Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1

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Subtype of: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
MONDO_0000914
NOTCH3 Causal
10227618 10371548 10802807 10854111 11058919 11102981 11559313 11755616 11810186 12136071 12146805 12589106 12810003 15229130 15300988 15350543 15364702 15378071 15818833 16009764 24000151 9388399
ClinGen, Open Targets
All1 Causal1 Unknown0
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Inherited thrombocytopenia 1 shared geneNOTCH3 Related via 1 shared gene including NOTCH3. Lateral meningocele syndrome 1 shared geneNOTCH3 Related via 1 shared gene including NOTCH3. Myofibromatosis, infantile 2 1 shared geneNOTCH3 Related via 1 shared gene including NOTCH3. Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 shared geneNOTCH3 Related via 1 shared gene including NOTCH3. Myofibromatosis 1 shared geneNOTCH3 Related via 1 shared gene including NOTCH3.