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: C0025990
Disease: Micrognathism
Micrognathism
586 53 172 0.25 6 7.0E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 137 0.24 2 3.0E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
325 43 114 0.23 4 5.1E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
321 22 108 0.22 3 5.2E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
181 0 81 0.21 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
129 0 70 0.20 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
384 96 111 0.20 4 3.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
272 36 92 0.20 8 0.12
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
225 12 83 0.19 1 2.0E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
171 12 73 0.19 1 2.0E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 0 102 0.19 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 49 104 0.18 5 6.0E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 199 0.18 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 152 0.18 4 3.2E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
295 14 88 0.18 1 1.9E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 80 153 0.18 4 3.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 70 118 0.18 2 1.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 132 0.18 7 6.4E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
216 16 75 0.18 1 1.9E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 135 166 0.17 2 1.2E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head
154 26 64 0.17 4 6.6E-02
CUI: C0349588
Disease: Short stature
Short stature
1127 292 206 0.17 10 3.1E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 19 74 0.17 4 7.4E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum
282 16 82 0.17 4 7.8E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot
285 38 82 0.17 4 5.5E-02