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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 9.8E-04 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 1 1.1E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 1 1.3E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 1 1.5E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.5E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 1.8E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.9E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.0E-03 0 0
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		433 0 1 2.1E-03 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 1 2.1E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.1E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		399 0 1 2.2E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.3E-03 0 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 0 1 2.3E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.3E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 2.6E-03 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 1 2.7E-03 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 1 2.7E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 2.7E-03 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 1 2.8E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 1 2.9E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 3972 6 3.1E-03 1 2.5E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.1E-03 0 0