| Name |
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valine leucine and isoleucine degradation Gene SetFrom KEGG Pathways proteins participating in the valine leucine and isoleucine degradation pathway from the KEGG Pathways dataset. |
Valine, leucine and isoleucine degradation Gene SetFrom KEGG Pathways 2026 proteins participating in the Valine, leucine and isoleucine degradation pathway from the KEGG Pathways 2026 dataset. |
valine leucine and isoleucine biosynthesis Gene SetFrom KEGG Pathways proteins participating in the valine leucine and isoleucine biosynthesis pathway from the KEGG Pathways dataset. |
Leucine isoleucine and valine metabolism Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Leucine isoleucine and valine metabolism pathway from the WikiPathways Pathways 2024 dataset. |
Valine, leucine and isoleucine biosynthesis Gene SetFrom KEGG Pathways 2026 proteins participating in the Valine, leucine and isoleucine biosynthesis pathway from the KEGG Pathways 2026 dataset. |
Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate/phenylalanine/leucine/valine dehydrogenase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat and fibronectin type-III domain-containing protein 5 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat and fibronectin type-III domain-containing protein 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
N-(dibenzo[b,d]thiophen-3-ylsulfonyl)-L-valine Gene Setinteracting proteins for the N-(dibenzo[b,d]thiophen-3-ylsulfonyl)-L-valine drug from the curated DrugBank Drug Targets dataset. |
L-Valine Gene Setinteracting proteins for the L-Valine drug from the curated DrugBank Drug Targets dataset. |
valine Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term valine in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
valine metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the valine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
valine catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the valine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-valine transaminase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-valine transaminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
valine-trna ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the valine-trna ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
L-Valine Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Valine metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Valine-tRNA ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Valine-tRNA ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Valine biosynthesis Gene SetFrom PANTHER Pathways proteins participating in the Valine biosynthesis pathway from the PANTHER Pathways dataset. |
L-valine transmembrane transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the L-valine transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
valine transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the valine transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
valine catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the valine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
valine metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the valine metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
valine biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the valine biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-valine transaminase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-valine transaminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-valine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-valine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
valine-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the valine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
decreased circulating valine level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased circulating valine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Valine Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Valine metabolite from the MW Gene Metabolite Associations dataset. |
L-valine transmembrane transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-valine transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
valine transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the valine transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
valine catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the valine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
valine metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the valine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-valine biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-valine biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-valine-2-oxoglutarate transaminase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-valine-2-oxoglutarate transaminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-valine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-valine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
valine-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the valine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Branched-chain amino acid levels (Valine) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Branched-chain amino acid levels (Valine) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
1-Sarcosine-8-Isoleucine Angiotensin II Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 1-Sarcosine-8-Isoleucine Angiotensin II from the curated CTD Gene-Chemical Interactions dataset. |
N-[O-Phosphono-Pyridoxyl]-Isoleucine Gene Setinteracting proteins for the N-[O-Phosphono-Pyridoxyl]-Isoleucine drug from the curated DrugBank Drug Targets dataset. |
N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}-L-ISOLEUCINE Gene Setinteracting proteins for the N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}-L-ISOLEUCINE drug from the curated DrugBank Drug Targets dataset. |
L-Isoleucine Gene Setinteracting proteins for the L-Isoleucine drug from the curated DrugBank Drug Targets dataset. |
N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}-L-ISOLEUCYL-L-ISOLEUCINE Gene Setinteracting proteins for the N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}-L-ISOLEUCYL-L-ISOLEUCINE drug from the curated DrugBank Drug Targets dataset. |
amyloidotic vitreous opacities asparagine for isoleucine at position 84 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidotic vitreous opacities asparagine for isoleucine at position 84 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
isoleucine Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term isoleucine in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
isoleucine metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the isoleucine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
isoleucine catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the isoleucine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
isoleucine-trna ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the isoleucine-trna ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-isoleucine transaminase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-isoleucine transaminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
L-Isoleucine Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Isoleucine metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Isoleucine-tRNA ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Isoleucine-tRNA ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Isoleucine-tRNA ligase, type 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Isoleucine-tRNA ligase, type 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Isoleucine-tRNA ligase, type 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Isoleucine-tRNA ligase, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Isoleucine biosynthesis Gene SetFrom PANTHER Pathways proteins participating in the Isoleucine biosynthesis pathway from the PANTHER Pathways dataset. |
isoleucine transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the isoleucine transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
isoleucine catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the isoleucine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-isoleucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the L-isoleucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
isoleucine biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the isoleucine biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
isoleucine metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the isoleucine metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
isoleucine transmembrane transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the isoleucine transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-isoleucine transaminase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-isoleucine transaminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-isoleucine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-isoleucine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
isoleucine-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the isoleucine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
decreased circulating isoleucine level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased circulating isoleucine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Isoleucine Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Isoleucine metabolite from the MW Gene Metabolite Associations dataset. |
isoleucine transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the isoleucine transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
isoleucine catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the isoleucine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-isoleucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-isoleucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
isoleucine biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the isoleucine biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
isoleucine metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the isoleucine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
isoleucine transmembrane transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the isoleucine transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-isoleucine-2-oxoglutarate transaminase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-isoleucine-2-oxoglutarate transaminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-isoleucine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-isoleucine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
isoleucine-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the isoleucine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Branched-chain amino acid levels (Isoleucine) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Branched-chain amino acid levels (Isoleucine) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
degradation of the rar and rxr by the proteasome Gene SetFrom Biocarta Pathways proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset. |
thyroid hormone metabolism II (via conjugation and/or degradation) Gene SetFrom HumanCyc Pathways proteins participating in the thyroid hormone metabolism II (via conjugation and/or degradation) pathway from the HumanCyc Pathways dataset. |
noradrenaline and adrenaline degradation Gene SetFrom HumanCyc Pathways proteins participating in the noradrenaline and adrenaline degradation pathway from the HumanCyc Pathways dataset. |
spermine and spermidine degradation I Gene SetFrom HumanCyc Pathways proteins participating in the spermine and spermidine degradation I pathway from the HumanCyc Pathways dataset. |
1 and 2 methylnaphthalene degradation Gene SetFrom KEGG Pathways proteins participating in the 1 and 2 methylnaphthalene degradation pathway from the KEGG Pathways dataset. |
naphthalene and anthracene degradation Gene SetFrom KEGG Pathways proteins participating in the naphthalene and anthracene degradation pathway from the KEGG Pathways dataset. |
limonene and pinene degradation Gene SetFrom KEGG Pathways proteins participating in the limonene and pinene degradation pathway from the KEGG Pathways dataset. |
synthesis and degradation of ketone bodies Gene SetFrom KEGG Pathways proteins participating in the synthesis and degradation of ketone bodies pathway from the KEGG Pathways dataset. |
Hyaluronan uptake and degradation Gene Setproteins participating in the Hyaluronan uptake and degradation pathway from the Reactome Pathways dataset. |
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins Gene Setproteins participating in the Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins pathway from the Reactome Pathways dataset. |
