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: C0687120
Disease: Nephronophthisis
Nephronophthisis 		96 0 16 0.16 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 15 6.1E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 0 13 5.6E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 13 5.8E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 13 5.9E-02 0 0
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		666 0 13 1.9E-02 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 12 0.17 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 12 9.5E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 12 1.4E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 12 1.1E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 12 6.5E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 12 1.2E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 11 1.3E-02 0 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		1180 0 11 9.3E-03 0 0
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		299 0 11 3.6E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 11 0.13 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 10 1.8E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 10 0.17 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 10 0.31 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 9 2.2E-02 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 0 9 1.4E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 9 4.1E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 9 4.4E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 8 9.5E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 8 1.0E-02 0 0