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NOTCH1 and congenital heart disease are reported together in 1 article.
Gene
NOTCH1
- HGNC
- HGNC:7881
17articles
17mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
colorectal cancer 3breast cancer 2lymphoma 2prostate cancer 2congenital heart disease 1developmental delay 1diabetes mellitus 1
Reported variants (articles · ClinVar status)
Phenotype
Congenital heart disease
363articles
363mentions
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 60Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.
PMID 37811720 | PMCID PMC11550899 | DOI 10.1152/physiolgenomics.00070.2023 · Physiological genomics · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NOTCH1 | “NOTCH1 (highest number of variants) and MYH6 (highest number of recurrent variants) expression was elevated in endocardial cells and cardiomyocytes, respectively, and 60% of these gene variants were associated with tetralogy of Fallot and coarctation of the aorta, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GPATCH1 | “A stepwise analysis identified 90 variant-enriched CHD genes, of which six (GPATCH1, NYNRIN, TCLD2, CEP95, MAP3K19, and TTC36) were novel candidate CHD genes.” | 0.98 | hgnc_dict_v1 |
| gene | NYNRIN | “A stepwise analysis identified 90 variant-enriched CHD genes, of which six (GPATCH1, NYNRIN, TCLD2, CEP95, MAP3K19, and TTC36) were novel candidate CHD genes.” | 0.98 | hgnc_dict_v1 |