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HLCS Geneholocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011] |
Biotin-Responsive Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin-Responsive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
biotin-6689 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the biotin-6689 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
biotin-3289 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the biotin-3289 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
biotin-2428 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the biotin-2428 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
Biotin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Biotin from the curated CTD Gene-Chemical Interactions dataset. |
Biotin Gene Setinteracting proteins for the Biotin drug from the curated DrugBank Drug Targets dataset. |
biotin Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term biotin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
response to biotin Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to biotin biological process from the curated GO Biological Process Annotations 2015 dataset. |
biotin metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the biotin metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
biotin transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the biotin transport biological process from the curated GO Biological Process 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. |
biotin-[methylcrotonoyl-coa-carboxylase] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[methylcrotonoyl-coa-carboxylase] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-[acetyl-coa-carboxylase] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[acetyl-coa-carboxylase] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-protein ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-protein ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin carboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-[methylmalonyl-coa-carboxytransferase] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[methylmalonyl-coa-carboxytransferase] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Biotin Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Biotin metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Biotin amide Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Biotin amide metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Biotin carboxylation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin carboxylation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin/lipoate A/B protein ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin/lipoate A/B protein ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin--acetyl-CoA-carboxylase ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin--acetyl-CoA-carboxylase ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin carboxylase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin carboxylase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin-binding site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin protein ligase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin protein ligase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin/lipoyl attachment Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin/lipoyl attachment protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
biotin metabolism Gene SetFrom KEGG Pathways proteins participating in the biotin metabolism pathway from the KEGG Pathways dataset. |
Biotin transport and metabolism Gene Setproteins participating in the Biotin transport and metabolism pathway from the Reactome Pathways dataset. |
Defects in biotin (Btn) metabolism Gene Setproteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset. |
Biotin Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biotin Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biotin-Dependent Carboxylase Deficiency, Unspecified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin-Dependent Carboxylase Deficiency, Unspecified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biotin-[Acetyl-Coa-Carboxylase] Ligase Activity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Biotin-[Acetyl-Coa-Carboxylase] Ligase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
biotin metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the biotin metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
response to biotin Gene SetFrom GO Biological Process Annotations 2023 genes participating in the response to biotin biological process from the curated GO Biological Process Annotations 2023 dataset. |
biotin transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the biotin transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
biotin import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the biotin import across plasma membrane biological process from the curated GO Biological Process 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. |
biotin transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biotin carboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biotin-[acetyl-CoA-carboxylase] ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin-[acetyl-CoA-carboxylase] ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
Biotin Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Biotin metabolite from the MW Gene Metabolite Associations dataset. |
Biotin metabolism including IMDs Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Biotin metabolism including IMDs pathway from the WikiPathways Pathways 2024 dataset. |
Biotin transport and metabolism Gene Setproteins participating in the Biotin transport and metabolism pathway from the Reactome Pathways 2024 dataset. |
Defects in biotin (Btn) metabolism Gene Setproteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways 2024 dataset. |
biotin metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the biotin metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
response to biotin Gene SetFrom GO Biological Process Annotations 2025 genes participating in the response to biotin biological process from the curated GO Biological Process Annotations 2025 dataset. |
biotin transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the biotin transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
biotin import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the biotin import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
biotin transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biotin transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
biotin carboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Biotin deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biotin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biotin carboxylase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Biotin carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Biotin metabolism Gene SetFrom KEGG Pathways 2026 proteins participating in the Biotin metabolism pathway from the KEGG Pathways 2026 dataset. |
BIOTIN Gene Setinteracting proteins for the BIOTIN drug from theDGIdb Drug Targets 2026 dataset. |
[125I]N-BIOTIN-[AHX0, BPA3]U-II (HUMAN) Gene Setinteracting proteins for the [125I]N-BIOTIN-[AHX0, BPA3]U-II (HUMAN) drug from theDGIdb Drug Targets 2026 dataset. |
Early myoclonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early myoclonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
epileptic encephalopathy, early infanitle, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the epileptic encephalopathy, early infanitle, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, childhood-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial encephalopathy with neuroserpin inclusion bodies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 26 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ethylmalonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ethylmalonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 4 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 1 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 2 from the curated CTD Gene-Disease Associations dataset. |
Hypertensive Encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertensive Encephalopathy from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 from the curated CTD Gene-Disease Associations dataset. |
Hepatic Encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Encephalopathy from the curated CTD Gene-Disease Associations dataset. |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 from the curated CTD Gene-Disease Associations dataset. |
Epileptic encephalopathy, Lennox-Gastaut type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic encephalopathy, Lennox-Gastaut type from the curated CTD Gene-Disease Associations dataset. |
Wernicke Encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wernicke Encephalopathy from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 from the curated CTD Gene-Disease Associations dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial encephalopathy with neuroserpin inclusion bodies from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial neurogastrointestinal encephalopathy syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial neurogastrointestinal encephalopathy syndrome from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 from the curated CTD Gene-Disease Associations 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. |
Epileptic Encephalopathy, Early Infantile, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 from the curated CTD Gene-Disease Associations dataset. |
Spongiform Encephalopathy with Neuropsychiatric Features Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spongiform Encephalopathy with Neuropsychiatric Features from the curated CTD Gene-Disease Associations dataset. |
Ethylmalonic encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ethylmalonic encephalopathy from the curated CTD Gene-Disease Associations dataset. |
glycine encephalopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease glycine encephalopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
glycine encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease glycine encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hepatic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
early myoclonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease early myoclonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
wernicke encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease wernicke encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
toxic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease toxic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypertensive encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hypertensive encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
chronic toxic encephalopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic toxic encephalopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatic encephalopathy; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatic encephalopathy; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
encephalopathy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term encephalopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
hypoglycemic encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the hypoglycemic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
recurrent encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the recurrent encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
epileptic encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the epileptic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acute encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the acute encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mitochondrial encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the mitochondrial encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acute necrotizing encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the acute necrotizing encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hepatic Encephalopathy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hepatic Encephalopathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Encephalopathy, Bovine Spongiform Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Encephalopathy, Bovine Spongiform phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
spongiform encephalopathy Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the spongiform encephalopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
{encephalopathy, acute, infection-induced, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {encephalopathy, acute, infection-induced, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{encephalopathy, acute, infection-induced, 3, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {encephalopathy, acute, infection-induced, 3, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{encephalopathy, acute, infection-induced, 4, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {encephalopathy, acute, infection-induced, 4, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
ethylmalonic encephalopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ethylmalonic encephalopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, familial, with neuroserpin inclusion bodies Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, familial, with neuroserpin inclusion bodies 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. |
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
glycine encephalopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the glycine encephalopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epileptic encephalopathy, early infantile, 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epileptic encephalopathy, early infantile, 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, progressive, with or without lipodystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, progressive, with or without lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, childhood-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective ACY1 causes encephalopathy Gene Setproteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways dataset. |
Epileptic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epileptic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ethylmalonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ethylmalonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spongiform Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spongiform Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypoxic-Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypoxic-Ischemic Encephalopathy 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. |
Acute Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hiv Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hiv Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hepatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uremic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uremic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arsenic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arsenic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Minimal Hepatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Minimal Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Posterior Reversible Encephalopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Posterior Reversible Encephalopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Myoclonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Myoclonic Encephalopathy 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. |
Chronic Traumatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Traumatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Encephalopathy, Infantile Subacute, Of Leigh in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wernicke Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wernicke Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Static Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Static Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Necrotizing Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Necrotizing Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Necrotizing Encephalopathy Of Childhood Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Necrotizing Encephalopathy Of Childhood in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transmissible Mink Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transmissible Mink Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Encephalopathy With Neuroserpin Inclusion Bodies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Encephalopathy With Neuroserpin Inclusion Bodies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mercury Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mercury Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonprogressive Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonprogressive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Hepatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Febrile Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Febrile Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Profound Static Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Profound Static Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Neurogastrointestinal Encephalopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spongiform Encephalopathy With Neuropsychiatric Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spongiform Encephalopathy With Neuropsychiatric Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Acute Necrotizing Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Acute Necrotizing Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scn8A-Related Epilepsy With Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scn8A-Related Epilepsy With Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy, Refractory Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infanctile Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infanctile Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glycine Encephalopathy With Normal Serum Glycine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glycine Encephalopathy With Normal Serum Glycine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infanctile Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infanctile Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Recurrent Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Recurrent Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Epileptic Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Epileptic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
spongiform encephalopathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the spongiform encephalopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
encephalopathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the encephalopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Ethylmalonic encephalopathy Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Ethylmalonic encephalopathy pathway from the WikiPathways Pathways 2024 dataset. |
Defective ACY1 causes encephalopathy Gene Setproteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways 2024 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 14 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 14 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 13 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 13 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Glycine encephalopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Glycine encephalopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial encephalopathy with neuroserpin inclusion bodies from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Ethylmalonic encephalopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ethylmalonic encephalopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 26 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 26 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 4 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 4 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Toxic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Toxic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Chronic traumatic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic traumatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ethylmalonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ethylmalonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 28 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 28 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hepatic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early infantile epileptic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early infantile epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 86 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 86 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early myoclonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early myoclonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Diabetic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diabetic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 29 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypertensive encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypertensive encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 84 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 84 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Wernicke encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Wernicke encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Glycine encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glycine encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 55 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 55 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 80 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 80 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 36 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 36 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 15 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 25 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 73 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 73 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 26 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 93 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 93 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 53 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 53 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 48 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 48 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 52 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 52 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
TANGO2-related metabolic encephalopathy and arrythmias Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease TANGO2-related metabolic encephalopathy and arrythmias in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 14 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial encephalopathy with neuroserpin inclusion bodies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 76 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 76 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 27 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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. |
Developmental and epileptic encephalopathy 47 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 47 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 98 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 98 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 54 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 54 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 30 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 50 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 50 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 39 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 39 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 42 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 42 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 38 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 38 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 31A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 31A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 60 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 60 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 62 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 62 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 37 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 37 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 32 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 103 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 103 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 91 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 91 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 33 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 33 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 66 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 66 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early onset progressive encephalopathy with brain atrophy and thin corpus callosum Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early onset progressive encephalopathy with brain atrophy and thin corpus callosum in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 56 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 56 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 18 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 87 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 87 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 94 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 94 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 17 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 6B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 6B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 69 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 69 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 65 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 65 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 24 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 43 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 35 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 99 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 99 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 97 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 97 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 75 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 75 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 63 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 63 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 102 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 102 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 82 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 82 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 41 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 34 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 34 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 85 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 85 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 49 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 49 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 46 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 46 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 67 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 67 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 104 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 104 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 106 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 106 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 44 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 74 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 74 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 58 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 58 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 90 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 90 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 57 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 57 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 45 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 45 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 72 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 72 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 78 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 78 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 71 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 71 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 100 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 100 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 96 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 96 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 89 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 89 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 70 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 70 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 64 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 64 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early myoclonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early myoclonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ethylmalonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ethylmalonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial acute necrotizing encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial acute necrotizing encephalopathy 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. |
Glycine encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycine encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spongiform encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spongiform encephalopathy 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. |
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. |
Macrocephaly and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrocephaly and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Genetic developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genetic developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early Infantile Epileptic Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early Infantile Epileptic Encephalopathy 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. |
Undetermined early-onset epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Undetermined early-onset epileptic encephalopathy 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. |
Early onset epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic Infantile Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Unclassified developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Unclassified developmental and epileptic encephalopathy 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. |
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. |
BSCL2-related Developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the BSCL2-related Developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile epileptic dyskinetic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile epileptic dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
Progressive childhood encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive childhood encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical glycine encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical glycine encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recurrent encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TRIM8-related epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TRIM8-related epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
RYR3-related Epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RYR3-related Epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HCN2 related developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the HCN2 related developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SNAP25-related early-onset developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SNAP25-related early-onset developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalitis/encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalitis/encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SYNGAP1-related encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SYNGAP1-related encephalopathy 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. |
KCNA3-associated developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNA3-associated developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GABRA4-related developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GABRA4-related developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |