Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TAS2R43 p.Asn176Asp (p.N176D)
(
ENST00000531678.1 )
TPM1 p.Asp217Asn (p.D217N) ( ENST00000559556.5, ENST00000559397.6, ENST00000560970.6, ENST00000561266.6, ENST00000357980.9, ENST00000358278.7, ENST00000317516.12, ENST00000560615.6, ENST00000334895.10, ENST00000560959.5, ENST00000403994.9, ENST00000558910.3, ENST00000559281.6, ENST00000288398.10, ENST00000404484.9, ENST00000267996.11, ENST00000651704.1, ENST00000714013.1, ENST00000651577.1, ENST00000714014.1, ENST00000714017.1 )
TAS2R43 p.Asn176Asp (p.N176D) ( ENST00000531678.1 )
TPM1 p.Asp217Asn (p.D217N) ( ENST00000267996.11, ENST00000288398.10, ENST00000317516.12, ENST00000334895.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000404484.9, ENST00000558910.3, ENST00000559281.6, ENST00000559397.6, ENST00000559556.5, ENST00000560615.6, ENST00000560959.5, ENST00000560970.6, ENST00000561266.6, ENST00000651577.1, ENST00000651704.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- DisGeNET
- Description
- In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective.
- Pubmed
- 24888384
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.033971298228346
- Year of publication
- 2015
Drugs