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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 2.4E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 2.4E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 2.5E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 2.5E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.6E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 2.6E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 2.7E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 2.7E-03 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 1 2.8E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 2.8E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 2.8E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.9E-03 0 0
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		157 0 1 3.0E-03 0 0
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		156 0 1 3.0E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 3.1E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 3.1E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 3.1E-03 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 1 3.2E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 3.2E-03 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 1 3.2E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 3.2E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 3.2E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 3.2E-03 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 1 3.2E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 3.3E-03 0 0