TTN wt Allele - CISMeF

Preferred Label : TTN wt Allele;

NCIt synonyms : FLJ32040; CMPD4; FLJ43066; LGMD2J; HMERF; FLJ26409; FLJ34413; FLJ26020; CMD1G; FLJ39564; Titin wt Allele; DKFZp451N061; CMH9; TMD; EOMFC; MYLK5; Cardiomyopathy, Dilated 1G (Autosomal Dominant) Gene;

NCIt definition : Human TTN wild-type allele is located in the vicinity of 2q31 and is approximately 305 kb in length. This allele, which encodes titin protein, is involved in both muscle filament structure and protein phosphorylation. Mutation of the gene is associated with hereditary myopathy with early respiratory failure, familial hypertrophic cardiomyopathy type 9, cardiomyopathy dilated type 1G, tardive tibial muscular dystrophy, limb-girdle muscular dystrophy type 2J and early-onset myopathy with fatal cardiomyopathy.;

GenBank Accession Number : X90568;

Details

Origin ID

C101757;

UMLS CUI

C3538714;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1g [OMIM Phenotype]
- Congenital myopathy 5 with cardiomyopathy [OMIM Phenotype]
- Early-onset myopathy with fatal cardiomyopathy [ORDO Disease]
- Hereditary myopathy with early respiratory failure [ORDO Disease]
- Hereditary myopathy with early respiratory failure [ICD-11 More detail]
- Muscular dystrophy, limb-girdle, autosomal recessive 10 [OMIM Phenotype]
- Myopathy, myofibrillar, 9, with early respiratory failure [OMIM Phenotype]
- Tibial muscular dystrophy [ORDO Disease]
- Tibial muscular dystrophy, tardive [OMIM Phenotype]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
- Transient myeloproliferative syndrome [ORDO Disease]
- Transient myeloproliferative syndrome [HPO term]
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]
- dilated cardiomyopathy 1G [DO Concept]
- hereditary myopathy with early respiratory failure [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 9 [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2J [MeSH Supplementary Concept]
- myofibrillar myopathy 9 [DO Concept]
- temporomandibular joint dysfunction [MedlinePlus Topic]
- tibial muscular dystrophy [DO Concept]
- titin [ORDO Gene]
- tuberomammillary nucleus dorsal part [UBERON concept]
OMIM relation
- Titin [OMIM gene]
See also inter- (CISMeF)
- Cardiomyopathy, familial hypertrophic, 9 [OMIM Phenotype]
- hereditary myopathy with early respiratory failure [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q31 [NCIt concept]
gene_is_element_in_pathway
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Chromosome Condensation [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Platelet Activation [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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