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: C0242699
Disease: Bone Demineralization, Pathologic
Bone Demineralization, Pathologic 		0 3 0 0 1 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 1 9.5E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 1 1.1E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 1 1.1E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.3E-03 0 0
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		610 0 1 1.5E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.6E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.6E-03 0 0
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.6E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.7E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.7E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 1.8E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		433 0 1 2.1E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 2.1E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.1E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 5 2.3E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.3E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.3E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.4E-03 0 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 0 1 2.4E-03 0 0
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms 		322 0 1 2.8E-03 0 0