Gene table of NPHP1 : nephrocystin 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with NPHP1OMIM linkNumber of associated genesgenes
PS213300JOUBERT SYNDROMEOMIM link to OMIM 27TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2
266900SENIOR-LOKEN SYNDROME 1OMIM link to OMIM 1NPHP1
PS256100NEPHRONOPHTHISISClinVar, OMIM, HUMSAVAR link to OMIM 15NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83

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Annotation of the gene NPHP1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Anchoring of the basal body to the plasma membraneR-HSA-56209126.51
Organelle biogenesis and maintenanceR-HSA-18522414.63
Assembly of the primary ciliumR-HSA-56178335.44
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
protein bindingGO:00055150.46
structural molecule activityGO:00051983.1