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: C0730278
Disease: Severe nonproliferative diabetic retinopathy
Severe nonproliferative diabetic retinopathy 		0 3 0 0 1 5.1E-03
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 1.7E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 1.8E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 1.8E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 1.9E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 1.9E-03 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 1 1.9E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.9E-03 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 1 1.9E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 1.9E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 1 1.9E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 1 1.9E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 2.0E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 2.0E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 2.0E-03 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 1 2.0E-03 0 0
CUI: C0018498
Disease: Hair Color
Hair Color 		130 0 1 2.0E-03 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 1 2.0E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.0E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 2.0E-03 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 1 2.0E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 2.0E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 1 2.0E-03 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 1 2.1E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 2.1E-03 0 0