Gene table of FKRP : fukutin related protein

Gene-disease associations table

Disease IDDisease nameSource of annotation with FKRPOMIM linkNumber of associated genesgenes
PS253600MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 24SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC
PS613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE BClinVar, OMIM, HUMSAVAR link to OMIM 7GMPPB, POMT2, LARGE1, FKRP, FKTN, POMGNT1, POMT1
PS236670MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE AClinVar, OMIM, HUMSAVAR link to OMIM 14GMPPB, POMT2, LARGE1, FKRP, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, POMGNT2, ISPD, DAG1, POMGNT1, POMK

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Annotation of the gene FKRP

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
catalytic activityGO:00038241.05
transferase activityGO:00167401.95