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RAI1 - retinoic acid induced 1
- Synonym(s) : DKFZP434A139, KIAA1820, MGC12824, SMS
- Previous symbols and names : SMCR, Smith-Magenis syndrome chromosome region
- Type : gene with protein product
- Chromosomal location : 17p11.2
- OMIM: 607642
- HGNC: 9834
- UniProtKB: Q7Z5J4
- Genatlas: RAI1
- GenCC: RAI1
- Ensembl: ENSG00000108557
- IUPHAR-DB: -
- Reactome: Q7Z5J4
- LOVD: RAI1
Diseases list
- Disease-causing germline mutation(s) in Smith-Magenis syndrome
ORPHA:819 
- Role in the phenotype of 17p11.2 microduplication syndrome
ORPHA:1713 - Role in the phenotype of PMP22-RAI1 contiguous gene duplication syndrome
ORPHA:477817
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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