Name

ClinVar Gene-Phenotype Associations Dataset (Archived)

From ClinVar

SNP-phenotype associations curated by ClinVar users from various sources

CTD Gene-Disease Associations Dataset

From Comparative Toxicogenomics Database

Disease-gene interactions from manually curated literature

dbGAP Gene-Trait Associations Dataset

From Database of Genotypes and Phenotypes

Gene-trait associations curated from genetic association studies

GAD Gene-Disease Associations Dataset

From Genetic Association Database

Gene-disease associations curated from genetic association studies

GAD High Level Gene-Disease Associations Dataset

From Genetic Association Database

Gene-disease associations curated from genetic association studies

GWAS Catalog SNP-Phenotype Associations Dataset (Archived)

From GWAS Catalog

SNP-phenotype association p-values curated from published GWAS

GWASdb SNP-Disease Associations Dataset

From GWASdb

SNP-disease association p-values curated from published GWAS

GWASdb SNP-Phenotype Associations Dataset

From GWASdb

SNP-phenotype association p-values curated from published GWAS

HPO Gene-Disease Associations Dataset

From Human Phenotype Ontology

Phenotype-causing gene mutations of human phenotypes from disease knowledgebases

HuGE Navigator Gene-Phenotype Associations Dataset

From HuGE Navigator

Gene-phenotype associations extracted from published GWAS by automated text-mining

MPO Gene-Phenotype Associations Dataset (Archived)

From Mammalian Phenotype Ontology

Observed phenotypes of transgenic mice collected from mouse phenotyping studies

OMIM Gene-Disease Associations Dataset

From Online Mendelian Inheritance in Man

Disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications

PhosphoSitePlus Phosphosite-Disease Associations Dataset

From PhosphoSitePlus

Disease-phosphosite associations curated from literature

Tabula Sapiens Gene-Cell Associations Dataset

From Tabula Sapiens

Gene expression data from Tabula Sapiens scRNA-seq counts

DisGeNET Gene-Disease Associations Dataset

From DisGeNET

Gene-disease associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature

DisGeNET Gene-Phenotype Associations Dataset

From DisGeNET

Gene-phenotype associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature

PFOCR Pathway Figure Associations 2023 Dataset (Archived)

From Pathway Figure Optical Character Recognition

Sets of genes/proteins extracted from pathway figures in research publications using optical character recognition

MGI Mouse Phenotype Associations 2023 Dataset

From Mammalian Phenotype Ontology

Observed phenotypes of transgenic mice collected from mouse phenotyping studies

MW Enzyme Metabolite Associations Dataset

From Metabolomics Workbench

Biomolecular interactions between metabolites and proteins curated from experimental studies

CellMarker Gene-Cell Type Associations Dataset

From CellMarker

Cell type markers across various tissues from human and mouse scRNA-seq

PFOCR Pathway Figure Associations 2024 Dataset

From Pathway Figure Optical Character Recognition

Sets of genes/proteins extracted from pathway figures in research publications using optical character recognition, updated for 2024

ClinVar Gene-Phenotype Associations 2025 Dataset

From ClinVar

SNP-phenotype associations curated by ClinVar users from various sources

GWAS Catalog SNP-Phenotype Associations 2025 Dataset

From GWAS Catalog

SNP-phenotype association p-values curated from published GWAS

Rummagene Transcription Factor Associations 2026 Dataset

From Rummagene

Sets of genes regulated by transcription factors by mining supplemental materials

associations Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term associations in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

frontal-limbic white matter pathway associations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontal-limbic white matter pathway associations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.