Disease table of MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B OMIM ID: PS613155

Gene-disease associations table

GeneAssociated with MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
LARGE1ClinVar, OMIM, HUMSAVARHGNC link22q12.32PS613155, PS236670
POMGNT1ClinVar, OMIM, HUMSAVARHGNC link1p34.13PS613155, PS253600, PS236670
GMPPBClinVar, OMIM, HUMSAVARHGNC link3p21.313PS613155, PS253600, PS236670
FKTNClinVar, OMIM, HUMSAVARHGNC link9q31.24PS236670, PS613155, PS115200, PS253600
POMT1ClinVar, OMIM, HUMSAVARHGNC link9q34.133PS613155, PS253600, PS236670
POMT2ClinVar, OMIM, HUMSAVARHGNC link14q24.33PS613155, PS253600, PS236670
FKRPClinVar, OMIM, HUMSAVARHGNC link19q13.323PS613155, PS253600, PS236670

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
9q32FKTN, POMT1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
9q2FKTN, POMT1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
92FKTN, POMT1
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
POMGNT1YES1ZNF2020
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
POMGNT1POMT1No1POMK
POMGNT1FKRPNo2HAUS7, SLC39A4
FKTNFKRPNo1HLA-DPA1
POMT1POMT2No4HTR3C, TMEM92, ATP1B4, CD244
POMT1FKRPNo1SYNE4
POMT2FKRPNo1CD1B

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
POMGNT1FKTNYesbinding0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Other types of O-glycan biosynthesishsa005147.723POMGNT1, POMT1, POMT2

NET-GE enrichment

Term New enriched termICP valueGenes
Glycan biosynthesis and metabolismNEW4.780.002POMGNT1, POMT1, POMT2
Other types of O-glycan biosynthesis (hsa00514) -7.720.0POMGNT1, POMT1, POMT2
MetabolismNEW2.060.03POMGNT1, GMPPB, POMT1, POMT2
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.056POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
transferase activity (GO:0016740) 1.956POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
binding (GO:0005488) 0.184POMGNT1, GMPPB, POMT1, POMT2
transferase activity, transferring hexosyl groups (GO:0016758) 4.433POMGNT1, POMT1, POMT2
transferase activity, transferring glycosyl groups (GO:0016757) 4.083POMGNT1, POMT1, POMT2
cation binding (GO:0043169) 1.42POMT1, POMT2
dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169) 7.952POMT1, POMT2
ion binding (GO:0043167) 1.362POMT1, POMT2
protein binding (GO:0005515) 0.462POMGNT1, GMPPB
metal ion binding (GO:0046872) 1.412POMT1, POMT2
mannosyltransferase activity (GO:0000030) 6.522POMT1, POMT2

