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: C0155567
Disease: Rheumatic aortic stenosis
Rheumatic aortic stenosis 		0 5 0 0 1 9.1E-02
CUI: C0333184
Disease: Calcific stenosis
Calcific stenosis 		0 4 0 0 1 1.0E-01
CUI: C0919718
Disease: Calcification of mitral valve
Calcification of mitral valve 		0 2 0 0 1 0.12
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 1 5.2E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 1 8.7E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1 9.6E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.1E-03 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 2 1.6E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.6E-03 0 0
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.7E-03 0 0
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		563 0 1 1.7E-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 1.8E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 1.9E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 2 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-03 0 0
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		486 1243 1 1.9E-03 1 8.0E-04
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.0E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.0E-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 2.1E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 2.2E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.2E-03 0 0
CUI: C0009806
Disease: Constipation
Constipation 		424 0 1 2.2E-03 0 0