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CPLANE1 - ciliogenesis and planar polarity effector complex subunit 1
- Synonym(s) : FLJ13231, Hug, JBTS17
- Previous symbols and names : C5orf42, chromosome 5 open reading frame 42
- Type : gene with protein product
- Chromosomal location : 5p13.2
- OMIM: 614571
- HGNC: 25801
- UniProtKB: Q9H799
- Genatlas: C5orf42
- GenCC: C5orf42
- Ensembl: ENSG00000197603
- IUPHAR-DB: -
- Reactome: -
- LOVD: CPLANE1
Diseases list
- Disease-causing germline mutation(s) in Joubert syndrome
ORPHA:475 
- Disease-causing germline mutation(s) in Orofaciodigital syndrome type 6
ORPHA:2754 - Major susceptibility factor in Monomelic amyotrophy
ORPHA:65684
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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