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BSCL2 and intellectual disability are reported together in 1 article.
Gene
BSCL2
- HGNC
- HGNC:15832
2articles
2mentions
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 60Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
PMID 25721873 | DOI 10.1016/j.ejmg.2015.02.002 · European journal of medical genetics · 2015 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BSCL2 | “Four different but overlapping phenotypes (CGL1-4) have been identified, which are caused by mutations in AGPAT2 at 9q34.3, BSCL2 at 11q13, CAV1 at 7q31.1, and PTRF at 17q21.2.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Congenital generalized lipodystrophies (CGLs) are a heterogeneous group of rare, monogenic disorders characterized by loss of sub-cutaneous fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism and mental retardation.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | AGPAT2 | “Four different but overlapping phenotypes (CGL1-4) have been identified, which are caused by mutations in AGPAT2 at 9q34.3, BSCL2 at 11q13, CAV1 at 7q31.1, and PTRF at 17q21.2.” | 0.98 | hgnc_dict_v1 |
| gene | CAV1 | “Four different but overlapping phenotypes (CGL1-4) have been identified, which are caused by mutations in AGPAT2 at 9q34.3, BSCL2 at 11q13, CAV1 at 7q31.1, and PTRF at 17q21.2.” | 0.98 | hgnc_dict_v1 |