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Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene SetFrom 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. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom 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. |
Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
?mitochondrial complex (atp synthase) deficiency, nuclear type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex (atp synthase) deficiency, nuclear type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex v (atp synthase) deficiency, nuclear type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex v (atp synthase) deficiency, nuclear type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex v (atp synthase) deficiency, nuclear type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex v (atp synthase) deficiency, nuclear type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex V (ATP synthase) deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex V (ATP synthase) deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial proton-transporting ATP synthase complex deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial proton-transporting ATP synthase complex deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
fatal infantile encephalocardiomyopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fatal infantile encephalocardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
encephalitis; glucosephosphate dehydrogenase deficiency; jaundice, neonatal; neonatal jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease encephalitis; glucosephosphate dehydrogenase deficiency; jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucosephosphate dehydrogenase deficiency; hemolysis; jaundice, neonatal; neonatal jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucosephosphate dehydrogenase deficiency; hemolysis; jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mitochondrial proton-transporting atp synthase complex, catalytic core f(1) Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial proton-transporting atp synthase complex, catalytic core f(1) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial proton-transporting atp synthase complex, coupling factor f(o) Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial proton-transporting atp synthase complex, coupling factor f(o) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial proton-transporting atp synthase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial proton-transporting atp synthase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial proton-transporting atp synthase, catalytic core Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial proton-transporting atp synthase, catalytic core cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial proton-transporting atp synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial proton-transporting atp synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
F1F0-ATP synthase (EC 3.6.3.14), mitochondrial Gene Setproteins in the F1F0-ATP synthase (EC 3.6.3.14), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
mitochondrial proton-transporting atp synthase complex assembly Gene SetFrom GO Biological Process Annotations 2015 genes participating in the mitochondrial proton-transporting atp synthase complex assembly biological process from the curated GO Biological Process Annotations 2015 dataset. |
mitochondrial proton-transporting atp synthase complex, catalytic core f(1) Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the mitochondrial proton-transporting atp synthase complex, catalytic core f(1) cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
mitochondrial proton-transporting atp synthase complex, coupling factor f(o) Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the mitochondrial proton-transporting atp synthase complex, coupling factor f(o) cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
mitochondrial proton-transporting atp synthase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the mitochondrial proton-transporting atp synthase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
mitochondrial proton-transporting atp synthase, catalytic core Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the mitochondrial proton-transporting atp synthase, catalytic core cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
decreased activity of mitochondrial atp synthase complex Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased activity of mitochondrial atp synthase complex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Mitochondrial ATP synthase subunit g, animal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial ATP synthase subunit g, animal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Mitochondrial F1-F0 ATP synthase subunit F, predicted Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial F1-F0 ATP synthase subunit F, predicted protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP synthase subunit s, mitochondrial Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP synthase subunit s, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Decreased Activity Of Mitochondrial Atp Synthase Complex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Activity Of Mitochondrial Atp Synthase Complex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
mitochondrial proton-transporting ATP synthase complex assembly Gene SetFrom GO Biological Process Annotations 2023 genes participating in the mitochondrial proton-transporting ATP synthase complex assembly biological process from the curated GO Biological Process Annotations 2023 dataset. |
mitochondrial proton-transporting ATP synthase complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the mitochondrial proton-transporting ATP synthase complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
mitochondrial proton-transporting ATP synthase, catalytic core Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the mitochondrial proton-transporting ATP synthase, catalytic core cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
mitochondrial proton-transporting ATP synthase, stator stalk Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the mitochondrial proton-transporting ATP synthase, stator stalk cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
mitochondrial proton-transporting ATP synthase complex assembly Gene SetFrom GO Biological Process Annotations 2025 genes participating in the mitochondrial proton-transporting ATP synthase complex assembly biological process from the curated GO Biological Process Annotations 2025 dataset. |
Mitochondrial proton-transporting ATP synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial proton-transporting ATP synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Mitochondrial proton-transporting ATP synthase, stator stalk Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial proton-transporting ATP synthase, stator stalk cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Mitochondrial proton-transporting ATP synthase, catalytic core Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial proton-transporting ATP synthase, catalytic core cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom 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. |
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene SetFrom 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. |
Neonatal intrahepatic cholestasis due to citrin deficiency Gene SetFrom 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. |
Isolated Atp Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Isolated Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atp Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene SetFrom 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. |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene SetFrom 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. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom 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. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom 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. |
leigh syndrome due to mitochondrial complex i deficiency Gene SetFrom 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. |
leigh syndrome due to mitochondrial cox4 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial complex 1 deficiency Gene SetFrom 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. |
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene SetFrom 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. |
Leigh syndrome due to mitochondrial complex IV deficiency Gene SetFrom 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. |
jaundice, neonatal; neonatal jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
K Atp Permanent Neonatal Diabetes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease K Atp Permanent Neonatal Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom 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. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
proton-transporting atp synthase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the proton-transporting atp synthase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
proton-transporting atp synthase, catalytic core Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the proton-transporting atp synthase, catalytic core cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
proton-transporting atp synthase complex, catalytic core f(1) Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the proton-transporting atp synthase complex, catalytic core f(1) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
proton-transporting atp synthase complex, coupling factor f(o) Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the proton-transporting atp synthase complex, coupling factor f(o) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
proton-transporting atp synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the proton-transporting atp synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
chloroplast atp synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the chloroplast atp synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
proton-transporting atp synthase complex, catalytic core f(1) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the proton-transporting atp synthase complex, catalytic core f(1) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
proton-transporting atp synthase complex, coupling factor f(o) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the proton-transporting atp synthase complex, coupling factor f(o) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
regulation of atp citrate synthase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of atp citrate synthase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
proton-transporting atp synthase complex assembly Gene SetFrom GO Biological Process Annotations 2015 genes participating in the proton-transporting atp synthase complex assembly biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of atp citrate synthase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of atp citrate synthase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
proton-transporting atp synthase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the proton-transporting atp synthase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
proton-transporting atp synthase, catalytic core Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the proton-transporting atp synthase, catalytic core cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
proton-transporting atp synthase complex, catalytic core f(1) Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the proton-transporting atp synthase complex, catalytic core f(1) cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
proton-transporting atp synthase complex, coupling factor f(o) Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the proton-transporting atp synthase complex, coupling factor f(o) cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
