Disease ID | Disease name | Source of annotation with CCDC88C | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
236600 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 | ClinVar, OMIM | link to OMIM | 1 | CCDC88C |
PS164400 | SPINOCEREBELLAR ATAXIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 31 | ATXN10, 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 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
TCF dependent signaling in response to WNT | R-HSA-201681 | 5.36 |
Signaling by Wnt | R-HSA-195721 | 4.79 |
negative regulation of TCF-dependent signaling by DVL-interacting proteins | R-HSA-5368598 | 10.66 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
protein self-association | GO:0043621 | 5.93 |
PDZ domain binding | GO:0030165 | 5.22 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein domain specific binding | GO:0019904 | 3.32 |