NET-GE enrichment

Term New enriched termICP valueGenes
dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169) -7.950.0POMT1, POMT2
catalytic activity (GO:0003824) -1.050.022POMT1, POMT2, LARGE, POMGNT1, FKRP, GMPPB, FKTN
transferase activity (GO:0016740) -1.950.008POMT1, POMT2, LARGE, POMGNT1, FKRP, GMPPB, FKTN
transferase activity, transferring glycosyl groups (GO:0016757) -4.080.0POMGNT1, POMT1, POMT2, LARGE
transferase activity, transferring hexosyl groups (GO:0016758) -4.430.0POMGNT1, POMT1, POMT2, LARGE
mannosyltransferase activity (GO:0000030) -6.520.001POMT1, POMT2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organic substance metabolic process (GO:0071704) 0.636POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
cellular process (GO:0009987) 0.266POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
cellular metabolic process (GO:0044237) 0.696POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
metabolic process (GO:0008152) 0.586POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
primary metabolic process (GO:0044238) 0.696POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
cellular protein metabolic process (GO:0044267) 1.635POMGNT1, POMT1, POMT2, FKRP, FKTN
single-organism metabolic process (GO:0044710) 1.635POMGNT1, POMT1, POMT2, FKRP, FKTN
carbohydrate metabolic process (GO:0005975) 3.265POMGNT1, POMT1, POMT2, FKRP, FKTN
protein glycosylation (GO:0006486) 4.25POMGNT1, POMT1, POMT2, FKRP, FKTN
cellular macromolecule metabolic process (GO:0044260) 0.935POMGNT1, POMT1, POMT2, FKRP, FKTN
protein metabolic process (GO:0019538) 1.455POMGNT1, POMT1, POMT2, FKRP, FKTN
glycosylation (GO:0070085) 4.165POMGNT1, POMT1, POMT2, FKRP, FKTN
cellular protein modification process (GO:0006464) 1.795POMGNT1, POMT1, POMT2, FKRP, FKTN
macromolecule metabolic process (GO:0043170) 0.835POMGNT1, POMT1, POMT2, FKRP, FKTN
macromolecule modification (GO:0043412) 1.735POMGNT1, POMT1, POMT2, FKRP, FKTN
macromolecule glycosylation (GO:0043413) 4.25POMGNT1, POMT1, POMT2, FKRP, FKTN
single-organism cellular process (GO:0044763) 0.655POMGNT1, POMT1, POMT2, FKRP, FKTN
protein modification process (GO:0036211) 1.795POMGNT1, POMT1, POMT2, FKRP, FKTN
single-organism carbohydrate metabolic process (GO:0044723) 3.425POMGNT1, POMT1, POMT2, FKRP, FKTN
protein O-linked glycosylation (GO:0006493) 5.135POMGNT1, POMT1, POMT2, FKRP, FKTN
single-organism process (GO:0044699) 0.485POMGNT1, POMT1, POMT2, FKRP, FKTN
organic substance biosynthetic process (GO:1901576) 1.344GMPPB, POMT1, POMT2, FKRP
carbohydrate derivative biosynthetic process (GO:1901137) 3.734GMPPB, POMT1, POMT2, FKRP
carbohydrate derivative metabolic process (GO:1901135) 3.074GMPPB, POMT1, POMT2, FKRP
mannosylation (GO:0097502) 6.264POMT1, POMT2, FKRP, FKTN
cellular biosynthetic process (GO:0044249) 1.374GMPPB, POMT1, POMT2, FKRP
biosynthetic process (GO:0009058) 1.324POMT2, POMT1, GMPPB, FKRP
protein mannosylation (GO:0035268) 6.734POMT1, POMT2, FKRP, FKTN
protein O-linked mannosylation (GO:0035269) 7.094POMT1, POMT2, FKRP, FKTN
developmental process (GO:0032502) 1.363POMT1, POMT2, FKTN
anatomical structure development (GO:0048856) 1.583POMT1, POMT2, FKTN
regulation of signal transduction (GO:0009966) 1.843POMT1, POMT2, FKTN
glycoprotein biosynthetic process (GO:0009101) 5.863POMT1, POMT2, FKRP
regulation of response to stress (GO:0080134) 2.533POMT1, POMT2, FKTN
regulation of cellular response to stress (GO:0080135) 3.43POMT1, POMT2, FKTN
regulation of response to stimulus (GO:0048583) 1.543POMT1, POMT2, FKTN
regulation of cellular process (GO:0050794) 0.53POMT1, POMT2, FKTN
single-organism developmental process (GO:0044767) 1.493POMT1, POMT2, FKTN
macromolecule biosynthetic process (GO:0009059) 1.613POMT1, POMT2, FKRP
biological regulation (GO:0065007) 0.393POMT1, POMT2, FKTN
cellular macromolecule biosynthetic process (GO:0034645) 1.663POMT1, POMT2, FKRP
regulation of signaling (GO:0023051) 1.723POMT1, POMT2, FKTN
regulation of cell communication (GO:0010646) 1.733POMT1, POMT2, FKTN
glycoprotein metabolic process (GO:0009100) 5.233POMT1, POMT2, FKRP
regulation of biological process (GO:0050789) 0.453POMT1, POMT2, FKTN
multicellular organismal process (GO:0032501) 1.452POMT1, POMT2
cell wall glycoprotein biosynthetic process (GO:0031506) 8.342POMT1, POMT2
single-multicellular organism process (GO:0044707) 1.782POMT1, POMT2
mannoprotein biosynthetic process (GO:0006057) 8.342POMT1, POMT2
mannoprotein metabolic process (GO:0006056) 8.342POMT1, POMT2
cellular component macromolecule biosynthetic process (GO:0070589) 8.342POMT1, POMT2
multicellular organism development (GO:0007275) 2.542POMT1, POMT2
cell wall macromolecule metabolic process (GO:0044036) 7.652POMT1, POMT2
regulation of endoplasmic reticulum unfolded protein response (GO:1900101) 6.42POMT1, POMT2
chain elongation of O-linked mannose residue (GO:0044845) 8.342POMT1, POMT2
cell wall mannoprotein biosynthetic process (GO:0000032) 8.342POMT1, POMT2
cell wall macromolecule biosynthetic process (GO:0044038) 8.342POMT1, POMT2

