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ARMC9 and intellectual disability are reported together in 1 article.
Gene
ARMC9
- HGNC
- HGNC:20730
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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 ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
PMID 28625504 | PMCID PMC5501774 | DOI 10.1016/j.ajhg.2017.05.010 · American journal of human genetics · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ARMC9 | “Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |