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: C0085666
Disease: Spider nevus
Spider nevus 		0 2 0 0 1 0.12
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 1.7E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.0E-03 0 0
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		269 0 1 2.3E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.5E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 2.5E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 2.7E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 2.7E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 2.8E-03 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 1 2.9E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 2.9E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 1 3.0E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 3.0E-03 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 1 3.0E-03 0 0
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		156 0 1 3.1E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 3.1E-03 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 3.2E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 3.2E-03 0 0
CUI: C0005938
Disease: Bone Density
Bone Density 		138 654 1 3.3E-03 1 1.5E-03
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 3.3E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 3.3E-03 0 0
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		131 0 1 3.3E-03 0 0
CUI: C0018498
Disease: Hair Color
Hair Color 		130 0 1 3.3E-03 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 1 3.4E-03 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 1 3.4E-03 0 0