proton-transporting atp synthase activity, rotational mechanism Gene SetFrom GO Molecular Function Annotations 2015 genes performing the proton-transporting atp synthase activity, rotational mechanism molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp citrate synthase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp citrate synthase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ATP synthase subunit s-like protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP synthase subunit s-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
V-type ATP synthase regulatory subunit B/beta Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the V-type ATP synthase regulatory subunit B/beta protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP synthase subunit alpha-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP synthase subunit alpha-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
F1F0 ATP synthase OSCP/delta subunit, N-terminal domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the F1F0 ATP synthase OSCP/delta subunit, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
V-type ATP synthase catalytic alpha chain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the V-type ATP synthase catalytic alpha chain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-citrate synthase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-citrate synthase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
positive regulation of proton-transporting ATP synthase activity, rotational mechanism Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of proton-transporting ATP synthase activity, rotational mechanism biological process from the curated GO Biological Process Annotations 2023 dataset. |
proton-transporting ATP synthase complex assembly Gene SetFrom GO Biological Process Annotations 2023 genes participating in the proton-transporting ATP synthase complex assembly biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of ATP citrate synthase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of ATP citrate synthase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of proton-transporting ATP synthase activity, rotational mechanism Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of proton-transporting ATP synthase activity, rotational mechanism biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of ATP citrate synthase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of ATP citrate synthase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
proton-transporting ATP synthase complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the proton-transporting ATP synthase complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
ATP citrate synthase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ATP citrate synthase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
positive regulation of proton-transporting ATP synthase activity, rotational mechanism Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of proton-transporting ATP synthase activity, rotational mechanism biological process from the curated GO Biological Process Annotations 2025 dataset. |
proton-transporting ATP synthase complex assembly Gene SetFrom GO Biological Process Annotations 2025 genes participating in the proton-transporting ATP synthase complex assembly biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of ATP citrate synthase activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of ATP citrate synthase activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of ATP citrate synthase activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of ATP citrate synthase activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
ATP citrate synthase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ATP citrate synthase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
proton-transporting ATP synthase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the proton-transporting ATP synthase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase complex, catalytic core F(1) Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the proton-transporting ATP synthase complex, catalytic core F(1) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase, catalytic core Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the proton-transporting ATP synthase, catalytic core cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase complex, coupling factor F(o) Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the proton-transporting ATP synthase complex, coupling factor F(o) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the proton-transporting ATP synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Chloroplast ATP synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Chloroplast ATP synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Plasma membrane proton-transporting ATP synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Plasma membrane proton-transporting ATP synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase, stator stalk Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the proton-transporting ATP synthase, stator stalk cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase complex, coupling factor F(o) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the proton-transporting ATP synthase complex, coupling factor F(o) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase, catalytic core Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the proton-transporting ATP synthase, catalytic core cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Plasma membrane proton-transporting ATP synthase complex, catalytic core F(1) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Plasma membrane proton-transporting ATP synthase complex, catalytic core F(1) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
proton-transporting ATP synthase complex, catalytic core F(1) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the proton-transporting ATP synthase complex, catalytic core F(1) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene SetFrom 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. |
Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
mitochondrial atp synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the mitochondrial atp synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
mitochondrial atp synthesis coupled proton transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the mitochondrial atp synthesis coupled proton transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
abnormal mitochondrial atp synthesis coupled electron transport Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal mitochondrial atp synthesis coupled electron transport phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
proton motive force-driven mitochondrial ATP synthesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the proton motive force-driven mitochondrial ATP synthesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
mitochondrial ATP transmembrane transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the mitochondrial ATP transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of mitochondrial ATP synthesis coupled proton transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of mitochondrial ATP synthesis coupled proton transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
mitochondrial ATP-gated potassium channel complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the mitochondrial ATP-gated potassium channel complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
mitochondrial ATP-gated potassium channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the mitochondrial ATP-gated potassium channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
abnormal mitochondrial ATP synthesis coupled electron transport Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal mitochondrial ATP synthesis coupled electron transport phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
proton motive force-driven mitochondrial ATP synthesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the proton motive force-driven mitochondrial ATP synthesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
mitochondrial ATP transmembrane transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the mitochondrial ATP transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of mitochondrial ATP synthesis coupled proton transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of mitochondrial ATP synthesis coupled proton transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of mitochondrial ATP synthesis coupled proton transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of mitochondrial ATP synthesis coupled proton transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of mitochondrial ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of mitochondrial ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
mitochondrial ATP-gated potassium channel complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the mitochondrial ATP-gated potassium channel complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
mitochondrial ATP-gated potassium channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the mitochondrial ATP-gated potassium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Mitochondrial ATP-gated potassium channel complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Mitochondrial ATP-gated potassium channel complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Mitochondrial ATP-gated potassium channel complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial ATP-gated potassium channel complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom 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 SetFrom 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 SetFrom 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. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal intrahepatic cholestasis caused by citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset. |
glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cpt ii deficiency, lethal neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the cpt ii deficiency, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
zinc deficiency, transient neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the zinc deficiency, transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia due to adenosine kinase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom 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. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein s deficiency, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to glutathione peroxidase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein c deficiency, autosomal dominant Gene SetFrom 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 SetFrom 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. |
cirrhosis due to liver phosphorylase kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease due to deficiency of ncf-2 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to ficolin 3 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene SetFrom 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. |
hemolytic anemia due to triosephosphate isomerase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene SetFrom 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 Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Developmental And Speech Delay Due To Sox5 Deficiency Gene SetFrom 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. |
Osteomalacia Due To Vitamin D Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone secretagogue receptor deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom 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. |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Combined immunodeficiency due to CD3gamma deficiency Gene SetFrom 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. |
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene SetFrom 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. |
Combined immunodeficiency due to partial RAG1 deficiency Gene SetFrom 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 SetFrom 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. |
Thrombophilia due to protein S deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to GLUT1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Combined immunodeficiency due to LRBA deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom 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. |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene SetFrom 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 SetFrom 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. |
Combined immunodeficiency due to DOCK8 deficiency Gene SetFrom 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. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephalic primordial dwarfism due to RTTN deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom 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. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom 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. |
Combined immunodeficiency due to ORAI1 deficiency Gene SetFrom 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. |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to CD25 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to CD25 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom 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. |
Growth delay due to insulin-like growth factor deficiency Gene SetFrom 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. |
Immunodeficiency due to MASP-2 deficiency Gene SetFrom 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. |
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Combined immunodeficiency due to moesin deficiency Gene SetFrom 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. |
Hemolytic anemia due to adenylate kinase deficiency Gene SetFrom 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. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom 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. |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene SetFrom 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. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom 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. |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene SetFrom 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. |
Combined immunodeficiency due to OX40 deficiency Gene SetFrom 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 SetFrom 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. |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Combined immunodeficiency due to MALT1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Recurrent Neisseria infections due to factor D deficiency Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary immunodeficiency syndrome due to p14 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Neurometabolic disorder due to serine deficiency Gene SetFrom 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. |
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom 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. |
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene SetFrom 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 SetFrom 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. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porphobilinogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
hyperhomocystinemia; cystathionine beta-synthase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocystinemia; cystathionine beta-synthase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
?thromboxane synthase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?thromboxane synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukotriene c4 synthase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukotriene c4 synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hmg-coa synthase-2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hmg-coa synthase-2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
n-acetylglutamate synthase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the n-acetylglutamate synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Porphobilinogen Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Porphobilinogen Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carbamoyl Phosphate Synthase 1 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carbamoyl Phosphate Synthase 1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glycogen Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glycogen Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Aldosterone Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Aldosterone Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Squalene Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Squalene Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Uroporphyrinogen Iii Synthase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Uroporphyrinogen Iii Synthase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydroxymethylbilane Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydroxymethylbilane Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Leukotriene C4 Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Leukotriene C4 Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Citrate(Si)-Synthase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Citrate(Si)-Synthase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
N-acetylglutamate synthase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease N-acetylglutamate synthase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
N-acetylglutamate synthase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease N-acetylglutamate synthase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
HMG-CoA synthase 2 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease HMG-CoA synthase 2 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GM3 synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GM3 synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Porphobilinogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Squalene synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Squalene synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial phosphate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset. |
mitochondrial complex iv deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex iv deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
complex i, mitochondrial respiratory chain, deficiency of Gene SetFrom OMIM Gene-Disease Associations genes associated with the complex i, mitochondrial respiratory chain, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mitochondrial complex i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial pyruvate carrier deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial pyruvate carrier deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial respiratory chain complex ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial respiratory chain complex ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial phosphate carrier deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial phosphate carrier deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mitochondrial complex iii deficiency, nuclear type 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex iii deficiency, nuclear type 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mitochondrial complex iii deficiency, nuclear type 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex iii deficiency, nuclear type 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mitochondrial complex iii deficiency, nuclear type 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex iii deficiency, nuclear type 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mitochondrial complex iii deficiency, nuclear type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex iii deficiency, nuclear type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mitochondrial complex iv deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mitochondrial complex iv deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pepck deficiency, mitochondrial Gene SetFrom OMIM Gene-Disease Associations genes associated with the pepck deficiency, mitochondrial phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex iii deficiency, nuclear type 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex iii deficiency, nuclear type 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex iii deficiency, nuclear type 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex iii deficiency, nuclear type 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex iii deficiency, nuclear type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex iii deficiency, nuclear type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex iii deficiency, nuclear type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex iii deficiency, nuclear type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex iii deficiency, nuclear type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex iii deficiency, nuclear type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial complex 1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mitochondrial Complex I Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Complex V Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Complex V Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Complex Iii Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Complex Iii Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Enzyme Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Complex Ii Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Complex Ii Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Pyruvate Carrier Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Pyruvate Carrier Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Phosphate Carrier Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Complex Iv Deficiency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mitochondrial Complex Iv Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mitochondrial Complex I Deficiency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 Gene Setproteins participating in the Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 pathway from the Reactome Pathways 2024 dataset. |
Mitochondrial complex I deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial complex I deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mitochondrial complex III deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial complex III deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial trifunctional protein deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency 20 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nuclear type mitochondrial complex I deficiency 20 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nuclear type mitochondrial complex I deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
COX deficiency, infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nuclear type mitochondrial complex I deficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nuclear type mitochondrial complex I deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex I deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex I deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex II deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex II deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex III deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex III deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, benign infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex IV deficiency nuclear type 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex IV deficiency nuclear type 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial trifunctional protein deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency 20 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nuclear type mitochondrial complex I deficiency 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial pyruvate carrier deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex III deficiency nuclear type 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex III deficiency nuclear type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency 33 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nuclear type mitochondrial complex I deficiency 33 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nuclear type mitochondrial complex I deficiency 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex III deficiency nuclear type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex III deficiency nuclear type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex IV deficiency nuclear type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex IV deficiency nuclear type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex IV deficiency nuclear type 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex IV deficiency nuclear type 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex IV deficiency nuclear type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial complex IV deficiency nuclear type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nuclear type mitochondrial complex I deficiency 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nuclear type mitochondrial complex I deficiency 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial complex III deficiency nuclear Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial complex III deficiency nuclear phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial complex IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial complex 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial complex 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial complex III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Transient neonatal diabetes mellitus 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Transient neonatal diabetes mellitus 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal-infantile seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal insulin-dependent diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal insulin-dependent diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus, permanent neonatal, with neurologic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus, permanent neonatal, with neurologic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal adrenoleucodystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal adrenoleucodystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Permanent neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Permanent neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus, permanent neonatal, with cerebellar agenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus, permanent neonatal, with cerebellar agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cyanosis, transient neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cyanosis, transient neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Neonatal-onset citrullinemia type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neonatal-onset citrullinemia type 2 from the curated CTD Gene-Disease Associations dataset. |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Jaundice, Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jaundice, Neonatal from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 2 from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Transient Neonatal, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 3 from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Transient Neonatal, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 1 from the curated CTD Gene-Disease Associations dataset. |
Finnish lethal neonatal metabolic syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Finnish lethal neonatal metabolic syndrome from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Transient Neonatal, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 2 from the curated CTD Gene-Disease Associations dataset. |
Pancreatic beta cell agenesis with neonatal diabetes mellitus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pancreatic beta cell agenesis with neonatal diabetes mellitus from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
Hyperbilirubinemia, Transient Familial Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperbilirubinemia, Transient Familial Neonatal from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Permanent Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Permanent Neonatal from the curated CTD Gene-Disease Associations dataset. |
Neonatal Abstinence Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neonatal Abstinence Syndrome from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Benign Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Benign Neonatal from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Benign Neonatal, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Benign Neonatal, 3 from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 1 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Neonatal from the curated CTD Gene-Disease Associations dataset. |
Thrombocytopenia, Neonatal Alloimmune Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombocytopenia, Neonatal Alloimmune from the curated CTD Gene-Disease Associations dataset. |
neonatal period electroclinical syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease neonatal period electroclinical syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
neonatal candidiasis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal candidiasis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign neonatal seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign neonatal seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal leukemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal leukemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal diabetes mellitus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal diabetes mellitus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
transient neonatal neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease transient neonatal neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal jaundice Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal jaundice in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal period electroclinical syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal period electroclinical syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign familial neonatal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial neonatal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal thyrotoxicosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal thyrotoxicosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal abstinence syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal abstinence syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal myasthenia gravis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal myasthenia gravis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal respiratory failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal respiratory failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
transient neonatal thrombocytopenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease transient neonatal thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
birth weight; hyperbilirubinemia, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperbilirubinemia, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal thrombocytopenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal thrombocytopenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
respiratory distress syndrome, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
citrullinemia, adult-onset type ii; hepatitis, neonatal associated with cholestasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease citrullinemia, adult-onset type ii; hepatitis, neonatal associated with cholestasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal hyperbilirubinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal hyperbilirubinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperbilirubinemia, neonatal; jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperbilirubinemia, neonatal; jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cutaneous neonatal lupus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cutaneous neonatal lupus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jaundice, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jaundice, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute neonatal disease and hyperammonemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute neonatal disease and hyperammonemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term neonatal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
KDM4C_natural variation_GSE41040_589_human_fibroblasts fron neonatal foreskin Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the KDM4C_natural variation_GSE41040_589_human_fibroblasts fron neonatal foreskin gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
KDM4C_natural variation_GSE41040_588_human_fibroblasts fron neonatal foreskin Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the KDM4C_natural variation_GSE41040_588_human_fibroblasts fron neonatal foreskin gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
KDM4C_natural variation_GSE41040_590_human_fibroblasts fron neonatal foreskin Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the KDM4C_natural variation_GSE41040_590_human_fibroblasts fron neonatal foreskin gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
Neonatal lupus Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Neonatal lupus phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
neonatal unconjugated hyperbilirubinemia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal unconjugated hyperbilirubinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal hyperbilirubinemia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal hyperbilirubinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal breathing dysregulation Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal breathing dysregulation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal alloimmune thrombocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal alloimmune thrombocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal epiphyseal stippling Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal epiphyseal stippling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal short-trunk short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal death Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal death phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal insulin-dependent diabetes mellitus Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal insulin-dependent diabetes mellitus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal wrinkled skin of hands and feet Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal wrinkled skin of hands and feet phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized neonatal hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized neonatal hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spontaneous neonatal pneumothorax Gene SetFrom HPO Gene-Disease Associations genes associated with the spontaneous neonatal pneumothorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal respiratory distress Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal respiratory distress phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
transient neonatal diabetes mellitus Gene SetFrom HPO Gene-Disease Associations genes associated with the transient neonatal diabetes mellitus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
prolonged neonatal jaundice Gene SetFrom HPO Gene-Disease Associations genes associated with the prolonged neonatal jaundice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal hypoglycemia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal hypoglycemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal onset Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Neonatal Abstinence Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Neonatal Abstinence Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Jaundice, Neonatal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Jaundice, Neonatal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Benign Neonatal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Benign Neonatal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Hyperbilirubinemia, Neonatal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hyperbilirubinemia, Neonatal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Thrombocytopenia, Neonatal Alloimmune Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Thrombocytopenia, Neonatal Alloimmune phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
partial neonatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the partial neonatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
complete neonatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the complete neonatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
neonatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the neonatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
diabetes mellitus, neonatal, with congenital hypothyroidism Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, neonatal, with congenital hypothyroidism phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign neonatal, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperparathyroidism, neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperparathyroidism, neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
?diabetes mellitus, insulin-dependent, neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?diabetes mellitus, insulin-dependent, neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, transient neonatal 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, transient neonatal 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign neonatal, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign neonatal, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inflammatory skin and bowel disease, neonatal, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inflammatory skin and bowel disease, neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, neonatal hemolytic, fatal and near-fatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, neonatal hemolytic, fatal and near-fatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombocytopenia, neonatal alloimmune Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, neonatal alloimmune phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, permanent neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, permanent neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperbilirubinemia, familial transient neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperbilirubinemia, familial transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia gravis, neonatal transient Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia gravis, neonatal transient phenotype from the curated OMIM Gene-Disease Associations dataset. |
{diabetes mellitus, transient neonatal} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {diabetes mellitus, transient neonatal} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, neonatal alloimmune Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, neonatal alloimmune phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombocytopenia, neonatal alloimmune, bak antigen related Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, neonatal alloimmune, bak antigen related phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, transient neonatal, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, transient neonatal, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, transient neonatal, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, transient neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes, permanent neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes, permanent neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
citrullinemia, type ii, neonatal-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the citrullinemia, type ii, neonatal-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, permanent neonatal, with neurologic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, permanent neonatal, with neurologic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
choreoathetosis, hypothyroidism, and neonatal respiratory distress Gene SetFrom OMIM Gene-Disease Associations genes associated with the choreoathetosis, hypothyroidism, and neonatal respiratory distress phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypertrypsinemia, neonatal} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypertrypsinemia, neonatal} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, alloimmune neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, alloimmune neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
{pulmonary hypertension, neonatal, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {pulmonary hypertension, neonatal, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
cyanosis, transient neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the cyanosis, transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
neonatal Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term neonatal in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Neonatal Hypotonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Respiratory Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyperbilirubinemia, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperbilirubinemia, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Abstinence Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Abstinence Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hepatitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hepatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental Delay, Epilepsy, And Neonatal Diabetes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental Delay, Epilepsy, And Neonatal Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hypoglycemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypoglycemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adrenoleukodystrophy, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adrenoleukodystrophy, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Alloimmune Thrombocytopenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Alloimmune Thrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sclerosing Cholangitis, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sclerosing Cholangitis, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Herpes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Herpes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Stroke Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Stroke in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Opiate Withdrawal Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Opiate Withdrawal Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Deformity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Deformity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Inflammatory Skin And Bowel Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Inflammatory Skin And Bowel Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Citrullinemia, Type Ii, Neonatal-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Citrullinemia, Type Ii, Neonatal-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hemochromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hemochromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Benign Neonatal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Benign Neonatal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hypocalcemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypocalcemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Pneumonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Pneumonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Systemic Lupus Erythematosus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Systemic Lupus Erythematosus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hyperparathyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hyperparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Chlamydial Conjunctivitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Chlamydial Conjunctivitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Early-Onset Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Early-Onset Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alloimmune Neonatal Neutropenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alloimmune Neonatal Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Thrombocytopenia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Thrombocytopenia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Meningitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Meningitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hyperglycemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hyperglycemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late Onset Neonatal Pneumonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late Onset Neonatal Pneumonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Late-Onset Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Late-Onset Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Torulopsis Glabrata Fungemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Torulopsis Glabrata Fungemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Marfan Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Marfan Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Diarrhea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Intestinal Obstruction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Intestinal Obstruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Noninfective Neonatal Diarrhea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Noninfective Neonatal Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Necrotizing Enterocolitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Necrotizing Enterocolitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Respiratory System Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Respiratory System Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Leukaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Leukaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cyanosis, Transient Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cyanosis, Transient Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Indirect Hyperbilirubinemia, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Indirect Hyperbilirubinemia, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Alloimmune Thrombocytopenia (Nait) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Alloimmune Thrombocytopenia (Nait) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Neonatal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Neonatal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Maladjustment Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Maladjustment Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Neonatal Epilepsy, Nonfamilial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Neonatal Epilepsy, Nonfamilial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Listeriosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Listeriosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Thrombosis Of Cerebral Venous Sinus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Thrombosis Of Cerebral Venous Sinus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Unconjugated Hyperbilirubinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Unconjugated Hyperbilirubinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
