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ACACB and Noonan syndrome are reported together in 1 article.
Gene
ACACB
- HGNC
- HGNC:85
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Noonan syndrome
8articles
8mentions
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 60Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
PMID 32870709 | DOI 10.1161/CIRCGEN.120.002969 · Circulation. Genomic and precision medicine · 2020 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ACACB | “Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1).” | 0.98 | hgnc_dict_v1 |
| phenotype | Noonan syndrome | “Based on the likelihood of founder mutation and on the clinical diagnosis, genetic test was categorized to either (1) targeted genetic test with targeted mutation test, single-gene test, or multigene panel for Noonan syndrome, or (2) untargeted genetic test with whole-exome sequencing or whole-genome sequencing.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | AASDH | “Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1).” | 0.98 | hgnc_dict_v1 |
| gene | CASZ1 | “Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1).” | 0.98 | hgnc_dict_v1 |