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: C0013421
Disease: Dystonia
Dystonia 		453 0 1 1.8E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 1.9E-03 0 0
CUI: C0037369
Disease: Smoking
Smoking 		391 0 1 2.0E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.3E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.5E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 2.7E-03 0 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		264 0 1 2.7E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 2.7E-03 0 0
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		249 0 1 2.8E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 2.9E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.9E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 3.0E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 3.1E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.1E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 3.1E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 3.1E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 3.1E-03 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 3.3E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 3.4E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 2 3.4E-03 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 1 3.4E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 3.4E-03 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 1 3.4E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 2 3.4E-03 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 1 3.4E-03 0 0