Disease table of AURICULOCONDYLAR SYNDROME OMIM ID: PS602483

Gene-disease associations table

GeneAssociated with AURICULOCONDYLAR SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
EDN1ClinVar, OMIM, HUMSAVARHGNC link6p24.12612798, PS602483
PLCB4ClinVar, OMIM, HUMSAVARHGNC link20p12.31PS602483
GNAI3ClinVar, OMIM, HUMSAVARHGNC link1p13.31PS602483

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
EDN1YES8MKL1, NR1H4, RELA, JUN, STAT1, FOXO1, NFKB1, HIF1A0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
EDN1PLCB4No-16GNAI3, GNA14, GNAQ, GNG2, GNA11, GNAO1, PLCB1, PLCB2, GNA15, GNAI1, EPHA2, EGFR, OPN4, PLCB3, GNGT1, GNAZ
EDN1GNAI3Yesactivation, binding75ADCY9, PLCG1, LPAR5, BDKRB2, ADCY2, HCK, GNA11, GNA15, EDNRB, GPR17, CXCL12, AGT, ADCY6, EGFR, GNB1, KNG1, GNAI1, CASR, APP, LPAR3, NOS3, ADRB2, ADCY8, GNAO1, PLCB3, ANXA1, ADCY3, GNAZ, IL8, CCR5, FGR, MAPK14, GNGT1, SAA1, MCHR2, NMUR1, LPAR1, LPAR2, F2R, PRKAR2B, HRAS, ADCY7, MAPK8, ADCY4, ADCY5, PRKACG, NMU, FPR2, AKT1, RHOA, SRC, CCR7, PLCB1, XCR1, GNAS, ADCY1, GNA14, GNAL, RAC1, NMS, MAPK1, CCR3, APLN, BDKRB1, NMUR2, GNG2, OXTR, GRM1, MTRNR2L2, EGF, GNAQ, PMCH, PRKACB, PLCB2, MCHR1
PLCB4GNAI3Yesactivation, binding32GNGT2, GNAQ, GNG2, GNA11, GNG10, GNG13, EGFR, GNAI1, PRKCG, GNAO1, PLCB1, PLCB2, GNAT3, GNG12, GNAT2, GNGT1, GNG8, GNA15, GNG3, GNG4, GNB2, PLCB3, GNAT1, GNA14, IGF1R, PRKCB, GNB4, GNG11, GNG5, PRKCA, GNG7, GNAZ

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
Melanogenesishsa049165.973GNAI3, PLCB4, EDN1
Gastric acid secretionhsa049716.482GNAI3, PLCB4
Platelet activationhsa046115.662GNAI3, PLCB4
Gap junctionhsa045406.242GNAI3, PLCB4
cGMP-PKG signaling pathwayhsa040225.322GNAI3, PLCB4
Estrogen signaling pathwayhsa049156.112GNAI3, PLCB4
Pathways in cancerhsa052003.982GNAI3, PLCB4
Rap1 signaling pathwayhsa040154.972GNAI3, PLCB4
Chagas disease (American trypanosomiasis)hsa051425.992GNAI3, PLCB4
Retrograde endocannabinoid signalinghsa047236.032GNAI3, PLCB4
Long-term depressionhsa047306.742GNAI3, PLCB4
Cholinergic synapsehsa047255.882GNAI3, PLCB4
Glutamatergic synapsehsa047245.842GNAI3, PLCB4
Serotonergic synapsehsa047265.842GNAI3, PLCB4
Dopaminergic synapsehsa047285.692GNAI3, PLCB4
Circadian entrainmenthsa047136.112GNAI3, PLCB4
Chemokine signaling pathwayhsa040625.192GNAI3, PLCB4
Adrenergic signaling in cardiomyocyteshsa042615.442GNAI3, PLCB4
Oxytocin signaling pathwayhsa049215.42GNAI3, PLCB4

