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: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 23 0.31 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 23 0.30 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 23 0.27 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 8 39 0.25 1 1.0E-01
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 23 0.20 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 15 0.16 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 15 0.14 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 25 0.13 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 10 0.13 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 10 0.12 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 9 0.12 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 9 0.12 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 9 0.12 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 9 0.12 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 18 0.12 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 9 0.12 0 0
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 8 0.12 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 8 0.12 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 11 0.12 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 9 0.12 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 9 0.11 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 10 0.11 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 0 25 0.11 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 8 0.11 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 8 0.11 0 0