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TSC2 and renal failure are reported together in 1 article.
Gene
TSC2
- HGNC
- HGNC:12363
15articles
15mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Renal failure
523articles
523mentions
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 and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
PMID 36422197 | PMCID PMC9692281 | DOI 10.3390/medicina58111657 · Medicina (Kaunas, Lithuania) · 2022 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TSC2 | “Three detected variants were novel, identified at PKD1 (c.1758A > C), PKD2L2 (c.1364A > T), and TSC2 (deletion of a’a at the 3’UTR, R1680C) genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PKD1 | “Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2 | “Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations.” | 0.98 | hgnc_dict_v1 |