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Gene profile

SLC4A1

HGNC:11027 · SaudiVarKB evidence summary derived from retained literature mentions.

3Gene mentions
3Publications
0Linked variants
2Associated phenotypes

Associated phenotypes

Co-mentioned in SLC4A1 publications
PhenotypeIdentifierArticlesMentions
renal failure22
hearing lossHP:000036511

Linked variants

Variants normalized to SLC4A1
VariantHGVS / rsIDArticlesMentions

No normalized variants are linked to this gene.

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia231
Not specified3401

Supporting publications

3 records
  1. 2024Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.Nucleosides, nucleotides & nucleic acidsPubMed ↗
  2. 2019Treatment and long-term outcome in primary distal renal tubular acidosis.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationPubMed ↗
  3. 2014Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.Kidney internationalPubMed ↗