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Gene profile

PLEC

HGNC:9069 · SaudiVarKB evidence summary derived from retained literature mentions.

5Gene mentions
5Publications
0Linked variants
4Associated phenotypes

Associated phenotypes

Co-mentioned in PLEC publications
PhenotypeIdentifierArticlesMentions
cardiomyopathyHP:000163811
atopic dermatitis11
Duchenne muscular dystrophy11
systemic lupus erythematosus11

Linked variants

Variants normalized to PLEC
VariantHGVS / rsIDArticlesMentions

No normalized variants are linked to this gene.

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Not specified1
Not specified801
Not specified3591

Supporting publications

5 records
  1. 2026The expression of pruritus-associated genes in seven skin diseases: Evidence from microarray.Journal of the European Academy of Dermatology and Venereology : JEADVPubMed ↗
  2. 2026Supraglottic and Glottic Involvement in Epidermolysis Bullosa Simplex: A Pediatric Case Report and Review of Airway Management.Ear, nose, & throat journalPubMed ↗
  3. 2024Exploring novel natural compound-based therapies for Duchenne muscular dystrophy management: insights from network pharmacology, QSAR modeling, molecular dynamics, and free energy calculations.Frontiers in pharmacologyPubMed ↗
  4. 2018Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.Clinical and experimental dermatologyPubMed ↗
  5. 2018No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.PloS onePubMed ↗