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: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria 		5 0 2 1.0E-01 0 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		6 0 2 9.5E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 0 3 8.8E-02 0 0
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		10 7 2 8.0E-02 1 5.6E-02
CUI: C1367420
Disease: Kaposiform Hemangioendothelioma
Kaposiform Hemangioendothelioma 		11 0 2 7.7E-02 0 0
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		12 2 2 7.4E-02 1 7.7E-02
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma 		13 0 2 7.1E-02 0 0
CUI: C1832033
Disease: Adult Subependymal Giant Cell Astrocytoma
Adult Subependymal Giant Cell Astrocytoma 		14 0 2 6.9E-02 0 0
CUI: C1832034
Disease: Childhood Subependymal Giant Cell Astrocytoma
Childhood Subependymal Giant Cell Astrocytoma 		14 0 2 6.9E-02 0 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		15 0 2 6.7E-02 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 3 5 6.3E-02 1 7.1E-02
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 2 6.2E-02 0 0
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 5.9E-02 1 8.3E-02
CUI: C0221360
Disease: Congenital absence of diaphragm
Congenital absence of diaphragm 		1 0 1 5.9E-02 0 0
CUI: C0264097
Disease: Calcaneal apophysitis
Calcaneal apophysitis 		1 0 1 5.9E-02 0 0
CUI: C0265756
Disease: Congenital atresia of larynx
Congenital atresia of larynx 		1 0 1 5.9E-02 0 0
CUI: C0431379
Disease: Laminar heterotopia
Laminar heterotopia 		1 0 1 5.9E-02 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 5.9E-02 0 0
CUI: C1709573
Disease: Pleural Epithelioid Hemangioendothelioma
Pleural Epithelioid Hemangioendothelioma 		1 0 1 5.9E-02 0 0
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		1 0 1 5.9E-02 0 0
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency 		1 0 1 5.9E-02 0 0
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		1 0 1 5.9E-02 0 0
CUI: C1850533
Disease: Yellow subcutaneous tissue covered by thin, scaly skin
Yellow subcutaneous tissue covered by thin, scaly skin 		1 0 1 5.9E-02 0 0
CUI: C1856017
Disease: Adrenal gland dysgenesis
Adrenal gland dysgenesis 		1 0 1 5.9E-02 0 0
CUI: C1856027
Disease: Cleft in skull base
Cleft in skull base 		1 0 1 5.9E-02 0 0