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Gene profile

TAPT1

HGNC:26887 · SaudiVarKB evidence summary derived from retained literature mentions.

2Gene mentions
2Publications
0Linked variants
4Associated phenotypes

Associated phenotypes

Co-mentioned in TAPT1 publications
PhenotypeIdentifierArticlesMentions
developmental delayHP:000126311
osteogenesis imperfecta11
congenital cataract11
cleft lip and palate11

Linked variants

Variants normalized to TAPT1
VariantHGVS / rsIDArticlesMentions

No normalized variants are linked to this gene.

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Not specified1661

Supporting publications

2 records
  1. 2023A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.EMBO molecular medicinePubMed ↗
  2. 2017Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.Human geneticsPubMed ↗