Name

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Arginine:Glycine Amidinotransferase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

glycine amidinotransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine amidinotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine amidinotransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine amidinotransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine amidinotransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine amidinotransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

peptidyl-arginine methylation, to symmetrical-dimethyl arginine Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-arginine methylation, to symmetrical-dimethyl arginine biological process from the curated GO Biological Process Annotations 2015 dataset.

peptidyl-arginine methylation, to asymmetrical-dimethyl arginine Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-arginine methylation, to asymmetrical-dimethyl arginine biological process from the curated GO Biological Process Annotations 2015 dataset.

peptidyl-arginine methylation, to symmetrical-dimethyl arginine Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine methylation, to symmetrical-dimethyl arginine biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-arginine methylation, to asymmetrical-dimethyl arginine Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine methylation, to asymmetrical-dimethyl arginine biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-arginine methylation, to symmetrical-dimethyl arginine Gene Set

From GO Biological Process Annotations 2025

genes participating in the peptidyl-arginine methylation, to symmetrical-dimethyl arginine biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine decarboxylation via glycine cleavage system Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine decarboxylation via glycine cleavage system biological process from the curated GO Biological Process Annotations 2015 dataset.

Glycine Encephalopathy With Normal Serum Glycine Gene Set

From 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.

glycine decarboxylation via glycine cleavage system Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine decarboxylation via glycine cleavage system biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine decarboxylation via glycine cleavage system Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine decarboxylation via glycine cleavage system biological process from the curated GO Biological Process Annotations 2025 dataset.

amidinotransferase activity Gene Set

From GO Molecular Function Annotations 2015

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

Amidinotransferase Gene Set

From InterPro Predicted Protein Domain Annotations

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

amidinotransferase activity Gene Set

From GO Molecular Function Annotations 2023

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

amidinotransferase activity Gene Set

From GO Molecular Function Annotations 2025

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

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

glycine n-methyltransferase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the glycine n-methyltransferase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

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

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

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phenylalanyl-prolyl-arginine methyl chloride Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical phenylalanyl-prolyl-arginine methyl chloride from the curated CTD Gene-Chemical Interactions dataset.

Arginine Vasopressin Gene Set

From CTD Gene-Chemical Interactions

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

Deamino Arginine Vasopressin Gene Set

From CTD Gene-Chemical Interactions

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

valyl-prolyl-aspartyl-prolyl-arginine Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical valyl-prolyl-aspartyl-prolyl-arginine from the curated CTD Gene-Chemical Interactions dataset.

L-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the L-Arginine drug from the curated DrugBank Drug Targets dataset.

N-Omega-Hydroxy-L-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the N-Omega-Hydroxy-L-Arginine drug from the curated DrugBank Drug Targets dataset.

Nor-N-Omega-Hydroxy-L-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the Nor-N-Omega-Hydroxy-L-Arginine drug from the curated DrugBank Drug Targets dataset.

5-N-Allyl-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the 5-N-Allyl-Arginine drug from the curated DrugBank Drug Targets dataset.

Benzoyl-Arginine-Alanine-Methyl Ketone Gene Set

From DrugBank Drug Targets

interacting proteins for the Benzoyl-Arginine-Alanine-Methyl Ketone drug from the curated DrugBank Drug Targets dataset.

Descarboxy-nor-N(Omega)-Hydroxy-L-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the Descarboxy-nor-N(Omega)-Hydroxy-L-Arginine drug from the curated DrugBank Drug Targets dataset.

N-Omega-Propyl-L-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the N-Omega-Propyl-L-Arginine drug from the curated DrugBank Drug Targets dataset.

Dinor-N(Omega)-Hydroxy-L-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the Dinor-N(Omega)-Hydroxy-L-Arginine drug from the curated DrugBank Drug Targets dataset.

D-Arginine Gene Set

From DrugBank Drug Targets

interacting proteins for the D-Arginine drug from the curated DrugBank Drug Targets dataset.

arginine Gene Set

From GeneRIF Biological Term Annotations

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

regulation of l-arginine import Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of l-arginine import biological process from the curated GO Biological Process Annotations 2015 dataset.

peptidyl-arginine n-methylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-arginine n-methylation biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of arginine catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of arginine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of arginine metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of arginine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

l-arginine transport Gene Set

From GO Biological Process Annotations 2015

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

l-arginine import Gene Set

From GO Biological Process Annotations 2015

genes participating in the l-arginine import biological process from the curated GO Biological Process Annotations 2015 dataset.

arginine transport Gene Set

From GO Biological Process Annotations 2015

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

peptidyl-arginine omega-n-methylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-arginine omega-n-methylation biological process from the curated GO Biological Process Annotations 2015 dataset.

histone arginine methylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the histone arginine methylation biological process from the curated GO Biological Process Annotations 2015 dataset.

arginine transmembrane transport Gene Set

From GO Biological Process Annotations 2015

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

regulation of arginine catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of arginine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

peptidyl-arginine methylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-arginine methylation biological process from the curated GO Biological Process Annotations 2015 dataset.

arginine metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the arginine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

arginine catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the arginine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

l-arginine import across plasma membrane Gene Set

From GO Biological Process Annotations 2015

genes participating in the l-arginine import across plasma membrane biological process from the curated GO Biological Process Annotations 2015 dataset.

arginine biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the arginine biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

l-arginine transmembrane transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the l-arginine transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.

l-arginine import into cell Gene Set

From GO Biological Process Annotations 2015

genes participating in the l-arginine import into cell biological process from the curated GO Biological Process Annotations 2015 dataset.

histone arginine demethylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the histone arginine demethylation biological process from the curated GO Biological Process Annotations 2015 dataset.

arginine biosynthetic process via ornithine Gene Set

From GO Biological Process Annotations 2015

genes participating in the arginine biosynthetic process via ornithine biological process from the curated GO Biological Process Annotations 2015 dataset.

arginine import Gene Set

From GO Biological Process Annotations 2015

genes participating in the arginine import biological process from the curated GO Biological Process Annotations 2015 dataset.

putrescine biosynthetic process from arginine Gene Set

From GO Biological Process Annotations 2015

genes participating in the putrescine biosynthetic process from arginine biological process from the curated GO Biological Process Annotations 2015 dataset.

peptidyl-arginine modification Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-arginine modification biological process from the curated GO Biological Process Annotations 2015 dataset.

protein-arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2015

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

protein-arginine n-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein-arginine n-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

arginine n-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the arginine n-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

arginine-trna ligase activity Gene Set

From GO Molecular Function Annotations 2015

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

nad(p)+-protein-arginine adp-ribosyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nad(p)+-protein-arginine adp-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

[myelin basic protein]-arginine n-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the [myelin basic protein]-arginine n-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

arginine binding Gene Set

From GO Molecular Function Annotations 2015

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

protein-arginine omega-n symmetric methyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein-arginine omega-n symmetric methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein-arginine omega-n monomethyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein-arginine omega-n monomethyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein-arginine omega-n asymmetric methyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein-arginine omega-n asymmetric methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

high-affinity arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the high-affinity arginine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

l-arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the l-arginine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone-arginine n-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone-arginine n-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

low-affinity l-arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the low-affinity l-arginine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the arginine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Nωpropyl-L-arginine Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the Nωpropyl-L-arginine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

L-arginine Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the L-arginine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

L-Arginine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the L-Arginine metabolite from the curated HMDB Metabolites of Enzymes dataset.

ADP-Ribosyl-L-arginine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the ADP-Ribosyl-L-arginine metabolite from the curated HMDB Metabolites of Enzymes dataset.

D-Arginine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the D-Arginine metabolite from the curated HMDB Metabolites of Enzymes dataset.

beta-Alanyl-L-arginine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the beta-Alanyl-L-arginine metabolite from the curated HMDB Metabolites of Enzymes dataset.

Dimethyl-L-arginine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Dimethyl-L-arginine metabolite from the curated HMDB Metabolites of Enzymes dataset.

Homo-L-arginine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Homo-L-arginine metabolite from the curated HMDB Metabolites of Enzymes dataset.

abnormality of arginine metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of arginine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Arginine-tRNA ligase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine-tRNA ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/arginine-rich splicing factor 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/arginine-rich splicing factor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/arginine-rich splicing factor 6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/arginine-rich splicing factor 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein arginine N-methyltransferase PRMT7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein arginine N-methyltransferase PRMT7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein arginine N-methyltransferase PRMT5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein arginine N-methyltransferase PRMT5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein-arginine deiminase (PAD) N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein-arginine deiminase (PAD) N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/arginine repetitive matrix protein, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/arginine repetitive matrix protein, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine/serine-rich protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine/serine-rich protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine-tRNA-protein transferase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine-tRNA-protein transferase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein arginine N-methyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein arginine N-methyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Histone-arginine methyltransferase CARM1, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Histone-arginine methyltransferase CARM1, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NAD:arginine ADP-ribosyltransferase, ART Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NAD:arginine ADP-ribosyltransferase, ART protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein-arginine deiminase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein-arginine deiminase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine repressor C-terminal-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine repressor C-terminal-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine/Asparagine/Proline hydroxylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine/Asparagine/Proline hydroxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein-arginine deiminase (PAD), central domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein-arginine deiminase (PAD), central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein-arginine deiminase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein-arginine deiminase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine N-methyltransferase 2-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine N-methyltransferase 2-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine-tRNA-protein transferase 1, eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine-tRNA-protein transferase 1, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine vasopressin-induced protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine vasopressin-induced protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginine-tRNA-protein transferase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginine-tRNA-protein transferase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

arginine and proline metabolism Gene Set

From KEGG Pathways

proteins participating in the arginine and proline metabolism pathway from the KEGG Pathways dataset.

d arginine and d ornithine metabolism Gene Set

From KEGG Pathways

proteins participating in the d arginine and d ornithine metabolism pathway from the KEGG Pathways dataset.

Arginine biosynthesis Gene Set

From PANTHER Pathways

proteins participating in the Arginine biosynthesis pathway from the PANTHER Pathways dataset.

arginine Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term arginine in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

peptidyl-arginine N-methylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine N-methylation biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-arginine methylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine methylation biological process from the curated GO Biological Process Annotations 2023 dataset.

L-arginine import across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the L-arginine import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of arginine catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of arginine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

L-arginine transmembrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the L-arginine transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of arginine biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of arginine biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-arginine hydroxylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine hydroxylation biological process from the curated GO Biological Process Annotations 2023 dataset.

protein N-linked glycosylation via arginine Gene Set

From GO Biological Process Annotations 2023

genes participating in the protein N-linked glycosylation via arginine biological process from the curated GO Biological Process Annotations 2023 dataset.

cellular response to L-arginine Gene Set

From GO Biological Process Annotations 2023

genes participating in the cellular response to L-arginine biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-arginine deglycation Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine deglycation biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of arginine metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of arginine metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine catabolic process to glutamate Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine catabolic process to glutamate biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine biosynthetic process via ornithine Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine biosynthetic process via ornithine biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine catabolic process to ornithine Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine catabolic process to ornithine biological process from the curated GO Biological Process Annotations 2023 dataset.

putrescine biosynthetic process from arginine, using agmatinase Gene Set

From GO Biological Process Annotations 2023

genes participating in the putrescine biosynthetic process from arginine, using agmatinase biological process from the curated GO Biological Process Annotations 2023 dataset.

histone arginine methylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the histone arginine methylation biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine catabolic process to proline via ornithine Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine catabolic process to proline via ornithine biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-arginine modification Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine modification biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of arginine catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of arginine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-arginine omega-N-methylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-arginine omega-N-methylation biological process from the curated GO Biological Process Annotations 2023 dataset.

response to L-arginine Gene Set

From GO Biological Process Annotations 2023

genes participating in the response to L-arginine biological process from the curated GO Biological Process Annotations 2023 dataset.

putrescine biosynthetic process from arginine Gene Set

From GO Biological Process Annotations 2023

genes participating in the putrescine biosynthetic process from arginine biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine catabolic process to proline Gene Set

From GO Biological Process Annotations 2023

genes participating in the arginine catabolic process to proline biological process from the curated GO Biological Process Annotations 2023 dataset.

arginine binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the arginine binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

histone arginine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the histone arginine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

protein-arginine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the protein-arginine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

protein-arginine omega-N symmetric methyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the protein-arginine omega-N symmetric methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

L-arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

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

NAD+-protein-arginine ADP-ribosyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the NAD+-protein-arginine ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

arginine-tRNA ligase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the arginine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

protein-arginine omega-N asymmetric methyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the protein-arginine omega-N asymmetric methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

high-affinity L-arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the high-affinity L-arginine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

L-lysine:L-arginine antiporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the L-lysine:L-arginine antiporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

arginine decarboxylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the arginine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

protein-arginine omega-N monomethyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the protein-arginine omega-N monomethyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

protein-arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the protein-arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

histone arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the histone arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

histone H3R2 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the histone H3R2 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

histone H3R8 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the histone H3R8 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

histone H3R17 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the histone H3R17 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

histone H3R26 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the histone H3R26 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

arginine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the arginine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

decreased circulating arginine level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased circulating arginine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased circulating arginine level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased circulating arginine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Arginine Gene Set

From MW Enzyme Metabolite Associations

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

beta-Alanyl-L-arginine Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for beta-Alanyl-L-arginine metabolite from the MW Gene Metabolite Associations dataset.

peptidyl-arginine N-methylation Gene Set

From GO Biological Process Annotations 2025

genes participating in the peptidyl-arginine N-methylation biological process from the curated GO Biological Process Annotations 2025 dataset.

peptidyl-arginine methylation Gene Set

From GO Biological Process Annotations 2025

genes participating in the peptidyl-arginine methylation biological process from the curated GO Biological Process Annotations 2025 dataset.

L-arginine import across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the L-arginine import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

arginine catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the arginine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

L-arginine biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the L-arginine biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

arginine metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the arginine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of arginine metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of arginine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

putrescine biosynthetic process from arginine, via ornithine Gene Set

From GO Biological Process Annotations 2025

genes participating in the putrescine biosynthetic process from arginine, via ornithine biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of arginine catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of arginine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

L-arginine transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the L-arginine transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of arginine biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of arginine biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

cellular response to L-arginine Gene Set

From GO Biological Process Annotations 2025

genes participating in the cellular response to L-arginine biological process from the curated GO Biological Process Annotations 2025 dataset.

