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DAG1 - dystroglycan 1
- Synonym(s) : 156DAG, A3a, AGRNR, alpha-dystroglycan, beta-dystroglycan, DAG, dystrophin-associated glycoprotein-1
- Previous symbols and names : dystroglycan 1 (dystrophin-associated glycoprotein 1)
- Type : gene with protein product
- Chromosomal location : 3p21.31
- OMIM: 128239
- HGNC: 2666
- UniProtKB: Q14118
- Genatlas: DAG1
- GenCC: DAG1
- Ensembl: ENSG00000173402
- IUPHAR-DB: -
- Reactome: Q14118
- LOVD: DAG1
Diseases list
- Disease-causing germline mutation(s) in Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
ORPHA:280333 - Disease-causing germline mutation(s) in Muscle-eye-brain disease with bilateral multicystic leucodystrophy
ORPHA:370997 - Disease-causing germline mutation(s) (loss of function) in Walker-Warburg syndrome
ORPHA:899

Additional information
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