Gene table of DAG1 : dystroglycan 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with DAG1OMIM 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
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 DAG1

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
KEGG pathwayKEGG IDKEGG IC
Hypertrophic cardiomyopathy (HCM)hsa054106.21
Dilated cardiomyopathyhsa054146.08
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
ECM-receptor interactionhsa045126.09
Viral myocarditishsa054166.45
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
ECM proteoglycansR-HSA-30001786.75
Non-integrin membrane-ECM interactionsR-HSA-30001717.1
Extracellular matrix organizationR-HSA-14742444.91
Integrin cell surface interactionsR-HSA-2160836.57
Associated GO terms for Molecular function
GO termGO IDGO IC
vinculin bindingGO:00171667.34
extracellular matrix bindingGO:00508405.79
SH2 domain bindingGO:00421696.34
molecular transducer activityGO:00600892.32
macromolecular complex bindingGO:00448772.61
dystroglycan bindingGO:00021627.54
structural molecule activityGO:00051983.1
glycoprotein bindingGO:00019485.11
cation bindingGO:00431691.4
ion bindingGO:00431671.36
actin bindingGO:00037793.74
calcium ion bindingGO:00055093.17
receptor activityGO:00048722.32
actinin bindingGO:00428056.3
metal ion bindingGO:00468721.41
tubulin bindingGO:00156314.1
alpha-actinin bindingGO:00513936.6
protein complex bindingGO:00324033.09
structural constituent of muscleGO:00083076.02
protein domain specific bindingGO:00199043.32
laminin bindingGO:00432366.34
laminin-1 bindingGO:00432377.79
cytoskeletal protein bindingGO:00080923.02
carbohydrate derivative bindingGO:00973672.03
virus receptor activityGO:00016185.49
protein bindingGO:00055150.46
bindingGO:00054880.18