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ABL1 and congenital heart disease are reported together in 1 article.
Gene
ABL1
- HGNC
- HGNC:76
22articles
22mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
PMID 33783941 | DOI 10.1002/ajmg.a.62194 · American journal of medical genetics. Part A · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ABL1 | “Three were found to have pathogenic ABL1 variants using whole exome sequencing (WES) or whole genome sequencing (WGS).” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “Their phenotype was consistent with the congenital heart disease and skeletal malformations syndrome (CHDSKM), which has been associated with ABL1 variants.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SCARF2 | “Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2.” | 0.98 | hgnc_dict_v1 |