Gene table of CCDC88C : coiled-coil domain containing 88C

Gene-disease associations table

Disease IDDisease nameSource of annotation with CCDC88COMIM linkNumber of associated genesgenes
236600HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1ClinVar, OMIM link to OMIM 1CCDC88C
PS164400SPINOCEREBELLAR ATAXIAClinVar, OMIM, HUMSAVAR link to OMIM 31ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2

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Annotation of the gene CCDC88C

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
TCF dependent signaling in response to WNTR-HSA-2016815.36
Signaling by WntR-HSA-1957214.79
negative regulation of TCF-dependent signaling by DVL-interacting proteinsR-HSA-536859810.66
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
protein self-associationGO:00436215.93
PDZ domain bindingGO:00301655.22
bindingGO:00054880.18
protein bindingGO:00055150.46
protein domain specific bindingGO:00199043.32