Disease table of ARTHROGRYPOSIS, DISTAL, TYPE 2B OMIM ID: 601680

Gene-disease associations table

GeneAssociated with ARTHROGRYPOSIS, DISTAL, TYPE 2B inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MYH3ClinVar, OMIM, HUMSAVARHGNC link17p13.13193700, 178110, 601680
TNNT3ClinVar, OMIM, HUMSAVARHGNC link11p15.51601680
TNNI2ClinVar, OMIM, HUMSAVARHGNC link11p15.51601680
TPM2ClinVar, OMIM, HUMSAVARHGNC link9p13.33601680, PS161800, 108120

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
11p15.52TNNT3, TNNI2
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
11p152TNNT3, TNNI2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11p12TNNT3, TNNI2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
11p2TNNT3, TNNI2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
112TNNT3, TNNI2
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MYH3TPM2Yes3ACTN2, TNNI1, TPM2
TNNT3TNNI2Yes3TNNC1, TNNT3, TRIM63
TNNT3TPM2No1TPM1

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
MYH3TNNT3Yesbinding30TPM1, TMOD1, DES, MYL4, VIM, MYH6, MYBPC1, TPM2, MYL1, TNNT2, MYH7, MYBPC2, MYH2, MYH1, NEB, TNNC2, MYH8, TNNT1, MYH4, TNNI3, MYBPC3, MYL3, ACTN2, MYL2, TNNC1, TNNI1, TPM3, TTN, TNNI2, TPM4
MYH3TNNI2Yesbinding33TPM1, TMOD1, DES, MYL4, TNNT3, VIM, MYL3, MYH1, MYBPC1, TPM2, MYLPF, MYL1, TNNT2, MYH6, MYBPC2, MYH2, MYH14, NEB, TNNC2, MYH8, TNNT1, MYH4, TNNI3, MYH7, MYBPC3, TNNI1, ACTN2, MYL2, TNNC1, MYH13, TPM3, TTN, TPM4
MYH3TPM2Yesbinding40TPM1, TMOD1, TNNI1, MYH8, MYH9, VIM, MYH6, MYH1, MYL6B, MYBPC3, TNNC2, MYBPC1, TNNT1, MYL1, MYH11, MYH2, MYBPC2, ACTA1, MYH14, NEB, MYL2, ACTG2, MYL4, TPM3, ACTA2, MYH4, ACTC1, TNNI3, MYL9, MYH7, TNNT2, MYL12B, ACTN2, TTN, DES, TNNT3, MYL3, TNNC1, TNNI2, TPM4
TNNT3TNNI2Yesbinding30TPM1, TMOD1, DES, MYL4, VIM, MYH3, MYBPC1, TPM2, MYL1, TNNT2, MYH6, MYBPC2, MYH2, MYH1, NEB, TNNC2, MYH8, TNNT1, MYH4, TNNI3, MYH7, MYBPC3, MYL3, ACTN2, MYL2, TNNC1, TNNI1, TPM3, TTN, TPM4
TNNT3TPM2Yesbinding30TPM1, TMOD1, DES, MYL4, VIM, MYH3, MYBPC1, TNNC2, MYL1, TNNT2, MYH6, MYBPC2, MYH2, MYH1, NEB, MYL2, MYH8, TNNT1, MYH4, TNNI3, MYH7, MYBPC3, MYL3, ACTN2, TNNC1, TNNI1, TPM3, TTN, TNNI2, TPM4
TNNI2TPM2Yesbinding31TPM1, TMOD1, DES, MYL4, TNNT3, VIM, MYL3, MYH1, MYBPC1, TNNC2, MYL1, TNNT2, MYH3, MYBPC2, MYH2, MYH14, NEB, MYL2, MYH6, MYH8, TNNT1, MYH4, TNNI3, MYH7, MYBPC3, ACTN2, TTN, TNNI1, TPM3, TNNC1, TPM4

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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Muscle contractionR-HSA-3970146.964TPM2, TNNT3, TNNI2, MYH3
Striated Muscle ContractionR-HSA-3905227.814TPM2, TNNT3, TNNI2, MYH3

NET-GE enrichment

Term New enriched termICP valueGenes
Muscle contraction (R-HSA-397014) -6.960.0TPM2, TNNT3, TNNI2, MYH3
Striated Muscle Contraction (R-HSA-390522) -7.810.0TPM2, TNNT3, TNNI2, MYH3
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
actin binding (GO:0003779) 3.744TPM2, TNNT3, TNNI2, MYH3
binding (GO:0005488) 0.184TPM2, TNNT3, TNNI2, MYH3
protein binding (GO:0005515) 0.464TPM2, TNNT3, TNNI2, MYH3
cytoskeletal protein binding (GO:0008092) 3.024TPM2, TNNT3, TNNI2, MYH3
hydrolase activity (GO:0016787) 1.92TNNT3, MYH3
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032TNNT3, MYH3
ATPase activity, coupled (GO:0042623) 3.972TNNT3, MYH3
nucleoside-triphosphatase activity (GO:0017111) 3.092TNNT3, MYH3
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032TNNT3, MYH3
catalytic activity (GO:0003824) 1.052TNNT3, MYH3
ATPase activity (GO:0016887) 3.652TNNT3, MYH3
pyrophosphatase activity (GO:0016462) 3.042TNNT3, MYH3

