Source: ALL
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: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0 568 0 0 1 1.8E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.0E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.2E-03 0 0
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		249 0 1 2.2E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 2.3E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 2.4E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 2.4E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 2.4E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 2.4E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 2.4E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 2.5E-03 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 1 2.6E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 2.6E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 2.6E-03 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 1 2.7E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 1 2.7E-03 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 1 2.7E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.7E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 2.8E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 2.8E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 2.8E-03 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 2.9E-03 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 1 2.9E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 2.9E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 2.9E-03 0 0