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Gene Setproteins participating in the APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 pathway from the Reactome Pathways dataset. |
Degradation of cysteine and homocysteine Gene Setproteins participating in the Degradation of cysteine and homocysteine pathway from the Reactome Pathways dataset. |
GABA synthesis, release, reuptake and degradation Gene Setproteins participating in the GABA synthesis, release, reuptake and degradation pathway from the Reactome Pathways dataset. |
Synthesis and Degradation of Ketone Bodies(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Synthesis and Degradation of Ketone Bodies(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
Synthesis and Degradation of Ketone Bodies(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Synthesis and Degradation of Ketone Bodies(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
Gamma glutamyl cycle for the biosynthesis and degradation of glutathione including diseases Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Gamma glutamyl cycle for the biosynthesis and degradation of glutathione including diseases pathway from the WikiPathways Pathways 2024 dataset. |
Glycogen synthesis and degradation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Glycogen synthesis and degradation pathway from the WikiPathways Pathways 2024 dataset. |
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Gene Setproteins participating in the APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 pathway from the Reactome Pathways 2024 dataset. |
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins Gene Setproteins participating in the Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins pathway from the Reactome Pathways 2024 dataset. |
Degradation of cysteine and homocysteine Gene Setproteins participating in the Degradation of cysteine and homocysteine pathway from the Reactome Pathways 2024 dataset. |
GABA synthesis, release, reuptake and degradation Gene Setproteins participating in the GABA synthesis, release, reuptake and degradation pathway from the Reactome Pathways 2024 dataset. |
GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 Gene Setproteins participating in the GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 pathway from the Reactome Pathways 2024 dataset. |
Glyoxylate metabolism and glycine degradation Gene Setproteins participating in the Glyoxylate metabolism and glycine degradation pathway from the Reactome Pathways 2024 dataset. |
Hyaluronan uptake and degradation Gene Setproteins participating in the Hyaluronan uptake and degradation pathway from the Reactome Pathways 2024 dataset. |
Regulation of TP53 Expression and Degradation Gene Setproteins participating in the Regulation of TP53 Expression and Degradation pathway from the Reactome Pathways 2024 dataset. |
VLDLR internalisation and degradation Gene Setproteins participating in the VLDLR internalisation and degradation pathway from the Reactome Pathways 2024 dataset. |
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
N-acetyl-L-leucine-3085 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the N-acetyl-L-leucine-3085 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
N-acetyl-L-leucine-4622 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the N-acetyl-L-leucine-4622 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
N-acetyl-L-leucine-5683 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the N-acetyl-L-leucine-5683 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
N-acetyl-L-leucine-6462 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the N-acetyl-L-leucine-6462 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
Enkephalin, Leucine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Enkephalin, Leucine from the curated CTD Gene-Chemical Interactions dataset. |
N,N-diallyl-tyrosyl-alpha-aminoisobutyric acid-phenylalanyl-leucine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N,N-diallyl-tyrosyl-alpha-aminoisobutyric acid-phenylalanyl-leucine from the curated CTD Gene-Chemical Interactions dataset. |
hippuryl-histidyl-leucine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical hippuryl-histidyl-leucine from the curated CTD Gene-Chemical Interactions dataset. |
carbobenzoxy-leucyl-leucyl-leucine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical carbobenzoxy-leucyl-leucyl-leucine from the curated CTD Gene-Chemical Interactions dataset. |
leucine sarcolysine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical leucine sarcolysine from the curated CTD Gene-Chemical Interactions dataset. |
Enkephalin, Leucine-2-Alanine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Enkephalin, Leucine-2-Alanine from the curated CTD Gene-Chemical Interactions dataset. |
benzyloxycarbonylleucyl-leucyl-leucine aldehyde Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical benzyloxycarbonylleucyl-leucyl-leucine aldehyde from the curated CTD Gene-Chemical Interactions dataset. |
Hypoglycemia, leucine-induced Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoglycemia, leucine-induced from the curated CTD Gene-Disease Associations dataset. |
N-(biphenyl-4-ylsulfonyl)-D-leucine Gene Setinteracting proteins for the N-(biphenyl-4-ylsulfonyl)-D-leucine drug from the curated DrugBank Drug Targets dataset. |
(3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Leucine Gene Setinteracting proteins for the (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Leucine drug from the curated DrugBank Drug Targets dataset. |
D-Leucine Gene Setinteracting proteins for the D-Leucine drug from the curated DrugBank Drug Targets dataset. |
Leucine - Reduced Carbonyl Gene Setinteracting proteins for the Leucine - Reduced Carbonyl drug from the curated DrugBank Drug Targets dataset. |
(4s)-5-Fluoro-L-Leucine Gene Setinteracting proteins for the (4s)-5-Fluoro-L-Leucine drug from the curated DrugBank Drug Targets dataset. |
Furoyl-Leucine Gene Setinteracting proteins for the Furoyl-Leucine drug from the curated DrugBank Drug Targets dataset. |
Leucine Phosphonic Acid Gene Setinteracting proteins for the Leucine Phosphonic Acid drug from the curated DrugBank Drug Targets dataset. |
L-Leucine Gene Setinteracting proteins for the L-Leucine drug from the curated DrugBank Drug Targets dataset. |
leucine Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term leucine in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
response to leucine Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to leucine biological process from the curated GO Biological Process Annotations 2015 dataset. |
cellular response to leucine Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cellular response to leucine biological process from the curated GO Biological Process Annotations 2015 dataset. |
leucine import Gene SetFrom GO Biological Process Annotations 2015 genes participating in the leucine import biological process from the curated GO Biological Process Annotations 2015 dataset. |
leucine catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the leucine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
leucine metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the leucine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
leucine transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the leucine transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
leucine zipper domain binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the leucine zipper domain binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-leucine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-leucine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
leucine binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the leucine binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
leucine-trna ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the leucine-trna ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-leucine transaminase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-leucine transaminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
FMOC-L-Leucine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the FMOC-L-Leucine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
L-Leucine Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Leucine metabolite from the curated HMDB Metabolites of Enzymes dataset. |
abnormality of leucine metabolism Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of leucine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Leucine-rich repeat-containing protein 4 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat flightless-interacting protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat flightless-interacting protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine zipper protein 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine zipper protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine zipper protein 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine zipper protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine aminopeptidase/peptidase B Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine aminopeptidase/peptidase B protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat, ribonuclease inhibitor subtype Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat, ribonuclease inhibitor subtype protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
FAST kinase leucine-rich Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the FAST kinase leucine-rich protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Neural retina-specific leucine zipper protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Neural retina-specific leucine zipper protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine rich repeat 5 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine rich repeat 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine carboxyl methyltransferase 1, LCMT1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine carboxyl methyltransferase 1, LCMT1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing protein 16C Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 16C protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine carboxyl methyltransferase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine carboxyl methyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing protein 37A/B like Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 37A/B like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing protein 4B Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 4B protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing protein 4C Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 4C protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamine-Leucine-Glutamine, QLQ Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamine-Leucine-Glutamine, QLQ protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Centromere protein Cenp-F, leucine-rich repeat-containing domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Centromere protein Cenp-F, leucine-rich repeat-containing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Basic-leucine zipper domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Basic-leucine zipper domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine zipper transcription factor-like protein 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine zipper transcription factor-like protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing protein 16B Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 16B protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Basic leucine zipper transcriptional factor ATF-like 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Basic leucine zipper transcriptional factor ATF-like 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Basic leucine zipper transcriptional factor ATF-like 3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Basic leucine zipper transcriptional factor ATF-like 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Basic leucine zipper domain, Maf-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Basic leucine zipper domain, Maf-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
AATF leucine zipper-containing domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the AATF leucine zipper-containing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing 41 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing 41 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing protein 8, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 8, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptidase M17, leucine aminopeptidase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase M17, leucine aminopeptidase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Basic leucine zipper transcriptional factor ATF-like Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Basic leucine zipper transcriptional factor ATF-like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Small leucine-rich proteoglycan, class I, decorin/asporin/byglycan Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Small leucine-rich proteoglycan, class I, decorin/asporin/byglycan protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat, typical subtype Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat, typical subtype protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich glioma-inactivated , EPTP repeat Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich glioma-inactivated , EPTP repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing protein 16A Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing protein 16A protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat, cysteine-containing subtype Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat, cysteine-containing subtype protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine rich repeat 4 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine rich repeat 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine zipper putative tumour suppressor 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine zipper putative tumour suppressor 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Rogdi, leucine zipper-containing protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Rogdi, leucine zipper-containing protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Spermatogenic leucine zipper protein 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Spermatogenic leucine zipper protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-rich repeat-containing N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-rich repeat-containing N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine zipper, Myc Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine zipper, Myc protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leucine-tRNA ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leucine-tRNA ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
PRAME family/Leucine-rich repeat-containing protein 14 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the PRAME family/Leucine-rich repeat-containing protein 14 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
hypoglycemia of infancy, leucine-sensitive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoglycemia of infancy, leucine-sensitive phenotype from the curated OMIM Gene-Disease Associations dataset. |
Leucine biosynthesis Gene SetFrom PANTHER Pathways proteins participating in the Leucine biosynthesis pathway from the PANTHER Pathways dataset. |
leucine Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term leucine in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways Gene Setproteins participating in the Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway from the Reactome Pathways dataset. |
Leucine Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Leucine Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
negative regulation of leucine import Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of leucine import biological process from the curated GO Biological Process Annotations 2023 dataset. |
leucine transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the leucine transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
leucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the leucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-leucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the L-leucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
cellular response to leucine starvation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cellular response to leucine starvation biological process from the curated GO Biological Process Annotations 2023 dataset. |
leucine catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the leucine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
cellular response to leucine Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cellular response to leucine biological process from the curated GO Biological Process Annotations 2023 dataset. |
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
leucine biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the leucine biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of leucine import Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of leucine import biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of leucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of leucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
leucine metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the leucine metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
response to leucine Gene SetFrom GO Biological Process Annotations 2023 genes participating in the response to leucine biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-leucine transaminase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-leucine transaminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
leucine zipper domain binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the leucine zipper domain binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-leucine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-leucine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
leucine binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the leucine binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
leucine-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the leucine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
protein C-terminal leucine carboxyl O-methyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the protein C-terminal leucine carboxyl O-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
decreased leucine level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased leucine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased circulating leucine level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased circulating leucine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased leucine level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased leucine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Leucine Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Leucine metabolite from the MW Gene Metabolite Associations dataset. |
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways Gene Setproteins participating in the Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway from the Reactome Pathways 2024 dataset. |
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of L-leucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of L-leucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-leucine transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-leucine transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-leucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-leucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
cellular response to leucine starvation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cellular response to leucine starvation biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-leucine catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-leucine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
cellular response to L-leucine Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cellular response to L-leucine biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-leucine biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-leucine biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of L-leucine import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of L-leucine import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-leucine metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-leucine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
response to L-leucine Gene SetFrom GO Biological Process Annotations 2025 genes participating in the response to L-leucine biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-leucine-2-oxoglutarate transaminase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-leucine-2-oxoglutarate transaminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
leucine zipper domain binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the leucine zipper domain binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-leucine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-leucine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
leucine-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the leucine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein C-terminal leucine carboxyl O-methyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein C-terminal leucine carboxyl O-methyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
leucine-sensitive hypoglycemia of infancy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease leucine-sensitive hypoglycemia of infancy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Leucine-induced hypoglycemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leucine-induced hypoglycemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Branched-chain amino acid levels (Leucine) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Branched-chain amino acid levels (Leucine) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
N- (9-FLUORENYLMETHOXYCARBONYL)-L-LEUCINE Gene Setinteracting proteins for the N- (9-FLUORENYLMETHOXYCARBONYL)-L-LEUCINE drug from theDGIdb Drug Targets 2026 dataset. |
LEUCINE Gene Setinteracting proteins for the LEUCINE drug from theDGIdb Drug Targets 2026 dataset. |
FMOC-L-LEUCINE Gene Setinteracting proteins for the FMOC-L-LEUCINE drug from theDGIdb Drug Targets 2026 dataset. |
D-LEUCINE Gene Setinteracting proteins for the D-LEUCINE drug from theDGIdb Drug Targets 2026 dataset. |
er associated degradation (erad) pathway Gene SetFrom Biocarta Pathways proteins participating in the er associated degradation (erad) pathway pathway from the Biocarta Pathways dataset. |
dna degradation, necrotic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dna degradation, necrotic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
degradation Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term degradation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
negative regulation of cyclin-dependent protein serine/threonine kinase by cyclin degradation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of cyclin-dependent protein serine/threonine kinase by cyclin degradation biological process from the curated GO Biological Process Annotations 2015 dataset. |
mitochondrion degradation by induced vacuole formation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the mitochondrion degradation by induced vacuole formation biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of mitochondrion degradation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of mitochondrion degradation biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of mitochondrion degradation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of mitochondrion degradation biological process from the curated GO Biological Process Annotations 2015 dataset. |
mitochondrion degradation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the mitochondrion degradation biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of mitochondrion degradation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of mitochondrion degradation biological process from the curated GO Biological Process Annotations 2015 dataset. |
peroxisome degradation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the peroxisome degradation biological process from the curated GO Biological Process Annotations 2015 dataset. |
DNA Degradation, Necrotic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the DNA Degradation, Necrotic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
α-tocopherol degradation Gene SetFrom HumanCyc Pathways proteins participating in the α-tocopherol degradation pathway from the HumanCyc Pathways dataset. |
sorbitol degradation I Gene SetFrom HumanCyc Pathways proteins participating in the sorbitol degradation I pathway from the HumanCyc Pathways dataset. |
methylglyoxal degradation III Gene SetFrom HumanCyc Pathways proteins participating in the methylglyoxal degradation III pathway from the HumanCyc Pathways dataset. |
tryptophan degradation Gene SetFrom HumanCyc Pathways proteins participating in the tryptophan degradation pathway from the HumanCyc Pathways dataset. |
methylglyoxal degradation VI Gene SetFrom HumanCyc Pathways proteins participating in the methylglyoxal degradation VI pathway from the HumanCyc Pathways dataset. |
melatonin degradation II Gene SetFrom HumanCyc Pathways proteins participating in the melatonin degradation II pathway from the HumanCyc Pathways dataset. |
L-serine degradation Gene SetFrom HumanCyc Pathways proteins participating in the L-serine degradation pathway from the HumanCyc Pathways dataset. |
alanine biosynthesis/degradation Gene SetFrom HumanCyc Pathways proteins participating in the alanine biosynthesis/degradation pathway from the HumanCyc Pathways dataset. |
N-acetylglucosamine degradation I Gene SetFrom HumanCyc Pathways proteins participating in the N-acetylglucosamine degradation I pathway from the HumanCyc Pathways dataset. |
glutaryl-CoA degradation Gene SetFrom HumanCyc Pathways proteins participating in the glutaryl-CoA degradation pathway from the HumanCyc Pathways dataset. |
asparagine degradation Gene SetFrom HumanCyc Pathways proteins participating in the asparagine degradation pathway from the HumanCyc Pathways dataset. |
ethanol degradation IV Gene SetFrom HumanCyc Pathways proteins participating in the ethanol degradation IV pathway from the HumanCyc Pathways dataset. |
tyrosine degradation Gene SetFrom HumanCyc Pathways proteins participating in the tyrosine degradation pathway from the HumanCyc Pathways dataset. |
glutamate biosynthesis/degradation Gene SetFrom HumanCyc Pathways proteins participating in the glutamate biosynthesis/degradation pathway from the HumanCyc Pathways dataset. |
superoxide radicals degradation Gene SetFrom HumanCyc Pathways proteins participating in the superoxide radicals degradation pathway from the HumanCyc Pathways dataset. |
phenylethylamine degradation I Gene SetFrom HumanCyc Pathways proteins participating in the phenylethylamine degradation I pathway from the HumanCyc Pathways dataset. |
putrescine degradation III Gene SetFrom HumanCyc Pathways proteins participating in the putrescine degradation III pathway from the HumanCyc Pathways dataset. |
S-methyl-5-thio-α-D-ribose 1-phosphate degradation Gene SetFrom HumanCyc Pathways proteins participating in the S-methyl-5-thio-α-D-ribose 1-phosphate degradation pathway from the HumanCyc Pathways dataset. |
3-phosphoinositide degradation Gene SetFrom HumanCyc Pathways proteins participating in the 3-phosphoinositide degradation pathway from the HumanCyc Pathways dataset. |
methionine degradation Gene SetFrom HumanCyc Pathways proteins participating in the methionine degradation pathway from the HumanCyc Pathways dataset. |
trehalose degradation Gene SetFrom HumanCyc Pathways proteins participating in the trehalose degradation pathway from the HumanCyc Pathways dataset. |
S-methyl-5'-thioadenosine degradation Gene SetFrom HumanCyc Pathways proteins participating in the S-methyl-5'-thioadenosine degradation pathway from the HumanCyc Pathways dataset. |
tryptophan degradation X (mammalian, via tryptamine) Gene SetFrom HumanCyc Pathways proteins participating in the tryptophan degradation X (mammalian, via tryptamine) pathway from the HumanCyc Pathways dataset. |
lactose degradation III Gene SetFrom HumanCyc Pathways proteins participating in the lactose degradation III pathway from the HumanCyc Pathways dataset. |
phenylalanine degradation/tyrosine biosynthesis Gene SetFrom HumanCyc Pathways proteins participating in the phenylalanine degradation/tyrosine biosynthesis pathway from the HumanCyc Pathways dataset. |
L-cysteine degradation II Gene SetFrom HumanCyc Pathways proteins participating in the L-cysteine degradation II pathway from the HumanCyc Pathways dataset. |
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde Gene SetFrom HumanCyc Pathways proteins participating in the tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde pathway from the HumanCyc Pathways dataset. |
ethanol degradation II Gene SetFrom HumanCyc Pathways proteins participating in the ethanol degradation II pathway from the HumanCyc Pathways dataset. |
uracil degradation Gene SetFrom HumanCyc Pathways proteins participating in the uracil degradation pathway from the HumanCyc Pathways dataset. |
L-kynurenine degradation Gene SetFrom HumanCyc Pathways proteins participating in the L-kynurenine degradation pathway from the HumanCyc Pathways dataset. |
threonine degradation Gene SetFrom HumanCyc Pathways proteins participating in the threonine degradation pathway from the HumanCyc Pathways dataset. |
D-myo-inositol (1,4,5)-trisphosphate degradation Gene SetFrom HumanCyc Pathways proteins participating in the D-myo-inositol (1,4,5)-trisphosphate degradation pathway from the HumanCyc Pathways dataset. |
cysteine biosynthesis/homocysteine degradation (trans-sulfuration) Gene SetFrom HumanCyc Pathways proteins participating in the cysteine biosynthesis/homocysteine degradation (trans-sulfuration) pathway from the HumanCyc Pathways dataset. |
superpathway of choline degradation to L-serine Gene SetFrom HumanCyc Pathways proteins participating in the superpathway of choline degradation to L-serine pathway from the HumanCyc Pathways dataset. |
serotonin degradation Gene SetFrom HumanCyc Pathways proteins participating in the serotonin degradation pathway from the HumanCyc Pathways dataset. |
methylglyoxal degradation I Gene SetFrom HumanCyc Pathways proteins participating in the methylglyoxal degradation I pathway from the HumanCyc Pathways dataset. |
dermatan sulfate degradation (metazoa) Gene SetFrom HumanCyc Pathways proteins participating in the dermatan sulfate degradation (metazoa) pathway from the HumanCyc Pathways dataset. |
guanosine nucleotides degradation Gene SetFrom HumanCyc Pathways proteins participating in the guanosine nucleotides degradation pathway from the HumanCyc Pathways dataset. |
pyrimidine deoxyribonucleosides degradation Gene SetFrom HumanCyc Pathways proteins participating in the pyrimidine deoxyribonucleosides degradation pathway from the HumanCyc Pathways dataset. |
lysine degradation II (pipecolate pathway) Gene SetFrom HumanCyc Pathways proteins participating in the lysine degradation II (pipecolate pathway) pathway from the HumanCyc Pathways dataset. |
L-dopa degradation Gene SetFrom HumanCyc Pathways proteins participating in the L-dopa degradation pathway from the HumanCyc Pathways dataset. |
histamine degradation Gene SetFrom HumanCyc Pathways proteins participating in the histamine degradation pathway from the HumanCyc Pathways dataset. |
2'-deoxy-α-D-ribose 1-phosphate degradation Gene SetFrom HumanCyc Pathways proteins participating in the 2'-deoxy-α-D-ribose 1-phosphate degradation pathway from the HumanCyc Pathways dataset. |
pyrimidine ribonucleosides degradation Gene SetFrom HumanCyc Pathways proteins participating in the pyrimidine ribonucleosides degradation pathway from the HumanCyc Pathways dataset. |
D-mannose degradation Gene SetFrom HumanCyc Pathways proteins participating in the D-mannose degradation pathway from the HumanCyc Pathways dataset. |
purine nucleotides degradation Gene SetFrom HumanCyc Pathways proteins participating in the purine nucleotides degradation pathway from the HumanCyc Pathways dataset. |
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA Gene SetFrom HumanCyc Pathways proteins participating in the 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA pathway from the HumanCyc Pathways dataset. |
superpathway of methionine degradation Gene SetFrom HumanCyc Pathways proteins participating in the superpathway of methionine degradation pathway from the HumanCyc Pathways dataset. |
4-aminobutyrate degradation Gene SetFrom HumanCyc Pathways proteins participating in the 4-aminobutyrate degradation pathway from the HumanCyc Pathways dataset. |
anandamide degradation Gene SetFrom HumanCyc Pathways proteins participating in the anandamide degradation pathway from the HumanCyc Pathways dataset. |
glycine betaine degradation Gene SetFrom HumanCyc Pathways proteins participating in the glycine betaine degradation pathway from the HumanCyc Pathways dataset. |
glycerol degradation Gene SetFrom HumanCyc Pathways proteins participating in the glycerol degradation pathway from the HumanCyc Pathways dataset. |
phytol degradation Gene SetFrom HumanCyc Pathways proteins participating in the phytol degradation pathway from the HumanCyc Pathways dataset. |
dopamine degradation Gene SetFrom HumanCyc Pathways proteins participating in the dopamine degradation pathway from the HumanCyc Pathways dataset. |
L-cysteine degradation I Gene SetFrom HumanCyc Pathways proteins participating in the L-cysteine degradation I pathway from the HumanCyc Pathways dataset. |
histidine degradation Gene SetFrom HumanCyc Pathways proteins participating in the histidine degradation pathway from the HumanCyc Pathways dataset. |
β-alanine degradation Gene SetFrom HumanCyc Pathways proteins participating in the β-alanine degradation pathway from the HumanCyc Pathways dataset. |
sucrose degradation Gene SetFrom HumanCyc Pathways proteins participating in the sucrose degradation pathway from the HumanCyc Pathways dataset. |
D-galactose degradation V (Leloir pathway) Gene SetFrom HumanCyc Pathways proteins participating in the D-galactose degradation V (Leloir pathway) pathway from the HumanCyc Pathways dataset. |
urate biosynthesis/inosine 5'-phosphate degradation Gene SetFrom HumanCyc Pathways proteins participating in the urate biosynthesis/inosine 5'-phosphate degradation pathway from the HumanCyc Pathways dataset. |
glutamine degradation/glutamate biosynthesis Gene SetFrom HumanCyc Pathways proteins participating in the glutamine degradation/glutamate biosynthesis pathway from the HumanCyc Pathways dataset. |
purine deoxyribonucleosides degradation Gene SetFrom HumanCyc Pathways proteins participating in the purine deoxyribonucleosides degradation pathway from the HumanCyc Pathways dataset. |
lysine degradation I (saccharopine pathway) Gene SetFrom HumanCyc Pathways proteins participating in the lysine degradation I (saccharopine pathway) pathway from the HumanCyc Pathways dataset. |
oxidative ethanol degradation III Gene SetFrom HumanCyc Pathways proteins participating in the oxidative ethanol degradation III pathway from the HumanCyc Pathways dataset. |
4-hydroxyproline degradation Gene SetFrom HumanCyc Pathways proteins participating in the 4-hydroxyproline degradation pathway from the HumanCyc Pathways dataset. |
triacylglycerol degradation Gene SetFrom HumanCyc Pathways proteins participating in the triacylglycerol degradation pathway from the HumanCyc Pathways dataset. |
purine ribonucleosides degradation to ribose-1-phosphate Gene SetFrom HumanCyc Pathways proteins participating in the purine ribonucleosides degradation to ribose-1-phosphate pathway from the HumanCyc Pathways dataset. |
heme degradation Gene SetFrom HumanCyc Pathways proteins participating in the heme degradation pathway from the HumanCyc Pathways dataset. |
propionyl-CoA degradation Gene SetFrom HumanCyc Pathways proteins participating in the propionyl-CoA degradation pathway from the HumanCyc Pathways dataset. |
proline degradation Gene SetFrom HumanCyc Pathways proteins participating in the proline degradation pathway from the HumanCyc Pathways dataset. |
2-oxobutanoate degradation Gene SetFrom HumanCyc Pathways proteins participating in the 2-oxobutanoate degradation pathway from the HumanCyc Pathways dataset. |
chondroitin sulfate degradation (metazoa) Gene SetFrom HumanCyc Pathways proteins participating in the chondroitin sulfate degradation (metazoa) pathway from the HumanCyc Pathways dataset. |
D-glucuronate degradation Gene SetFrom HumanCyc Pathways proteins participating in the D-glucuronate degradation pathway from the HumanCyc Pathways dataset. |
N-acetylglucosamine degradation II Gene SetFrom HumanCyc Pathways proteins participating in the N-acetylglucosamine degradation II pathway from the HumanCyc Pathways dataset. |
adenosine nucleotides degradation Gene SetFrom HumanCyc Pathways proteins participating in the adenosine nucleotides degradation pathway from the HumanCyc Pathways dataset. |
thymine degradation Gene SetFrom HumanCyc Pathways proteins participating in the thymine degradation pathway from the HumanCyc Pathways dataset. |
choline degradation Gene SetFrom HumanCyc Pathways proteins participating in the choline degradation pathway from the HumanCyc Pathways dataset. |
Phenylacetic acid degradation-related domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenylacetic acid degradation-related domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquitin fusion degradation protein UFD1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin fusion degradation protein UFD1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Vacuolar import/degradation protein Vid24 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Vacuolar import/degradation protein Vid24 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
atrazine degradation Gene SetFrom KEGG Pathways proteins participating in the atrazine degradation pathway from the KEGG Pathways dataset. |
3 chloroacrylic acid degradation Gene SetFrom KEGG Pathways proteins participating in the 3 chloroacrylic acid degradation pathway from the KEGG Pathways dataset. |
caprolactam degradation Gene SetFrom KEGG Pathways proteins participating in the caprolactam degradation pathway from the KEGG Pathways dataset. |
ethylbenzene degradation Gene SetFrom KEGG Pathways proteins participating in the ethylbenzene degradation pathway from the KEGG Pathways dataset. |
gamma hexachlorocyclohexane degradation Gene SetFrom KEGG Pathways proteins participating in the gamma hexachlorocyclohexane degradation pathway from the KEGG Pathways dataset. |
bisphenol a degradation Gene SetFrom KEGG Pathways proteins participating in the bisphenol a degradation pathway from the KEGG Pathways dataset. |
1,4 dichlorobenzene degradation Gene SetFrom KEGG Pathways proteins participating in the 1,4 dichlorobenzene degradation pathway from the KEGG Pathways dataset. |
benzoate degradation via coa ligation Gene SetFrom KEGG Pathways proteins participating in the benzoate degradation via coa ligation pathway from the KEGG Pathways dataset. |
tetrachloroethene degradation Gene SetFrom KEGG Pathways proteins participating in the tetrachloroethene degradation pathway from the KEGG Pathways dataset. |
n glycan degradation Gene SetFrom KEGG Pathways proteins participating in the n glycan degradation pathway from the KEGG Pathways dataset. |
styrene degradation Gene SetFrom KEGG Pathways proteins participating in the styrene degradation pathway from the KEGG Pathways dataset. |
lysine degradation Gene SetFrom KEGG Pathways proteins participating in the lysine degradation pathway from the KEGG Pathways dataset. |
glycosaminoglycan degradation Gene SetFrom KEGG Pathways proteins participating in the glycosaminoglycan degradation pathway from the KEGG Pathways dataset. |
glycan structures degradation Gene SetFrom KEGG Pathways proteins participating in the glycan structures degradation pathway from the KEGG Pathways dataset. |
Ornithine degradation Gene SetFrom PANTHER Pathways proteins participating in the Ornithine degradation pathway from the PANTHER Pathways dataset. |
Ascorbate degradation Gene SetFrom PANTHER Pathways proteins participating in the Ascorbate degradation pathway from the PANTHER Pathways dataset. |
Phenylethylamine degradation Gene SetFrom PANTHER Pathways proteins participating in the Phenylethylamine degradation pathway from the PANTHER Pathways dataset. |
Allantoin degradation Gene SetFrom PANTHER Pathways proteins participating in the Allantoin degradation pathway from the PANTHER Pathways dataset. |
Aminobutyrate degradation Gene SetFrom PANTHER Pathways proteins participating in the Aminobutyrate degradation pathway from the PANTHER Pathways dataset. |
degradation Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term degradation in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Degradation of beta catenin Gene SetFrom PID Pathways proteins participating in the Degradation of beta catenin pathway from the PID Pathways dataset. |
SCF-beta-TrCP mediated degradation of Emi1 Gene Setproteins participating in the SCF-beta-TrCP mediated degradation of Emi1 pathway from the Reactome Pathways dataset. |
Degradation of GABA Gene Setproteins participating in the Degradation of GABA pathway from the Reactome Pathways dataset. |
HS-GAG degradation Gene Setproteins participating in the HS-GAG degradation pathway from the Reactome Pathways dataset. |
Gap junction degradation Gene Setproteins participating in the Gap junction degradation pathway from the Reactome Pathways dataset. |
Ubiquitin-dependent degradation of Cyclin D1 Gene Setproteins participating in the Ubiquitin-dependent degradation of Cyclin D1 pathway from the Reactome Pathways dataset. |
Biosynthesis of A2E, implicated in retinal degradation Gene Setproteins participating in the Biosynthesis of A2E, implicated in retinal degradation pathway from the Reactome Pathways dataset. |
APC/C:Cdc20 mediated degradation of mitotic proteins Gene Setproteins participating in the APC/C:Cdc20 mediated degradation of mitotic proteins pathway from the Reactome Pathways dataset. |
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint Gene Setproteins participating in the APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint pathway from the Reactome Pathways dataset. |
Enzymatic degradation of Dopamine by monoamine oxidase Gene Setproteins participating in the Enzymatic degradation of Dopamine by monoamine oxidase pathway from the Reactome Pathways dataset. |
Enzymatic degradation of dopamine by COMT Gene Setproteins participating in the Enzymatic degradation of dopamine by COMT pathway from the Reactome Pathways dataset. |
APC-Cdc20 mediated degradation of Nek2A Gene Setproteins participating in the APC-Cdc20 mediated degradation of Nek2A pathway from the Reactome Pathways dataset. |
degradation of DVL Gene Setproteins participating in the degradation of DVL pathway from the Reactome Pathways dataset. |
Keratan sulfate degradation Gene Setproteins participating in the Keratan sulfate degradation pathway from the Reactome Pathways dataset. |
degradation of AXIN Gene Setproteins participating in the degradation of AXIN pathway from the Reactome Pathways dataset. |
Degradation of GLI2 by the proteasome Gene Setproteins participating in the Degradation of GLI2 by the proteasome pathway from the Reactome Pathways dataset. |
CS/DS degradation Gene Setproteins participating in the CS/DS degradation pathway from the Reactome Pathways dataset. |
Regulation of activated PAK-2p34 by proteasome mediated degradation Gene Setproteins participating in the Regulation of activated PAK-2p34 by proteasome mediated degradation pathway from the Reactome Pathways dataset. |
Collagen degradation Gene Setproteins participating in the Collagen degradation pathway from the Reactome Pathways dataset. |
APC/C:Cdc20 mediated degradation of Securin Gene Setproteins participating in the APC/C:Cdc20 mediated degradation of Securin pathway from the Reactome Pathways dataset. |
APC/C:Cdc20 mediated degradation of Cyclin B Gene Setproteins participating in the APC/C:Cdc20 mediated degradation of Cyclin B pathway from the Reactome Pathways dataset. |
SCF(Skp2)-mediated degradation of p27/p21 Gene Setproteins participating in the SCF(Skp2)-mediated degradation of p27/p21 pathway from the Reactome Pathways dataset. |
Ubiquitin-dependent degradation of Cyclin D Gene Setproteins participating in the Ubiquitin-dependent degradation of Cyclin D pathway from the Reactome Pathways dataset. |
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Gene Setproteins participating in the Ubiquitin Mediated Degradation of Phosphorylated Cdc25A pathway from the Reactome Pathways dataset. |
Vif-mediated degradation of APOBEC3G Gene Setproteins participating in the Vif-mediated degradation of APOBEC3G pathway from the Reactome Pathways dataset. |
APC/C-mediated degradation of cell cycle proteins Gene Setproteins participating in the APC/C-mediated degradation of cell cycle proteins pathway from the Reactome Pathways dataset. |
Degradation of the extracellular matrix Gene Setproteins participating in the Degradation of the extracellular matrix pathway from the Reactome Pathways dataset. |
Vpu mediated degradation of CD4 Gene Setproteins participating in the Vpu mediated degradation of CD4 pathway from the Reactome Pathways dataset. |
Cdc20:Phospho-APC/C mediated degradation of Cyclin A Gene Setproteins participating in the Cdc20:Phospho-APC/C mediated degradation of Cyclin A pathway from the Reactome Pathways dataset. |
Antigen processing: Ubiquitination & Proteasome degradation Gene Setproteins participating in the Antigen processing: Ubiquitination & Proteasome degradation pathway from the Reactome Pathways dataset. |
Heme degradation Gene Setproteins participating in the Heme degradation pathway from the Reactome Pathways dataset. |
Degradation of GLI1 by the proteasome Gene Setproteins participating in the Degradation of GLI1 by the proteasome pathway from the Reactome Pathways dataset. |
Degradation of beta-catenin by the destruction complex Gene Setproteins participating in the Degradation of beta-catenin by the destruction complex pathway from the Reactome Pathways dataset. |
Proteasome Degradation(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Proteasome Degradation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
Proteasome Degradation(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Proteasome Degradation(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
PCSK9-mediated LDLR degradation(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the PCSK9-mediated LDLR degradation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
target-directed miRNA degradation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the target-directed miRNA degradation biological process from the curated GO Biological Process Annotations 2023 dataset. |
Proteasome degradation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Proteasome degradation pathway from the WikiPathways Pathways 2024 dataset. |
PCSK9 mediated LDL receptor degradation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the PCSK9 mediated LDL receptor degradation pathway from the WikiPathways Pathways 2024 dataset. |
Degradation pathway of sphingolipids including diseases Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Degradation pathway of sphingolipids including diseases pathway from the WikiPathways Pathways 2024 dataset. |
Glycosaminoglycan degradation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Glycosaminoglycan degradation pathway from the WikiPathways Pathways 2024 dataset. |
APC-Cdc20 mediated degradation of Nek2A Gene Setproteins participating in the APC-Cdc20 mediated degradation of Nek2A pathway from the Reactome Pathways 2024 dataset. |
APC/C-mediated degradation of cell cycle proteins Gene Setproteins participating in the APC/C-mediated degradation of cell cycle proteins pathway from the Reactome Pathways 2024 dataset. |
APC/C:Cdc20 mediated degradation of Cyclin B Gene Setproteins participating in the APC/C:Cdc20 mediated degradation of Cyclin B pathway from the Reactome Pathways 2024 dataset. |
APC/C:Cdc20 mediated degradation of Securin Gene Setproteins participating in the APC/C:Cdc20 mediated degradation of Securin pathway from the Reactome Pathways 2024 dataset. |
APC/C:Cdc20 mediated degradation of mitotic proteins Gene Setproteins participating in the APC/C:Cdc20 mediated degradation of mitotic proteins pathway from the Reactome Pathways 2024 dataset. |
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint Gene Setproteins participating in the APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint pathway from the Reactome Pathways 2024 dataset. |
Antigen processing: Ubiquitination & Proteasome degradation Gene Setproteins participating in the Antigen processing: Ubiquitination & Proteasome degradation pathway from the Reactome Pathways 2024 dataset. |
Biosynthesis of A2E, implicated in retinal degradation Gene Setproteins participating in the Biosynthesis of A2E, implicated in retinal degradation pathway from the Reactome Pathways 2024 dataset. |
CS/DS degradation Gene Setproteins participating in the CS/DS degradation pathway from the Reactome Pathways 2024 dataset. |
Cdc20:Phospho-APC/C mediated degradation of Cyclin A Gene Setproteins participating in the Cdc20:Phospho-APC/C mediated degradation of Cyclin A pathway from the Reactome Pathways 2024 dataset. |
Collagen degradation Gene Setproteins participating in the Collagen degradation pathway from the Reactome Pathways 2024 dataset. |
Degradation of AXIN Gene Setproteins participating in the Degradation of AXIN pathway from the Reactome Pathways 2024 dataset. |
Degradation of DVL Gene Setproteins participating in the Degradation of DVL pathway from the Reactome Pathways 2024 dataset. |
Degradation of GABA Gene Setproteins participating in the Degradation of GABA pathway from the Reactome Pathways 2024 dataset. |
Degradation of GLI1 by the proteasome Gene Setproteins participating in the Degradation of GLI1 by the proteasome pathway from the Reactome Pathways 2024 dataset. |
Degradation of GLI2 by the proteasome Gene Setproteins participating in the Degradation of GLI2 by the proteasome pathway from the Reactome Pathways 2024 dataset. |
Degradation of beta-catenin by the destruction complex Gene Setproteins participating in the Degradation of beta-catenin by the destruction complex pathway from the Reactome Pathways 2024 dataset. |
Degradation of the extracellular matrix Gene Setproteins participating in the Degradation of the extracellular matrix pathway from the Reactome Pathways 2024 dataset. |
