Disease ID | Disease name | Source of annotation with POMGNT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 24 | SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC |
PS613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | GMPPB, POMT2, LARGE1, FKRP, FKTN, POMGNT1, POMT1 |
PS236670 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | GMPPB, POMT2, LARGE1, FKRP, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, POMGNT2, ISPD, DAG1, POMGNT1, POMK |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Other types of O-glycan biosynthesis | hsa00514 | 7.72 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity | GO:0047223 | 8.64 |
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 |