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GAD1 and Duchenne muscular dystrophy are reported together in 1 article.
Gene
GAD1
- HGNC
- HGNC:4092
2articles
2mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Duchenne muscular dystrophy 1cleft lip and palate 1developmental delay 1epilepsy 1intellectual disability 1
Reported variants (articles · ClinVar status)
Phenotype
Duchenne muscular dystrophy
40articles
40mentions
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 comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.
PMID 40400011 | PMCID PMC12096690 | DOI 10.1186/s40478-025-01996-z · Acta neuropathologica communications · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GAD1 | “Finally, we show localisation of DMD transcripts with GAD1+ GABAergic-associated transcripts in neurons including cerebellar Purkinje cells and interneurons, as well as in the majority of neocortical and hippocampal SLC17A7+ glutamatergic neurons, suggesting a role for dystrophin in signalling at the neuronal inhibitory and excitatory synapses.” | 0.98 | hgnc_dict_v1 |
| phenotype | Duchenne muscular dystrophy | “Mutations in the dystrophin gene (DMD) cause the severe muscle-wasting disease Duchenne muscular dystrophy (DMD).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SLC17A7 | “Finally, we show localisation of DMD transcripts with GAD1+ GABAergic-associated transcripts in neurons including cerebellar Purkinje cells and interneurons, as well as in the majority of neocortical and hippocampal SLC17A7+ glutamatergic neurons, suggesting a role for dystrophin in signalling at the neuronal inhibitory and excitatory synapses.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Additionally, there is a high incidence of intellectual disability and neurobehavioural comorbidities in individuals with DMD.” | 0.98 | phenotype_alias_lexicon_v2 |