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1 records shown · first 60Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
PMID 31263063 | PMCID PMC6683715 | DOI 10.1681/ASN.2018101054 · Journal of the American Society of Nephrology : JASN · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs9273542 | “It confirmed the previously reported association with the HLA-DR/DQ region (lead single-nucleotide polymorphism [SNP] rs9273542, P=1.59×10-43; odds ratio [OR], 3.39; 95% confidence interval [95% CI], 2.86 to 4.03) and identified two additional loci outside the HLA region on chromosomes 4q13.3 and 6q22.1.” | 0.90 | hgvs_regex_v1 |
| gene | CALHM6 | “The latter contains the calcium homeostasis modulator family member 6 gene CALHM6 (previously called FAM26F).” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs2637678 | “CALHM6 is implicated in immune response modulation; the lead SNP (rs2637678, P=1.27×10-17; OR, 0.51; 95% CI, 0.44 to 0.60) exhibits strong expression quantitative trait loci effects, the risk allele being associated with lower lymphocytic expression of CALHM6.” | 0.90 | hgvs_regex_v1 |