N(omega),N(omega)-dimethyl-L-arginine catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the N(omega),N(omega)-dimethyl-L-arginine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

arginine catabolic process to ornithine Gene Set

From GO Biological Process Annotations 2025

genes participating in the arginine catabolic process to ornithine biological process from the curated GO Biological Process Annotations 2025 dataset.

putrescine biosynthetic process from arginine, via agmatine Gene Set

From GO Biological Process Annotations 2025

genes participating in the putrescine biosynthetic process from arginine, via agmatine biological process from the curated GO Biological Process Annotations 2025 dataset.

arginine biosynthetic process via ornithine Gene Set

From GO Biological Process Annotations 2025

genes participating in the arginine biosynthetic process via ornithine biological process from the curated GO Biological Process Annotations 2025 dataset.

arginine catabolic process to glutamate Gene Set

From GO Biological Process Annotations 2025

genes participating in the arginine catabolic process to glutamate biological process from the curated GO Biological Process Annotations 2025 dataset.

arginine catabolic process to proline via ornithine Gene Set

From GO Biological Process Annotations 2025

genes participating in the arginine catabolic process to proline via ornithine biological process from the curated GO Biological Process Annotations 2025 dataset.

peptidyl-arginine modification Gene Set

From GO Biological Process Annotations 2025

genes participating in the peptidyl-arginine modification biological process from the curated GO Biological Process Annotations 2025 dataset.

putrescine biosynthetic process from arginine Gene Set

From GO Biological Process Annotations 2025

genes participating in the putrescine biosynthetic process from arginine biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of arginine catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of arginine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

peptidyl-arginine omega-N-methylation Gene Set

From GO Biological Process Annotations 2025

genes participating in the peptidyl-arginine omega-N-methylation biological process from the curated GO Biological Process Annotations 2025 dataset.

response to L-arginine Gene Set

From GO Biological Process Annotations 2025

genes participating in the response to L-arginine biological process from the curated GO Biological Process Annotations 2025 dataset.

N(omega),N(omega)-dimethyl-L-arginine metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the N(omega),N(omega)-dimethyl-L-arginine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

arginine catabolic process to proline Gene Set

From GO Biological Process Annotations 2025

genes participating in the arginine catabolic process to proline biological process from the curated GO Biological Process Annotations 2025 dataset.

protein-arginine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the protein-arginine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

protein-arginine omega-N symmetric methyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the protein-arginine omega-N symmetric methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

L-arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

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

NAD+-protein-arginine ADP-ribosyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the NAD+-protein-arginine ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

arginine-tRNA ligase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the arginine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

protein-arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the protein-arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histone arginine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histone arginine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

protein-arginine omega-N asymmetric methyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the protein-arginine omega-N asymmetric methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

high-affinity L-arginine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the high-affinity L-arginine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

L-lysine:L-arginine antiporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the L-lysine:L-arginine antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

arginine decarboxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the arginine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

protein-arginine omega-N monomethyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the protein-arginine omega-N monomethyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histone arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histone arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histone H3R2 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histone H3R2 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histone H3R8 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histone H3R8 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histone H3R17 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histone H3R17 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histone H3R26 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histone H3R26 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

arginine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the arginine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histone H3 arginine deiminase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histone H3 arginine deiminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

L-arginine levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the L-arginine levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Arginine biosynthesis Gene Set

From KEGG Pathways 2026

proteins participating in the Arginine biosynthesis pathway from the KEGG Pathways 2026 dataset.

Arginine and proline metabolism Gene Set

From KEGG Pathways 2026

proteins participating in the Arginine and proline metabolism pathway from the KEGG Pathways 2026 dataset.

PERINDOPRIL ARGININE Gene Set

From DGIdb Drug Targets 2026

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

ARGININE Gene Set

From DGIdb Drug Targets 2026

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

ETRASIMOD ARGININE Gene Set

From DGIdb Drug Targets 2026

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

ARGININE BUTYRATE Gene Set

From DGIdb Drug Targets 2026

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

glycine cleavage complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the glycine cleavage complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

glycine-gated chloride channel complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the glycine-gated chloride channel complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

glycine reductase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

glycine cleavage complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

N-acetyl glycine cysteine amide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical N-acetyl glycine cysteine amide from the curated CTD Gene-Chemical Interactions dataset.

glycine-extended gastrin 17 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical glycine-extended gastrin 17 from the curated CTD Gene-Chemical Interactions dataset.

glutamyl-(2-(((3,4-dihydro-2,5,7,8-tetramethyl-2-(4,8,12-trimethyltridecyl)-2H-1-benzopyran-6-yl)oxy)carbonyl)-3-((2-(1H-indol-3-yl)ethyl)amino)-3-oxopropyl)-cysteinyl-glycine sodium salt Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical glutamyl-(2-(((3,4-dihydro-2,5,7,8-tetramethyl-2-(4,8,12-trimethyltridecyl)-2H-1-benzopyran-6-yl)oxy)carbonyl)-3-((2-(1H-indol-3-yl)ethyl)amino)-3-oxopropyl)-cysteinyl-glycine sodium salt from the curated CTD Gene-Chemical Interactions dataset.

