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: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 1.5E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 1.5E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 1.6E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.6E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 1.6E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 1.6E-03 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 1 1.6E-03 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 1 1.7E-03 0 0
CUI: C0018498
Disease: Hair Color
Hair Color 		130 0 1 1.7E-03 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 1 1.7E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 1.7E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 1.7E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 1 1.7E-03 0 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 0 1 1.7E-03 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 1 1.7E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 1.7E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 1.7E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 1.7E-03 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 1 1.7E-03 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 1 1.7E-03 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 1 1.7E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 1.7E-03 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 1 1.7E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.8E-03 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 1 1.8E-03 0 0