Disease table of MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE OMIM ID: 253290

Gene-disease associations table

GeneAssociated with MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CHRNA1ClinVar, OMIM, HUMSAVARHGNC link2q31.13236750, 253290, PS601462
CHRNDClinVar, OMIM, HUMSAVARHGNC link2q37.12PS601462, 253290
CHRNGClinVar, OMIM, HUMSAVARHGNC link2q37.12253290, 265000

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 1512CHRND, CHRNG
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
2q37.12CHRND, CHRNG
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
2q372CHRND, CHRNG
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2q33CHRNA1, CHRND, CHRNG
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2q3CHRNA1, CHRND, CHRNG
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
23CHRNA1, CHRND, CHRNG
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CHRNA1YES1AIRE0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CHRNA1CHRNDYes0
CHRNA1CHRNGYes0
CHRNDCHRNGNo1CHRNA1

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
CHRNA1CHRNDYesbinding1CHRNE
CHRNA1CHRNGYesbinding3SRC, RAPSN, PTK2
CHRNDCHRNGNo-3CHRNA4, CHRNA1, CHRNB1

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
Gene1Gene2Direct interactionMore information
CHRNA1CHRNDyes, complexPentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. [UniProt]
CHRNA1CHRNGyes, complexPentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. [UniProt]
CHRNDCHRNGyes, complexPentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Neuroactive ligand-receptor interactionhsa040804.583CHRND, CHRNG, CHRNA1

NET-GE enrichment

Term New enriched termICP valueGenes
Signaling molecules and interactionNEW3.090.006CHRND, CHRNG, CHRNA1
Neuroactive ligand-receptor interaction (hsa04080) -4.580.0CHRND, CHRNG, CHRNA1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Acetylcholine Binding And Downstream EventsR-HSA-1814319.183CHRND, CHRNG, CHRNA1
Activation of Nicotinic Acetylcholine ReceptorsR-HSA-6296029.183CHRND, CHRNG, CHRNA1
Postsynaptic nicotinic acetylcholine receptorsR-HSA-6223279.183CHRND, CHRNG, CHRNA1
Presynaptic nicotinic acetylcholine receptorsR-HSA-6223239.43CHRND, CHRNG, CHRNA1
Neuronal SystemR-HSA-1123164.823CHRND, CHRNG, CHRNA1
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellR-HSA-1123145.853CHRND, CHRNG, CHRNA1
Transmission across Chemical SynapsesR-HSA-1123155.283CHRND, CHRNG, CHRNA1
Highly sodium permeable acetylcholine nicotinic receptorsR-HSA-62958710.182CHRND, CHRNG

NET-GE enrichment

Term New enriched termICP valueGenes
Acetylcholine Binding And Downstream Events (R-HSA-181431) -9.180.0CHRND, CHRNG, CHRNA1
Highly sodium permeable acetylcholine nicotinic receptors (R-HSA-629587) -10.180.0CHRND, CHRNG
Activation of Nicotinic Acetylcholine Receptors (R-HSA-629602) -9.180.0CHRND, CHRNG, CHRNA1
Postsynaptic nicotinic acetylcholine receptors (R-HSA-622327) -9.180.0CHRND, CHRNG, CHRNA1
Presynaptic nicotinic acetylcholine receptors (R-HSA-622323) -9.40.0CHRND, CHRNG, CHRNA1
Neuronal System (R-HSA-112316) -4.820.0CHRND, CHRNG, CHRNA1
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell (R-HSA-112314) -5.850.0CHRND, CHRNG, CHRNA1
Transmission across Chemical Synapses (R-HSA-112315) -5.280.001CHRND, CHRNG, CHRNA1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183CHRND, CHRNG, CHRNA1
cation channel activity (GO:0005261) 4.043CHRND, CHRNG, CHRNA1
acetylcholine receptor activity (GO:0015464) 6.33CHRND, CHRNG, CHRNA1
molecular transducer activity (GO:0060089) 2.323CHRND, CHRNG, CHRNA1
receptor activity (GO:0004872) 2.323CHRND, CHRNG, CHRNA1
signal transducer activity (GO:0004871) 2.283CHRND, CHRNG, CHRNA1
signaling receptor activity (GO:0038023) 2.493CHRND, CHRNG, CHRNA1
cation binding (GO:0043169) 1.43CHRND, CHRNG, CHRNA1
ligand-gated ion channel activity (GO:0015276) 4.83CHRND, CHRNG, CHRNA1
ion binding (GO:0043167) 1.363CHRND, CHRNG, CHRNA1
channel activity (GO:0015267) 3.63CHRND, CHRNG, CHRNA1
passive transmembrane transporter activity (GO:0022803) 3.63CHRND, CHRNG, CHRNA1
extracellular ligand-gated ion channel activity (GO:0005230) 5.423CHRND, CHRNG, CHRNA1
neurotransmitter receptor activity (GO:0030594) 5.53CHRND, CHRNG, CHRNA1
transporter activity (GO:0005215) 2.573CHRND, CHRNG, CHRNA1
ion channel activity (GO:0005216) 3.713CHRND, CHRNG, CHRNA1
excitatory extracellular ligand-gated ion channel activity (GO:0005231) 5.733CHRND, CHRNG, CHRNA1
acetylcholine binding (GO:0042166) 6.563CHRND, CHRNG, CHRNA1
neurotransmitter binding (GO:0042165) 6.343CHRND, CHRNG, CHRNA1
cation transmembrane transporter activity (GO:0008324) 3.323CHRND, CHRNG, CHRNA1
substrate-specific transmembrane transporter activity (GO:0022891) 2.93CHRND, CHRNG, CHRNA1
substrate-specific transporter activity (GO:0022892) 2.723CHRND, CHRNG, CHRNA1
ion transmembrane transporter activity (GO:0015075) 3.043CHRND, CHRNG, CHRNA1
ammonium ion binding (GO:0070405) 5.813CHRND, CHRNG, CHRNA1
transmembrane transporter activity (GO:0022857) 2.823CHRND, CHRNG, CHRNA1
acetylcholine-activated cation-selective channel activity (GO:0004889) 6.653CHRND, CHRNG, CHRNA1
gated channel activity (GO:0022836) 3.963CHRND, CHRNG, CHRNA1
ligand-gated channel activity (GO:0022834) 4.83CHRND, CHRNG, CHRNA1
substrate-specific channel activity (GO:0022838) 3.673CHRND, CHRNG, CHRNA1
transmembrane receptor activity (GO:0099600) 2.533CHRND, CHRNG, CHRNA1
transmembrane signaling receptor activity (GO:0004888) 2.573CHRND, CHRNG, CHRNA1

NET-GE enrichment

Term New enriched termICP valueGenes
substrate-specific transmembrane transporter activity (GO:0022891) -2.90.041CHRND, CHRNG, CHRNA1
neurotransmitter receptor activity (GO:0030594) -5.50.005CHRNG, CHRNA1
substrate-specific transporter activity (GO:0022892) -2.720.006CHRND, CHRNG, CHRNA1
cation channel activity (GO:0005261) -4.040.001CHRND, CHRNG, CHRNA1
excitatory extracellular ligand-gated ion channel activity (GO:0005231) -5.730.0CHRND, CHRNG, CHRNA1
transporter activity (GO:0005215) -2.570.012CHRND, CHRNG, CHRNA1
extracellular ligand-gated ion channel activity (GO:0005230) -5.420.0CHRND, CHRNG, CHRNA1
cation transmembrane transporter activity (GO:0008324) -3.320.001CHRND, CHRNG, CHRNA1
ligand-gated ion channel activity (GO:0015276) -4.80.0CHRND, CHRNG, CHRNA1
acetylcholine-activated cation-selective channel activity (GO:0004889) -6.650.0CHRND, CHRNG, CHRNA1
ion transmembrane transporter activity (GO:0015075) -3.040.033CHRND, CHRNG, CHRNA1
transmembrane transporter activity (GO:0022857) -2.820.006CHRND, CHRNG, CHRNA1
channel activity (GO:0015267) -3.60.0CHRND, CHRNG, CHRNA1
gated channel activity (GO:0022836) -3.960.002CHRND, CHRNG, CHRNA1
ligand-gated channel activity (GO:0022834) -4.80.0CHRND, CHRNG, CHRNA1
passive transmembrane transporter activity (GO:0022803) -3.60.0CHRND, CHRNG, CHRNA1
substrate-specific channel activity (GO:0022838) -3.670.004CHRND, CHRNG, CHRNA1
ion channel activity (GO:0005216) -3.710.004CHRND, CHRNG, CHRNA1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
response to stimulus (GO:0050896) 1.223CHRND, CHRNG, CHRNA1
muscle system process (GO:0003012) 4.183CHRND, CHRNG, CHRNA1
signaling (GO:0023052) 3.253CHRND, CHRNG, CHRNA1
signal transduction (GO:0007165) 1.283CHRND, CHRNG, CHRNA1
cell surface receptor signaling pathway (GO:0007166) 2.093CHRND, CHRNG, CHRNA1
response to chemical (GO:0042221) 1.983CHRND, CHRNG, CHRNA1
synaptic transmission, cholinergic (GO:0007271) 6.23CHRND, CHRNG, CHRNA1
localization (GO:0051179) 1.43CHRND, CHRNG, CHRNA1
neuromuscular synaptic transmission (GO:0007274) 6.433CHRND, CHRNG, CHRNA1
regulation of biological process (GO:0050789) 0.453CHRND, CHRNG, CHRNA1
single-organism process (GO:0044699) 0.483CHRND, CHRNG, CHRNA1
response to endogenous stimulus (GO:0009719) 2.793CHRND, CHRNG, CHRNA1
muscle contraction (GO:0006936) 4.373CHRND, CHRNG, CHRNA1
cell surface receptor signaling pathway involved in cell-cell signaling (GO:1905114) 3.793CHRND, CHRNG, CHRNA1
biological regulation (GO:0065007) 0.393CHRND, CHRNG, CHRNA1
response to organic cyclic compound (GO:0014070) 3.073CHRND, CHRNG, CHRNA1
multicellular organismal process (GO:0032501) 1.453CHRND, CHRNG, CHRNA1
chemical synaptic transmission, postsynaptic (GO:0099565) 6.263CHRND, CHRNG, CHRNA1
cation transport (GO:0006812) 3.113CHRND, CHRNG, CHRNA1
ion transport (GO:0006811) 2.663CHRND, CHRNG, CHRNA1
transport (GO:0006810) 1.513CHRND, CHRNG, CHRNA1
regulation of cellular process (GO:0050794) 0.53CHRND, CHRNG, CHRNA1
ion transmembrane transport (GO:0034220) 3.083CHRND, CHRNG, CHRNA1
single-organism cellular process (GO:0044763) 0.653CHRND, CHRNG, CHRNA1
chemical synaptic transmission (GO:0007268) 3.983CHRND, CHRNG, CHRNA1
cell-cell signaling (GO:0007267) 3.353CHRND, CHRNG, CHRNA1
response to alkaloid (GO:0043279) 4.833CHRND, CHRNG, CHRNA1
establishment of localization (GO:0051234) 1.483CHRND, CHRNG, CHRNA1
response to organic substance (GO:0010033) 2.23CHRND, CHRNG, CHRNA1
system process (GO:0003008) 2.33CHRND, CHRNG, CHRNA1
single organism signaling (GO:0044700) 3.253CHRND, CHRNG, CHRNA1
transmembrane transport (GO:0055085) 2.723CHRND, CHRNG, CHRNA1
response to organonitrogen compound (GO:0010243) 3.23CHRND, CHRNG, CHRNA1
response to nicotine (GO:0035094) 5.783CHRND, CHRNG, CHRNA1
cell communication (GO:0007154) 3.043CHRND, CHRNG, CHRNA1
anterograde trans-synaptic signaling (GO:0098916) 3.983CHRND, CHRNG, CHRNA1
cellular process (GO:0009987) 0.263CHRND, CHRNG, CHRNA1
cation transmembrane transport (GO:0098655) 3.433CHRND, CHRNG, CHRNA1
response to nitrogen compound (GO:1901698) 3.123CHRND, CHRNG, CHRNA1
synaptic signaling (GO:0099536) 3.983CHRND, CHRNG, CHRNA1
trans-synaptic signaling (GO:0099537) 3.983CHRND, CHRNG, CHRNA1
developmental process (GO:0032502) 1.362CHRND, CHRNA1
regulation of membrane potential (GO:0042391) 3.892CHRND, CHRNA1
musculoskeletal movement (GO:0050881) 7.242CHRND, CHRNA1
growth (GO:0040007) 3.82CHRND, CHRNA1
developmental growth (GO:0048589) 4.052CHRND, CHRNA1
multicellular organismal movement (GO:0050879) 7.242CHRND, CHRNA1
skeletal muscle tissue growth (GO:0048630) 8.122CHRND, CHRNA1
striated muscle contraction (GO:0006941) 5.372CHRND, CHRNA1
single-organism developmental process (GO:0044767) 1.492CHRND, CHRNA1
skeletal muscle contraction (GO:0003009) 6.332CHRND, CHRNA1
neuromuscular process (GO:0050905) 5.272CHRND, CHRNA1
regulation of biological quality (GO:0065008) 1.682CHRND, CHRNA1
single-multicellular organism process (GO:0044707) 1.782CHRND, CHRNA1
neurological system process (GO:0050877) 2.642CHRND, CHRNA1

NET-GE enrichment

Term New enriched termICP valueGenes
single organism signaling (GO:0044700) -3.250.003CHRND, CHRNG, CHRNA1
musculoskeletal movement (GO:0050881) -7.240.001CHRND, CHRNA1
growth (GO:0040007) -3.80.05CHRND, CHRNA1
muscle contraction (GO:0006936) -4.370.003CHRND, CHRNG, CHRNA1
multicellular organismal movement (GO:0050879) -7.240.001CHRND, CHRNA1
regulation of membrane potential (GO:0042391) -3.890.0CHRND, CHRNG, CHRNA1
skeletal muscle tissue growth (GO:0048630) -8.120.0CHRND, CHRNA1
ion transport (GO:0006811) -2.660.018CHRND, CHRNG, CHRNA1
neuromuscular process (GO:0050905) -5.270.003CHRND, CHRNA1
ion transmembrane transport (GO:0034220) -3.080.004CHRND, CHRNG, CHRNA1
muscle system process (GO:0003012) -4.180.007CHRND, CHRNG, CHRNA1
signaling (GO:0023052) -3.250.003CHRND, CHRNG, CHRNA1
synaptic transmission (GO:0007268) -3.980.024CHRND, CHRNG, CHRNA1
cell-cell signaling (GO:0007267) -3.350.003CHRND, CHRNG, CHRNA1
cell communication (GO:0007154) -3.040.005CHRND, CHRNG, CHRNA1
developmental growth (GO:0048589) -4.050.012CHRND, CHRNA1
cation transmembrane transport (GO:0098655) -3.430.034CHRND, CHRNG, CHRNA1
transmembrane transport (GO:0055085) -2.720.015CHRND, CHRNG, CHRNA1
cation transport (GO:0006812) -3.110.005CHRND, CHRNG, CHRNA1
system process (GO:0003008) -2.30.012CHRND, CHRNG, CHRNA1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.973CHRND, CHRNG, CHRNA1
acetylcholine-gated channel complex (GO:0005892) 6.673CHRND, CHRNG, CHRNA1
ion channel complex (GO:0034702) 4.183CHRND, CHRNG, CHRNA1
synapse (GO:0045202) 3.583CHRND, CHRNG, CHRNA1
cell junction (GO:0030054) 2.753CHRND, CHRNG, CHRNA1
synaptic membrane (GO:0097060) 4.223CHRND, CHRNG, CHRNA1
integral component of membrane (GO:0016021) 1.143CHRND, CHRNG, CHRNA1
membrane (GO:0016020) 0.683CHRND, CHRNG, CHRNA1
plasma membrane receptor complex (GO:0098802) 4.633CHRND, CHRNG, CHRNA1
synapse part (GO:0044456) 3.423CHRND, CHRNG, CHRNA1
intrinsic component of membrane (GO:0031224) 1.133CHRND, CHRNG, CHRNA1
plasma membrane part (GO:0044459) 1.953CHRND, CHRNG, CHRNA1
transmembrane transporter complex (GO:1902495) 4.063CHRND, CHRNG, CHRNA1
transporter complex (GO:1990351) 4.043CHRND, CHRNG, CHRNA1
postsynaptic membrane (GO:0045211) 4.473CHRND, CHRNG, CHRNA1
plasma membrane (GO:0005886) 1.393CHRND, CHRNG, CHRNA1
protein complex (GO:0043234) 1.513CHRND, CHRNG, CHRNA1
receptor complex (GO:0043235) 4.013CHRND, CHRNG, CHRNA1
macromolecular complex (GO:0032991) 1.353CHRND, CHRNG, CHRNA1
cell part (GO:0044464) 0.113CHRND, CHRNG, CHRNA1
plasma membrane protein complex (GO:0098797) 3.553CHRND, CHRNG, CHRNA1
membrane protein complex (GO:0098796) 2.843CHRND, CHRNG, CHRNA1
membrane part (GO:0044425) 0.953CHRND, CHRNG, CHRNA1

NET-GE enrichment

Term New enriched termICP valueGenes
synaptic membrane (GO:0097060) -4.220.002CHRND, CHRNG, CHRNA1
receptor complex (GO:0043235) -4.010.002CHRND, CHRNG, CHRNA1
transmembrane transporter complex (GO:1902495) -4.060.0CHRND, CHRNG, CHRNA1
transporter complex (GO:1990351) -4.040.001CHRND, CHRNG, CHRNA1
acetylcholine-gated channel complex (GO:0005892) -6.670.0CHRND, CHRNG, CHRNA1
postsynaptic membrane (GO:0045211) -4.470.0CHRND, CHRNG, CHRNA1
synapse part (GO:0044456) -3.420.0CHRND, CHRNG, CHRNA1
ion channel complex (GO:0034702) -4.180.001CHRND, CHRNG, CHRNA1
plasma membrane part (GO:0044459) -1.950.037CHRND, CHRNG, CHRNA1
cell junction (GO:0030054) -2.750.004CHRND, CHRNG, CHRNA1