Disease ID | Disease name | Source of annotation with POMGNT2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS236670 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | GMPPB, POMT2, LARGE1, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, FKRP, ISPD, POMGNT2, POMGNT1, POMK, DAG1 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
protein O-GlcNAc transferase activity | GO:0097363 | 9.05 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
UDP-glycosyltransferase activity | GO:0008194 | 4.81 |