| Disease ID | Disease name | Source of annotation with MTMR2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of PIPs at the early endosome membrane | R-HSA-1660516 | 9.28 |
| Synthesis of PIPs at the late endosome membrane | R-HSA-1660517 | 9.66 |
| Phospholipid metabolism | R-HSA-1483257 | 5.83 |
| PI Metabolism | R-HSA-1483255 | 7.31 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| hydrolase activity | GO:0016787 | 1.9 |
| phosphatase activity | GO:0016791 | 4.11 |
| protein tyrosine/serine/threonine phosphatase activity | GO:0008138 | 5.91 |
| phosphatidylinositol phosphate phosphatase activity | GO:0052866 | 6.34 |
| protein tyrosine phosphatase activity | GO:0004725 | 5.09 |
| phosphatidylinositol monophosphate phosphatase activity | GO:0052744 | 7.1 |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity | GO:0052629 | 7.34 |
| phosphoprotein phosphatase activity | GO:0004721 | 4.55 |
| phosphatidylinositol-3-phosphatase activity | GO:0004438 | 7.1 |
| phosphatidylinositol bisphosphate phosphatase activity | GO:0034593 | 6.44 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| protein dimerization activity | GO:0046983 | 2.72 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |