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 35 159 0.19 6 5.7E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias
266 0 136 0.19 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
942 164 243 0.19 8 3.4E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
232 25 129 0.19 3 3.0E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
216 0 126 0.19 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
200 10 123 0.18 3 3.6E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
216 0 123 0.18 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
426 32 154 0.18 1 9.3E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
297 39 134 0.18 2 1.8E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 39 132 0.18 7 6.4E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
208 19 120 0.18 1 1.1E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum
282 16 131 0.18 2 2.2E-02
CUI: C0036572
Disease: Seizures
Seizures
1292 417 281 0.18 11 2.3E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
228 0 121 0.17 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
297 24 131 0.17 3 3.1E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 19 120 0.17 3 3.2E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
407 0 146 0.17 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
335 611 133 0.17 6 8.8E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
304 0 128 0.17 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
305 22 128 0.17 3 3.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
259 35 121 0.17 2 1.8E-02
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
208 22 113 0.16 1 1.0E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
295 14 125 0.16 1 1.1E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening
189 12 110 0.16 2 2.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot
282 38 123 0.16 2 1.8E-02