Gene table of TCTN1 : tectonic family member 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with TCTN1OMIM linkNumber of associated genesgenes
PS213300JOUBERT SYNDROMEClinVar, OMIM 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

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Annotation of the gene TCTN1

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
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