Harmonizome 3.0

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term bh4 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, d phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperphenylalaninemia, BH4-Deficient, B from the curated CTD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease tetrahydrobiopterin (bh4) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GO Molecular Function Annotations 2015

genes performing the bh4 domain binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Apoptosis regulator, Bcl-2 protein, BH4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Apoptosis regulator, Bcl-2, BH4 motif, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From OMIM Gene-Disease Associations

genes associated with the hyperphenylalaninemia, bh4-deficient, d phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hyperphenylalaninemia, bh4-deficient, a phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hyperphenylalaninemia, bh4-deficient, b phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hyperphenylalaninemia, bh4-deficient, c phenotype from the curated OMIM Gene-Disease Associations dataset.

From Reactome Pathways 2014

proteins participating in the Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway from the Reactome Pathways dataset.

From Reactome Pathways 2024

proteins participating in the Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway from the Reactome Pathways 2024 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease BH4-deficient hyperphenylalaninemia A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease BH4-deficient hyperphenylalaninemia B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the BH4-Deficient Hyperphenylalaninemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.