Disease ID | Disease name | Source of annotation with MED13L | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
616789 | MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS | ClinVar, OMIM | link to OMIM | 1 | MED13L |
PS608808 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | GDF1, MED13L |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Thyroid hormone signaling pathway | hsa04919 | 5.82 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
PPARA activates gene expression | R-HSA-1989781 | 6.18 |
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 |
---|---|---|
RNA polymerase II transcription cofactor activity | GO:0001104 | 5.22 |
transcription factor activity, RNA polymerase II transcription factor binding | GO:0001076 | 4.84 |
transcription cofactor activity | GO:0003712 | 3.44 |
transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
transcription factor activity, protein binding | GO:0000988 | 3.35 |