| Disease ID | Disease name | Source of annotation with MED25 | 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, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| 616449 | BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MED25 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| PPARA activates gene expression | R-HSA-1989781 | 6.18 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | R-HSA-400206 | 6.14 |
| Transcriptional regulation of white adipocyte differentiation | R-HSA-381340 | 6.7 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| transcription factor binding | GO:0008134 | 3.46 |
| nuclear hormone receptor binding | GO:0035257 | 4.7 |
| retinoid X receptor binding | GO:0046965 | 6.79 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| retinoic acid receptor binding | GO:0042974 | 5.83 |
| hormone receptor binding | GO:0051427 | 4.57 |
| receptor binding | GO:0005102 | 2.43 |