Mitochondrial disease with dilated cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 0
OrphanetNr: 217613
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
TAZ rs104894937 pathogenic RCV000011857.5
TAZ rs104894941 pathogenic RCV000011850.15
TAZ rs104894942 pathogenic RCV000011859.5
TAZ rs132630277 pathogenic RCV000011854.13
TAZ rs387907218 pathogenic RCV000035099.2
TAZ rs387907218 pathogenic RCV000029171.12
TAZ rs397515738 likely pathogenic RCV000035087.2
TAZ rs397515739 likely pathogenic RCV000035088.2
TAZ rs397515740 likely pathogenic RCV000035089.2
TAZ rs397515741 pathogenic RCV000035090.2
TAZ rs397515746 likely pathogenic RCV000035097.2
TAZ rs397515747 likely pathogenic RCV000035098.2
TAZ rs397515750 likely pathogenic RCV000035102.2
TAZ rs587776741 pathogenic RCV000011861.2
TAZ rs727504327 likely pathogenic RCV000154422.1
TAZ rs727504394 pathogenic RCV000154564.1
TAZ rs727504431 likely pathogenic RCV000154666.1

Additional Information: