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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		1180 0 1 8.5E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 2 9.3E-04 0 0
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 0 1 9.3E-04 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 2 1.1E-03 0 0
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		852 0 1 1.2E-03 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 0 1 1.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C0497327
Disease: Dementia
Dementia 		816 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.3E-03 0 0
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		776 0 1 1.3E-03 0 0
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		773 0 1 1.3E-03 0 0
CUI: C0015672
Disease: Fatigue
Fatigue 		760 0 1 1.3E-03 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		714 0 1 1.4E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.5E-03 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 0 1 1.6E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 1 1.8E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 1 1.9E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 2.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 2.1E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.1E-03 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 1 2.1E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.3E-03 0 0