Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
TSC2 and cystic fibrosis are reported together in 1 article.
Gene
TSC2
- HGNC
- HGNC:12363
15articles
15mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Cystic fibrosis
157articles
157mentions
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 60Exome 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 | cystic fibrosis | “Abbreviations: ADPKD: Autosomal dominant polycystic kidney disease; CFTR: Cystic fibrosis transmembrane conductance regulator; EGF: Epidermal growth factor; MCIC: Mayo Clinic Imaging Classification; PKD: Polycystic kidney disease; TSC2: Tuberous sclerosis complex 2.” | 0.98 | 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 |