TJP2
HGNC:11828 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
0Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in TJP2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
| autism spectrum disorder | HP:0000729 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to TJP2| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia · Riyadh | — | 79 | 1 |
| Not specified | — | 98 | 1 |
Supporting publications
5 records- 2025Integrative approaches to m6A and m5C RNA modifications in autism spectrum disorder revealing potential causal variants.Mammalian genome : official journal of the International Mammalian Genome SocietyPubMed ↗
- 2025How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis?Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPubMed ↗
- 2023Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center.International journal of hepatologyPubMed ↗
- 2019Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗
- 2017Genetic profiling of children with advanced cholestatic liver disease.Clinical geneticsPubMed ↗