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: C0585475
Disease: Pilomatrix carcinoma of skin
Pilomatrix carcinoma of skin 		0 3 0 0 1 2.9E-02
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		0 4 0 0 1 2.9E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.1E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 2.1E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.3E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 2.3E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.4E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 2.4E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 2.4E-03 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 0 1 2.5E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 2.5E-03 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 1 2.5E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 2.6E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.6E-03 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 1 2.6E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 1 2.6E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 2.6E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 1 2.6E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 2.7E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 2.7E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.7E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 2.8E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 2.8E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 2.8E-03 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 1 2.8E-03 0 0