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: C0036572
Disease: Seizures
Seizures 		2152 0 1 4.6E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 1 1.1E-03 0 0
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 0 1 1.3E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 1 1.4E-03 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 0 1 1.6E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 1 1.8E-03 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 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: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 1 2.1E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.7E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 3.0E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 3.2E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 3.3E-03 0 0
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 0 1 3.3E-03 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 0 1 3.6E-03 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 4.2E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 4.4E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 4.6E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 5.0E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 5.0E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 5.7E-03 0 0