Name

rare Gene Set

From GeneRIF Biological Term Annotations

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

erythema; rare diseases; skin diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease erythema; rare diseases; skin diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Rare Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Rare Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Rare Isolated Myopia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Rare Isolated Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Human - Lung v2 (HLCA) - L3 - Rare Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Lung v2 (HLCA) - L3 - Rare cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Rare genetic deafness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare genetic deafness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare venous malformation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare venous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare combined vascular malformation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare combined vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare genetic intellectual disability Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare genetic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare syndromic intellectual disability Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare isolated myopia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare isolated myopia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.