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IFT140 - intraflagellar transport 140
- Synonym(s) : gs114, KIAA0590
- Previous symbols and names : WD and tetratricopeptide repeats 2, WDTC2, intraflagellar transport 140 homolog (Chlamydomonas)
- Type : gene with protein product
- Chromosomal location : 16p13.3
- OMIM: 614620
- HGNC: 29077
- UniProtKB: Q96RY7
- Genatlas: IFT140
- GenCC: IFT140
- Ensembl: ENSG00000187535
- IUPHAR-DB: -
- Reactome: Q96RY7
- LOVD: IFT140
Diseases list
- Disease-causing germline mutation(s) in Jeune syndrome
ORPHA:474 
- Disease-causing germline mutation(s) in Leber congenital amaurosis
ORPHA:65 - Disease-causing germline mutation(s) in Retinitis pigmentosa
ORPHA:791 - Disease-causing germline mutation(s) in Saldino-Mainzer syndrome
ORPHA:140969 - Disease-causing germline mutation(s) (loss of function) in Autosomal dominant polycystic kidney disease
ORPHA:730
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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