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COPB1 and intellectual disability are reported together in 2 articles.
Gene
COPB1
- HGNC
- HGNC:2231
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
2 records shown · first 60Expanding the clinical and immunological phenotypes of COPB1 deficiency.
PMID 41676145 | PMCID PMC12886506 | DOI 10.3389/fimmu.2026.1752685 · Frontiers in immunology · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COPB1 | “Expanding the clinical and immunological phenotypes of COPB1 deficiency.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Homozygous mutations cause Baralle-Macken syndrome that characterized by global developmental delay, severe intellectual disability, and early-onset cataracts.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CD28 | “Functional proliferation of peripheral blood mononuclear cells (PBMCs) was assessed using dye labeling, CD3/CD28 activation, and flow cytometric analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Homozygous mutations cause Baralle-Macken syndrome that characterized by global developmental delay, severe intellectual disability, and early-onset cataracts.” | 0.98 | phenotype_alias_lexicon_v2 |
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
PMID 33632302 | PMCID PMC7908744 | DOI 10.1186/s13073-021-00850-w · Genome medicine · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COPB1 | “Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “RESULTS: We present a new recessive coatopathy typified by severe developmental delay and cataracts and variable microcephaly.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1651T>G | “In vitro modelling of the COPB1 c.1651T>G p.Phe551Val variant in Family 2 identifies defective Golgi to ER recycling of this mutant β-COP, with the mutant protein being retarded in the Golgi.” | 0.95 | hgvs_regex_v1 |