6Q24-Related Transient Neonatal Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 6Q24-Related Transient Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Rickets Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Rickets in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Testicular Torsion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Testicular Torsion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Disorder Of Endocrine System Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Disorder Of Endocrine System in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hyperthyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hyperthyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Thyrotoxicosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Thyrotoxicosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prolonged Neonatal Jaundice Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Prolonged Neonatal Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Respiratory Distress Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Respiratory Distress in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Insulin-Dependent Diabetes Mellitus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Insulin-Dependent Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Jaundice Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Onset Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Neonatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Spontaneous Neonatal Pneumothorax Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Spontaneous Neonatal Pneumothorax in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Neonatal Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Neonatal Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Breathing Dysregulation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Breathing Dysregulation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Cholestatic Liver Disease Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Cholestatic Liver Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Wrinkled Skin Of Hands And Feet Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Wrinkled Skin Of Hands And Feet in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Death Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Death in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hypertrypsinemia, Neonatal, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hypertrypsinemia, Neonatal, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Short-Trunk Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Direct Hyperbilirubinemia, Neonatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Direct Hyperbilirubinemia, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Inspiratory Stridor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Inspiratory Stridor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Epiphyseal Stippling Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Epiphyseal Stippling in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Transient Neonatal Hyperparathyroidism Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Transient Neonatal Hyperparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
neonatal lethality, complete penetrance Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the neonatal lethality, complete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
neonatal lethality, incomplete penetrance Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the neonatal lethality, incomplete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
neonatal lethality Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the neonatal lethality phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Neonatal astrocyte_Brain_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Neonatal astrocyte_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Benign neonatal seizures Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Benign neonatal seizures from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neonatal period electroclinical syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neonatal period electroclinical syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neonatal diabetes Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neonatal diabetes from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Permanent neonatal diabetes mellitus Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Permanent neonatal diabetes mellitus from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neonatal diabetes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal diabetes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal respiratory failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal respiratory failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Permanent neonatal diabetes mellitus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Permanent neonatal diabetes mellitus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal jaundice Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal jaundice in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal period electroclinical syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal period electroclinical syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Transient neonatal diabetes mellitus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient neonatal diabetes mellitus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
neonatal-onset type II citrullinemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease neonatal-onset type II citrullinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign neonatal seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign neonatal seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal abstinence syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal abstinence syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal leukemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal leukemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal thyrotoxicosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal thyrotoxicosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial neonatal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial neonatal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Transient neonatal thrombocytopenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient neonatal thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Transient neonatal neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient neonatal neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal myasthenia gravis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal myasthenia gravis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal candidiasis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal candidiasis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal diabetes mellitus with congenital hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal diabetes mellitus with congenital hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal infective mastitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal infective mastitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal/infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal/infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Permanent neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Permanent neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal insulin-dependent diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal insulin-dependent diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transitory neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Transitory neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transient Neonatal Diabetes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Transient Neonatal Diabetes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
History of neonatal hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the History of neonatal hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal Marfan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal Marfan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign neonatal seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign neonatal seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign Neonatal Epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign Neonatal Epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal pseudo-hydrocephalic progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal pseudo-hydrocephalic progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal hypoglycemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal hypoglycemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Isolated neonatal sclerosing cholangitis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Isolated neonatal sclerosing cholangitis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal ichthyosis-sclerosing cholangitis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal ichthyosis-sclerosing cholangitis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fetal and neonatal alloimmune thrombocytopenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fetal and neonatal alloimmune thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal death Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal death phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal respiratory distress Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal respiratory distress phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal inflammatory skin and bowel disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal inflammatory skin and bowel disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal white matter microstructure Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal white matter microstructure phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal cytokine/chemokine levels (maternal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal cytokine/chemokine levels (maternal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal cytokine/chemokine levels (fetal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal cytokine/chemokine levels (fetal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal lupus Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal lupus phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
chromatin remodeling by hswi/snf atp-dependent complexes Gene SetFrom Biocarta Pathways proteins participating in the chromatin remodeling by hswi/snf atp-dependent complexes pathway from the Biocarta Pathways dataset. |
dna topoisomerase complex (atp-hydrolyzing) Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the dna topoisomerase complex (atp-hydrolyzing) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
atp-binding cassette (abc) transporter complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the atp-binding cassette (abc) transporter complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
atp-sensitive potassium channel complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the atp-sensitive potassium channel complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
atp-sensitive potassium channel complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the atp-sensitive potassium channel complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
atp-binding cassette (abc) transporter complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the atp-binding cassette (abc) transporter complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
tripartite atp-independent periplasmic transporter complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the tripartite atp-independent periplasmic transporter complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
atp-binding cassette (abc) transporter complex, transmembrane substrate-binding subunit-containing Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the atp-binding cassette (abc) transporter complex, transmembrane substrate-binding subunit-containing cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Setproteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset. |
6-N,N-diethyl-beta,gamma-dibromomethylene-D-ATP Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 6-N,N-diethyl-beta,gamma-dibromomethylene-D-ATP from the curated CTD Gene-Chemical Interactions dataset. |
response heterogeneity of human macrophages to atp Gene SetFrom GAD Gene-Disease Associations genes associated with the disease response heterogeneity of human macrophages to atp in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atp Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term atp in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
atp synthesis coupled proton transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atp synthesis coupled proton transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
response to atp Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to atp biological process from the curated GO Biological Process Annotations 2015 dataset. |
atp synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atp synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of atp metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of atp metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
atp biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atp biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of atp:adp antiporter activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of atp:adp antiporter activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of dna topoisomerase (atp-hydrolyzing) activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of dna topoisomerase (atp-hydrolyzing) activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
atp-dependent chromatin remodeling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atp-dependent chromatin remodeling biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of atp biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of atp biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
cellular response to atp Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cellular response to atp biological process from the curated GO Biological Process Annotations 2015 dataset. |
atp transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atp transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of atp biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of atp biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of atp metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of atp metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of dna topoisomerase (atp-hydrolyzing) activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of dna topoisomerase (atp-hydrolyzing) activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
atp hydrolysis coupled proton transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atp hydrolysis coupled proton transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
atp metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atp metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of atp metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of atp metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of atp biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of atp biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
atp-sensitive potassium channel complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the atp-sensitive potassium channel complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
dna topoisomerase complex (atp-hydrolyzing) Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the dna topoisomerase complex (atp-hydrolyzing) cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
atp-binding cassette (abc) transporter complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the atp-binding cassette (abc) transporter complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
atp-dependent polynucleotide kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent polynucleotide kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-activated inward rectifier potassium channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-activated inward rectifier potassium channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-binding and phosphorylation-dependent chloride channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-binding and phosphorylation-dependent chloride channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp:adp antiporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp:adp antiporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent rna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent rna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
rna ligase (atp) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the rna ligase (atp) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-activated nucleotide receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-activated nucleotide receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sulfate adenylyltransferase (atp) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sulfate adenylyltransferase (atp) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dna ligase (atp) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dna ligase (atp) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-[propionyl-coa-carboxylase (atp-hydrolyzing)] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[propionyl-coa-carboxylase (atp-hydrolyzing)] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp:3'-cytidine-cytidine-trna adenylyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp:3'-cytidine-cytidine-trna adenylyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent 5'-3' dna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent 5'-3' dna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
single-stranded dna-dependent atp-dependent dna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the single-stranded dna-dependent atp-dependent dna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent 5'-3' dna/rna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent 5'-3' dna/rna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
5-oxoprolinase (atp-hydrolyzing) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 5-oxoprolinase (atp-hydrolyzing) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp diphosphatase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dna topoisomerase type ii (atp-hydrolyzing) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dna topoisomerase type ii (atp-hydrolyzing) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent 5'-3' rna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent 5'-3' rna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent polyribonucleotide 5'-hydroxyl-kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent polyribonucleotide 5'-hydroxyl-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent 3'-5' dna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent 3'-5' dna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent nad(p)h-hydrate dehydratase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent nad(p)h-hydrate dehydratase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent peptidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent peptidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
extracellular atp-gated cation channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the extracellular atp-gated cation channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent dna/rna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent dna/rna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent microtubule motor activity, plus-end-directed Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent microtubule motor activity, plus-end-directed molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent dna helicase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent dna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent microtubule motor activity, minus-end-directed Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent microtubule motor activity, minus-end-directed molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
atp-dependent protein binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the atp-dependent protein binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
TNP-ATP Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the TNP-ATP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
ATPγS Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the ATPγS ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
Phosphoribosyl-ATP Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Phosphoribosyl-ATP metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Synapsin, ATP-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Synapsin, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-dependent (S)-NAD(P)H-hydrate dehydratase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-dependent (S)-NAD(P)H-hydrate dehydratase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GMP synthetase ATP pyrophosphatase domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GMP synthetase ATP pyrophosphatase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily C member 9 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily C member 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily C member 8 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily C member 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Mrp/NBP35 ATP-binding protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Mrp/NBP35 ATP-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette sub-family A member 3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette sub-family A member 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Retinal-specific ATP-binding cassette transporter Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Retinal-specific ATP-binding cassette transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-NAD kinase, PpnK-type, all-beta Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-NAD kinase, PpnK-type, all-beta protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA recombination and repair protein RecA-like, ATP-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA recombination and repair protein RecA-like, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
