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
413 30 184 0.28 6 0.11
CUI: C0017601
Disease: Glaucoma
Glaucoma
286 94 154 0.27 1 8.2E-03
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
278 0 142 0.25 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 202 0.25 7 7.1E-02
CUI: C0086543
Disease: Cataract
Cataract
561 0 194 0.24 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
574 52 193 0.24 4 5.2E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 118 0.22 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
596 47 184 0.22 2 2.7E-02
Sensorineural Hearing Loss (disorder)
622 0 182 0.21 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 146 0.21 3 4.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
1259 0 285 0.20 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
496 66 155 0.20 6 6.7E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
508 0 157 0.20 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
682 85 186 0.20 3 2.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 151 0.20 5 5.7E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 49 134 0.20 2 2.6E-02
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
101 0 86 0.19 0 0
CUI: C0028754
Disease: Obesity
Obesity
397 0 134 0.19 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 25 98 0.19 2 3.8E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
220 0 104 0.19 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
87 0 82 0.19 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
266 0 110 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 191 0.19 0 0