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SLCO1B1 and familial hypercholesterolemia are reported together in 1 article.
Gene
SLCO1B1
- HGNC
- HGNC:10959
15articles
15mentions
4variants with confirmed gene link
Most co-reported phenotypes (articles)
congenital myopathy 4diabetes mellitus 2rheumatoid arthritis 2cystic fibrosis 1dyslipidemia 1familial hypercholesterolemia 1hepatitis C 1hepatocellular carcinoma 1
Reported variants (articles · ClinVar status)
Phenotype
Familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
165articles
165mentions
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 60Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy.
PMID 29420305 | DOI 10.1515/dmpt-2017-0030 · Drug metabolism and personalized therapy · 2018 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLCO1B1 | “Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Methods The genomic DNA obtained from 50 individuals diagnosed with hypercholesterolemia was genotyped using light SNiP hybridization probes.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | congenital myopathy | “Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In addition to the genetic component, vitamin D (vit D) deficiency is common in Saudi Arabia and worldwide and may cause muscle dysfunction and ache. Methods The genomic DNA obtained from 50 individuals diagnosed with hypercholesterolemia was genotyped using light SNiP hybridization probes.” | 0.95 | saudi_context_rules_v1 |