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: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 35 208 0.33 1 1.6E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 186 0.28 6 0.11
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
237 0 139 0.26 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
291 0 145 0.25 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 202 0.25 7 7.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 194 0.24 4 5.1E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 118 0.22 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 146 0.21 3 4.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 70 155 0.20 6 6.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 151 0.20 5 5.7E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 80 189 0.20 2 1.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 49 134 0.20 2 2.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 187 0.20 3 2.6E-02
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
101 0 86 0.19 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 25 98 0.19 2 3.8E-02
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
87 0 82 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 191 0.19 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 191 0.19 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 0 157 0.19 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
282 16 111 0.18 4 9.8E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 223 0.18 0 0
Sensorineural Hearing Loss (disorder)
783 0 186 0.18 0 0
CUI: C0086543
Disease: Cataract
Cataract
878 0 199 0.18 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 95 192 0.18 2 1.6E-02
CUI: C0521525
Disease: Short neck
Short neck
288 29 109 0.18 2 3.6E-02