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CLRN1 and hearing loss are reported together in 2 articles.

Gene

CLRN1

2articles

2mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

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.

2 records shown · first 60

PMID 39016003 | DOI 10.1080/13816810.2024.2374866 · Ophthalmic genetics · 2024 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	CLRN1	“Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause.”	0.98	hgnc_dict_v1
phenotype	hearing loss	“Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause.”	0.93	phenotype_alias_lexicon_v2
gene	USH2A	“RESULTS: Ten probands (thirteen patients) were identified-seven probands (nine patients) with clinically diagnosed Usher syndrome and three additional probands (four patients) with biallelic homozygous USH2A variants.”	0.98	hgnc_dict_v1
gene	MYO7A	“Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause.”	0.98	hgnc_dict_v1

PMID 28469144 | PMCID PMC5431179 | DOI 10.1038/s41598-017-01577-8 · Scientific reports · 2017 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	CLRN1	“A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.”	0.98	hgnc_dict_v1
phenotype	hearing loss	“In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutation.”	0.93	phenotype_alias_lexicon_v2
phenotype	retinal dystrophy	“In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutation.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutation. Genome-wide linkage analysis revealed two small candidate regions on chromosome 3, one containing the USH3A gene CLRN1, which has never been associated with Usher syndrome in Saudi Arabia. We identified this mutation in an additional two of seven unrelated mutation-negative Saudi USH1 patients.”	0.95	saudi_context_rules_v1