NET-GE enrichment

Term New enriched termICP valueGenes
carbohydrate metabolic process (GO:0005975) -3.260.044POMGNT1, GMPPB, POMT1, POMT2, LARGE
protein glycosylation (GO:0006486) -4.20.0POMGNT1, GMPPB, POMT1, POMT2, LARGE
negative regulation of stress-activated MAPK cascade (GO:0032873) NEW6.020.049POMGNT1, FKTN
carbohydrate derivative biosynthetic process (GO:1901137) -3.730.05FKRP, GMPPB, LARGE
negative regulation of stress-activated protein kinase signaling cascade (GO:0070303) NEW6.020.049POMGNT1, FKTN
glycosylation (GO:0070085) -4.160.0POMGNT1, GMPPB, POMT1, POMT2, LARGE
mannosylation (GO:0097502) -6.260.004POMT1, POMT2
negative regulation of JNK cascade (GO:0046329) NEW6.230.037POMGNT1, FKTN
macromolecule glycosylation (GO:0043413) -4.20.0POMGNT1, GMPPB, POMT1, POMT2, LARGE
single-organism carbohydrate metabolic process (GO:0044723) -3.420.0POMGNT1, GMPPB, POMT1, POMT2, LARGE
protein O-linked glycosylation (GO:0006493) -5.130.002POMGNT1, POMT1, POMT2
protein mannosylation (GO:0035268) -6.730.001POMT1, POMT2
protein O-linked mannosylation (GO:0035269) -7.090.001POMT1, POMT2
regulation of protein glycosylation (GO:0060049) NEW7.090.009POMGNT1, FKTN
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.66POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
cell part (GO:0044464) 0.116POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
cytoplasmic part (GO:0044444) 0.826POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
intracellular organelle (GO:0043229) 0.516POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
intracellular part (GO:0044424) 0.286POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
membrane-bounded organelle (GO:0043227) 0.476POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
organelle (GO:0043226) 0.46POMT1, POMT2, POMGNT1, FKRP, GMPPB, FKTN
integral component of membrane (GO:0016021) 1.145POMGNT1, POMT1, POMT2, FKRP, FKTN
membrane (GO:0016020) 0.685POMGNT1, POMT1, POMT2, FKRP, FKTN
intracellular organelle part (GO:0044446) 0.815POMGNT1, POMT1, POMT2, FKRP, FKTN
intrinsic component of membrane (GO:0031224) 1.135POMGNT1, POMT1, POMT2, FKRP, FKTN
membrane part (GO:0044425) 0.955POMGNT1, POMT1, POMT2, FKRP, FKTN
organelle part (GO:0044422) 0.795POMGNT1, POMT1, POMT2, FKRP, FKTN
endoplasmic reticulum (GO:0005783) 2.564POMT1, POMT2, FKRP, FKTN
protein complex (GO:0043234) 1.513POMT1, POMT2, FKRP
Golgi apparatus (GO:0005794) 2.73POMGNT1, FKRP, FKTN
macromolecular complex (GO:0032991) 1.353POMT1, POMT2, FKRP
organelle membrane (GO:0031090) 1.973POMGNT1, FKRP, FKTN
bounding membrane of organelle (GO:0098588) 2.393POMGNT1, FKRP, FKTN
Golgi membrane (GO:0000139) 3.283POMGNT1, FKRP, FKTN
membrane protein complex (GO:0098796) 2.843POMT1, POMT2, FKRP
Golgi apparatus part (GO:0044431) 3.03POMGNT1, FKRP, FKTN
extracellular region part (GO:0044421) 1.573FKRP, GMPPB, FKTN
dolichyl-phosphate-mannose-protein mannosyltransferase complex (GO:0031502) 8.422POMT1, POMT2
mannosyltransferase complex (GO:0031501) 7.722POMT1, POMT2
vesicle (GO:0031982) 1.642POMT1, GMPPB
catalytic complex (GO:1902494) 2.92POMT1, POMT2
membrane-bounded vesicle (GO:0031988) 1.712POMT1, GMPPB
endoplasmic reticulum part (GO:0044432) 2.732POMT1, POMT2
transferase complex (GO:1990234) 3.322POMT1, POMT2
endoplasmic reticulum membrane (GO:0005789) 2.952POMT1, POMT2
extracellular space (GO:0005615) 2.632FKRP, FKTN

NET-GE enrichment

Term New enriched termICP valueGenes
cis-Golgi network (GO:0005801) NEW6.160.018POMGNT1, FKTN
Golgi apparatus part (GO:0044431) -3.00.006POMGNT1, FKRP, FKTN, LARGE
bounding membrane of organelle (GO:0098588) -2.390.011POMGNT1, POMT1, POMT2, FKRP, FKTN
organelle membrane (GO:0031090) -1.970.038POMGNT1, POMT1, POMT2, FKRP, FKTN
Golgi membrane (GO:0000139) -3.280.047POMGNT1, FKRP, FKTN