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: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 11 0.14 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 9 10 0.12 1 2.7E-02
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 9 0.12 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 9 0.12 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 9 0.11 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 8 17 0.10 1 2.8E-02
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 16 8.7E-02 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 9 8.3E-02 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 0 9 8.0E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		32 0 6 7.8E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 99 6 7.7E-02 4 3.2E-02
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 8 7.1E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 6 7.0E-02 6 7.6E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 7 6.8E-02 0 0
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 7 6.7E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 7 6.3E-02 0 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		17 0 4 6.2E-02 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 4 5 6.2E-02 2 6.5E-02
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 0 8 6.2E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 26 16 6.1E-02 1 1.9E-02
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 3 4 6.0E-02 2 6.7E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 9 5.8E-02 0 0
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		4 0 3 5.8E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 5 5.7E-02 0 0
CUI: C1838610
Disease: Aplasia of the 1st metacarpal
Aplasia of the 1st metacarpal 		5 0 3 5.7E-02 0 0