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Gene profile

MYH7

HGNC:7577 · SaudiVarKB evidence summary derived from retained literature mentions.

7Gene mentions
7Publications
1Linked variants
4Associated phenotypes

Associated phenotypes

Co-mentioned in MYH7 publications
PhenotypeIdentifierArticlesMentions
cardiomyopathyHP:000163855
Fabry disease22
congenital myopathy22
Noonan syndrome11

Linked variants

Variants normalized to MYH7
VariantHGVS / rsIDArticlesMentions
H1904L11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia2
Not specified2,0681
Saudi Arabia501
Not specified421
Not specified291

Supporting publications

7 records
  1. 2026Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.BMC cardiovascular disordersPubMed ↗
  2. 2024Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.Cardiovascular diagnosis and therapyPubMed ↗
  3. 2019Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy.Medicina (Kaunas, Lithuania)PubMed ↗
  4. 2016Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.Cardiovascular journal of AfricaPubMed ↗
  5. 2012Grouping patients for masseter muscle genotype-phenotype studies.The Angle orthodontistPubMed ↗
  6. 2005Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.NeurologyPubMed ↗
  7. 2004Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.NeurologyPubMed ↗