Disease ID | Disease name | Source of annotation with NOP56 | 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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Ribosome biogenesis in eukaryotes | hsa03008 | 6.54 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Association of TriC/CCT with target proteins during biosynthesis | R-HSA-390471 | 8.12 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Protein folding | R-HSA-391251 | 7.23 |
Chaperonin-mediated protein folding | R-HSA-390466 | 7.4 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
organic cyclic compound binding | GO:0097159 | 1.05 |
poly(A) RNA binding | GO:0044822 | 2.69 |
enzyme binding | GO:0019899 | 2.27 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
histone methyltransferase binding | GO:1990226 | 8.35 |
snoRNA binding | GO:0030515 | 6.41 |
heterocyclic compound binding | GO:1901363 | 1.06 |
RNA binding | GO:0003723 | 2.36 |