Glycine Agents Gene Set

From CTD Gene-Chemical Interactions

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

glycine propionyl carnitine Gene Set

From CTD Gene-Chemical Interactions

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

casiopeina II-glycine Gene Set

From CTD Gene-Chemical Interactions

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

2-(2,3-dicarboxycyclopropyl)glycine Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 2-(2,3-dicarboxycyclopropyl)glycine from the curated CTD Gene-Chemical Interactions dataset.

beta-conglycinin protein, Glycine max Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical beta-conglycinin protein, Glycine max from the curated CTD Gene-Chemical Interactions dataset.

glycine encephalopathy Gene Set

From 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 Set

From 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.

N-[(4-HYDROXY-8-IODOISOQUINOLIN-3-YL)CARBONYL]GLYCINE Gene Set

From DrugBank Drug Targets

interacting proteins for the N-[(4-HYDROXY-8-IODOISOQUINOLIN-3-YL)CARBONYL]GLYCINE drug from the curated DrugBank Drug Targets dataset.

N-Pyridoxyl-Glycine-5-Monophosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the N-Pyridoxyl-Glycine-5-Monophosphate drug from the curated DrugBank Drug Targets dataset.

N-[(CYCLOHEXYLAMINO)CARBONYL]GLYCINE Gene Set

From DrugBank Drug Targets

interacting proteins for the N-[(CYCLOHEXYLAMINO)CARBONYL]GLYCINE drug from the curated DrugBank Drug Targets dataset.

Gamma-Glutamyl[S-(2-Iodobenzyl)Cysteinyl]Glycine Gene Set

From DrugBank Drug Targets

interacting proteins for the Gamma-Glutamyl[S-(2-Iodobenzyl)Cysteinyl]Glycine drug from the curated DrugBank Drug Targets dataset.

4-NITRO-BENZYLPHOSPHONOBUTANOYL-GLYCINE Gene Set

From DrugBank Drug Targets

interacting proteins for the 4-NITRO-BENZYLPHOSPHONOBUTANOYL-GLYCINE drug from the curated DrugBank Drug Targets dataset.

Glycine Gene Set

From DrugBank Drug Targets

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

N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE Gene Set

From DrugBank Drug Targets

interacting proteins for the N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE drug from the curated DrugBank Drug Targets dataset.

PARA-NITROPHENYLPHOSPHONOBUTANOYL-GLYCINE Gene Set

From DrugBank Drug Targets

interacting proteins for the PARA-NITROPHENYLPHOSPHONOBUTANOYL-GLYCINE drug from the curated DrugBank Drug Targets dataset.

N-(5,6-DIPHENYLFURO[2,3-D]PYRIMIDIN-4-YL)GLYCINE Gene Set

From DrugBank Drug Targets

interacting proteins for the N-(5,6-DIPHENYLFURO[2,3-D]PYRIMIDIN-4-YL)GLYCINE drug from the curated DrugBank Drug Targets dataset.

N-[Amino(Imino)Methyl]Glycine Gene Set

From DrugBank Drug Targets

interacting proteins for the N-[Amino(Imino)Methyl]Glycine drug from the curated DrugBank Drug Targets dataset.

glycine Gene Set

From GeneRIF Biological Term Annotations

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

peptidyl-glycine modification Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-glycine modification biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

n-terminal peptidyl-glycine n-myristoylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the n-terminal peptidyl-glycine n-myristoylation biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine receptor clustering Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine receptor clustering biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine biosynthetic process, by transamination of glyoxylate Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine biosynthetic process, by transamination of glyoxylate biological process from the curated GO Biological Process Annotations 2015 dataset.

l-threonine catabolic process to glycine Gene Set

From GO Biological Process Annotations 2015

genes participating in the l-threonine catabolic process to glycine biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine import Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine import biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine betaine biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine betaine biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine biosynthetic process from serine Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine biosynthetic process from serine biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine betaine biosynthetic process from choline Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine betaine biosynthetic process from choline biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine transport Gene Set

From GO Biological Process Annotations 2015

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

glycine catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine betaine metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine betaine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the glycine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

glycine cleavage complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the glycine cleavage complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

glycine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine hydroxymethyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine hydroxymethyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine n-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine n-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein-glycine ligase activity, initiating Gene Set

From GO Molecular Function Annotations 2015

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

extracellular-glycine-gated chloride channel activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the extracellular-glycine-gated chloride channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine binding Gene Set

From GO Molecular Function Annotations 2015

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

glycine n-choloyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine n-choloyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine-trna ligase activity Gene Set

From GO Molecular Function Annotations 2015

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

glycine dehydrogenase (decarboxylating) activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine dehydrogenase (decarboxylating) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

extracellular-glycine-gated ion channel activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the extracellular-glycine-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine n-benzoyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine n-benzoyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein-glycine ligase activity Gene Set

From GO Molecular Function Annotations 2015

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

glycine c-acetyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine c-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycine n-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycine n-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphoribosylamine-glycine ligase activity Gene Set

From GO Molecular Function Annotations 2015

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

(RS)-(tetrazol-5-yl)glycine Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (RS)-(tetrazol-5-yl)glycine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

[14C]glycine Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [14C]glycine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

[3H]glycine Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [3H]glycine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

glycine Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the glycine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

N-[(3a,5b,7a,12a)-3,7-dihydroxy-24-oxo-12-(sulfooxy)cholan-24-yl]-Glycine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the N-[(3a,5b,7a,12a)-3,7-dihydroxy-24-oxo-12-(sulfooxy)cholan-24-yl]-Glycine metabolite from the curated HMDB Metabolites of Enzymes dataset.

Chenodeoxycholic acid glycine conjugate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Chenodeoxycholic acid glycine conjugate metabolite from the curated HMDB Metabolites of Enzymes dataset.

N-Arachidonoyl glycine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the N-Arachidonoyl glycine metabolite from the curated HMDB Metabolites of Enzymes dataset.

N-[(3a,5b,7b)-7-hydroxy-24-oxo-3-(sulfooxy)cholan-24-yl]-Glycine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the N-[(3a,5b,7b)-7-hydroxy-24-oxo-3-(sulfooxy)cholan-24-yl]-Glycine metabolite from the curated HMDB Metabolites of Enzymes dataset.

N-[(3a,5b,7a)-3-hydroxy-24-oxo-7-(sulfooxy)cholan-24-yl]-Glycine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the N-[(3a,5b,7a)-3-hydroxy-24-oxo-7-(sulfooxy)cholan-24-yl]-Glycine metabolite from the curated HMDB Metabolites of Enzymes dataset.

N-[(3a,5b,7a,12a)-3,12-dihydroxy-24-oxo-7-(sulfooxy)cholan-24-yl]-Glycine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the N-[(3a,5b,7a,12a)-3,12-dihydroxy-24-oxo-7-(sulfooxy)cholan-24-yl]-Glycine metabolite from the curated HMDB Metabolites of Enzymes dataset.

Lithocholic acid glycine conjugate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Lithocholic acid glycine conjugate metabolite from the curated HMDB Metabolites of Enzymes dataset.

3a,7b,12a-Trihydroxyoxocholanyl-Glycine Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 3a,7b,12a-Trihydroxyoxocholanyl-Glycine metabolite from the curated HMDB Metabolites of Enzymes dataset.

Deoxycholic acid glycine conjugate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Deoxycholic acid glycine conjugate metabolite from the curated HMDB Metabolites of Enzymes dataset.

Glycine Gene Set

From HMDB Metabolites of Enzymes

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

abnormality of glycine metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of glycine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

glycine biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the glycine biosynthesis pathway from the HumanCyc Pathways dataset.

serine and glycine biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the serine and glycine biosynthesis pathway from the HumanCyc Pathways dataset.

glycine/serine biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the glycine/serine biosynthesis pathway from the HumanCyc Pathways dataset.

glycine cleavage Gene Set

From HumanCyc Pathways

proteins participating in the glycine cleavage pathway from the HumanCyc Pathways dataset.

glycine betaine degradation Gene Set

From HumanCyc Pathways

proteins participating in the glycine betaine degradation pathway from the HumanCyc Pathways dataset.

Glycine receptor alpha Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine receptor alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage system H-protein, subgroup Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage system H-protein, subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidyl-glycine alpha-amidating monooxygenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidyl-glycine alpha-amidating monooxygenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine receptor beta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine receptor beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage T-protein, C-terminal barrel domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage T-protein, C-terminal barrel domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine N-acyltransferase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine N-acyltransferase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GTP-binding protein TrmE/Glycine cleavage system T protein, domain 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GTP-binding protein TrmE/Glycine cleavage system T protein, domain 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ionotropic glutamate receptor, L-glutamate and glycine-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ionotropic glutamate receptor, L-glutamate and glycine-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine N-acyltransferase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine N-acyltransferase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine receptor alpha2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine receptor alpha2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine receptor alpha3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine receptor alpha3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine receptor alpha1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine receptor alpha1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage system P-protein, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage system P-protein, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage system T protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage system T protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, glycine-rich site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, glycine-rich site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage system H-protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage system H-protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Gamma-aminobutyric acid A receptor/Glycine receptor alpha Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Gamma-aminobutyric acid A receptor/Glycine receptor alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine N-acyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine N-acyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine/Sarcosine N-methyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine/Sarcosine N-methyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage T-protein-like, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage T-protein-like, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage system P protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage system P protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage T-protein/YgfZ, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage T-protein/YgfZ, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycine cleavage system P protein, homodimeric Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycine cleavage system P protein, homodimeric protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sodium:neurotransmitter symporter, glycine, type 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sodium:neurotransmitter symporter, glycine, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

glycine serine and threonine metabolism Gene Set

From KEGG Pathways

proteins participating in the glycine serine and threonine metabolism pathway from the KEGG Pathways dataset.

glycine encephalopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the glycine encephalopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

Serine glycine biosynthesis Gene Set

From PANTHER Pathways

proteins participating in the Serine glycine biosynthesis pathway from the PANTHER Pathways dataset.

Conjugation of salicylate with glycine Gene Set

From Reactome Pathways 2014

proteins participating in the Conjugation of salicylate with glycine pathway from the Reactome Pathways dataset.

Conjugation of benzoate with glycine Gene Set

From Reactome Pathways 2014

proteins participating in the Conjugation of benzoate with glycine pathway from the Reactome Pathways dataset.

Glycine Metabolism(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Glycine Metabolism(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Glycine Measurement Gene Set

From DisGeNET Gene-Phenotype Associations

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

N-terminal peptidyl-glycine N-myristoylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the N-terminal peptidyl-glycine N-myristoylation biological process from the curated GO Biological Process Annotations 2023 dataset.

cellular response to glycine Gene Set

From GO Biological Process Annotations 2023

genes participating in the cellular response to glycine biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine biosynthetic process, by transamination of glyoxylate Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine biosynthetic process, by transamination of glyoxylate biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine betaine transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine betaine transport biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine transport biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine import across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

L-threonine catabolic process to glycine Gene Set

From GO Biological Process Annotations 2023

genes participating in the L-threonine catabolic process to glycine biological process from the curated GO Biological Process Annotations 2023 dataset.

response to glycine Gene Set

From GO Biological Process Annotations 2023

genes participating in the response to glycine biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine import into mitochondrion Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine import into mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset.

N-terminal peptidyl-glycine methylation Gene Set

From GO Biological Process Annotations 2023

genes participating in the N-terminal peptidyl-glycine methylation biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine receptor clustering Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine receptor clustering biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine biosynthetic process from serine Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine biosynthetic process from serine biological process from the curated GO Biological Process Annotations 2023 dataset.

peptidyl-glycine modification Gene Set

From GO Biological Process Annotations 2023

genes participating in the peptidyl-glycine modification biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the glycine biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

glycine-gated chloride channel complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the glycine-gated chloride channel complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

protein-glycine ligase activity, initiating Gene Set

From GO Molecular Function Annotations 2023

genes performing the protein-glycine ligase activity, initiating molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

extracellularly glycine-gated chloride channel activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the extracellularly glycine-gated chloride channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine-gated chloride ion channel activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine-gated chloride ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine C-acetyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine C-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

phosphoribosylamine-glycine ligase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the phosphoribosylamine-glycine ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine dehydrogenase (decarboxylating) activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine dehydrogenase (decarboxylating) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine hydroxymethyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine hydroxymethyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine-tRNA ligase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

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

glycine:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

extracellularly glycine-gated ion channel activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the extracellularly glycine-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine N-choloyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine N-choloyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine N-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine N-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine N-benzoyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine N-benzoyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

NAD+-protein-C-terminal glycine ADP-ribosyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the NAD+-protein-C-terminal glycine ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine:2-oxoglutarate aminotransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine:2-oxoglutarate aminotransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycine:proton antiporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycine:proton antiporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

decreased circulating glycine level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased circulating glycine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased glycine level Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased glycine level Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased circulating glycine level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased circulating glycine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Glycine Gene Set

From MW Enzyme Metabolite Associations

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

Glycine metabolism Gene Set

From WikiPathways Pathways 2024

proteins participating in the Glycine metabolism pathway from the WikiPathways Pathways 2024 dataset.

Glycine metabolism including IMDs Gene Set

From WikiPathways Pathways 2024

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

Conjugation of benzoate with glycine Gene Set

From Reactome Pathways 2024

proteins participating in the Conjugation of benzoate with glycine pathway from the Reactome Pathways 2024 dataset.

Conjugation of salicylate with glycine Gene Set

From Reactome Pathways 2024

proteins participating in the Conjugation of salicylate with glycine pathway from the Reactome Pathways 2024 dataset.

Glycine degradation Gene Set

From Reactome Pathways 2024

proteins participating in the Glycine degradation pathway from the Reactome Pathways 2024 dataset.

Glyoxylate metabolism and glycine degradation Gene Set

From Reactome Pathways 2024

proteins participating in the Glyoxylate metabolism and glycine degradation pathway from the Reactome Pathways 2024 dataset.

N-terminal peptidyl-glycine N-myristoylation Gene Set

From GO Biological Process Annotations 2025

genes participating in the N-terminal peptidyl-glycine N-myristoylation biological process from the curated GO Biological Process Annotations 2025 dataset.

cellular response to glycine Gene Set

From GO Biological Process Annotations 2025

genes participating in the cellular response to glycine biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine biosynthetic process, by transamination of glyoxylate Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine biosynthetic process, by transamination of glyoxylate biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine betaine transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine betaine transport biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine transport biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine import across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

L-threonine catabolic process to glycine Gene Set

From GO Biological Process Annotations 2025

genes participating in the L-threonine catabolic process to glycine biological process from the curated GO Biological Process Annotations 2025 dataset.

response to glycine Gene Set

From GO Biological Process Annotations 2025

genes participating in the response to glycine biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine import into mitochondrion Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine import into mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset.

N-terminal peptidyl-glycine methylation Gene Set

From GO Biological Process Annotations 2025

genes participating in the N-terminal peptidyl-glycine methylation biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine biosynthetic process from serine Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine biosynthetic process from serine biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine receptor clustering Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine receptor clustering biological process from the curated GO Biological Process Annotations 2025 dataset.

peptidyl-glycine modification Gene Set

From GO Biological Process Annotations 2025

genes participating in the peptidyl-glycine modification biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the glycine biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

glycine-gated chloride channel complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the glycine-gated chloride channel complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

glycine cleavage complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the glycine cleavage complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

protein-glycine ligase activity, initiating Gene Set

From GO Molecular Function Annotations 2025

genes performing the protein-glycine ligase activity, initiating molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine-gated cation channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine-gated cation channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

extracellularly glycine-gated chloride channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the extracellularly glycine-gated chloride channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine-gated chloride ion channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine-gated chloride ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine C-acetyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine C-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

phosphoribosylamine-glycine ligase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the phosphoribosylamine-glycine ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine dehydrogenase (decarboxylating) activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine dehydrogenase (decarboxylating) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine hydroxymethyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine hydroxymethyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine-tRNA ligase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

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

glycine:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

extracellularly glycine-gated ion channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the extracellularly glycine-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine N-choloyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine N-choloyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine N-methyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine N-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine N-acyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine N-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

G protein-coupled glycine receptor activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the G protein-coupled glycine receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine N-benzoyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine N-benzoyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

NAD+-protein-C-terminal glycine ADP-ribosyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the NAD+-protein-C-terminal glycine ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine:2-oxoglutarate aminotransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine:2-oxoglutarate aminotransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycine:proton antiporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycine:proton antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Glycine encephalopathy Gene Set

From 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.

Glycine encephalopathy Gene Set

From 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.

glycine-gated chloride channel complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the glycine-gated chloride channel complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Glycine cleavage complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Glycine cleavage complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

glycine-tRNA ligase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Glycine cleavage complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

glycine-gated chloride channel complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Glycine reductase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Glycine encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycine encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical glycine encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical glycine encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycine levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Glycine levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Glycine, serine and threonine metabolism Gene Set

From KEGG Pathways 2026

proteins participating in the Glycine, serine and threonine metabolism pathway from the KEGG Pathways 2026 dataset.

GLYCINE Gene Set

From DGIdb Drug Targets 2026

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

(RS)-(TETRAZOL-5-YL)GLYCINE Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the (RS)-(TETRAZOL-5-YL)GLYCINE drug from theDGIdb Drug Targets 2026 dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acyl-CoA dehydrogenase family, member 9, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 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.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 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.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset.

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations 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.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

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

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

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

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

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

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

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

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset.

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

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

2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycosylphosphatidylinositol deficiency from the curated CTD Gene-Disease Associations dataset.

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset.

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset.

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

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

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset.

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-cystathionase deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

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

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset.

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

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

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor XIII Deficiency Gene Set

From CTD Gene-Disease Associations

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

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset.

MASP2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset.

2,4-Dienoyl-CoA Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Alpha-ketoglutarate dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor H Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset.

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

TRANSCOBALAMIN II DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Prolidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

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

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Vitamin E Deficiency Gene Set

From CTD Gene-Disease Associations

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

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset.

CD59 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset.

Myeloperoxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonyl-CoA Epimerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonyl-CoA Epimerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Cytochrome-c Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Hyaluronidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 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.

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Lysosomal beta-mannosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal beta-mannosidase deficiency from the curated CTD Gene-Disease Associations dataset.

Medium chain acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Familial apoceruloplasmin deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Sulfite oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.

Factor VII Deficiency Gene Set

From CTD Gene-Disease Associations

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

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

IRAK4 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset.

Butyrylcholinesterase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Butyrylcholinesterase deficiency from the curated CTD Gene-Disease Associations dataset.

Short chain Acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma aminobutyric acid transaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma aminobutyric acid transaminase 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.

Complement Component 6 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamate formiminotransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XII Deficiency Gene Set

From CTD Gene-Disease Associations

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

Aromatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset.

Urocanase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoserine Aminotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Glucosephosphate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial complex I deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset.

Split-hand/foot malformation with long bone deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

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

protein s deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

systemic primary carnitine deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

alpha 1-antitrypsin deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

gamma chain deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

pyruvate decarboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

serine deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

cerebral creatine deficiency syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

agat deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

prothrombin deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

complement factor i deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

glucosephosphate dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

protein c deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

dihydropyrimidine dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

biotinidase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

beta-ketothiolase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

ornithine carbamoyltransferase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

factor v deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

ornithine translocase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

cd40 ligand deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cd40 ligand deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

b cell deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease b cell deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores 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.

phgdh deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

succinic semialdehyde dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.