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TSC2 and polycystic kidney disease are reported together in 2 articles.
Gene
TSC2
- HGNC
- HGNC:12363
15articles
15mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Polycystic kidney disease
66articles
66mentions
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 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 | polycystic kidney disease | “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.” | 0.98 | 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 |
Exome sequencing of Saudi Arabian patients with ADPKD.
PMID 31488014 | PMCID PMC6735335 | DOI 10.1080/0886022X.2019.1655453 · Renal failure · 2019 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TSC2 | “In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Exome sequencing of Saudi Arabian patients with ADPKD.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PKD1 | “The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2 | “The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation.” | 0.98 | hgnc_dict_v1 |