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COG6 and intellectual disability are reported together in 1 article.
Gene
COG6
- HGNC
- HGNC:18621
3articles
3mentions
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 60A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.
PMID 23606727 | DOI 10.1136/jmedgenet-2013-101527 · Journal of medical genetics · 2013 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COG6 | “A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | STX6 | “Patient cells also exhibited pronounced deficiency of STX6, consistent with the established stabilising effect of COG6 on STX6.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “PURPOSE: To describe the clinical and molecular analysis of a large multiplex consanguineous Saudi family with an unusual constellation of severe intellectual disability, hypohidrosis, abnormal teeth, and acquired microcephaly.” | 0.95 | saudi_context_rules_v1 |