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Gene profile

EXT2

HGNC:3513 · SaudiVarKB evidence summary derived from retained literature mentions.

3Gene mentions
3Publications
4Linked variants
1Associated phenotypes

Associated phenotypes

Co-mentioned in EXT2 publications
PhenotypeIdentifierArticlesMentions
diabetes mellitus11

Linked variants

Variants normalized to EXT2
VariantHGVS / rsIDArticlesMentions
c.541delGc.541delG11
p.D181Ifsp.D181Ifs11
c.583delGc.583delG11
p.G195Vfsp.G195Vfs11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia221

Supporting publications

3 records
  1. 2023Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.American journal of medical genetics. Part APubMed ↗
  2. 2021Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.Orphanet journal of rare diseasesPubMed ↗
  3. 2013ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.GenePubMed ↗