TDP-43 Proteinopathies

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Results for "TDP-43 Proteinopathies": 1 gene, 8 gene sets

Name
TGDS Gene TDP-glucose 4,6-dehydratase The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
TDP-43 Proteinopathies Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the TDP-43 Proteinopathies phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Tdp-43 Proteinopathies Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Tdp-43 Proteinopathies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
proteinopathies Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term proteinopathies in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
TDP 521252 Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical TDP 521252 from the curated CTD Gene-Chemical Interactions dataset.
TDP 665759 Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical TDP 665759 from the curated CTD Gene-Chemical Interactions dataset.
tdp Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term tdp in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
tdp phosphorylation Gene Set From GO Biological Process Annotations 2015 genes participating in the tdp phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset.
Ftld-Tdp, Tardbp-Related Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ftld-Tdp, Tardbp-Related in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.