immunodeficiency due to purine nucleoside phosphorylase deficiency

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Results for "immunodeficiency due to purine nucleoside phosphorylase deficiency": 1002 gene sets

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immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Purine-nucleoside phosphorylase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Purine Nucleoside Phosphorylase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.
purine nucleoside phosphorylase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
purine nucleoside phosphorylase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease purine nucleoside phosphorylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
Purine-Nucleoside Phosphorylase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Purine-Nucleoside Phosphorylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Purine nucleoside phosphorylase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Purine nucleoside phosphorylase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Purine nucleoside phosphorylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Purine-nucleoside phosphorylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
purine-nucleoside phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Purine nucleoside phosphorylase I, inosine/guanosine-specific Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Purine nucleoside phosphorylase I, inosine/guanosine-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Purine nucleoside phosphorylase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Purine nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
decreased purine-nucleoside phosphorylase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal purine-nucleoside phosphorylase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
purine-nucleoside phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
decreased purine-nucleoside phosphorylase activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
purine-nucleoside phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
cirrhosis due to liver phosphorylase kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
pyrimidine-nucleoside phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the pyrimidine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Thymidine/pyrimidine-nucleoside phosphorylase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Thymidine/pyrimidine-nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Pyrimidine-nucleoside phosphorylase, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrimidine-nucleoside phosphorylase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside phosphorylase domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside phosphorylase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside phosphorylase, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside phosphorylase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside phosphorylase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Pyrimidine nucleoside phosphorylase, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrimidine nucleoside phosphorylase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
pyrimidine-nucleoside phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the pyrimidine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Purine phosphorylase, family 2, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Purine phosphorylase, family 2, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Severe combined immunodeficiency due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to ficolin 3 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.
severe combined immunodeficiency due to il2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to ada deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to ficolin 3 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to ficolin3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to CD3gamma deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to partial RAG1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ZAP70 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to LRBA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to STK4 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to STIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARD11 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to DOCK8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CTPS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ORAI1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to CD25 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to MASP-2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to moesin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CORO1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to OX40 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to IKK2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to MALT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LCK deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to a late component of complement deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Primary immunodeficiency syndrome due to p14 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LAT deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to GINS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
6-Hydroxy-7,8-Dihydro Purine Nucleoside Gene Set From DrugBank Drug Targets interacting proteins for the 6-Hydroxy-7,8-Dihydro Purine Nucleoside drug from the curated DrugBank Drug Targets dataset.
6-Hydroxy-1,6-Dihydro Purine Nucleoside Gene Set From DrugBank Drug Targets interacting proteins for the 6-Hydroxy-1,6-Dihydro Purine Nucleoside drug from the curated DrugBank Drug Targets dataset.
purine nucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside bisphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside bisphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside bisphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside bisphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleoside transmembrane transport Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleoside transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.
purine-specific nucleoside:sodium symporter activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine-specific nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine nucleoside binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine nucleoside binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine nucleoside metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleoside transmembrane transport Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleoside transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleoside bisphosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleoside bisphosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleoside bisphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleoside bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleoside bisphosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleoside bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine nucleoside binding Gene Set From GO Molecular Function Annotations 2023 genes performing the purine nucleoside binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine-specific nucleoside:sodium symporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine-specific nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine nucleoside metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleoside transmembrane transport Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleoside transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine nucleoside binding Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleoside binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine-specific nucleoside:sodium symporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine-specific nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
Deficiency Of Phosphorylase Kinase Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Phosphorylase Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glycogen phosphorylase kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen phosphorylase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency 18, severe combined immunodeficiency variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
acquired immunodeficiency syndrome; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; hiv infections; spondylarthropathies; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections; spondylarthropathies; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Immunodeficiency due to defect in cd3-zeta Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to Defect in CD3-Zeta Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.
osteomyelitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic abscesses due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cellulitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
immunodeficiency due to defect in mapbp-interacting protein Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.
Immunodeficiency due to defect in CD3-gamma Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common variable immunodeficiency; igg deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; igg deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
iga deficiency and common variable immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease iga deficiency and common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
celiac disease; common variable immunodeficiency; iga deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease celiac disease; common variable immunodeficiency; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
immunologic deficiency syndromes; severe combined immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common variable immunodeficiency; hemochromatosis; igg deficiency; infection Gene Set From GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; hemochromatosis; igg deficiency; infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) Gene Set From Reactome Pathways 2024 proteins participating in the IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) pathway from the Reactome Pathways 2024 dataset.
phosphorylase kinase complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the phosphorylase kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
phosphorylase kinase complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the phosphorylase kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
phosphorylase Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term phosphorylase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
phosphorylase kinase complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the phosphorylase kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
glycogen phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
s-methyl-5-thioadenosine phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the s-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
uridine phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
gdp-d-glucose phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the gdp-d-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
phosphorylase kinase regulator activity Gene Set From GO Molecular Function Annotations 2015 genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
phosphorylase kinase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
thymidine phosphorylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
PNP/MTAP phosphorylase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the PNP/MTAP phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Uridine phosphorylase, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Uridine phosphorylase, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphorylase kinase alpha/beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphorylase kinase alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Methylthioadenosine phosphorylase (MTAP) Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Methylthioadenosine phosphorylase (MTAP) protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphorylase kinase, gamma catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphorylase kinase, gamma catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GDP-L-galactose/GDP-D-glucose phosphorylase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GDP-L-galactose/GDP-D-glucose phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glycogen/starch/alpha-glucan phosphorylase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glycogen/starch/alpha-glucan phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
uridine phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
deoxyuridine phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the deoxyuridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
glycogen phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
phosphorylase kinase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
thymidine phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
1,4-alpha-oligoglucan phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the 1,4-alpha-oligoglucan phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
GDP-D-glucose phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the GDP-D-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
S-methyl-5-thioadenosine phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the S-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
guanosine phosphorylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the guanosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
phosphorylase kinase regulator activity Gene Set From GO Molecular Function Annotations 2023 genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
[phosphorylase] phosphatase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the [phosphorylase] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
uridine phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
deoxyuridine phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the deoxyuridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
glycogen phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
phosphorylase kinase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
thymidine phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
1,4-alpha-oligoglucan phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the 1,4-alpha-oligoglucan phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
GDP-D-glucose phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the GDP-D-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
S-methyl-5-thioadenosine phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the S-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
guanosine phosphorylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the guanosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
phosphorylase kinase regulator activity Gene Set From GO Molecular Function Annotations 2025 genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
[phosphorylase] phosphatase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the [phosphorylase] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Phosphorylase kinase complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Phosphorylase kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Phosphorylase kinase complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Phosphorylase kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SCID due to ADA deficiency, delayed onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to protein S deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gaucher disease, atypical, due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemolytic anemia due to hexokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex I deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocysteinemia due to MTHFR deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypermethioninemia due to adenosine kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria due to MTHFR deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex II deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set 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.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Obesity, severe, due to leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adenylate kinase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set 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.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
Congenital thrombotic disease, due to Protein C deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
{chronic infections, due to mbl deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to hrg deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to phosphofructokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
nephropathy due to cfhr5 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.
?isolated growth hormone deficiency due to defect in ghrf Gene Set From OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to heparin cofactor ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin receptor deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
glucocorticoid deficiency, due to acth unresponsiveness Gene Set From OMIM Gene-Disease Associations genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione peroxidase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
lacticacidemia due to pdx1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to itga7 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
anemia, hemolytic, due to umph1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
homocystinuria due to mthfr deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex i deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
metachromatic leukodystrophy due to sap-b deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome, due to cox deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperammonemia due to carbonic anhydrase va deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to g6pd deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to adenylate kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
emphysema due to aat deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to antithrombin iii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
aica-ribosiduria due to atic deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoaldosteronism, congenital, due to cmo i deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial cox4 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease due to deficiency of ncf-2 Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease due to deficiency of ncf-1 Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set From OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set From OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
hypermethioninemia due to adenosine kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to cytochrome c oxidase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
neurodegeneration due to cerebral folate transport deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex 1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to triosephosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
{resistance to malaria due to g6pd deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to hexokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy due to cpt ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
emphysema-cirrhosis, due to aat deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
?male infertility due to acrosin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy due to myoadenylate deaminase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.
Scid Due To Ada Deficiency, Early-Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Antibody Deficiency Due To Defect In Cd19 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Anemia Due To Hexokinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set 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.
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental And Speech Delay Due To Sox5 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteomalacia Due To Vitamin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to HRG deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant thrombophilia due to protein S deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SCID due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive ataxia due to ubiquinone deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to acid maltase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neonatal intrahepatic cholestasis due to citrin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to growth hormone secretagogue receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Interstitial lung disease due to ABCA3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to leptin receptor gene deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ehlers-Danlos syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to partial GHR deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Leigh syndrome due to mitochondrial complex IV deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to pro-opiomelanocortin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Gaucher disease due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Krabbe disease due to saposin A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to melanocortin 4 receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to HNF1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Encephalopathy due to GLUT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to glucokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to muscle beta-enolase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Epidermolysis bullosa simplex due to plakophilin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Limb-girdle muscular dystrophy due to POMK deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Vasculitis due to ADA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microcephalic primordial dwarfism due to RTTN deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autism spectrum disorder due to AUTS2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pyogenic bacterial infections due to MyD88 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to INSR deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to SIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to hexokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked lymphoproliferative disease due to XIAP deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Growth delay due to insulin-like growth factor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to prohormone convertase I deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to congenital leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to primary acid-labile subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to adenylate kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to HNF4A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glutathione reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Recurrent Neisseria infections due to factor D deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to CEP19 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neurometabolic disorder due to serine deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
nucleoside Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term nucleoside in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
nucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
trna nucleoside ribose methylation Gene Set From GO Biological Process Annotations 2015 genes participating in the trna nucleoside ribose methylation biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside diphosphate phosphorylation Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside diphosphate phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside transmembrane transport Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of nucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside bisphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside bisphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside bisphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside transport Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside transport biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of nucleoside transport Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of nucleoside transport biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of nucleoside transport Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of nucleoside transport biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of nucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside salvage Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside salvage biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside phosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside transport Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside transport biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside phosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside phosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside phosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside phosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside salvage Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside salvage biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyridine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyridine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyridine nucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyridine nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of nucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside bisphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside monophosphate phosphorylation Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside monophosphate phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
pyrimidine nucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the pyrimidine nucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the nucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
nucleoside phosphotransferase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside phosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside phosphate kinase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside phosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
mrna (nucleoside-2'-o-)-methyltransferase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the mrna (nucleoside-2'-o-)-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside-triphosphate diphosphatase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside-triphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside-diphosphatase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside-diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside:sodium symporter activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside kinase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside phosphate binding Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside phosphate binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside deoxyribosyltransferase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside deoxyribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
pyrimidine nucleoside binding Gene Set From GO Molecular Function Annotations 2015 genes performing the pyrimidine nucleoside binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside triphosphate adenylate kinase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside triphosphate adenylate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside binding Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside-triphosphatase regulator activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside-triphosphatase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside-triphosphatase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside-triphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nucleoside diphosphate kinase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nucleoside diphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Formamidopyrimidine nucleoside triphosphate Gene Set From HMDB Metabolites of Enzymes interacting proteins for the Formamidopyrimidine nucleoside triphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.
2,5-Diaminopyrimidine nucleoside triphosphate Gene Set From HMDB Metabolites of Enzymes interacting proteins for the 2,5-Diaminopyrimidine nucleoside triphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.
Concentrative nucleoside transporter CNT1/CNT2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Concentrative nucleoside transporter CNT1/CNT2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cap-specific mRNA (nucleoside-2-O-)-methyltransferase 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cap-specific mRNA (nucleoside-2-O-)-methyltransferase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside-triphosphatase, THEP1 type Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside-triphosphatase, THEP1 type protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Concentrative nucleoside transporter N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Concentrative nucleoside transporter N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Equilibrative nucleoside transporter 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Equilibrative nucleoside transporter 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Equilibrative nucleoside transporter 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Equilibrative nucleoside transporter 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Equilibrative nucleoside transporter 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Equilibrative nucleoside transporter 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Equilibrative nucleoside transporter 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Equilibrative nucleoside transporter 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Equilibrative nucleoside transporter Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Equilibrative nucleoside transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside phosphatase GDA1/CD39 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside phosphatase GDA1/CD39 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside diphosphate kinase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside diphosphate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside diphosphate kinase, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside diphosphate kinase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NACHT nucleoside triphosphatase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NACHT nucleoside triphosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Concentrative nucleoside transporter Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Concentrative nucleoside transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.
P-loop containing nucleoside triphosphate hydrolase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the P-loop containing nucleoside triphosphate hydrolase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside recognition Gate Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside recognition Gate protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Concentrative nucleoside transporter C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Concentrative nucleoside transporter C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside 2-deoxyribosyltransferase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside 2-deoxyribosyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside diphosphate kinase, NDK7 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside diphosphate kinase, NDK7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Concentrative nucleoside transporter CNT3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Concentrative nucleoside transporter CNT3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside-diphosphate kinase-like NDK-H5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside-diphosphate kinase-like NDK-H5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nucleoside diphosphate pyrophosphatase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nucleoside diphosphate pyrophosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Concentrative nucleoside transporter, metazoan/bacterial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Concentrative nucleoside transporter, metazoan/bacterial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
abnormal urine nucleoside level Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal urine nucleoside level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
pyrimidine nucleoside salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the pyrimidine nucleoside salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
pyrimidine nucleoside metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the pyrimidine nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside phosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside transport Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside transport biological process from the curated GO Biological Process Annotations 2023 dataset.
tRNA nucleoside ribose methylation Gene Set From GO Biological Process Annotations 2023 genes participating in the tRNA nucleoside ribose methylation biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of nucleoside transport Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of nucleoside transport biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside phosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside phosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
pyrimidine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the pyrimidine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside phosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside phosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
pyrimidine nucleoside transport Gene Set From GO Biological Process Annotations 2023 genes participating in the pyrimidine nucleoside transport biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
pyrimidine nucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the pyrimidine nucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
pyridine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the pyridine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of nucleoside transport Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of nucleoside transport biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside monophosphate phosphorylation Gene Set From GO Biological Process Annotations 2023 genes participating in the nucleoside monophosphate phosphorylation biological process from the curated GO Biological Process Annotations 2023 dataset.
nucleoside kinase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside:sodium symporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside triphosphate diphosphatase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside triphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
pyrimidine nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the pyrimidine nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside diphosphate phosphatase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside diphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside diphosphate kinase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside diphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside triphosphate adenylate kinase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside triphosphate adenylate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside monophosphate kinase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside monophosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside phosphotransferase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside phosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
