Name

Inborn Aminoaciduria Gene Set

From DisGeNET Gene-Disease Associations

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

aminoaciduria; glucosuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aminoaciduria; glucosuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aminoaciduria Gene Set

From GeneRIF Biological Term Annotations

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

renal aminoaciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the renal aminoaciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized aminoaciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized aminoaciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aminoaciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the aminoaciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

transient aminoaciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the transient aminoaciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aminoaciduria Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aminoaciduria phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dicarboxylic aminoaciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the dicarboxylic aminoaciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

Aminoaciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Transient Aminoaciduria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Aminoaciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Generalized Aminoaciduria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Aminoaciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

aminoaciduria Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the aminoaciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) pathway from the Reactome Pathways 2024 dataset.

Dicarboxylic aminoaciduria Gene Set

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

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

Dicarboxylic aminoaciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Dicarboxylic aminoaciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipid Metabolism, Inborn Errors Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipid Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

Pyruvate Metabolism, Inborn Errors Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

Metabolism, Inborn Errors Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

Purine-Pyrimidine Metabolism, Inborn Errors Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine-Pyrimidine Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

Amino Acid Metabolism, Inborn Errors Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amino Acid Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

Genetic Diseases, Inborn Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Genetic Diseases, Inborn from the curated CTD Gene-Disease Associations dataset.

Carbohydrate Metabolism, Inborn Errors Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbohydrate Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

Brain Diseases, Metabolic, Inborn Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Brain Diseases, Metabolic, Inborn from the curated CTD Gene-Disease Associations dataset.

amino acid disorder, nos; amino acid metabolism, inborn errors; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

beta thalassemia; beta-thalassemia; hemochromatosis; iron overload; metal metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease beta thalassemia; beta-thalassemia; hemochromatosis; iron overload; metal metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cockayne syndrome; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cockayne syndrome; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disorder of muscle, unspec; lipid metabolism, inborn errors; muscular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disorder of muscle, unspec; lipid metabolism, inborn errors; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amino acid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amino acid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

embryo loss; genetic diseases, inborn; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease embryo loss; genetic diseases, inborn; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; genetic diseases, inborn; lymphatic metastasis; mammary neoplasms; neoplasm invasiveness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; genetic diseases, inborn; lymphatic metastasis; mammary neoplasms; neoplasm invasiveness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypodontia; cleft lip; cleft palate; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypodontia; cleft lip; cleft palate; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn; hearing impairment; hearing loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn; hearing impairment; hearing loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain ischemia; diabetes mellitus; genetic diseases, inborn; hypertension; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; diabetes mellitus; genetic diseases, inborn; hypertension; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, dilated; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, dilated; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn; syndrome; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn; syndrome; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lipid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; lipid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital megacolon; hirschsprung disease; urea cycle disorders, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital megacolon; hirschsprung disease; urea cycle disorders, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn; polycythemia vera; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; lipid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lipid metabolism, inborn errors; sudden infant death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism, inborn errors; sudden infant death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amino acid disorder, nos; amino acid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; craniosynostoses; craniosynostosis; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; craniosynostoses; craniosynostosis; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; metal metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; metal metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; lipid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inborn Gene Set

From GeneRIF Biological Term Annotations

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

Metabolism, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Lipid Metabolism, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Lipid Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Urea Cycle Disorders, Inborn Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Urea Cycle Disorders, Inborn phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Renal Tubular Transport, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Renal Tubular Transport, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Purine-Pyrimidine Metabolism, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Purine-Pyrimidine Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Steroid Metabolism, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Steroid Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Amino Acid Metabolism, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Amino Acid Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genetic Diseases, Inborn Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Metal Metabolism, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Metal Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Carbohydrate Metabolism, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Carbohydrate Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Pyruvate Metabolism, Inborn Errors Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pyruvate Metabolism, Inborn Errors in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Inborn error of immunity Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Inborn error of immunity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Inborn mitochondrial myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Inborn mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Inborn glycerol kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Inborn glycerol kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.