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: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 11 0.16 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 11 0.16 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 10 0.16 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 10 0.16 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 10 0.16 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 11 0.15 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 10 0.15 0 0
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 9 0.15 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 9 0.15 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 10 0.15 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 10 0.15 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 10 0.14 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 10 0.14 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 9 0.14 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 18 0.14 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 11 0.13 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 13 0.13 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 8 0.13 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 10 0.12 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 12 0.12 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 2 15 0.12 1 6.7E-02
CUI: C1879312
Disease: Agyria
Agyria 		20 0 8 0.11 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 21 19 0.11 1 2.9E-02
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 7 0.11 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 7 0.11 0 0