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OFD1 - OFD1 centriole and centriolar satellite protein
- Synonym(s) : 71-7A, JBTS10, Joubert syndrome type 10
- Previous symbols and names : CXorf5, RP23, oral-facial-digital syndrome 1, retinitis pigmentosa 23 (X-linked recessive)
- Type : gene with protein product
- Chromosomal location : Xp22.2
- OMIM: 300170
- HGNC: 2567
- UniProtKB: O75665
- Genatlas: OFD1
- GenCC: OFD1
- Ensembl: ENSG00000046651
- IUPHAR-DB: -
- Reactome: O75665
- LOVD: OFD1
Diseases list
- Disease-causing germline mutation(s) in Joubert syndrome
ORPHA:475 
- Disease-causing germline mutation(s) in Orofaciodigital syndrome type 6
ORPHA:2754 - Disease-causing germline mutation(s) in Primary ciliary dyskinesia
ORPHA:244 - Disease-causing germline mutation(s) in Retinitis pigmentosa
ORPHA:791 - Disease-causing germline mutation(s) (loss of function) in Orofaciodigital syndrome type 1
ORPHA:2750
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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