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: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 3.3E-03 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 1 3.3E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 3.3E-03 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 1 3.3E-03 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 1 3.3E-03 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 3.3E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 2 3.3E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 3.3E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 0 1 3.4E-03 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 1 3.4E-03 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 1 3.4E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 3.4E-03 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 1 3.4E-03 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 0 1 3.5E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 4 3.5E-03 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 1 3.5E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 2 3.5E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 3.5E-03 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 3.5E-03 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 1 3.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 3 3.6E-03 0 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 1 3.6E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 3.6E-03 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 1 3.6E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 3.6E-03 0 0