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CSPP1 and skeletal dysplasia are reported together in 1 article.
Gene
CSPP1
- HGNC
- HGNC:26193
3articles
3mentions
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 60Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
PMID 24360808 | PMCID PMC3882733 | DOI 10.1016/j.ajhg.2013.11.019 · American journal of human genetics · 2014 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CSPP1 | “Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | skeletal dysplasia | “Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ARL13B | “Fibroblasts from affected individuals with CSPP1 mutations showed reduced numbers of primary cilia and/or short primary cilia, as well as reduced axonemal localization of ciliary proteins ARL13B and adenylyl cyclase III.” | 0.98 | hgnc_dict_v1 |