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: C4022808
Disease: Cerebellar agenesis
Cerebellar agenesis 		2 1 1 0.50 1 2.5E-02
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		4 0 1 0.25 0 0
CUI: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		9 0 1 0.11 0 0
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		9 58 1 0.11 1 1.0E-02
CUI: C4082173
Disease: Porencephaly
Porencephaly 		9 0 1 0.11 0 0
CUI: C0424688
Disease: Small head
Small head 		11 1 1 9.1E-02 1 2.5E-02
CUI: C0021141
Disease: Inappropriate ADH Syndrome
Inappropriate ADH Syndrome 		14 0 1 7.1E-02 0 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		15 0 1 6.7E-02 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 1 5.0E-02 0 0
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		25 0 1 4.0E-02 0 0
CUI: C1334455
Disease: Pulmonary Sclerosing Hemangioma
Pulmonary Sclerosing Hemangioma 		33 0 1 3.0E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 1 3.0E-02 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 1 2.9E-02 0 0
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 		34 0 1 2.9E-02 0 0
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		35 0 1 2.9E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 1 2.5E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 1 2.0E-02 0 0
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		55 0 1 1.8E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 1.8E-02 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 14 1 1.7E-02 1 1.9E-02
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 5 1 1.7E-02 1 2.3E-02
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 1 1.5E-02 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 9 1 1.4E-02 2 4.3E-02
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		77 0 1 1.3E-02 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 0 1 1.2E-02 0 0