PAX8
HGNC:8622 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
0Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in PAX8 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| thyroid cancer | — | 1 | 1 |
Linked variants
Variants normalized to PAX8| 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 |
|---|---|---|---|
| Not specified | — | 100 | 1 |
| Saudi Arabia | — | 4,000 | 1 |
Supporting publications
3 records- 2020Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate?Virchows Archiv : an international journal of pathologyPubMed ↗
- 2018Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.The Journal of clinical endocrinology and metabolismPubMed ↗
- 2010Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.The Journal of clinical endocrinology and metabolismPubMed ↗