Harmonizome 3.0

From GeneRIF Biological Term Annotations

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

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin d hydroxylation-deficient rickets, type 1b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 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 Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Carbohydrate-deficient glycoprotein syndrome type I 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 CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Hydroxylation-Deficient Rickets, Type 1A from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Hydroxylation-Deficient Rickets, Type 1B from the curated CTD Gene-Disease Associations dataset.

From dbGAP Gene-Trait Associations

genes associated with the trait carbohydrate-deficient transferrin [Supplementary Concept] in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease genetically deficient metabolism of debrisoquine and other drugs in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease factor xii-deficient patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease growth hormone-deficient in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate-deficient transferrin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease deficient cytochrome c oxidase assembly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the E2A_KO_GSE43224_679_mouse_DN2 cells from WT and E2A-deficient murine fetal thymi gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the ABCA1_OE_GDS2303_189_mouse_LDL receptor-deficient livers gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

From HPO Gene-Disease Associations

genes associated with the deficient excision of uv-induced pyrimidine dimers in dna phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 17, cd3 gamma deficient phenotype from the curated OMIM Gene-Disease Associations 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 OMIM Gene-Disease Associations

genes associated with the immunodeficiency 7, tcr-alpha/beta deficient phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital merosin-deficient phenotype from the curated OMIM Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Adrenocorticotropin Deficient Adrenal Insufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Vitamin D Hydroxylation-Deficient Rickets, Type 1B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Carbohydrate Deficient Glycoprotein Syndrome Type 1O in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Carbohydrate Deficient Glycoprotein Syndrome Type 2K in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Deficient Excision Of Uv-Induced Pyrimidine Dimers In Dna in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital merosin-deficient muscular dystrophy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease RNASET2-deficient cystic leukoencephalopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

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

genes co-occuring with the disease SMARCB1-deficient renal medullary carcinoma 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 Congenital merosin-deficient muscular dystrophy 1A 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 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 Smarca4-deficient sarcoma of thorax 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 RNASET2-deficient cystic leukoencephalopathy 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 Vitamin D hydroxylation-deficient rickets phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the G6PD deficient hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 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.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the GP130-deficient hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Serum galactose-deficient IgA1 levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Serum galactose-deficient IgA1 levels in IgA nephropathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.