Gene table of B9D1 : B9 domain containing 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with B9D1OMIM linkNumber of associated genesgenes
PS249000MECKEL SYNDROMEClinVar, OMIM link to OMIM 12NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231

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Annotation of the gene B9D1

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
signaling receptor activityGO:00380232.49
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
receptor activityGO:00048722.32
signal transducer activityGO:00048712.28
hedgehog receptor activityGO:00081588.64
transmembrane receptor activityGO:00996002.53