Source: INFERRED ×
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: C1865014
Disease: Long philtrum
Long philtrum 		282 16 69 0.13 1 1.6E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 104 0.13 2 3.0E-03
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 162 0.13 12 1.3E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		351 49 76 0.12 2 3.0E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 60 0.12 2 3.2E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 62 0.12 5 7.4E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		223 93 61 0.12 2 2.8E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 130 0.12 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		426 32 83 0.12 1 1.6E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 146 0.12 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 60 0.12 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 148 0.12 2 3.2E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 66 0.12 1 1.5E-03
CUI: C0024433
Disease: Macrostomia
Macrostomia 		144 0 51 0.12 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 95 0.12 0 0
CUI: C0027092
Disease: Myopia
Myopia 		325 104 70 0.12 1 1.4E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 81 0.12 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		282 38 64 0.12 1 1.5E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 82 0.12 2 3.0E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		297 39 65 0.11 1 1.5E-03
CUI: C0239676
Disease: High forehead
High forehead 		211 17 56 0.11 2 3.2E-03
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		407 0 76 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 57 0.11 2 3.2E-03
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 22 52 0.11 1 1.6E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		176 18 52 0.11 1 1.6E-03