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NPHP3 - nephrocystin 3
- Synonym(s) : CFAP31, cilia and flagella associated protein 31, FLJ30691, FLJ36696, KIAA2000, Meckel syndrome, type 7, MKS7, NPH3, SLSN3
- Previous symbols and names : nephronophthisis 3 (adolescent)
- Type : gene with protein product
- Chromosomal location : 3q22.1
- OMIM: 608002
- HGNC: 7907
- UniProtKB: Q7Z494
- Genatlas: NPHP3
- GenCC: NPHP3
- Ensembl: ENSG00000113971
- IUPHAR-DB: -
- Reactome: Q7Z494
- LOVD: NPHP3
Diseases list
- Disease-causing germline mutation(s) in Late-onset nephronophthisis
ORPHA:93589 
- Disease-causing germline mutation(s) in NPHP3-related Meckel-like syndrome
ORPHA:3032 - Disease-causing germline mutation(s) in Senior-Loken syndrome
ORPHA:3156 - Disease-causing germline mutation(s) (loss of function) in Infantile nephronophthisis
ORPHA:93591 - Disease-causing germline mutation(s) (loss of function) in Renal-hepatic-pancreatic dysplasia
ORPHA:294415
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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