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: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 43 1 4.8E-02 1 1.8E-02
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 1 1.8E-02 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 1 6.1E-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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 4.6E-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 6.8E-03 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 6.6E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 5.7E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 5.0E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 7.8E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 1 1.8E-03 0 0
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 0 1 3.3E-03 0 0
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 1 7.1E-02 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 1 7.1E-02 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 0 1 3.6E-03 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 1 1.9E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 1 5.3E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 3.0E-03 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 1 7.8E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-04 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 1 4.5E-02 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.7E-03 0 0