Disease table of ACRODYSOSTOSIS OMIM ID: PS101800

Gene-disease associations table

GeneAssociated with ACRODYSOSTOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PDE4DClinVar, OMIM, HUMSAVARHGNC link5q12.12PS101800, 606799
PRKAR1AClinVar, OMIM, HUMSAVARHGNC link17q24.24PS101800, 255960, 610489, 160980

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PDE4DPRKAR1ANo4GRB2, GSK3B, PRKACA, CDK2

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
PDE4DPRKAR1ANo-6PHLPP1, PHLPP2, PRKACG, UBC, PRKACA, PRKACB

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
PDE4DPRKAR1Amaybe, indirectThey may interact indirectly becasue PDE4D interacts with PRKAR2A and B. [UniProt ]
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Morphine addiction (hsa05032) NEW6.150.018PRKAR1A, PDE4D
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Opioid SignallingR-HSA-1118856.642PRKAR1A, PDE4D
DARPP-32 eventsR-HSA-1800248.42PRKAR1A, PDE4D
Signal TransductionR-HSA-1625821.782PRKAR1A, PDE4D
Signaling by GPCRR-HSA-3727902.682PRKAR1A, PDE4D

NET-GE enrichment

Term New enriched termICP valueGenes
Opioid Signalling (R-HSA-111885) -6.640.005PRKAR1A, PDE4D
DARPP-32 events (R-HSA-180024) -8.40.0PRKAR1A, PDE4D
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cAMP binding (GO:0030552) 6.562PRKAR1A, PDE4D
cyclic nucleotide binding (GO:0030551) 6.132PRKAR1A, PDE4D
ubiquitin protein ligase binding (GO:0031625) 4.172PRKAR1A, PDE4D
ubiquitin-like protein ligase binding (GO:0044389) 4.152PRKAR1A, PDE4D
adenyl nucleotide binding (GO:0030554) 2.42PRKAR1A, PDE4D
carbohydrate derivative binding (GO:0097367) 2.032PRKAR1A, PDE4D
organic cyclic compound binding (GO:0097159) 1.052PRKAR1A, PDE4D
ribonucleotide binding (GO:0032553) 2.192PRKAR1A, PDE4D
enzyme binding (GO:0019899) 2.272PRKAR1A, PDE4D
nucleotide binding (GO:0000166) 1.962PRKAR1A, PDE4D
small molecule binding (GO:0036094) 1.892PRKAR1A, PDE4D
catalytic activity (GO:0003824) 1.052PRKAR1A, PDE4D
adenyl ribonucleotide binding (GO:0032559) 2.412PRKAR1A, PDE4D
binding (GO:0005488) 0.182PRKAR1A, PDE4D
protein binding (GO:0005515) 0.462PRKAR1A, PDE4D
purine ribonucleotide binding (GO:0032555) 2.22PRKAR1A, PDE4D
purine nucleotide binding (GO:0017076) 2.192PRKAR1A, PDE4D
heterocyclic compound binding (GO:1901363) 1.062PRKAR1A, PDE4D
nucleoside phosphate binding (GO:1901265) 1.962PRKAR1A, PDE4D