NET-GE enrichment

Term New enriched termICP valueGenes
Gastric acid secretion (hsa04971) -6.480.028GNAI3, PLCB4
Endocrine and other factor-regulated calcium reabsorption (hsa04961) NEW7.120.027PLCB4, EDN1
Platelet activation (hsa04611) -5.660.003GNAI3, PLCB4, EDN1
Gap junction (hsa04540) -6.240.001GNAI3, PLCB4, EDN1
cGMP-PKG signaling pathway (hsa04022) -5.320.006GNAI3, PLCB4, EDN1
Serotonergic synapse (hsa04726) -5.840.002GNAI3, PLCB4, EDN1
Rap1 signaling pathway (hsa04015) -4.970.017GNAI3, PLCB4, EDN1
Chagas disease (American trypanosomiasis) (hsa05142) -5.990.001GNAI3, PLCB4, EDN1
African trypanosomiasis (hsa05143) NEW7.680.013PLCB4, EDN1
Retrograde endocannabinoid signaling (hsa04723) -6.030.001GNAI3, PLCB4, EDN1
Circulatory systemNEW4.630.024GNAI3, PLCB4, EDN1
Oxytocin signaling pathway (hsa04921) -5.40.005GNAI3, PLCB4, EDN1
Cholinergic synapse (hsa04725) -5.880.001GNAI3, PLCB4, EDN1
Estrogen signaling pathway (hsa04915) -6.110.001GNAI3, PLCB4, EDN1
Melanogenesis (hsa04916) -5.970.001GNAI3, PLCB4, EDN1
Circadian entrainment (hsa04713) -6.110.047GNAI3, PLCB4
Chemokine signaling pathway (hsa04062) -5.190.007GNAI3, PLCB4, EDN1
Adrenergic signaling in cardiomyocytes (hsa04261) -5.440.004GNAI3, PLCB4, EDN1
Long-term depression (hsa04730) -6.740.019GNAI3, PLCB4
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
GPCR downstream signalingR-HSA-3883963.073GNAI3, PLCB4, EDN1
Signal TransductionR-HSA-1625821.783GNAI3, PLCB4, EDN1
Signaling by GPCRR-HSA-3727902.683GNAI3, PLCB4, EDN1
Opioid SignallingR-HSA-1118856.642GNAI3, PLCB4
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.262PLCB4, EDN1
PLC beta mediated eventsR-HSA-1120437.522GNAI3, PLCB4
G-protein mediated eventsR-HSA-1120407.492GNAI3, PLCB4
G alpha (q) signalling eventsR-HSA-4164765.422PLCB4, EDN1

NET-GE enrichment

Term New enriched termICP valueGenes
G-protein mediated events (R-HSA-112040) -7.490.003GNAI3, PLCB4
Opioid Signalling (R-HSA-111885) -6.640.009GNAI3, PLCB4
PLC beta mediated events (R-HSA-112043) -7.520.016GNAI3, PLCB4
G alpha (q) signalling events (R-HSA-416476) -5.420.05GNAI3, PLCB4, EDN1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183GNAI3, PLCB4, EDN1
protein binding (GO:0005515) 0.463GNAI3, PLCB4, EDN1
hydrolase activity (GO:0016787) 1.92GNAI3, PLCB4
cation binding (GO:0043169) 1.42GNAI3, PLCB4
ion binding (GO:0043167) 1.362GNAI3, PLCB4
catalytic activity (GO:0003824) 1.052GNAI3, PLCB4
signal transducer activity (GO:0004871) 2.282GNAI3, PLCB4
G-protein coupled receptor binding (GO:0001664) 4.182GNAI3, EDN1
receptor binding (GO:0005102) 2.432GNAI3, EDN1
metal ion binding (GO:0046872) 1.412GNAI3, PLCB4

NET-GE enrichment

Term New enriched termICP valueGenes
phosphoric ester hydrolase activity (GO:0042578) NEW3.820.027GNAI3, PLCB4, EDN1
G-protein coupled receptor binding (GO:0001664) -4.180.025GNAI3, EDN1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.693GNAI3, PLCB4, EDN1
single-organism metabolic process (GO:0044710) 1.633GNAI3, PLCB4, EDN1
cellular process (GO:0009987) 0.263GNAI3, PLCB4, EDN1
cellular metabolic process (GO:0044237) 0.693GNAI3, PLCB4, EDN1
regulation of cellular process (GO:0050794) 0.53GNAI3, PLCB4, EDN1
organic substance metabolic process (GO:0071704) 0.633GNAI3, PLCB4, EDN1
biological regulation (GO:0065007) 0.393GNAI3, PLCB4, EDN1
single-organism cellular process (GO:0044763) 0.653GNAI3, PLCB4, EDN1
small molecule metabolic process (GO:0044281) 2.383GNAI3, PLCB4, EDN1
metabolic process (GO:0008152) 0.583GNAI3, PLCB4, EDN1
negative regulation of biological process (GO:0048519) 1.333GNAI3, PLCB4, EDN1
regulation of biological process (GO:0050789) 0.453GNAI3, PLCB4, EDN1
single-organism process (GO:0044699) 0.483GNAI3, PLCB4, EDN1
signal transduction (GO:0007165) 1.283GNAI3, PLCB4, EDN1
negative regulation of phosphorus metabolic process (GO:0010563) 3.452GNAI3, EDN1
negative regulation of metabolic process (GO:0009892) 1.932GNAI3, EDN1
regulation of primary metabolic process (GO:0080090) 1.082GNAI3, EDN1
negative regulation of biosynthetic process (GO:0009890) 2.472GNAI3, EDN1
negative regulation of cellular biosynthetic process (GO:0031327) 2.492GNAI3, EDN1
regulation of transport (GO:0051049) 2.242PLCB4, EDN1
negative regulation of cellular metabolic process (GO:0031324) 2.012GNAI3, EDN1
regulation of cellular metabolic process (GO:0031323) 1.072GNAI3, EDN1
regulation of phosphate metabolic process (GO:0019220) 2.352GNAI3, EDN1
intracellular signal transduction (GO:0035556) 2.392PLCB4, EDN1
regulation of cyclic nucleotide biosynthetic process (GO:0030802) 4.852GNAI3, EDN1
negative regulation of nucleotide metabolic process (GO:0045980) 5.62GNAI3, EDN1
cellular component organization or biogenesis (GO:0071840) 1.222GNAI3, EDN1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552GNAI3, EDN1
regulation of localization (GO:0032879) 1.942PLCB4, EDN1
regulation of metabolic process (GO:0019222) 1.022GNAI3, EDN1
negative regulation of cAMP biosynthetic process (GO:0030818) 6.172GNAI3, EDN1
regulation of cAMP biosynthetic process (GO:0030817) 5.012GNAI3, EDN1
regulation of cAMP metabolic process (GO:0030814) 4.882GNAI3, EDN1
negative regulation of cAMP metabolic process (GO:0030815) 6.072GNAI3, EDN1
cellular component organization (GO:0016043) 1.242GNAI3, EDN1
regulation of ion transport (GO:0043269) 3.42PLCB4, EDN1
regulation of cellular biosynthetic process (GO:0031326) 1.382GNAI3, EDN1
regulation of molecular function (GO:0065009) 1.782GNAI3, EDN1
G-protein coupled receptor signaling pathway (GO:0007186) 2.642GNAI3, EDN1
transport (GO:0006810) 1.512GNAI3, EDN1
lipid metabolic process (GO:0006629) 2.682PLCB4, EDN1
negative regulation of transport (GO:0051051) 3.62PLCB4, EDN1
negative regulation of phosphate metabolic process (GO:0045936) 3.452GNAI3, EDN1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432GNAI3, EDN1
regulation of catalytic activity (GO:0050790) 1.972GNAI3, EDN1
regulation of biosynthetic process (GO:0009889) 1.372GNAI3, EDN1
regulation of phosphorus metabolic process (GO:0051174) 2.352GNAI3, EDN1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362GNAI3, EDN1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472GNAI3, EDN1
regulation of cyclic nucleotide metabolic process (GO:0030799) 4.692GNAI3, EDN1
establishment of localization (GO:0051234) 1.482GNAI3, EDN1
localization (GO:0051179) 1.42GNAI3, EDN1
negative regulation of purine nucleotide metabolic process (GO:1900543) 5.622GNAI3, EDN1
regulation of purine nucleotide metabolic process (GO:1900542) 4.412GNAI3, EDN1
negative regulation of nucleotide biosynthetic process (GO:0030809) 6.072GNAI3, EDN1
regulation of nucleotide biosynthetic process (GO:0030808) 4.792GNAI3, EDN1
negative regulation of purine nucleotide biosynthetic process (GO:1900372) 6.072GNAI3, EDN1
negative regulation of cyclic nucleotide metabolic process (GO:0030800) 5.992GNAI3, EDN1
negative regulation of cyclic nucleotide biosynthetic process (GO:0030803) 6.122GNAI3, EDN1
regulation of purine nucleotide biosynthetic process (GO:1900371) 4.82GNAI3, EDN1
phosphate-containing compound metabolic process (GO:0006796) 2.162GNAI3, PLCB4
phosphorus metabolic process (GO:0006793) 2.152GNAI3, PLCB4
organophosphate metabolic process (GO:0019637) 3.042GNAI3, PLCB4
regulation of nucleotide metabolic process (GO:0006140) 4.382GNAI3, EDN1
negative regulation of cellular process (GO:0048523) 1.412GNAI3, EDN1

NET-GE enrichment

Term New enriched termICP valueGenes
negative regulation of purine nucleotide metabolic process (GO:1900543) -5.620.009GNAI3, EDN1
negative regulation of nucleotide biosynthetic process (GO:0030809) -6.070.006GNAI3, EDN1
negative regulation of cAMP biosynthetic process (GO:0030818) -6.170.005GNAI3, EDN1
regulation of cAMP biosynthetic process (GO:0030817) -5.010.046GNAI3, EDN1
negative regulation of cAMP metabolic process (GO:0030815) -6.070.006GNAI3, EDN1
negative regulation of purine nucleotide biosynthetic process (GO:1900372) -6.070.006GNAI3, EDN1
negative regulation of cyclic nucleotide metabolic process (GO:0030800) -5.990.006GNAI3, EDN1
negative regulation of cyclic nucleotide biosynthetic process (GO:0030803) -6.120.005GNAI3, EDN1
negative regulation of nucleotide metabolic process (GO:0045980) -5.60.01GNAI3, EDN1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.013GNAI3, PLCB4, EDN1
intracellular membrane-bounded organelle (GO:0043231) 0.63GNAI3, PLCB4, EDN1
cell part (GO:0044464) 0.113GNAI3, PLCB4, EDN1
cytoplasmic part (GO:0044444) 0.823GNAI3, PLCB4, EDN1
intracellular organelle (GO:0043229) 0.513GNAI3, PLCB4, EDN1
intracellular part (GO:0044424) 0.283GNAI3, PLCB4, EDN1
membrane-bounded organelle (GO:0043227) 0.473GNAI3, PLCB4, EDN1
organelle (GO:0043226) 0.43GNAI3, PLCB4, EDN1
vesicle (GO:0031982) 1.642GNAI3, EDN1
secretory vesicle (GO:0099503) 4.02GNAI3, EDN1
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.122GNAI3, EDN1
cytoplasmic vesicle (GO:0031410) 2.872GNAI3, EDN1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762GNAI3, PLCB4
membrane-bounded vesicle (GO:0031988) 1.712GNAI3, EDN1
intracellular organelle part (GO:0044446) 0.812GNAI3, EDN1
non-membrane-bounded organelle (GO:0043228) 1.762GNAI3, PLCB4
intracellular vesicle (GO:0097708) 2.862GNAI3, EDN1
secretory granule (GO:0030141) 4.342GNAI3, EDN1
extracellular region part (GO:0044421) 1.572GNAI3, EDN1
organelle part (GO:0044422) 0.792GNAI3, EDN1