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TSC2 and intellectual disability are reported together in 1 article.
Gene
TSC2
- HGNC
- HGNC:12363
15articles
15mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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 60The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.
PMID 34017900 | PMCID PMC8114745 | DOI 10.1177/2329048X211012817 · Child neurology open · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TSC2 | “RESULTS: Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI).” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Our data did not demonstrate that intellectual disability and infantile spasms were more common in TSC2 mutations.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TSC1 | “RESULTS: Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI).” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Patients with TSC2 mutations had a higher frequency of early-onset epilepsy and more frequent systemic manifestations.” | 0.98 | phenotype_alias_lexicon_v2 |