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: C1854882
Disease: Absent speech
Absent speech 		232 0 1 2.0E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.0E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.0E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 2.1E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.2E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 2.2E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.3E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.3E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 2.3E-03 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 2.3E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 2.4E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 2.4E-03 0 0
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		138 0 1 2.4E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 2.5E-03 0 0
CUI: C0018498
Disease: Hair Color
Hair Color 		130 0 1 2.5E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 2.5E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 1 2.5E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 2.5E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 1 2.5E-03 0 0
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders 		121 0 1 2.5E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 2.5E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.5E-03 0 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		117 0 1 2.5E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 2.6E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 2.6E-03 0 0