NET-GE enrichment

Term New enriched termICP valueGenes
cAMP binding (GO:0030552) -6.560.0PRKAR1A, PDE4D
cyclic nucleotide binding (GO:0030551) -6.130.002PRKAR1A, PDE4D
ubiquitin protein ligase binding (GO:0031625) -4.170.046PRKAR1A, PDE4D
small conjugating protein ligase binding (GO:0044389) -4.150.046PRKAR1A, PDE4D
SH3 domain binding (GO:0017124) NEW4.980.036PRKAR1A, PDE4D
protein kinase A binding (GO:0051018) NEW6.020.002PRKAR1A, PDE4D
protein kinase A regulatory subunit binding (GO:0034237) NEW6.970.0PRKAR1A, PDE4D
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular response to endogenous stimulus (GO:0071495) 3.332PRKAR1A, PDE4D
cellular response to nitrogen compound (GO:1901699) 3.792PRKAR1A, PDE4D
negative regulation of metabolic process (GO:0009892) 1.932PRKAR1A, PDE4D
regulation of primary metabolic process (GO:0080090) 1.082PRKAR1A, PDE4D
regulation of metabolic process (GO:0019222) 1.022PRKAR1A, PDE4D
negative regulation of cellular metabolic process (GO:0031324) 2.012PRKAR1A, PDE4D
regulation of cellular metabolic process (GO:0031323) 1.072PRKAR1A, PDE4D
biological regulation (GO:0065007) 0.392PRKAR1A, PDE4D
regulation of phosphorus metabolic process (GO:0051174) 2.352PRKAR1A, PDE4D
signal transduction (GO:0007165) 1.282PRKAR1A, PDE4D
cellular response to chemical stimulus (GO:0070887) 2.572PRKAR1A, PDE4D
regulation of phosphate metabolic process (GO:0019220) 2.352PRKAR1A, PDE4D
intracellular signal transduction (GO:0035556) 2.392PRKAR1A, PDE4D
regulation of biological process (GO:0050789) 0.452PRKAR1A, PDE4D
single-organism process (GO:0044699) 0.482PRKAR1A, PDE4D
response to endogenous stimulus (GO:0009719) 2.792PRKAR1A, PDE4D
cellular response to stimulus (GO:0051716) 1.972PRKAR1A, PDE4D
negative regulation of macromolecule metabolic process (GO:0010605) 2.012PRKAR1A, PDE4D
response to nitrogen compound (GO:1901698) 3.122PRKAR1A, PDE4D
cellular response to organonitrogen compound (GO:0071417) 3.872PRKAR1A, PDE4D
negative regulation of phosphorus metabolic process (GO:0010563) 3.452PRKAR1A, PDE4D
regulation of protein metabolic process (GO:0051246) 1.932PRKAR1A, PDE4D
regulation of macromolecule metabolic process (GO:0060255) 1.082PRKAR1A, PDE4D
cellular response to organic substance (GO:0071310) 2.782PRKAR1A, PDE4D
regulation of immune system process (GO:0002682) 2.52PRKAR1A, PDE4D
regulation of protein modification process (GO:0031399) 2.322PRKAR1A, PDE4D
positive regulation of biological process (GO:0048518) 1.22PRKAR1A, PDE4D
negative regulation of biological process (GO:0048519) 1.332PRKAR1A, PDE4D
regulation of molecular function (GO:0065009) 1.782PRKAR1A, PDE4D
regulation of biological quality (GO:0065008) 1.682PRKAR1A, PDE4D
developmental process (GO:0032502) 1.362PRKAR1A, PDE4D
response to oxygen-containing compound (GO:1901700) 2.572PRKAR1A, PDE4D
multicellular organismal process (GO:0032501) 1.452PRKAR1A, PDE4D
negative regulation of phosphate metabolic process (GO:0045936) 3.452PRKAR1A, PDE4D
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432PRKAR1A, PDE4D
cellular process (GO:0009987) 0.262PRKAR1A, PDE4D
negative regulation of protein metabolic process (GO:0051248) 2.822PRKAR1A, PDE4D
regulation of cellular process (GO:0050794) 0.52PRKAR1A, PDE4D
single-organism developmental process (GO:0044767) 1.492PRKAR1A, PDE4D
regulation of cellular protein metabolic process (GO:0032268) 1.992PRKAR1A, PDE4D
single-organism cellular process (GO:0044763) 0.652PRKAR1A, PDE4D
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PRKAR1A, PDE4D
metabolic process (GO:0008152) 0.582PRKAR1A, PDE4D
response to chemical (GO:0042221) 1.982PRKAR1A, PDE4D
response to organic substance (GO:0010033) 2.22PRKAR1A, PDE4D
system process (GO:0003008) 2.32PRKAR1A, PDE4D
regulation of phosphorylation (GO:0042325) 2.52PRKAR1A, PDE4D
cellular response to oxygen-containing compound (GO:1901701) 3.222PRKAR1A, PDE4D
negative regulation of cellular protein metabolic process (GO:0032269) 2.882PRKAR1A, PDE4D
negative regulation of phosphorylation (GO:0042326) 3.72PRKAR1A, PDE4D
single-multicellular organism process (GO:0044707) 1.782PRKAR1A, PDE4D
negative regulation of protein modification process (GO:0031400) 3.42PRKAR1A, PDE4D
response to stimulus (GO:0050896) 1.222PRKAR1A, PDE4D
anatomical structure development (GO:0048856) 1.582PRKAR1A, PDE4D
cellular metabolic process (GO:0044237) 0.692PRKAR1A, PDE4D
phosphate-containing compound metabolic process (GO:0006796) 2.162PRKAR1A, PDE4D
phosphorus metabolic process (GO:0006793) 2.152PRKAR1A, PDE4D
negative regulation of protein phosphorylation (GO:0001933) 3.792PRKAR1A, PDE4D
regulation of protein phosphorylation (GO:0001932) 2.572PRKAR1A, PDE4D
response to organonitrogen compound (GO:0010243) 3.22PRKAR1A, PDE4D
negative regulation of cellular process (GO:0048523) 1.412PRKAR1A, PDE4D

NET-GE enrichment

Term New enriched termICP valueGenes
positive regulation of ion transmembrane transporter activity (GO:0032414) NEW5.550.033PRKAR1A, PDE4D
cyclic nucleotide metabolic process (GO:0009187) NEW5.670.044PRKAR1A, PDE4D
positive regulation of transporter activity (GO:0032411) NEW5.440.046PRKAR1A, PDE4D
cellular response to cAMP (GO:0071320) NEW5.820.033PRKAR1A, PDE4D
cyclic-nucleotide-mediated signaling (GO:0019935) NEW5.880.018PRKAR1A, PDE4D
cAMP-mediated signaling (GO:0019933) NEW6.090.008PRKAR1A, PDE4D
positive regulation of interferon-gamma production (GO:0032729) NEW5.590.025PRKAR1A, PDE4D
positive regulation of cation channel activity (GO:2001259) NEW6.170.008PRKAR1A, PDE4D
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012PRKAR1A, PDE4D
plasma membrane region (GO:0098590) 2.972PRKAR1A, PDE4D
macromolecular complex (GO:0032991) 1.352PRKAR1A, PDE4D
cytosol (GO:0005829) 1.682PRKAR1A, PDE4D
membrane (GO:0016020) 0.682PRKAR1A, PDE4D
cell part (GO:0044464) 0.112PRKAR1A, PDE4D
membrane part (GO:0044425) 0.952PRKAR1A, PDE4D
cytoplasmic part (GO:0044444) 0.822PRKAR1A, PDE4D
plasma membrane (GO:0005886) 1.392PRKAR1A, PDE4D
intracellular part (GO:0044424) 0.282PRKAR1A, PDE4D
protein complex (GO:0043234) 1.512PRKAR1A, PDE4D
plasma membrane part (GO:0044459) 1.952PRKAR1A, PDE4D
organelle part (GO:0044422) 0.792PRKAR1A, PDE4D

NET-GE enrichment

Term New enriched termICP valueGenes
motile cilium (GO:0031514) NEW5.360.01PRKAR1A, PDE4D