Enzymatic degradation of Dopamine by monoamine oxidase Gene Setproteins participating in the Enzymatic degradation of Dopamine by monoamine oxidase pathway from the Reactome Pathways 2024 dataset. |
Enzymatic degradation of dopamine by COMT Gene Setproteins participating in the Enzymatic degradation of dopamine by COMT pathway from the Reactome Pathways 2024 dataset. |
Gap junction degradation Gene Setproteins participating in the Gap junction degradation pathway from the Reactome Pathways 2024 dataset. |
Glycine degradation Gene Setproteins participating in the Glycine degradation pathway from the Reactome Pathways 2024 dataset. |
HS-GAG degradation Gene Setproteins participating in the HS-GAG degradation pathway from the Reactome Pathways 2024 dataset. |
Heme degradation Gene Setproteins participating in the Heme degradation pathway from the Reactome Pathways 2024 dataset. |
Keratan sulfate degradation Gene Setproteins participating in the Keratan sulfate degradation pathway from the Reactome Pathways 2024 dataset. |
M-decay: degradation of maternal mRNAs by maternally stored factors Gene Setproteins participating in the M-decay: degradation of maternal mRNAs by maternally stored factors pathway from the Reactome Pathways 2024 dataset. |
Mitochondrial RNA degradation Gene Setproteins participating in the Mitochondrial RNA degradation pathway from the Reactome Pathways 2024 dataset. |
Mitochondrial protein degradation Gene Setproteins participating in the Mitochondrial protein degradation pathway from the Reactome Pathways 2024 dataset. |
Regulation of TP53 Degradation Gene Setproteins participating in the Regulation of TP53 Degradation pathway from the Reactome Pathways 2024 dataset. |
Regulation of activated PAK-2p34 by proteasome mediated degradation Gene Setproteins participating in the Regulation of activated PAK-2p34 by proteasome mediated degradation pathway from the Reactome Pathways 2024 dataset. |
SCF(Skp2)-mediated degradation of p27/p21 Gene Setproteins participating in the SCF(Skp2)-mediated degradation of p27/p21 pathway from the Reactome Pathways 2024 dataset. |
SCF-beta-TrCP mediated degradation of Emi1 Gene Setproteins participating in the SCF-beta-TrCP mediated degradation of Emi1 pathway from the Reactome Pathways 2024 dataset. |
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Gene Setproteins participating in the Ubiquitin Mediated Degradation of Phosphorylated Cdc25A pathway from the Reactome Pathways 2024 dataset. |
Ubiquitin-dependent degradation of Cyclin D Gene Setproteins participating in the Ubiquitin-dependent degradation of Cyclin D pathway from the Reactome Pathways 2024 dataset. |
Vif-mediated degradation of APOBEC3G Gene Setproteins participating in the Vif-mediated degradation of APOBEC3G pathway from the Reactome Pathways 2024 dataset. |
Vpu mediated degradation of CD4 Gene Setproteins participating in the Vpu mediated degradation of CD4 pathway from the Reactome Pathways 2024 dataset. |
Z-decay: degradation of maternal mRNAs by zygotically expressed factors Gene Setproteins participating in the Z-decay: degradation of maternal mRNAs by zygotically expressed factors pathway from the Reactome Pathways 2024 dataset. |
target-directed miRNA degradation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the target-directed miRNA degradation biological process from the curated GO Biological Process Annotations 2025 dataset. |
Ethanolamine degradation polyhedral organelle Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Ethanolamine degradation polyhedral organelle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Fatty acid degradation Gene SetFrom KEGG Pathways 2026 proteins participating in the Fatty acid degradation pathway from the KEGG Pathways 2026 dataset. |
Lysine degradation Gene SetFrom KEGG Pathways 2026 proteins participating in the Lysine degradation pathway from the KEGG Pathways 2026 dataset. |
Glycosaminoglycan degradation Gene SetFrom KEGG Pathways 2026 proteins participating in the Glycosaminoglycan degradation pathway from the KEGG Pathways 2026 dataset. |
Other glycan degradation Gene SetFrom KEGG Pathways 2026 proteins participating in the Other glycan degradation pathway from the KEGG Pathways 2026 dataset. |
RNA degradation Gene SetFrom KEGG Pathways 2026 proteins participating in the RNA degradation pathway from the KEGG Pathways 2026 dataset. |
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene SetFrom Biocarta Pathways proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset. |
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset. |
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anxiety and hostility and depression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
frontotemporal dementia and pick-like 3r and 4r tauopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
vitamins and metabolites in pregnant women and neonates Gene SetFrom GAD Gene-Disease Associations genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on amino acids and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset. |
Synthesis and interconversion of nucleotide di- and triphosphates Gene Setproteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2023 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
SRF and miRs in smooth muscle differentiation and proliferation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset. |
ApoE and miR 146 in inflammation and atherosclerosis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset. |
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset. |
Somatroph axis GH and its relationship to dietary restriction and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset. |
Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset. |
GLP 1 from intestine and pancreas and role in glucose homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset. |
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Setproteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Setproteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset. |
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Setproteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset. |
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Setproteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset. |
Transcriptional and post-translational regulation of MITF-M expression and activity Gene Setproteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset. |
Transport of bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2025 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Regulation of gene expression and signal transduction in immune and stress responses Gene SetFrom CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. |
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Basic cell groups and regions Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
head and face region of M1 Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
telomeres telomerase cellular aging and immortality Gene SetFrom Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset. |
mcalpain and friends in cell motility Gene SetFrom Biocarta Pathways proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset. |
role of ppar-gamma coactivators in obesity and thermogenesis Gene SetFrom Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset. |
il12 and stat4 dependent signaling pathway in th1 development Gene SetFrom Biocarta Pathways proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset. |
hypoxia and p53 in the cardiovascular system Gene SetFrom Biocarta Pathways proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset. |
lissencephaly gene (lis1) in neuronal migration and development Gene SetFrom Biocarta Pathways proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset. |
role of erbb2 in signal transduction and oncology Gene SetFrom Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset. |
corticosteroids and cardioprotection Gene SetFrom Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset. |
cyclins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
mechanism of acetaminophen activity and toxicity Gene SetFrom Biocarta Pathways proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset. |
nfat and hypertrophy of the heart Gene SetFrom Biocarta Pathways proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset. |
acetylation and deacetylation of rela in nucleus Gene SetFrom Biocarta Pathways proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset. |
thrombin signaling and protease-activated receptors Gene SetFrom Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset. |
antigen processing and presentation Gene SetFrom Biocarta Pathways proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset. |
stathmin and breast cancer resistance to antimicrotubule agents Gene SetFrom Biocarta Pathways proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset. |
role of ß-arrestins in the activation and targeting of map kinases Gene SetFrom Biocarta Pathways proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset. |
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene SetFrom Biocarta Pathways proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset. |
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene SetFrom Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset. |
btg family proteins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene SetFrom Biocarta Pathways proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset. |
endocytotic role of ndk phosphins and dynamin Gene SetFrom Biocarta Pathways proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset. |
regulation of eif-4e and p70s6 kinase Gene SetFrom Biocarta Pathways proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset. |
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene SetFrom Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset. |
vegf hypoxia and angiogenesis Gene SetFrom Biocarta Pathways proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset. |
yaci and bcma stimulation of b cell immune responses Gene SetFrom Biocarta Pathways proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset. |
lck and fyn tyrosine kinases in initiation of tcr activation Gene SetFrom Biocarta Pathways proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset. |
hiv-1 nef: negative effector of fas and tnf Gene SetFrom Biocarta Pathways proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset. |
nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene SetFrom Biocarta Pathways proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset. |
ucalpain and friends in cell spread Gene SetFrom Biocarta Pathways proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset. |
ionomycin and phorbal ester signaling pathway Gene SetFrom Biocarta Pathways proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset. |
carm1 and regulation of the estrogen receptor Gene SetFrom Biocarta Pathways proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset. |
phosphoinositides and their downstream targets Gene SetFrom Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset. |
melanocyte development and pigmentation pathway Gene SetFrom Biocarta Pathways proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset. |
akap95 role in mitosis and chromosome dynamics Gene SetFrom Biocarta Pathways proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset. |
transcription factor creb and its extracellular signals Gene SetFrom Biocarta Pathways proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
the igf-1 receptor and longevity Gene SetFrom Biocarta Pathways proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset. |
cdc25 and chk1 regulatory pathway in response to dna damage Gene SetFrom Biocarta Pathways proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset. |
human cytomegalovirus and map kinase pathways Gene SetFrom Biocarta Pathways proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset. |
influence of ras and rho proteins on g1 to s transition Gene SetFrom Biocarta Pathways proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset. |
proteolysis and signaling pathway of notch Gene SetFrom Biocarta Pathways proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset. |
apoptotic dna-fragmentation and tissue homeostasis Gene SetFrom Biocarta Pathways proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset. |
ion channels and their functional role in vascular endothelium Gene SetFrom Biocarta Pathways proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset. |
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene SetFrom Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset. |
fosb gene expression and drug abuse Gene SetFrom Biocarta Pathways proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset. |
links between pyk2 and map kinases Gene SetFrom Biocarta Pathways proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset. |
opposing roles of aif in apoptosis and cell survival Gene SetFrom Biocarta Pathways proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset. |
cadmium induces dna synthesis and proliferation in macrophages Gene SetFrom Biocarta Pathways proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset. |
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene SetFrom Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset. |
role of brca1 brca2 and atr in cancer susceptibility Gene SetFrom Biocarta Pathways proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset. |
chrebp regulation by carbohydrates and camp Gene SetFrom Biocarta Pathways proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset. |
pten dependent cell cycle arrest and apoptosis Gene SetFrom Biocarta Pathways proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset. |
induction of apoptosis through dr3 and dr4/5 death receptors Gene SetFrom Biocarta Pathways proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset. |
CIITA-18437201-Raji B cells and iDC-human Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
VDR-23401126-LCL-AND-THP1-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
BACH1-22875853-HELA-AND-SCP4-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
Hypothyroidism, central, and testicular enlargement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vater association with macrocephaly and ventriculomegaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal hamartomas nephroblastomatosis and fetal gigantism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microtia, hearing impairment, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined cellular and humoral immune defects with granulomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined d-2- and l-2-hydroxyglutaric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sinoatrial node dysfunction and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warts, hypogammaglobulinemia, infections, and myelokathexis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom 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. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple Cutaneous and Mucosal Venous Malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infertility associated with multi-tailed spermatozoa and excessive DNA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mullerian aplasia and hyperandrogenism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multicentric osteolysis, nodulosis and arthropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stapes ankylosis with broad thumb and toes Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, short stature, and impaired glucose metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy dilated with woolly hair and keratoderma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, renal dysfunction, and cholestasis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, microphthalmia and nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and anterior segment dysgenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone fragility with contractures, arterial rupture, and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom 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 SetFrom 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. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom 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. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary Paragangliomas and Pheochromocytomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Band-like calcification with simplified gyration and polymicrogyria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, epilepsy, and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia and hypogonadotropic hypogonadism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Optic atrophy and cataract, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, juvenile, with microcornea and glucosuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, deafness, and narcolepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary motor and sensory neuropathy with optic atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary leiomyomatosis and renal cell cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, hiatal hernia and nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pancreatic agenesis and congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined malonic and methylmalonic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcornea, myopic chorioretinal atrophy, and telecanthus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis Gyrata syndrome of Beare and Stevenson Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aniridia, cerebellar ataxia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked hereditary motor and sensory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniosynostosis and dental anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, hyperphagia, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebroretinal microangiopathy with calcifications and cysts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy and paroxysmal dyskinesia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, normal intelligence and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Calcification of joints and arteries Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis and recurrent skin vesicles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pineal hyperplasia AND diabetes mellitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Morbid obesity and spermatogenic failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Striatal necrosis, bilateral, and progressive polyneuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary sensory and autonomic neuropathy type IIA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopia, high, with cataract and vitreoretinal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom 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. |
Camptodactyly, tall stature, and hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyogenic arthritis, pyoderma gangrenosum and acne Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom 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. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, cochlear, with myopia and intellectual impairment Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix part Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Setproteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset. |
NRD complex (Nucleosome remodeling and deacetylation complex) Gene Setproteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset. |
6S methyltransferase and RG-containing Sm proteins complex Gene Setproteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset. |
Remodeling and spacing factor (RSF) complex Gene Setproteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset. |
PBAF complex (Polybromo- and BAF containing complex) Gene Setproteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset. |
Cleavage and polyadenylation factor (CPSF) Gene Setproteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Nucleic and chromatin Fanconi complex Gene Setproteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset. |
ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Setproteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset. |
20S methylosome and RG-containing Sm protein complex Gene Setproteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset. |
Amino Acids, Peptides, and Proteins Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset. |
Bile Acids and Salts Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset. |
Prime and Bond NT Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset. |
drospirenone and ethinyl estradiol combination Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset. |
Hypophosphatemic Rickets And Hyperparathyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset. |
Synovitis granulomatous with uveitis and cranial neuropathies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset. |
Hereditary Sensory and Motor Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
Combined Cellular And Humoral Immune Defects With Granulomas Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset. |
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset. |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset. |
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset. |
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset. |
Microtia, Hearing Impairment, And Cleft Palate Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset. |
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Acromegaloid features, overgrowth, cleft palate, and hernia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset. |
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset. |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset. |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset. |
Craniosynostosis, anal anomalies, and porokeratosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset. |
Sacral defect and anterior sacral meningocele Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset. |
Classical Lissencephalies and Subcortical Band Heterotopias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset. |
Optic atrophy 1 and deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Russe type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset. |
Blepharophimosis, Ptosis, and Epicanthus Inversus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis And Recurrent Skin Vesicles Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset. |
Signs and Symptoms, Digestive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblD Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset. |
Head and Neck Neoplasms Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Cataract, Juvenile, With Microcornea And Glucosuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset. |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset. |
Venous Malformations, Multiple Cutaneous and Mucosal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset. |
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset. |
Postoperative Nausea and Vomiting Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom 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. |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset. |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset. |
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Hypopituitarism and septooptic 'dysplasia' Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset. |
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset. |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset. |
Aplasia of Lacrimal and Salivary Glands Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset. |
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset. |
Calcification of Joints and Arteries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset. |
CHOANAL ATRESIA AND LYMPHEDEMA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy, Type IIC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset. |
Asthma, Nasal Polyps, And Aspirin Intolerance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset. |
Neoplasms, Germ Cell and Embryonal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy VI Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset. |
Cutis Gyrata Syndrome of Beare And Stevenson Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Wounds and Injuries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset. |
Schizophrenia and Disorders with Psychotic Features Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset. |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Sleep Initiation and Maintenance Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblF Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract and cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom 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. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy and Paroxysmal Dyskinesia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset. |
Hereditary Breast and Ovarian Cancer Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset. |
Keratosis palmoplantaris with periodontopathia and onychogryposis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis palmoplantaris with periodontopathia and onychogryposis from the curated CTD Gene-Disease Associations dataset. |
Intracranial Embolism and Thrombosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intracranial Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset. |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset. |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom 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. |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset. |
Nevi and Melanomas Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nevi and Melanomas from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
Attention Deficit and Disruptive Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Attention Deficit and Disruptive Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy dilated with Woolly hair and keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy dilated with Woolly hair and keratoderma from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset. |
Optic atrophy and cataract, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset. |
Mullerian Aplasia and Hyperandrogenism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mullerian Aplasia and Hyperandrogenism from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Esophageal and Gastric Varices Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Esophageal and Gastric Varices from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset. |
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene SetFrom 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. |
Carcinoma, squamous cell of head and neck Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carcinoma, squamous cell of head and neck from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
Extravasation of Diagnostic and Therapeutic Materials Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Extravasation of Diagnostic and Therapeutic Materials from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Knuckle pads, leuconychia and sensorineural deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Knuckle pads, leuconychia and sensorineural deafness from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Hyperekplexia and Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperekplexia and Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset. |
Iris hypoplasia and glaucoma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset. |
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom 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. |
Sarcoma family syndrome of Li and Fraumeni Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset. |
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset. |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
Lipoid Proteinosis of Urbach and Wiethe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipoid Proteinosis of Urbach and Wiethe from the curated CTD Gene-Disease Associations dataset. |
Hypertelorism with esophageal abnormality and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertelorism with esophageal abnormality and hypospadias from the curated CTD Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Bone Fragility with Contractures, Arterial Rupture, and Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bone Fragility with Contractures, Arterial Rupture, and Deafness from the curated CTD Gene-Disease Associations dataset. |
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset. |
Jervell And Lange-Nielsen Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Neoplasms, Glandular and Epithelial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Glandular and Epithelial from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset. |
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset. |
Pyogenic arthritis, pyoderma gangrenosum, and acne Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyogenic arthritis, pyoderma gangrenosum, and acne from the curated CTD Gene-Disease Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Cleft Palate, Isolated, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Absent radii and thrombocytopenia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Absent radii and thrombocytopenia from the curated CTD Gene-Disease Associations dataset. |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene SetFrom 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. |
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS from the curated CTD Gene-Disease Associations dataset. |
Microcephaly with Mental Retardation and Digital Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset. |
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease STAPES ANKYLOSIS WITH BROAD THUMB AND TOES from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Signs and Symptoms, Respiratory Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Respiratory from the curated CTD Gene-Disease Associations dataset. |
Renal cysts and diabetes syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, LOM type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, LOM type from the curated CTD Gene-Disease Associations dataset. |
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor from the curated CTD Gene-Disease Associations dataset. |
Hereditary Angioedema Types I and II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Angioedema Types I and II from the curated CTD Gene-Disease Associations dataset. |
Drug-Related Side Effects and Adverse Reactions Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Drug-Related Side Effects and Adverse Reactions from the curated CTD Gene-Disease Associations dataset. |
Insect Bites and Stings Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Insect Bites and Stings from the curated CTD Gene-Disease Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset. |
Foveal Hypoplasia and Anterior Segment Dysgenesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Foveal Hypoplasia and Anterior Segment Dysgenesis from the curated CTD Gene-Disease Associations dataset. |
Cubitus Valgus with Mental Retardation and Unusual Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset. |
Ophthalmoplegia, External, and Myopia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ophthalmoplegia, External, and Myopia from the curated CTD Gene-Disease Associations dataset. |
Deafness, Sensorineural, And Male Infertility Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Sensorineural, And Male Infertility from the curated CTD Gene-Disease Associations dataset. |
Hereditary Sensory and Autonomic Neuropathies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Autonomic Neuropathies from the curated CTD Gene-Disease Associations dataset. |
Histiocytosis with joint contractures and sensorineural deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Histiocytosis with joint contractures and sensorineural deafness from the curated CTD Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Leiomyomatosis, esophageal and vulval, with nephropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leiomyomatosis, esophageal and vulval, with nephropathy from the curated CTD Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis from the curated CTD Gene-Disease Associations dataset. |
Embolism and Thrombosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset. |
Religion and Psychology Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Religion and Psychology in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Attention Deficit and Disruptive Behavior Disorders Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Attention Deficit and Disruptive Behavior Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Body Weights and Measures Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Body Weights and Measures in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Nevi and Melanomas Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Nevi and Melanomas in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Head and Neck Neoplasms Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Head and Neck Neoplasms in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
degeneration of macula and posterior pole Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease degeneration of macula and posterior pole from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease eye and adnexa disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease eye and adnexa disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
inflammatory and toxic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease inflammatory and toxic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mucinous tubular and spindle renal cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mucinous tubular and spindle renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pustulosis of palm and sole Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pustulosis of palm and sole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hand, foot and mouth disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hand, foot and mouth disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
tooth and nail syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
extrapyramidal and movement disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease extrapyramidal and movement disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mononeuritis of upper limb and mononeuritis multiplex Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mononeuritis of upper limb and mononeuritis multiplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
lung mixed small cell and squamous cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lung mixed small cell and squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autoimmune disease of skin and connective tissue Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune disease of skin and connective tissue in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
histiocytic and dendritic cell cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease histiocytic and dendritic cell cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
methylmalonic aciduria and homocystinuria type cblc Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
germ cell and embryonal cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease germ cell and embryonal cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mixed endometrial stromal and smooth muscle tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mixed endometrial stromal and smooth muscle tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spinal canal and spinal cord meningioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spinal canal and spinal cord meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ovarian germ cell monodermal and highly specialized teratoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ovarian germ cell monodermal and highly specialized teratoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
degeneration of macula and posterior pole Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease degeneration of macula and posterior pole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mature t-cell and nk-cell lymphoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mature t-cell and nk-cell lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease eye and adnexa disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
breast and lung cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease breast and lung cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
increased chromosome aberrations and higher lung cancer risk Gene SetFrom GAD Gene-Disease Associations genes associated with the disease increased chromosome aberrations and higher lung cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
factor viii and factor ix genes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor viii and factor ix genes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
flecainide and paroxetine Gene SetFrom GAD Gene-Disease Associations genes associated with the disease flecainide and paroxetine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pre-term delivery infant mortality and malaria morbidity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pre-term delivery infant mortality and malaria morbidity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alopecia and lumbar herniated disk Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alopecia and lumbar herniated disk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
baroreflex and blood pressure regulation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease baroreflex and blood pressure regulation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy, hereditary motor and sensory Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy, hereditary motor and sensory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
psoriasis, psoriatic arthritis, and sapho syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
platelet reactivity and clopidogrel resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease platelet reactivity and clopidogrel resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |