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: C3641106
Disease: Congenital Bleeding Disorder
Congenital Bleeding Disorder 		0 2 0 0 2 0.50
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 1 9.1E-04 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.5E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.5E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.7E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.7E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 1.9E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 1.9E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 4 2.0E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.0E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 2 2.2E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.2E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.5E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 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: C0521525
Disease: Short neck
Short neck 		288 0 1 2.7E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 2.7E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 2 2.7E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 2.8E-03 0 0
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		269 0 1 2.8E-03 0 0
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		265 0 1 2.8E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 2.8E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 2.9E-03 0 0