 152 0.18 4 4.8E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 92 0.17 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 102 0.17 1 1.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 200 0.17 4 6.6E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 137 0.17 0 0