Gilbert Syndrome Genotype-Phenotype Data from Nepal, 2021-2025

Nepal-based clinical study of 75 patients with Gilbert Syndrome, analyzing correlations between UGT1A1 genotypes and biochemical parameters. The dataset includes genetic test results, bilirubin levels, and hematological data collected prospectively from July to November 2025, with retrospective medical records dating back to January 2021. It was authored by Pragya Gautam Ghimire and shared under a CC-BY-4.0 license.

Use Cases

• Train models to predict bilirubin levels based on UGT1A1 genotype status.
• Analyze genotype distribution and allele frequency in a specific Nepali cohort.
• Study correlations between genetic variants and non-hemolytic clinical parameters.
• Benchmark diagnostic criteria for Gilbert Syndrome in Asian populations.

Strengths

• Includes specific genetic (UGT1A1*60), biochemical (bilirubin levels), and demographic (age, sex) data points.
• Clear cohort definition with 75 patients and explicit exclusion criteria for hemolysis/hepatobiliary disease.
• Reports concrete genotype-phenotype correlation results with mean bilirubin levels per genotype.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Dataset is very small at 5.5 KB, indicating limited scope and sample size.

Provenance

Source

figshare, author Pragya Gautam Ghimire.

Collection Method

Prospective recruitment and data collection supplemented by retrospective review of medical records.

Time Range

Prospective data from July to November 2025; retrospective records from January 2021 to November 2025.

Freshness

Last updated 2026-04-13 17:29:42; freshness should be verified.

Geography

Nepal.