Name

HLCS Gene

holocarboxylase 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]

MCCC1 Gene

methylcrotonoyl-CoA carboxylase 1 (alpha)

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]

ACACA Gene

acetyl-CoA carboxylase alpha

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACACB Gene

acetyl-CoA carboxylase beta

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]

PC Gene

pyruvate carboxylase

This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

PAICSP3 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3

PAICSP2 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2

PAICSP1 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1

PAICSP7 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7

PAICSP6 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6

PAICSP5 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5

PAICSP4 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4

MCCC2 Gene

methylcrotonoyl-CoA carboxylase 2 (beta)

This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

PAICS Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase

This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GGCX Gene

gamma-glutamyl carboxylase

This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

PCCB Gene

propionyl CoA carboxylase, beta polypeptide

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

PCCA Gene

propionyl CoA carboxylase, alpha polypeptide

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Biotin carboxylase, C-terminal Gene Set

From 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-[propionyl-coa-carboxylase (atp-hydrolyzing)] ligase activity Gene Set

From 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 Set

From 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 Set

From 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 carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Biotin--acetyl-CoA-carboxylase ligase Gene Set

From 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-Dependent Carboxylase Deficiency, Unspecified Gene Set

From 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 Set

From 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-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity Gene Set

From 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 carboxylase activity Gene Set

From 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 Set

From 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 carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Biotin carboxylase complex Gene Set

From 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.

Basal ganglia disease, biotin-responsive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Basal ganglia disease, biotin-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

biotin-6689 Gene Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Biotin from the curated CTD Gene-Chemical Interactions dataset.

Basal ganglia disease, biotin-responsive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Basal ganglia disease, biotin-responsive from the curated CTD Gene-Disease Associations dataset.

biotin-responsive basal ganglia disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease biotin-responsive basal ganglia disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

biotin-responsive basal ganglia disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease biotin-responsive basal ganglia disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Biotin Gene Set

From DrugBank Drug Targets

interacting proteins for the Biotin drug from the curated DrugBank Drug Targets dataset.

biotin Gene Set

From 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 Set

From 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 Set

From 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 Set

From GO Biological Process Annotations 2015

genes participating in the biotin transport biological process from the curated GO Biological Process Annotations 2015 dataset.

biotin-protein ligase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the biotin-protein ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

biotin-[methylmalonyl-coa-carboxytransferase] ligase activity Gene Set

From 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 Set

From GO Molecular Function Annotations 2015

genes performing the biotin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Biotin Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Biotin metabolite from the curated HMDB Metabolites of Enzymes dataset.

Biotin amide Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Biotin amide metabolite from the curated HMDB Metabolites of Enzymes dataset.

Biotin carboxylation domain Gene Set

From 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 Set

From 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-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Biotin-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Biotin/lipoyl attachment Gene Set

From 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 Set

From KEGG Pathways

proteins participating in the biotin metabolism pathway from the KEGG Pathways dataset.

thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Gene Set

From OMIM Gene-Disease Associations

genes associated with the thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) phenotype from the curated OMIM Gene-Disease Associations dataset.

Biotin transport and metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Biotin transport and metabolism pathway from the Reactome Pathways dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset.

Biotin-Responsive Encephalopathy Gene Set

From 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 Deficiency Gene Set

From 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 Set

From 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.

Basal Ganglia Disease, Biotin-Responsive Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Basal Ganglia Disease, Biotin-Responsive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

biotin metabolic process Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the biotin transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

Biotin Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for Biotin metabolite from the MW Gene Metabolite Associations dataset.

Biotin metabolism including IMDs Gene Set

From WikiPathways Pathways 2024

proteins participating in the Biotin metabolism including IMDs pathway from the WikiPathways Pathways 2024 dataset.

Biotin transport and metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Biotin transport and metabolism pathway from the Reactome Pathways 2024 dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways 2024 dataset.

biotin metabolic process Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GO Molecular Function Annotations 2025

genes performing the biotin transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

biotin-responsive basal ganglia disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease biotin-responsive basal ganglia disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Biotin deficiency Gene Set

From 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-responsive basal ganglia disease Gene Set

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

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

Biotin-responsive basal ganglia disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Biotin-responsive basal ganglia disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Biotin metabolism Gene Set

From KEGG Pathways 2026

proteins participating in the Biotin metabolism pathway from the KEGG Pathways 2026 dataset.

BIOTIN Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the BIOTIN drug from theDGIdb Drug Targets 2026 dataset.

[125I]N-BIOTIN-[AHX0, BPA3]U-II (HUMAN) Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the [125I]N-BIOTIN-[AHX0, BPA3]U-II (HUMAN) drug from theDGIdb Drug Targets 2026 dataset.

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ribulose bisphosphate carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the ribulose bisphosphate carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plastid acetyl-coa carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plastid acetyl-coa carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

3-methylcrotonyl-coa carboxylase complex, mitochondrial Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the 3-methylcrotonyl-coa carboxylase complex, mitochondrial cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chloroplast ribulose bisphosphate carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chloroplast ribulose bisphosphate carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

acetyl-coa carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the acetyl-coa carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Carboxylase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl-coa carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease 3-methylcrotonyl-coa carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

multiple carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease multiple carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

multiple carboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease multiple carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

3-methylcrotonyl-coa carboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease 3-methylcrotonyl-coa carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

carboxylase Gene Set

From GeneRIF Biological Term Annotations

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

[acetyl-coa carboxylase] kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the [acetyl-coa carboxylase] kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

methylcrotonoyl-coa carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the methylcrotonoyl-coa carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

propionyl-coa carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the propionyl-coa carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphoribosylaminoimidazole carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphoribosylaminoimidazole carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

coa carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the coa carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

gamma-glutamyl carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the gamma-glutamyl carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

pyruvate carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the pyruvate carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

acetyl-coa carboxylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the acetyl-coa carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

decreased pyruvate carboxylase activity Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased pyruvate carboxylase activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

propionyl-coa carboxylase deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the propionyl-coa carboxylase deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Phosphoribosylaminoimidazole carboxylase PurE domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylaminoimidazole carboxylase PurE domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate carboxylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate carboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carboxylase, conserved domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carboxylase, conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vitamin K-dependent gamma-carboxylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin K-dependent gamma-carboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acetyl-CoA carboxylase, central domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acetyl-CoA carboxylase, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

3-methylcrotonyl-coa carboxylase 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylcrotonyl-coa carboxylase 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylcrotonyl-coa carboxylase 2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylcrotonyl-coa carboxylase 2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyruvate carboxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyruvate carboxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

acetyl-coa carboxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the acetyl-coa carboxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective HLCS causes multiple carboxylase deficiency Gene Set

From Reactome Pathways 2014

proteins participating in the Defective HLCS causes multiple carboxylase deficiency pathway from the Reactome Pathways dataset.

Acetyl-Coa: Carboxylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acetyl-Coa: Carboxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pyruvate Carboxylase Deficiency Disease Gene Set

From DisGeNET Gene-Disease Associations

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

Multiple Carboxylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

3-Methylcrotonyl Coa Carboxylase 1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 3-Methylcrotonyl Coa Carboxylase 1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Methylcrotonyl-Coa Carboxylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

3-Methylcrotonyl Coa Carboxylase 2 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 3-Methylcrotonyl Coa Carboxylase 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Decreased Pyruvate Carboxylase Activity Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Pyruvate Carboxylase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

acetyl-CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the acetyl-CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

propionyl-CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the propionyl-CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

pyruvate carboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the pyruvate carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

phosphoribosylaminoimidazole carboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the phosphoribosylaminoimidazole carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

gamma-glutamyl carboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the gamma-glutamyl carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

methylcrotonoyl-CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the methylcrotonoyl-CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

3-Methylcrotonyl-CoA carboxylase deficiency Gene Set

From Reactome Pathways 2024

proteins participating in the 3-Methylcrotonyl-CoA carboxylase deficiency pathway from the Reactome Pathways 2024 dataset.

Defective HLCS causes multiple carboxylase deficiency Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HLCS causes multiple carboxylase deficiency pathway from the Reactome Pathways 2024 dataset.

acetyl-CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the acetyl-CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

propionyl-CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the propionyl-CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

pyruvate carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the pyruvate carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

phosphoribosylaminoimidazole carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the phosphoribosylaminoimidazole carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

gamma-glutamyl carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the gamma-glutamyl carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

methylcrotonoyl-CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the methylcrotonoyl-CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

CoA carboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the CoA carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Multiple carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Multiple carboxylase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Pyruvate carboxylase deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Pyruvate carboxylase deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

3-methylcrotonyl-CoA carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease 3-methylcrotonyl-CoA carboxylase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Multiple carboxylase deficiency Gene Set

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

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

3-methylcrotonyl-CoA carboxylase deficiency Gene Set

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

genes co-occuring with the disease 3-methylcrotonyl-CoA carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

3-Methylcrotonyl-CoA carboxylase 2 deficiency Gene Set

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

genes co-occuring with the disease 3-Methylcrotonyl-CoA carboxylase 2 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

3-Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

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

genes co-occuring with the disease 3-Methylcrotonyl-CoA carboxylase 1 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

methylcrotonoyl-CoA carboxylase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the methylcrotonoyl-CoA carboxylase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

3-methylcrotonyl-CoA carboxylase complex, mitochondrial Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the 3-methylcrotonyl-CoA carboxylase complex, mitochondrial cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

methylcrotonoyl-CoA carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the methylcrotonoyl-CoA carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

acetyl-CoA carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the acetyl-CoA carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Phosphoribosylaminoimidazole carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Phosphoribosylaminoimidazole carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Ribulose bisphosphate carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Ribulose bisphosphate carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Plastid acetyl-CoA carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Plastid acetyl-CoA carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Chloroplast ribulose bisphosphate carboxylase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Chloroplast ribulose bisphosphate carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

3-methylcrotonyl-CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the 3-methylcrotonyl-CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylcrotonyl-CoA carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylcrotonyl-CoA carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

3-methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the 3-methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acetyl-CoA: carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acetyl-CoA: carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.