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: C0240953
Disease: Winged scapula
Winged scapula 		73 0 1 1.4E-02 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 1 4.5E-02 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 1 2.0E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 1 5.8E-03 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 1 1.8E-02 0 0
CUI: C3553331
Disease: Subcortical heterotopia
Subcortical heterotopia 		1 0 1 0.50 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 1 6.0E-03 0 0
CUI: C0037763
Disease: Spasm
Spasm 		172 0 1 5.8E-03 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 1 6.0E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 3.3E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 1 4.6E-04 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 5.2E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 4.5E-03 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 1 2.9E-02 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 1 6.7E-03 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 1 3.3E-02 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 1 9.1E-02 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 1 9.1E-02 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 5.9E-03 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 1 4.3E-02 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 1 3.2E-02 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 1 3.3E-02 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 6.5E-03 0 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		10 0 1 9.1E-02 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 8.8E-03 0 0