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Gene profile

CUBN

HGNC:2548 · SaudiVarKB evidence summary derived from retained literature mentions.

6Gene mentions
6Publications
2Linked variants
1Associated phenotypes

Associated phenotypes

Co-mentioned in CUBN publications
PhenotypeIdentifierArticlesMentions
colorectal cancer11

Linked variants

Variants normalized to CUBN
VariantHGVS / rsIDArticlesMentions
rs1801222rs180122211
rs10904849rs1090484911

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia211
Not specified5771
Saudi Arabia421

Supporting publications

6 records
  1. 2021Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.Frontiers in geneticsPubMed ↗
  2. 2015A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.Scientific reportsPubMed ↗
  3. 2013Phylogenetic analysis of cubilin (CUBN) gene.BioinformationPubMed ↗
  4. 2005Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.Saudi medical journalPubMed ↗
  5. 2004Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.Human mutationPubMed ↗
  6. 1999Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.Nature geneticsPubMed ↗