NCBI PheGenI statistics

Tool stats & trends

Looking to identify usage trends or leading experts?


NCBI PheGenI specifications


Unique identifier OMICS_05339
Name NCBI PheGenI
Alternative name Phenotype-Genotype Integrator
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens

Publication for Phenotype-Genotype Integrator

NCBI PheGenI citations


A Snapshot of the Hepatic Transcriptome: Ad Libitum Alcohol Intake Suppresses Expression of Cholesterol Synthesis Genes in Alcohol Preferring (P) Rats

PLoS One
PMCID: 4277277
PMID: 25542004
DOI: 10.1371/journal.pone.0110501

[…] fold reduction) and Kif26b (3.0 fold reduction). We confirmed alterations in gene expression in all of these transcripts. We then looked for phenotypes that could be important for our study using The Phenotype-Genotype Integrator (PheGenI) and PhenoGen Informatics . PheGenI merges NHGRI genome-wide association study (GWAS) catalog data with databases housed at the National Center for Biotechnolog […]


Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics

BMC Res Notes
PMCID: 4068968
PMID: 24924344
DOI: 10.1186/1756-0500-7-360

[…] ated with cisplatin resistance [], but it is not known how this relates to Oxaliplatin and Arsenic Trioxide. We did look up expressions quantitative trait loc (eQTL)status for these SNPs using NCBI’s Phenotype-Genotype Integrator (PheGenI) database, and none of this significant SNPs were in known eQTL regions []. These associations should be followed up in future studies, in both functional experi […]


Expression of Phosphofructokinase in Skeletal Muscle Is Influenced by Genetic Variation and Associated With Insulin Sensitivity

PMCID: 3931395
PMID: 24306210
DOI: 10.2337/db13-1301

[…] riptional regulation of gene expression (P = 0.009, Fisher exact test).Further support for the identified muscle eQTLs was obtained by probing databases containing published eQTLs. In particular, the Phenotype-Genotype Integrator (, Pritchard’s laboratory eQTL browser (, and Genevar () were searched and a skele […]


Resolving the polymorphism in probe problem is critical for correct interpretation of expression QTL studies

Nucleic Acids Res
PMCID: 3627570
PMID: 23435227
DOI: 10.1093/nar/gkt069

[…] believe that these data should be reassessed for potential false signals caused by polymorphism-in-probe issues, especially given the widespread distribution of these data via catalogues such as the Phenotype–Genotype Integrator, eQTLbrowser, seeQTL (), SNPexpress () and GeneVar (). Ideally, these catalogues should automatically flag up any suspect signals arising from polymorphism-containing pro […]


Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease

PLoS One
PMCID: 3246490
PMID: 22216278
DOI: 10.1371/journal.pone.0029427
call_split See protocol

[…] al of 20,225 variants located in 88 different genes were tested for association in our Lebanese CAD cohort using imputation-based analysis. SNPs were selected on the basis of MI/CAD phenotype in NCBI Phenotype-Genotype Integrator (PheGenI) ( and on literature review , , , . Imputation utilizes the Lebanese population genotype data from 4,784 SNPs, in c […]


Looking to check out a full list of citations?

NCBI PheGenI institution(s)
Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD, USA; National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA

NCBI PheGenI reviews

star_border star_border star_border star_border star_border
star star star star star

Be the first to review NCBI PheGenI