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CABP4 and Leber congenital amaurosis are reported together in 2 articles.
Gene
CABP4
- HGNC
- HGNC:1386
6articles
6mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Leber congenital amaurosis
26articles
26mentions
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
2 records shown · first 60Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
PMID 38468396 | DOI 10.1111/cge.14517 · Clinical genetics · 2024 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CABP4 | “Homozygous pathogenic variants were identified in known IRD genes (ATF6, CRB1, CABP4, RDH12, RIMS2, RPGRIP1, SPATA7).” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RIMS2 | “Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.” | 0.98 | hgnc_dict_v1 |
| gene | RPGRIP1 | “A potential founder variant was found in RPGRIP1.” | 0.98 | hgnc_dict_v1 |
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.
PMID 20157620 | PMCID PMC2820108 · Molecular vision · 2010 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CABP4 | “A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “PURPOSE: To describe the finding of a novel calcium binding protein 4 (CABP4) mutation in a family with Leber congenital amaurosis (LCA) phenotype.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “METHODS: Homozygosity mapping was performed in a consanguineous family with four affected members originally referred as cases of LCA.” | 0.80 | saudi_context_rules_v1 |