NOTCH1
Cardiovascular System · Angiogenesis & Lymphangiogenesis
Why is NOTCH1 discussed in both development and cancer?
NOTCH1 makes a receptor that tells cells how to specialize as tissues develop. Changes in this signaling can have different effects in an inherited developmental disorder and in a tumor, so the testing context matters.
- Common Gene Name
- notch receptor 1
- NCBI Gene ID
- 4851
- Chromosome
- 9
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (4 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| NOTCH1-related AOS spectrum disorder | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2025-03-07 |
| Critical congenital heart disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2015-11 | |
| Adams-Oliver syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2015-11 | |
| Head and neck squamous cell carcinoma | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2015-11 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
← Back to Cardiovascular System