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: C0206737
Disease: Nevus, Intradermal
Nevus, Intradermal 		0 1 0 0 1 1.3E-03
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		0 17 0 0 1 1.3E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.1E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.4E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.5E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.5E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.6E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 2.8E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.9E-03 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 3.1E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 3.1E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 3.1E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 3.1E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.2E-03 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 1 3.2E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 2 3.2E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 3.2E-03 0 0
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		223 0 1 3.2E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.3E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 3.3E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 3.3E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 3.3E-03 0 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		210 0 1 3.3E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 3.4E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 2 3.4E-03 0 0