NET-GE enrichment

Term New enriched termICP valueGenes
cytoskeletal protein binding (GO:0008092) -3.020.013TPM2, TNNT3, TNNI2, MYH3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.454TPM2, TNNT3, TNNI2, MYH3
actin filament-based process (GO:0030029) 3.944TPM2, TNNT3, TNNI2, MYH3
muscle contraction (GO:0006936) 4.374TPM2, TNNT3, TNNI2, MYH3
cellular process (GO:0009987) 0.264TPM2, TNNT3, TNNI2, MYH3
actin-myosin filament sliding (GO:0033275) 6.094TPM2, TNNT3, TNNI2, MYH3
movement of cell or subcellular component (GO:0006928) 2.614TPM2, TNNT3, TNNI2, MYH3
muscle filament sliding (GO:0030049) 6.094TPM2, TNNT3, TNNI2, MYH3
actin filament-based movement (GO:0030048) 5.544TPM2, TNNT3, TNNI2, MYH3
muscle system process (GO:0003012) 4.184TPM2, TNNT3, TNNI2, MYH3
single-organism cellular process (GO:0044763) 0.654TPM2, TNNT3, TNNI2, MYH3
actin-mediated cell contraction (GO:0070252) 5.884TPM2, TNNT3, TNNI2, MYH3
single-organism process (GO:0044699) 0.484TPM2, TNNT3, TNNI2, MYH3
system process (GO:0003008) 2.34TPM2, TNNT3, TNNI2, MYH3
striated muscle contraction (GO:0006941) 5.373TNNT3, TNNI2, MYH3
biological regulation (GO:0065007) 0.393TNNT3, TNNI2, TPM2
skeletal muscle contraction (GO:0003009) 6.333TNNT3, TNNI2, MYH3
regulation of hydrolase activity (GO:0051336) 2.532TNNT3, TPM2
regulation of ATPase activity (GO:0043462) 5.592TNNT3, TPM2
regulation of system process (GO:0044057) 3.532TNNT3, TNNI2
regulation of muscle contraction (GO:0006937) 4.752TNNT3, TNNI2
regulation of catalytic activity (GO:0050790) 1.972TNNT3, TPM2
regulation of muscle system process (GO:0090257) 4.512TNNT3, TNNI2
regulation of multicellular organismal process (GO:0051239) 1.872TNNT3, TNNI2
regulation of molecular function (GO:0065009) 1.782TNNT3, TPM2
regulation of biological process (GO:0050789) 0.452TNNT3, TNNI2

NET-GE enrichment

Term New enriched termICP valueGenes
striated muscle contraction (GO:0006941) -5.370.001TNNT3, TNNI2, MYH3
regulation of ATPase activity (GO:0043462) -5.590.027TNNT3, TPM2
actin filament-based process (GO:0030029) -3.940.0TPM2, TNNT3, TNNI2, MYH3
muscle contraction (GO:0006936) -4.370.0TPM2, TNNT3, TNNI2, MYH3
muscle system process (GO:0003012) -4.180.001TPM2, TNNT3, TNNI2, MYH3
cellular component movement (GO:0006928) -2.610.004TPM2, TNNT3, TNNI2, MYH3
muscle filament sliding (GO:0030049) -6.090.0TPM2, TNNT3, TNNI2, MYH3
actin filament-based movement (GO:0030048) -5.540.0TPM2, TNNT3, TNNI2, MYH3
actin-myosin filament sliding (GO:0033275) -6.090.0TPM2, TNNT3, TNNI2, MYH3
actin-mediated cell contraction (GO:0070252) -5.880.0TPM2, TNNT3, TNNI2, MYH3
skeletal muscle contraction (GO:0003009) -6.330.0TNNT3, TNNI2, MYH3
system process (GO:0003008) -2.30.002TPM2, TNNT3, TNNI2, MYH3
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytosol (GO:0005829) 1.684TPM2, TNNT3, TNNI2, MYH3
cell part (GO:0044464) 0.114TPM2, TNNT3, TNNI2, MYH3
intracellular organelle part (GO:0044446) 0.814TPM2, TNNT3, TNNI2, MYH3
cytoplasmic part (GO:0044444) 0.824TPM2, TNNT3, TNNI2, MYH3
cytoskeletal part (GO:0044430) 2.494TPM2, TNNT3, TNNI2, MYH3
intracellular part (GO:0044424) 0.284TPM2, TNNT3, TNNI2, MYH3
organelle part (GO:0044422) 0.794TPM2, TNNT3, TNNI2, MYH3
contractile fiber part (GO:0044449) 4.534TPM2, TNNT3, TNNI2, MYH3
protein complex (GO:0043234) 1.513TNNT3, TNNI2, MYH3
intracellular organelle (GO:0043229) 0.513TNNI2, TPM2, MYH3
macromolecular complex (GO:0032991) 1.353TNNT3, TNNI2, MYH3
organelle (GO:0043226) 0.43TNNI2, TPM2, MYH3
cytoplasm (GO:0005737) 1.012TPM2, MYH3
non-membrane-bounded organelle (GO:0043228) 1.762TPM2, MYH3
membrane-bounded organelle (GO:0043227) 0.472TNNI2, MYH3
intracellular non-membrane-bounded organelle (GO:0043232) 1.762TPM2, MYH3
troponin complex (GO:0005861) 7.722TNNT3, TNNI2

NET-GE enrichment

Term New enriched termICP valueGenes
cytosol (GO:0005829) -1.680.01TPM2, TNNT3, TNNI2, MYH3
cytoskeletal part (GO:0044430) -2.490.001TPM2, TNNT3, TNNI2, MYH3
troponin complex (GO:0005861) -7.720.0TNNT3, TNNI2
contractile fiber part (GO:0044449) -4.530.0TPM2, TNNT3, TNNI2, MYH3