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Gene profile

PDIA6

HGNC:30168 · SaudiVarKB evidence summary derived from retained literature mentions.

1Gene mentions
1Publications
0Linked variants
2Associated phenotypes

Associated phenotypes

Co-mentioned in PDIA6 publications
PhenotypeIdentifierArticlesMentions
diabetes mellitus11
polycystic kidney disease11

Linked variants

Variants normalized to PDIA6
VariantHGVS / rsIDArticlesMentions

No normalized variants are linked to this gene.

Population context

Reported in the same publications
Country / regionGroupCohortArticles

No structured population context is available.

Supporting publications

1 records
  1. 2021Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.Clinical genetics1 mentions