Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Delayed speech and language development
560 0 82 0.12 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
176 0 42 0.12 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
138 0 38 0.12 0 0
CUI: C0349588
Disease: Short stature
Short stature
1127 0 139 0.11 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
261 0 50 0.11 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
86 0 32 0.11 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
207 0 44 0.11 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 0 149 0.11 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 0 41 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 0 45 0.11 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
133 0 36 0.11 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
134 0 36 0.11 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
186 0 41 0.11 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 0 94 0.11 0 0
CUI: C1848207
Disease: Poor speech
Poor speech
208 0 43 0.11 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
305 0 52 0.11 0 0
CUI: C1835884
Disease: Triangular face
Triangular face
111 0 33 0.11 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
112 0 33 0.11 0 0
CUI: C0025995
Disease: Micromelia
Micromelia
104 0 32 0.11 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 0 57 0.11 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
295 0 50 0.11 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
181 0 39 0.11 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 0 61 0.10 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
225 0 42 0.10 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
67 0 27 0.10 0 0