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: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 0 13 0.15 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 14 0.15 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 44 0.15 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 13 0.15 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 42 0.15 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 22 0.14 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 13 0.14 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 21 0.14 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 41 0.13 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 55 0.13 1 2.0E-02
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 27 0.13 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 27 0.13 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 48 0.13 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 25 0.13 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 58 0.13 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 52 0.12 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 13 0.12 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 52 0.12 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 39 0.12 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 42 0.12 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 14 15 0.12 1 6.7E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 40 0.11 0 0
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 9 0.11 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 9 0.11 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 42 0.10 0 0