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LRRCC1 and Bardet-Biedl syndrome are reported together in 1 article.
Gene
LRRCC1
- HGNC
- HGNC:29373
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Bardet-Biedl syndrome
24articles
24mentions
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 60Characterizing the morbid genome of ciliopathies.
PMID 27894351 | PMCID PMC5126998 | DOI 10.1186/s13059-016-1099-5 · Genome biology · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LRRCC1 | “Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis.” | 0.98 | hgnc_dict_v1 |
| phenotype | Bardet-Biedl syndrome | “We also provide the strongest evidence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome and other ciliopathies.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TXNDC15 | “Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on independent loss of function mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its deficiency on ciliary signaling.” | 0.98 | hgnc_dict_v1 |
| gene | TRAPPC3 | “Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis.” | 0.98 | hgnc_dict_v1 |