mRNA (nucleoside-2'-O-)-methyltransferase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the mRNA (nucleoside-2'-O-)-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
abnormal urine nucleoside level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal urine nucleoside level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
pyrimidine nucleoside salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the pyrimidine nucleoside salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside import across plasma membrane Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
pyrimidine nucleoside metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the pyrimidine nucleoside metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside phosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside transport Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside transport biological process from the curated GO Biological Process Annotations 2025 dataset.
tRNA nucleoside ribose methylation Gene Set From GO Biological Process Annotations 2025 genes participating in the tRNA nucleoside ribose methylation biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of nucleoside transport Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of nucleoside transport biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside phosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside phosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
pyrimidine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the pyrimidine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside phosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside phosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
pyrimidine nucleoside transport Gene Set From GO Biological Process Annotations 2025 genes participating in the pyrimidine nucleoside transport biological process from the curated GO Biological Process Annotations 2025 dataset.
pyrimidine nucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the pyrimidine nucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
pyridine nucleoside catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the pyridine nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the nucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of nucleoside transport Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of nucleoside transport biological process from the curated GO Biological Process Annotations 2025 dataset.
nucleoside kinase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside:sodium symporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside triphosphate diphosphatase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside triphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
pyrimidine nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the pyrimidine nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside diphosphate phosphatase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside diphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside diphosphate kinase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside diphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside triphosphate adenylate kinase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside triphosphate adenylate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside monophosphate kinase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside monophosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside phosphotransferase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside phosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
nucleoside transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the nucleoside transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
mRNA (nucleoside-2'-O-)-methyltransferase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the mRNA (nucleoside-2'-O-)-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Neuraminidase deficiency with beta-galactosidase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set From GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
choline deficiency; dna damage; folic acid deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
protein c deficiency; protein s deficiency; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set From GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set From Reactome Pathways 2024 proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.
N(2)-(2-aminocyclohexyl)-N(6)-(3-chlorophenyl)-9-ethyl-9H-purine-2,6-diamine Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N(2)-(2-aminocyclohexyl)-N(6)-(3-chlorophenyl)-9-ethyl-9H-purine-2,6-diamine from the curated CTD Gene-Chemical Interactions dataset.
Purine Nucleosides Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Purine Nucleosides from the curated CTD Gene-Chemical Interactions 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.
purine-pyrimidine metabolic disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease purine-pyrimidine metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
purine-pyrimidine metabolic disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease purine-pyrimidine metabolic disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
Purine Riboside-5'-Monophosphate Gene Set From DrugBank Drug Targets interacting proteins for the Purine Riboside-5'-Monophosphate drug from the curated DrugBank Drug Targets dataset.
9-CYCLOPENTYL-6-[2-(3-IMIDAZOL-1-YL-PROPOXY)-PHENYLAMINO]-9H-PURINE-2-CARBONITRILE Gene Set From DrugBank Drug Targets interacting proteins for the 9-CYCLOPENTYL-6-[2-(3-IMIDAZOL-1-YL-PROPOXY)-PHENYLAMINO]-9H-PURINE-2-CARBONITRILE drug from the curated DrugBank Drug Targets dataset.
6-{4-[4-(4-CHLOROPHENYL)PIPERIDIN-4-YL]PHENYL}-9H-PURINE Gene Set From DrugBank Drug Targets interacting proteins for the 6-{4-[4-(4-CHLOROPHENYL)PIPERIDIN-4-YL]PHENYL}-9H-PURINE drug from the curated DrugBank Drug Targets dataset.
N~6~-cyclohexyl-N~2~-(4-morpholin-4-ylphenyl)-9H-purine-2,6-diamine Gene Set From DrugBank Drug Targets interacting proteins for the N~6~-cyclohexyl-N~2~-(4-morpholin-4-ylphenyl)-9H-purine-2,6-diamine drug from the curated DrugBank Drug Targets dataset.
7-BENZYL-1,3-DIMETHYL-8-PIPERAZIN-1-YL-3,7-DIHYDRO-PURINE-2,6-DIONE Gene Set From DrugBank Drug Targets interacting proteins for the 7-BENZYL-1,3-DIMETHYL-8-PIPERAZIN-1-YL-3,7-DIHYDRO-PURINE-2,6-DIONE drug from the curated DrugBank Drug Targets dataset.
6-CYCLOHEXYLMETHYLOXY-2-(4'-HYDROXYANILINO)PURINE Gene Set From DrugBank Drug Targets interacting proteins for the 6-CYCLOHEXYLMETHYLOXY-2-(4'-HYDROXYANILINO)PURINE drug from the curated DrugBank Drug Targets dataset.
O6-CYCLOHEXYLMETHOXY-2-(4'-SULPHAMOYLANILINO) PURINE Gene Set From DrugBank Drug Targets interacting proteins for the O6-CYCLOHEXYLMETHOXY-2-(4'-SULPHAMOYLANILINO) PURINE drug from the curated DrugBank Drug Targets dataset.
6-CYCLOHEXYLMETHOXY-2-(3'-CHLOROANILINO) PURINE Gene Set From DrugBank Drug Targets interacting proteins for the 6-CYCLOHEXYLMETHOXY-2-(3'-CHLOROANILINO) PURINE drug from the curated DrugBank Drug Targets dataset.
7,9-Dihydro-1h-Purine-2,6,8(3h)-Trione Gene Set From DrugBank Drug Targets interacting proteins for the 7,9-Dihydro-1h-Purine-2,6,8(3h)-Trione drug from the curated DrugBank Drug Targets dataset.
6-MORPHOLIN-4-YL-9H-PURINE Gene Set From DrugBank Drug Targets interacting proteins for the 6-MORPHOLIN-4-YL-9H-PURINE drug from the curated DrugBank Drug Targets dataset.
8-(2-CHLOROPHENYLAMINO)-2-(2,6-DIFLUOROPHENYLAMINO)-9-ETHYL-9H-PURINE-1,7-DIIUM Gene Set From DrugBank Drug Targets interacting proteins for the 8-(2-CHLOROPHENYLAMINO)-2-(2,6-DIFLUOROPHENYLAMINO)-9-ETHYL-9H-PURINE-1,7-DIIUM drug from the curated DrugBank Drug Targets dataset.
6-(CYCLOHEXYLAMINO)-9-[2-(4-METHYLPIPERAZIN-1-YL)-ETHYL]-9H-PURINE-2-CARBONITRILE Gene Set From DrugBank Drug Targets interacting proteins for the 6-(CYCLOHEXYLAMINO)-9-[2-(4-METHYLPIPERAZIN-1-YL)-ETHYL]-9H-PURINE-2-CARBONITRILE drug from the curated DrugBank Drug Targets dataset.
Purine Riboside Gene Set From DrugBank Drug Targets interacting proteins for the Purine Riboside drug from the curated DrugBank Drug Targets dataset.
2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]Purine Gene Set From DrugBank Drug Targets interacting proteins for the 2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]Purine drug from the curated DrugBank Drug Targets dataset.
purine Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term purine in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
purine deoxyribonucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleotide catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleotide catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleobase salvage Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleobase salvage biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside bisphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
cyclic purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the cyclic purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleotide metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleotide metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
cellular response to purine-containing compound Gene Set From GO Biological Process Annotations 2015 genes participating in the cellular response to purine-containing compound biological process from the curated GO Biological Process Annotations 2015 dataset.
purine-containing compound salvage Gene Set From GO Biological Process Annotations 2015 genes participating in the purine-containing compound salvage biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleotide catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleotide catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine-containing compound transmembrane transport Gene Set From GO Biological Process Annotations 2015 genes participating in the purine-containing compound transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleotide salvage Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleotide salvage biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleotide transport Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleotide transport biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine-containing compound biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine-containing compound biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine-containing compound metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine-containing compound metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside salvage Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside salvage biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleobase catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleobase catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
response to purine-containing compound Gene Set From GO Biological Process Annotations 2015 genes participating in the response to purine-containing compound biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside bisphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleobase transport Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleobase transport biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleobase metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleobase metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleotide metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine ribonucleotide metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleotide transport Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleotide transport biological process from the curated GO Biological Process Annotations 2015 dataset.
purine deoxyribonucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine deoxyribonucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine-containing compound catabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine-containing compound catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine nucleobase biosynthetic process Gene Set From GO Biological Process Annotations 2015 genes participating in the purine nucleobase biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
purine ribonucleoside binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine ribonucleoside binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine ribonucleoside triphosphate binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine ribonucleoside triphosphate binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
oxidized purine nucleobase lesion dna n-glycosylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the oxidized purine nucleobase lesion dna n-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine nucleotide transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine nucleotide transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine deoxyribonucleotide binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine deoxyribonucleotide binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine nucleotide binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine nucleotide binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine ribonucleotide transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine ribonucleotide transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
poly-purine tract binding Gene Set From GO Molecular Function Annotations 2015 genes performing the poly-purine tract binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine nucleobase binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine nucleobase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine nucleobase transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine nucleobase transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine-specific mismatch base pair dna n-glycosylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine-specific mismatch base pair dna n-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine ribonucleotide binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine ribonucleotide binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
oxidized purine dna binding Gene Set From GO Molecular Function Annotations 2015 genes performing the oxidized purine dna binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine ntp-dependent helicase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the purine ntp-dependent helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
purine-rich negative regulatory element binding Gene Set From GO Molecular Function Annotations 2015 genes performing the purine-rich negative regulatory element binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
abnormality of purine metabolism Gene Set From GWASdb SNP-Phenotype Associations genes associated with the abnormality of purine metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
Purine Gene Set From HMDB Metabolites of Enzymes interacting proteins for the Purine metabolite from the curated HMDB Metabolites of Enzymes dataset.
increased purine levels Gene Set From HPO Gene-Disease Associations genes associated with the increased purine levels phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of purine metabolism Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of purine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
decreased purine levels Gene Set From HPO Gene-Disease Associations genes associated with the decreased purine levels phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease 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.
purine deoxyribonucleosides salvage Gene Set From HumanCyc Pathways proteins participating in the purine deoxyribonucleosides salvage pathway from the HumanCyc Pathways dataset.
superpathway of purine nucleotide salvage Gene Set From HumanCyc Pathways proteins participating in the superpathway of purine nucleotide salvage pathway from the HumanCyc Pathways dataset.
purine nucleotides degradation Gene Set From HumanCyc Pathways proteins participating in the purine nucleotides degradation pathway from the HumanCyc Pathways dataset.
purine deoxyribonucleosides degradation Gene Set From HumanCyc Pathways proteins participating in the purine deoxyribonucleosides degradation pathway from the HumanCyc Pathways dataset.
purine nucleotides de novo biosynthesis Gene Set From HumanCyc Pathways proteins participating in the purine nucleotides de novo biosynthesis pathway from the HumanCyc Pathways dataset.
purine ribonucleosides degradation to ribose-1-phosphate Gene Set From HumanCyc Pathways proteins participating in the purine ribonucleosides degradation to ribose-1-phosphate pathway from the HumanCyc Pathways dataset.
Purine-rich element binding protein family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Purine-rich element binding protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Non-canonical purine NTP phosphatase/PRRC1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Non-canonical purine NTP phosphatase/PRRC1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Purine 5'-nucleotidase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Purine 5'-nucleotidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
purine metabolism Gene Set From KEGG Pathways proteins participating in the purine metabolism pathway from the KEGG Pathways dataset.
BRD-K24632213_7-Benzyl-8-isopropylsulfanyl-3-methyl-3,7-dihydro-purine-2,6-dione_VCAP_24.0_h_10.0_um Gene Set From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the BRD-K24632213_7-Benzyl-8-isopropylsulfanyl-3-methyl-3,7-dihydro-purine-2,6-dione_VCAP_24.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
BRD-K59273480_3-methyl-1-(5-oxohexyl)-7-propyl-1H-purine-2,6(3H,7H)-dione HOC-1_A549_6.0_h_10.0_um Gene Set From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the BRD-K59273480_3-methyl-1-(5-oxohexyl)-7-propyl-1H-purine-2,6(3H,7H)-dione HOC-1_A549_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
BRD-K59273480_3-methyl-1-(5-oxohexyl)-7-propyl-1H-purine-2,6(3H,7H)-dione HOC-1_VCAP_6.0_h_10.0_um Gene Set From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the BRD-K59273480_3-methyl-1-(5-oxohexyl)-7-propyl-1H-purine-2,6(3H,7H)-dione HOC-1_VCAP_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
Purine metabolism Gene Set From PANTHER Pathways proteins participating in the Purine metabolism pathway from the PANTHER Pathways dataset.
De novo purine biosynthesis Gene Set From PANTHER Pathways proteins participating in the De novo purine biosynthesis pathway from the PANTHER Pathways dataset.
Purine ribonucleoside monophosphate biosynthesis Gene Set From Reactome Pathways 2014 proteins participating in the Purine ribonucleoside monophosphate biosynthesis pathway from the Reactome Pathways dataset.
Cleavage of the damaged purine Gene Set From Reactome Pathways 2014 proteins participating in the Cleavage of the damaged purine pathway from the Reactome Pathways dataset.
Recognition and association of DNA glycosylase with site containing an affected purine Gene Set From Reactome Pathways 2014 proteins participating in the Recognition and association of DNA glycosylase with site containing an affected purine pathway from the Reactome Pathways dataset.
Purine metabolism Gene Set From Reactome Pathways 2014 proteins participating in the Purine metabolism pathway from the Reactome Pathways dataset.
Purine catabolism Gene Set From Reactome Pathways 2014 proteins participating in the Purine catabolism pathway from the Reactome Pathways dataset.
Purine salvage Gene Set From Reactome Pathways 2014 proteins participating in the Purine salvage pathway from the Reactome Pathways dataset.
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set From Reactome Pathways 2014 proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.
Purine metabolism(Mus musculus) Gene Set From WikiPathways Pathways 2014 proteins participating in the Purine metabolism(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.
purine nucleobase transmembrane transport Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleobase transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleotide transport Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleotide transport biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleobase transport Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleobase transport biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
response to purine-containing compound Gene Set From GO Biological Process Annotations 2023 genes participating in the response to purine-containing compound biological process from the curated GO Biological Process Annotations 2023 dataset.
cellular response to purine-containing compound Gene Set From GO Biological Process Annotations 2023 genes participating in the cellular response to purine-containing compound biological process from the curated GO Biological Process Annotations 2023 dataset.
purine-containing compound salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the purine-containing compound salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleotide salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleotide salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleobase biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleobase biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleotide catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleotide catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleobase metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleobase metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
cyclic purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the cyclic purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleobase catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleobase catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleoside metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleoside metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine-containing compound metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine-containing compound metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleotide metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleotide metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside bisphosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleotide transport Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleotide transport biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside bisphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine-containing compound catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine-containing compound catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine-containing compound biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine-containing compound biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleoside catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleoside catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleotide catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleotide catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleobase salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the purine nucleobase salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleotide salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleotide salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleotide metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleotide metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleotide salvage Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleotide salvage biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine deoxyribonucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine deoxyribonucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine ribonucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2023 genes participating in the purine ribonucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
purine nucleobase transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine nucleobase transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine nucleotide transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine nucleotide transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
oxidized purine nucleobase lesion DNA N-glycosylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the oxidized purine nucleobase lesion DNA N-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
oxidized purine DNA binding Gene Set From GO Molecular Function Annotations 2023 genes performing the oxidized purine DNA binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine nucleobase binding Gene Set From GO Molecular Function Annotations 2023 genes performing the purine nucleobase binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine-specific mismatch base pair DNA N-glycosylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine-specific mismatch base pair DNA N-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine ribonucleotide binding Gene Set From GO Molecular Function Annotations 2023 genes performing the purine ribonucleotide binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine-rich negative regulatory element binding Gene Set From GO Molecular Function Annotations 2023 genes performing the purine-rich negative regulatory element binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine ribonucleoside triphosphate binding Gene Set From GO Molecular Function Annotations 2023 genes performing the purine ribonucleoside triphosphate binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine nucleotide binding Gene Set From GO Molecular Function Annotations 2023 genes performing the purine nucleotide binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
poly-purine tract binding Gene Set From GO Molecular Function Annotations 2023 genes performing the poly-purine tract binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine ribonucleotide transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine ribonucleotide transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine phosphoribosyltransferase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine phosphoribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
purine nucleotide-sugar transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2023 genes performing the purine nucleotide-sugar transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
Purine metabolism and related disorders Gene Set From WikiPathways Pathways 2024 proteins participating in the Purine metabolism and related disorders pathway from the WikiPathways Pathways 2024 dataset.
Purine metabolism Gene Set From WikiPathways Pathways 2024 proteins participating in the Purine metabolism pathway from the WikiPathways Pathways 2024 dataset.
Cleavage of the damaged purine Gene Set From Reactome Pathways 2024 proteins participating in the Cleavage of the damaged purine pathway from the Reactome Pathways 2024 dataset.
Purine catabolism Gene Set From Reactome Pathways 2024 proteins participating in the Purine catabolism pathway from the Reactome Pathways 2024 dataset.
Purine ribonucleoside monophosphate biosynthesis Gene Set From Reactome Pathways 2024 proteins participating in the Purine ribonucleoside monophosphate biosynthesis pathway from the Reactome Pathways 2024 dataset.
Purine salvage Gene Set From Reactome Pathways 2024 proteins participating in the Purine salvage pathway from the Reactome Pathways 2024 dataset.
Recognition and association of DNA glycosylase with site containing an affected purine Gene Set From Reactome Pathways 2024 proteins participating in the Recognition and association of DNA glycosylase with site containing an affected purine pathway from the Reactome Pathways 2024 dataset.
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set From Reactome Pathways 2024 proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.
purine nucleobase transmembrane transport Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleobase transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside monophosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside monophosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleotide transport Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleotide transport biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleobase transport Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleobase transport biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
response to purine-containing compound Gene Set From GO Biological Process Annotations 2025 genes participating in the response to purine-containing compound biological process from the curated GO Biological Process Annotations 2025 dataset.
purine-containing compound salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the purine-containing compound salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleotide salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleotide salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleobase biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleobase biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
cellular response to purine-containing compound Gene Set From GO Biological Process Annotations 2025 genes participating in the cellular response to purine-containing compound biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleotide catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleotide catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleobase metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleobase metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
cyclic purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the cyclic purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleobase catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleobase catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleoside metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleoside metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleotide import into lysosome Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleotide import into lysosome biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine-containing compound catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine-containing compound catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine-containing compound biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine-containing compound biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleotide metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleotide metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside triphosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside triphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside bisphosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleotide transport Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleotide transport biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside bisphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of purine nucleotide catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleoside catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleoside catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleotide catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleotide catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleoside monophosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleoside monophosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleobase salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleobase salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleotide salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleotide salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside triphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside triphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of purine nucleotide metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleotide metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleotide metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleoside monophosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleoside monophosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleotide salvage Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleotide salvage biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside diphosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside diphosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of purine nucleotide biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside diphosphate metabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside diphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine deoxyribonucleoside triphosphate catabolic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine deoxyribonucleoside triphosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine ribonucleoside diphosphate biosynthetic process Gene Set From GO Biological Process Annotations 2025 genes participating in the purine ribonucleoside diphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleotide-sugar transmembrane transport Gene Set From GO Biological Process Annotations 2025 genes participating in the purine nucleotide-sugar transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.
purine nucleobase transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleobase transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine nucleotide transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleotide transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
oxidized purine nucleobase lesion DNA N-glycosylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the oxidized purine nucleobase lesion DNA N-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
oxidized purine DNA binding Gene Set From GO Molecular Function Annotations 2025 genes performing the oxidized purine DNA binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine nucleobase binding Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleobase binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine-specific mismatch base pair DNA N-glycosylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine-specific mismatch base pair DNA N-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine ribonucleotide binding Gene Set From GO Molecular Function Annotations 2025 genes performing the purine ribonucleotide binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine-rich negative regulatory element binding Gene Set From GO Molecular Function Annotations 2025 genes performing the purine-rich negative regulatory element binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine nucleotide binding Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleotide binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine nucleotide uniporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleotide uniporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
poly-purine tract binding Gene Set From GO Molecular Function Annotations 2025 genes performing the poly-purine tract binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine ribonucleotide transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine ribonucleotide transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine phosphoribosyltransferase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine phosphoribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine nucleotide-sugar transmembrane transporter activity Gene Set From GO Molecular Function Annotations 2025 genes performing the purine nucleotide-sugar transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
purine-pyrimidine metabolic disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease purine-pyrimidine metabolic disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
purine-pyrimidine metabolic disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease purine-pyrimidine metabolic disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Purine metabolism Gene Set From KEGG Pathways 2026 proteins participating in the Purine metabolism pathway from the KEGG Pathways 2026 dataset.
PURINE ANTAGONIST Gene Set From DGIdb Drug Targets 2026 interacting proteins for the PURINE ANTAGONIST drug from theDGIdb Drug Targets 2026 dataset.
Congenital human immunodeficiency virus Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set From ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked severe combined immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Common variable immunodeficiency 8, with autoimmunity Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 8, with autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hepatic venoocclusive disease with immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hepatic venoocclusive disease with immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Absent corpus callosum cataract immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Absent corpus callosum cataract immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency with hyper IgM type 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency with hyper IgM type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency with hyper IgM type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency with hyper IgM type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
IL21R immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the IL21R immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neutrophil immunodeficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Growth hormone insensitivity with immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth hormone insensitivity with immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined immunodeficiency, X-linked Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined immunodeficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, atypical Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 31C Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 31C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 31a Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 31a phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 27b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 27b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 24 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 23 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 22 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 20 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 29 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 28 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 30 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 38 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
CARD11 immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the CARD11 immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, normal intelligence and immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 26 with or without neurologic abnormalities Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 26 with or without neurologic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Common variable immunodeficiency 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Common variable immunodeficiency 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Common variable immunodeficiency 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Common variable immunodeficiency 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 18 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 19 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.
Common Variable Immunodeficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Common Variable Immunodeficiency from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.
Hepatic venoocclusive disease with immunodeficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic venoocclusive disease with immunodeficiency from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency without anhidrotic ectodermal dysplasia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset.
Absent corpus callosum cataract immunodeficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Absent corpus callosum cataract immunodeficiency from the curated CTD Gene-Disease Associations dataset.
Neutrophil Immunodeficiency Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neutrophil Immunodeficiency Syndrome from the curated CTD Gene-Disease Associations dataset.
Hyper-IgM Immunodeficiency Syndrome, Type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyper-IgM Immunodeficiency Syndrome, Type 1 from the curated CTD Gene-Disease Associations dataset.
T cell immunodeficiency primary Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease T cell immunodeficiency primary from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.
Acquired Immunodeficiency Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Acquired Immunodeficiency Syndrome from the curated CTD Gene-Disease Associations dataset.
X-Linked Combined Immunodeficiency Diseases Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease X-Linked Combined Immunodeficiency Diseases from the curated CTD Gene-Disease Associations dataset.
Hyper-IgM Immunodeficiency Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyper-IgM Immunodeficiency Syndrome from the curated CTD Gene-Disease Associations dataset.
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset.
Acquired Immunodeficiency Syndrome Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Acquired Immunodeficiency Syndrome in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
severe combined immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
common variable immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease common variable immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
primary immunodeficiency disease Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease primary immunodeficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
combined t cell and b cell immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
primary immunodeficiency disease Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease primary immunodeficiency disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
acquired immunodeficiency syndrome Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease acquired immunodeficiency syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
human immunodeficiency virus infectious disease Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease human immunodeficiency virus infectious disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
common variable immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease common variable immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
primary immunodeficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary immunodeficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
severe combined immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
acquired immunodeficiency syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acquired immunodeficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
human immunodeficiency virus infectious disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease human immunodeficiency virus infectious disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
combined t cell and b cell immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
carcinoma, squamous cell; conjunctival neoplasms; hiv infections; squamous cell carcinoma; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; conjunctival neoplasms; hiv infections; squamous cell carcinoma; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; hiv seropositivity; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; hiv seropositivity; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; hiv seropositivity; papillomavirus infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; hiv seropositivity; papillomavirus infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
diabetes mellitus; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; cardiovascular diseases Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; cardiovascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; pregnancy complications, infectious; viremia; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; pregnancy complications, infectious; viremia; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
neutrophil immunodeficiency syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease neutrophil immunodeficiency syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; viremia; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; viremia; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatitis b; hepatitis c; hiv infections; porphyria cutanea tarda; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatitis b; hepatitis c; hiv infections; porphyria cutanea tarda; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; tuberculosis; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; tuberculosis; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; hyperbilirubinemia; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; hyperbilirubinemia; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dyslipidemias; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease dyslipidemias; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
drug hypersensitivity; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease drug hypersensitivity; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common variable immunodeficiency; hemochromatosis Gene Set From GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
aids-related opportunistic infections; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease aids-related opportunistic infections; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; substance abuse, intravenous; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; substance abuse, intravenous; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; hiv-associated lipodystrophy syndrome; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; hiv-associated lipodystrophy syndrome; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common variable immunodeficiency; lung diseases Gene Set From GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; lung diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; hiv infections Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; disease progression Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
lymphopenia; scid; severe combined immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome; substance abuse, intravenous Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; substance abuse, intravenous in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
bronchiectasis; common variable immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease bronchiectasis; common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatitis c, chronic; hiv infections; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatitis c, chronic; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common variable immunodeficiency; crohn disease; crohn's disease Gene Set From GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acquired immunodeficiency syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common variable immunodeficiency; lymphoproliferative disorders Gene Set From GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; lymphoproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common variable immunodeficiency; respiratory tract infections Gene Set From GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hiv infections; lipodystrophy; [x]human immunodeficiency virus disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hiv infections; lipodystrophy; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
x-linked severe combined immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Harmonizome 3.0

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

Purine-nucleoside phosphorylase deficiency Gene Set

Purine Nucleoside Phosphorylase Deficiency Gene Set

purine nucleoside phosphorylase deficiency Gene Set

purine nucleoside phosphorylase deficiency Gene Set

Purine-Nucleoside Phosphorylase Deficiency Gene Set

Purine nucleoside phosphorylase deficiency Gene Set

Purine nucleoside phosphorylase deficiency Gene Set

Purine-nucleoside phosphorylase deficiency Gene Set

purine-nucleoside phosphorylase activity Gene Set

Purine nucleoside phosphorylase I, inosine/guanosine-specific Gene Set

Purine nucleoside phosphorylase Gene Set

decreased purine-nucleoside phosphorylase activity Gene Set

abnormal purine-nucleoside phosphorylase activity Gene Set

purine-nucleoside phosphorylase activity Gene Set

decreased purine-nucleoside phosphorylase activity Gene Set

purine-nucleoside phosphorylase activity Gene Set

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

pyrimidine-nucleoside phosphorylase activity Gene Set

Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic Gene Set

Thymidine/pyrimidine-nucleoside phosphorylase Gene Set

Pyrimidine-nucleoside phosphorylase, conserved site Gene Set

Nucleoside phosphorylase domain Gene Set

Nucleoside phosphorylase, conserved site Gene Set

Nucleoside phosphorylase Gene Set

Pyrimidine nucleoside phosphorylase, C-terminal Gene Set

pyrimidine-nucleoside phosphorylase activity Gene Set

Purine phosphorylase, family 2, conserved site Gene Set

Severe combined immunodeficiency due to ADA deficiency Gene Set

Immunodeficiency due to ficolin 3 deficiency Gene Set

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

severe combined immunodeficiency due to il2 deficiency Gene Set

severe combined immunodeficiency due to ada deficiency Gene Set

immunodeficiency due to ficolin 3 deficiency Gene Set

Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

Immunodeficiency due to ficolin3 deficiency Gene Set

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

Combined immunodeficiency due to CD3gamma deficiency Gene Set

Combined immunodeficiency due to partial RAG1 deficiency Gene Set

Combined immunodeficiency due to ZAP70 deficiency Gene Set

Combined immunodeficiency due to LRBA deficiency Gene Set

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

Combined immunodeficiency due to STK4 deficiency Gene Set

Combined immunodeficiency due to STIM1 deficiency Gene Set

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

Combined immunodeficiency due to DOCK8 deficiency Gene Set

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

Combined immunodeficiency due to ORAI1 deficiency Gene Set

Immunodeficiency due to CD25 deficiency Gene Set

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

Immunodeficiency due to MASP-2 deficiency Gene Set

Combined immunodeficiency due to moesin deficiency Gene Set

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

Combined immunodeficiency due to OX40 deficiency Gene Set

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

Combined immunodeficiency due to MALT1 deficiency Gene Set

Severe combined immunodeficiency due to LCK deficiency Gene Set

Immunodeficiency due to a late component of complement deficiency Gene Set

Primary immunodeficiency syndrome due to p14 deficiency Gene Set

Severe combined immunodeficiency due to LAT deficiency Gene Set

Combined immunodeficiency due to GINS1 deficiency Gene Set

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

6-Hydroxy-7,8-Dihydro Purine Nucleoside Gene Set

6-Hydroxy-1,6-Dihydro Purine Nucleoside Gene Set

purine nucleoside biosynthetic process Gene Set

purine nucleoside triphosphate catabolic process Gene Set

purine nucleoside bisphosphate catabolic process Gene Set

purine nucleoside monophosphate biosynthetic process Gene Set

purine nucleoside diphosphate catabolic process Gene Set

purine nucleoside triphosphate metabolic process Gene Set

purine nucleoside triphosphate biosynthetic process Gene Set

purine nucleoside metabolic process Gene Set

purine nucleoside diphosphate biosynthetic process Gene Set

purine nucleoside catabolic process Gene Set

purine nucleoside bisphosphate biosynthetic process Gene Set

purine nucleoside monophosphate metabolic process Gene Set