UvrD-like Helicase, ATP-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the UvrD-like Helicase, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Synapsin, pre-ATP-grasp domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Synapsin, pre-ATP-grasp domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-grasp fold, subdomain 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-grasp fold, subdomain 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-grasp fold, subdomain 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-grasp fold, subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-citrate lyase/succinyl-CoA ligase, active site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-citrate lyase/succinyl-CoA ligase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-dependent Clp protease proteolytic subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-dependent Clp protease proteolytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Inorganic polyphosphate/ATP-NAD kinase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Inorganic polyphosphate/ATP-NAD kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 12 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 12 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily G member 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily G member 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-dependent RNA helicase DEAD-box, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-dependent RNA helicase DEAD-box, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-citrate lyase/succinyl-CoA ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-citrate lyase/succinyl-CoA ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-grasp fold, succinyl-CoA synthetase-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-grasp fold, succinyl-CoA synthetase-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-dependent helicase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-dependent helicase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Snf2 ATP coupling domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Snf2 ATP coupling domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP:guanido phosphotransferase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP:guanido phosphotransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pre-ATP-grasp domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pre-ATP-grasp domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily B member 9 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily B member 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily B member 6 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily B member 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA ligase, ATP-dependent, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA ligase, ATP-dependent, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP:guanido phosphotransferase, catalytic domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP:guanido phosphotransferase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP:cob(I)alamin adenosyltransferase, PduO-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP:cob(I)alamin adenosyltransferase, PduO-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-grasp fold Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-grasp fold protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Helicase superfamily 1/2, ATP-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Helicase superfamily 1/2, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 7 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 6 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 5 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 8 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA ligase, ATP-dependent, central Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA ligase, ATP-dependent, central protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily B member 10 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily B member 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GHMP kinase, ATP-binding, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GHMP kinase, ATP-binding, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA helicase, ATP-dependent, RecQ type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA helicase, ATP-dependent, RecQ type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Probable ATP-dependent RNA helicase DDX11/DDX12 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Probable ATP-dependent RNA helicase DDX11/DDX12 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Protein kinase, ATP binding site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein kinase, ATP binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-grasp fold, RimK-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-grasp fold, RimK-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Clp protease, ATP-binding subunit ClpX Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Clp protease, ATP-binding subunit ClpX protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Sigma-54 interaction domain, ATP-binding site 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Sigma-54 interaction domain, ATP-binding site 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-sulfurylase PUA-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-sulfurylase PUA-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-cone Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-cone protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP:guanido phosphotransferase active site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP:guanido phosphotransferase active site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
RNA helicase, ATP-dependent, SK12/DOB1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA helicase, ATP-dependent, SK12/DOB1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Inorganic polyphosphate/ATP-NAD kinase, domain 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Inorganic polyphosphate/ATP-NAD kinase, domain 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-NAD kinase-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-NAD kinase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily C member 11 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily C member 11 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA ligase, ATP-dependent, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA ligase, ATP-dependent, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP:guanido phosphotransferase, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP:guanido phosphotransferase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATP-binding cassette subfamily A member 9 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-binding cassette subfamily A member 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA ligase, ATP-dependent Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA ligase, ATP-dependent protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA ligase, ATP-dependent, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA ligase, ATP-dependent, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
decreased platelet atp level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased platelet atp level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal platelet atp level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal platelet atp level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ATP synthesis Gene SetFrom PANTHER Pathways proteins participating in the ATP synthesis pathway from the PANTHER Pathways dataset. |
atp Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term atp in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
ATP sensitive Potassium channels Gene Setproteins participating in the ATP sensitive Potassium channels pathway from the Reactome Pathways dataset. |
Formation of ATP by chemiosmotic coupling Gene Setproteins participating in the Formation of ATP by chemiosmotic coupling pathway from the Reactome Pathways dataset. |
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. Gene Setproteins participating in the Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway from the Reactome Pathways dataset. |
ATP metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ATP metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of ATP-dependent activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of ATP-dependent activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
ATP transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ATP transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
response to ATP Gene SetFrom GO Biological Process Annotations 2023 genes participating in the response to ATP biological process from the curated GO Biological Process Annotations 2023 dataset. |
cellular response to ATP Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cellular response to ATP biological process from the curated GO Biological Process Annotations 2023 dataset. |
proton motive force-driven ATP synthesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the proton motive force-driven ATP synthesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
ATP biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ATP biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of ATP-dependent activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of ATP-dependent activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of ATP biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of ATP biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
ATP generation from poly-ADP-D-ribose Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ATP generation from poly-ADP-D-ribose biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of ATP biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of ATP biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
ATP export Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ATP export biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of ATP:ADP antiporter activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of ATP:ADP antiporter activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
plasma membrane ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the plasma membrane ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of ATP metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of ATP metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of ATP biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of ATP biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of ATP metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of ATP metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of ATP metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of ATP metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
ATP synthesis coupled electron transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ATP synthesis coupled electron transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of DNA topoisomerase (ATP-hydrolyzing) activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of DNA topoisomerase (ATP-hydrolyzing) activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
ATP-binding cassette (ABC) transporter complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the ATP-binding cassette (ABC) transporter complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
ATP binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ATP binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
5-oxoprolinase (ATP-hydrolyzing) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 5-oxoprolinase (ATP-hydrolyzing) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
extracellularly ATP-gated monoatomic cation channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the extracellularly ATP-gated monoatomic cation channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sulfate adenylyltransferase (ATP) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sulfate adenylyltransferase (ATP) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ATP transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ATP transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ATP-activated inward rectifier potassium channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ATP-activated inward rectifier potassium channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ATP:ADP antiporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ATP:ADP antiporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
DNA topoisomerase type I (single strand cut, ATP-independent) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the DNA topoisomerase type I (single strand cut, ATP-independent) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
intracellularly ATP-gated chloride channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the intracellularly ATP-gated chloride channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ATP diphosphatase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ATP diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2-hydroxy-ATP hydrolase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2-hydroxy-ATP hydrolase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
G protein-coupled ATP receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the G protein-coupled ATP receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
DNA ligase (ATP) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the DNA ligase (ATP) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ATP adenylyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ATP adenylyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |