Type	Entity	Source evidence	Confidence	Extractor
gene	NOTCH3	“Furthermore, our study identified several novel and common gene variants in stroke patients through WES, including COL4A2, PSEN2, NOTCH3, and RNF2.”	0.98	hgnc_dict_v1
phenotype	stroke	“Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression.”	0.98	phenotype_alias_lexicon_v2
gene	COL4A2	“Furthermore, our study identified several novel and common gene variants in stroke patients through WES, including COL4A2, PSEN2, NOTCH3, and RNF2.”	0.98	hgnc_dict_v1
gene	PSEN2	“Furthermore, our study identified several novel and common gene variants in stroke patients through WES, including COL4A2, PSEN2, NOTCH3, and RNF2.”	0.98	hgnc_dict_v1

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

PMID 39191170 | PMCID PMC11400611 | DOI 10.1016/j.ebiom.2024.105297 · EBioMedicine · 2024 · 3 validated mentions

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Type	Entity	Source evidence	Confidence	Extractor
gene	NOTCH3	“Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.”	0.98	hgnc_dict_v1
phenotype	stroke	“Biallelic loss-of-function variants (26 patients) lead to a neurodevelopmental disorder characterised by spasticity, childhood-onset stroke, and periatrial white matter volume loss resembling periventricular leukomalacia.”	0.98	phenotype_alias_lexicon_v2
phenotype	neurodevelopmental disorder	“Biallelic loss-of-function variants (26 patients) lead to a neurodevelopmental disorder characterised by spasticity, childhood-onset stroke, and periatrial white matter volume loss resembling periventricular leukomalacia.”	0.98	phenotype_alias_lexicon_v2

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Atypical clinical presentation with isolated frontotemporal dementia.

PMID 37181160 | PMCID PMC10174151 | DOI 10.25259/JNRP_88_2023 · Journal of neurosciences in rural practice · 2023 · 3 validated mentions

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Type	Entity	Source evidence	Confidence	Extractor
gene	NOTCH3	“Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and strokes, migraine-like headaches, psychiatric disturbance, and progressive dementia.”	0.98	hgnc_dict_v1
phenotype	stroke	“The current study reports an interesting case of CADASIL in a Saudi patient with a heterozygous mutation in exon 18 of the NOTCH3 gene presenting only with cognitive decline without migraine or stroke.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“The current study reports an interesting case of CADASIL in a Saudi patient with a heterozygous mutation in exon 18 of the NOTCH3 gene presenting only with cognitive decline without migraine or stroke.”	0.95	saudi_context_rules_v1

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

PMID 32414585 | DOI 10.1016/j.jstrokecerebrovasdis.2020.104832 · Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2020 · 6 validated mentions

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Type	Entity	Source evidence	Confidence	Extractor
gene	NOTCH3	“A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.”	0.98	hgnc_dict_v1
phenotype	stroke	“In this article, we report a 40-year-old male patient who presented with a two-year history of progressive cognitive decline including impaired attention, memory, executive functions, and processing speed whose family history was strongly positive for young-onset ischemic stroke and memory impairment.”	0.98	phenotype_alias_lexicon_v2
phenotype	intellectual disability	“His father, uncle, and grandfather died due to ischemic strokes and cognitive impairment (similar condition).”	0.93	phenotype_alias_lexicon_v2
population	Saudi Arabia	“A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.”	0.95	saudi_context_rules_v1

Novel mutation of the notch3 gene in arabic family with CADASIL.

PMID 22053260 | PMCID PMC3207232 | DOI 10.4081/ni.2011.e6 · Neurology international · 2011 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NOTCH3	“Mutations in the NOTCH3 gene are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult onset hereditary angiopathy leading to ischemic stroke, vascular dementia and psychiatric disorders.”	0.98	hgnc_dict_v1
phenotype	stroke	“Mutations in the NOTCH3 gene are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult onset hereditary angiopathy leading to ischemic stroke, vascular dementia and psychiatric disorders.”	0.98	phenotype_alias_lexicon_v2
gene	EGF	“All mutation of NOTCH3 described so far are striking stereotyped leading to the gain or loss of cystiene residue in a given epidermal growth factor (EGF), like repeat.”	0.98	hgnc_dict_v1

CADASIL in Arabs: clinical and genetic findings.

PMID 17996090 | PMCID PMC2190758 | DOI 10.1186/1471-2350-8-67 · BMC medical genetics · 2007 · 5 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NOTCH3	“CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to chromosome 19.”	0.98	hgnc_dict_v1
phenotype	stroke	“RESULTS: The mean age of onset was 31 +/- 6 and the clinical presentation included stroke in 68%, subcortical dementia in 17% and asymptomatic leukoariosis detected by MRI in 15%.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“METHODS: We studied three families from Saudi Arabia (Family A), Kuwait (Family B) and Yemen (Family C) with 19 individuals affected by CADASIL.”	0.95	saudi_context_rules_v1
variant	c.406C>T	“All NOTCH3 exons were screened for mutations, which revealed the presence of previously reported mutations c.406C>T (p.Arg110>Cys) in two families (family A&B) and c.475C>T (p.Arg133>Cys) mutation in family C.”	0.95	hgvs_regex_v1