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NOTCH3 and intellectual disability are reported together in 1 article.
Gene
NOTCH3
- HGNC
- HGNC:7883
17articles
17mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
stroke 6colorectal cancer 2diabetes mellitus 2hypertension 2Alzheimer disease 1breast cancer 1intellectual disability 1neurodevelopmental disorder 1
Reported variants (articles · ClinVar status)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60A 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
Evidence preview
| 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 | intellectual disability | “His father, uncle, and grandfather died due to ischemic strokes and cognitive impairment (similar condition).” | 0.93 | phenotype_alias_lexicon_v2 |
| 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 |
| 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 |