Disease ID | Disease name | Source of annotation with RRM2B | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS603041 | MITOCHONDRIAL DNA DEPLETION SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | RRM2B, SLC25A4, AGK, C10orf2, FBXL4, SUCLG1, MGME1, POLG, MPV17, TK2, SUCLA2, DGUOK, OPA1, TYMP |
PS157640 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS | ClinVar, OMIM | link to OMIM | 7 | SLC25A4, DNA2, C10orf2, RRM2B, RNASEH1, POLG, POLG2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
p53 signaling pathway | hsa04115 | 6.56 |
Glutathione metabolism | hsa00480 | 6.96 |
Pyrimidine metabolism | hsa00240 | 6.01 |
Purine metabolism | hsa00230 | 5.28 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Transcriptional Regulation by TP53 | R-HSA-3700989 | 6.73 |
Generic Transcription Pathway | R-HSA-212436 | 3.86 |
Gene Expression | R-HSA-74160 | 2.72 |
Metabolism of nucleotides | R-HSA-15869 | 6.7 |
Metabolism | R-HSA-1430728 | 2.34 |
TP53 Regulates Metabolic Genes | R-HSA-5628897 | 6.73 |
Synthesis and interconversion of nucleotide di- and triphosphates | R-HSA-499943 | 8.81 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
oxidoreductase activity, acting on CH or CH2 groups | GO:0016725 | 7.44 |
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor | GO:0004748 | 8.64 |
oxidoreductase activity, acting on CH or CH2 groups, disulfide as acceptor | GO:0016728 | 8.64 |
ribonucleoside-diphosphate reductase activity | GO:0061731 | 8.64 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
oxidoreductase activity | GO:0016491 | 3.12 |