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FBXO32 and cardiomyopathy are reported together in 3 articles.
Gene
FBXO32
- HGNC
- HGNC:16731
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Cardiomyopathy
- HPO
- HP:0001638
618articles
618mentions
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
3 records shown · first 60Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosis.
PMID 34272480 | PMCID PMC8285540 | DOI 10.1038/s42003-021-02391-9 · Communications biology · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FBXO32 | “Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ATF2 | “Expression of mutant FBXO32 in cells is sufficient to induce CHOP-associated apoptosis, to increase the ATF2 transcription factor and to impair ATF2 ubiquitination.” | 0.98 | hgnc_dict_v1 |
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
PMID 26768247 | PMCID PMC4714499 | DOI 10.1186/s12881-016-0267-5 · BMC medical genetics · 2016 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FBXO32 | “A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “In consanguineous families, homozygosity mapping and whole exome sequencing (WES) can be utilized to identify the genetic defects in recessively inherited DCM. METHODS: In a consanguineous family with four affected siblings with severe DCM, we combined homozygosity mapping, linkage analysis and WES, to uncover the genetic defect.” | 0.80 | saudi_context_rules_v1 |
| variant | p.Gly243Arg | “WES detected ~47,000 variants that were filtered to a homozygous mutation (p.Gly243Arg) in the FBXO32 gene, located within the identified ROH.” | 0.95 | hgvs_regex_v1 |
FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.
PMID 26753747 | PMCID PMC4707779 | DOI 10.1186/s13059-015-0861-4 · Genome biology · 2016 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FBXO32 | “FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.” | 0.98 | phenotype_alias_lexicon_v2 |