Disease ID | Disease name | Source of annotation with ATXN7 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS164400 | SPINOCEREBELLAR ATAXIA | ClinVar, OMIM | 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 |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
HATs acetylate histones | R-HSA-3214847 | 6.23 |
Chromatin organization | R-HSA-4839726 | 5.19 |
Chromatin modifying enzymes | R-HSA-3247509 | 5.19 |
GO term | GO ID | GO IC |
---|---|---|
chromatin binding | GO:0003682 | 3.64 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |