Harmonizome 3.0

From GeneRIF Biological Term Annotations

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

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From HPO Gene-Disease Associations

genes associated with the dysfunctional alternative complement pathway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Dysfunctional Alternative Complement Pathway in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From CellMarker Gene-Cell Type Associations

genes associated with the Dysfunctional T cell_Lung_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.