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NOTCH3 and neurodevelopmental disorder 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
Neurodevelopmental disorder
- HPO
- HP:0012759
450articles
450mentions
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 60Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
PMID 39191170 | PMCID PMC11400611 | DOI 10.1016/j.ebiom.2024.105297 · EBioMedicine · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NOTCH3 | “Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.” | 0.98 | hgnc_dict_v1 |
| 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 |
| 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 |