Disease ID | Disease name | Source of annotation with GMPPA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
615510 | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GMPPA |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Fructose and mannose metabolism | hsa00051 | 7.72 |
Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
Synthesis of GDP-mannose | R-HSA-446205 | 10.66 |
Post-translational protein modification | R-HSA-597592 | 4.54 |
GO term | GO ID | GO IC |
---|---|---|
nucleotidyltransferase activity | GO:0016779 | 4.81 |
transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |