Tardbp-Related Amyotrophic Lateral Sclerosis malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
Aliases & Descriptions for Tardbp-Related Amyotrophic Lateral Sclerosis:
Penetrance: like pathogenic variants in other als-related genes (e.g., sod1), penetrance is clearly incomplete. this is evident from the number of individuals with apparently simplex als who have a tardbp pathogenic variant, which may have been inherited from an ostensibly asymptomatic (or undiagnosed) parent. however, accurate estimates are difficult to achieve for the following reasons:...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases
MalaCards based summary: Tardbp-Related Amyotrophic Lateral Sclerosis, also known as amyotrophic lateral sclerosis 10, is related to amyotrophic lateral sclerosis 10, with or without ftd and lateral sclerosis. An important gene associated with Tardbp-Related Amyotrophic Lateral Sclerosis is TARDBP (TAR DNA Binding Protein).
GeneReviews for NBK5942
Articles related to Tardbp-Related Amyotrophic Lateral Sclerosis:
Clinvar genetic disease variations for Tardbp-Related Amyotrophic Lateral Sclerosis:5
Search GEO for disease gene expression data for Tardbp-Related Amyotrophic Lateral Sclerosis.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet