Disease ID | Disease name | Source of annotation with FKRP | 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
GO term | GO ID | GO IC |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |