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FOXE3 and hearing loss are reported together in 1 article.
Gene
FOXE3
- HGNC
- HGNC:3808
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Hearing loss
- HPO
- HP:0000365
663articles
663mentions
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 60Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
PMID 37758467 | DOI 10.1002/jgm.3601 · The journal of gene medicine · 2024 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FOXE3 | “Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Moreover, patients segregating additional phenotypes of spastic paraplegia, intellectual disability, hearing loss and microcephaly showed an additional homozygous sequence variant (NM_004722: c.953G>A: p.Arg318Gln) in AP4M1.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | AP4M1 | “Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “METHODS: In the present study, a clinical and genetic analysis was performed of six patients with anophthalmia and microphthalmia and/or additional phenotypes of intellectual disability, developmental delay and cerebral palsy from a large consanguineous Pakistani family.” | 0.98 | phenotype_alias_lexicon_v2 |