Disease ID | Disease name | Source of annotation with MED23 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 31 | ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L |
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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 |
---|---|---|
protein binding | GO:0005515 | 0.46 |
transcription coactivator activity | GO:0003713 | 4.04 |
transcription cofactor activity | GO:0003712 | 3.44 |
binding | GO:0005488 | 0.18 |
transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
transcription factor activity, protein binding | GO:0000988 | 3.35 |