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MBTPS1 and skeletal dysplasia are reported together in 1 article.
Gene
MBTPS1
- HGNC
- HGNC:15456
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Skeletal dysplasia
49articles
49mentions
12co-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 60Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.
PMID 36330313 | PMCID PMC9626241 | DOI 10.1155/2022/5498109 · Case reports in pediatrics · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MBTPS1 | “Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.” | 0.98 | hgnc_dict_v1 |
| phenotype | skeletal dysplasia | “Spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia associated with kyphosis and low bone mineral density, significantly delayed growth, and skeletal deformities.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient. In the current study, we examined a Saudi consanguineous family.” | 0.95 | saudi_context_rules_v1 |