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PRKX and Turner syndrome are reported together in 1 article.
Gene
PRKX
- HGNC
- HGNC:9441
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Turner syndrome
23articles
23mentions
10co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Hypospadias in ring X syndrome.
PMID 33872775 | DOI 10.1016/j.ejmg.2021.104225 · European journal of medical genetics · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRKX | “However, hypospadias was not reported in the previous cases and can be due to the associated duplication outside PAR1 region including in particular PRKX gene coding for a protein involved in urogenital system morphogenesis.” | 0.98 | hgnc_dict_v1 |
| phenotype | Turner syndrome | “Ring X is a chromosomal anomaly mainly seen in females with turner syndrome and usually present in mosaic form with 45,X cells (45,X/46,X,r(X)) because of their mitotic instability.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SHOX | “Molecular investigations showed 923 Kb terminal deletion on the pseudoautosomal region 1 (PAR1) including SHOX gene followed by a duplication of 2.4 Mb.” | 0.98 | hgnc_dict_v1 |