Disease table of LYMPHOPROLIFERATIVE SYNDROME OMIM ID: PS308240

Gene-disease associations table

GeneAssociated with LYMPHOPROLIFERATIVE SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
XIAPClinVar, OMIMHGNC linkXq251PS308240
SH2D1AClinVar, OMIM, HUMSAVARHGNC linkXq251PS308240
CD27ClinVar, OMIM, HUMSAVARHGNC link12p13.311PS308240
ITKClinVar, OMIM, HUMSAVARHGNC link5q33.31PS308240

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
Xq252SH2D1A, XIAP
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
Xq252SH2D1A, XIAP
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
Xq22SH2D1A, XIAP
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
Xq2SH2D1A, XIAP
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
X2SH2D1A, XIAP
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
XIAPYES5SP1, SSB, AR, NFKB1, RELA0
SH2D1AYES1ATF50
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
XIAPSH2D1ANo1ELAVL1
XIAPCD27No4SIVA1, BIRC2, ELAVL1, TRAF2
SH2D1ACD27No1ELAVL1
SH2D1AITKNo4FYN, ERBB3, DOK1, EGFR

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
XIAPCD27No-2NOTCH1, TRAF2

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 (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Immune SystemR-HSA-1682562.373ITK, CD27, SH2D1A
Adaptive Immune SystemR-HSA-12802183.192ITK, SH2D1A
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184ITK, XIAP, CD27, SH2D1A
protein binding (GO:0005515) 0.464ITK, XIAP, CD27, SH2D1A
cation binding (GO:0043169) 1.42ITK, XIAP
metal ion binding (GO:0046872) 1.412ITK, XIAP
peptidase inhibitor activity (GO:0030414) 4.552XIAP, CD27
catalytic activity (GO:0003824) 1.052ITK, XIAP
enzyme regulator activity (GO:0030234) 2.852XIAP, CD27
peptidase regulator activity (GO:0061134) 4.372XIAP, CD27
ion binding (GO:0043167) 1.362ITK, XIAP
cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028) 6.022XIAP, CD27
transferase activity (GO:0016740) 1.952ITK, XIAP
endopeptidase inhibitor activity (GO:0004866) 4.62XIAP, CD27
cysteine-type endopeptidase inhibitor activity (GO:0004869) 5.712XIAP, CD27
enzyme inhibitor activity (GO:0004857) 3.782XIAP, CD27
molecular function regulator (GO:0098772) 2.512XIAP, CD27
endopeptidase regulator activity (GO:0061135) 4.572XIAP, CD27
cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027) 6.62XIAP, CD27

NET-GE enrichment

Term New enriched termICP valueGenes
peptidase inhibitor activity (GO:0030414) -4.550.033XIAP, CD27
endopeptidase regulator activity (GO:0061135) -4.570.032XIAP, CD27
peptidase regulator activity (GO:0061134) -4.370.046XIAP, CD27
cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028) -6.020.021XIAP, CD27
endopeptidase inhibitor activity (GO:0004866) -4.60.03XIAP, CD27
cysteine-type endopeptidase inhibitor activity (GO:0004869) -5.710.033XIAP, CD27
cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027) -6.60.005XIAP, CD27
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.264ITK, XIAP, CD27, SH2D1A
response to stimulus (GO:0050896) 1.224ITK, XIAP, CD27, SH2D1A
positive regulation of response to stimulus (GO:0048584) 2.184ITK, XIAP, CD27, SH2D1A
regulation of response to stimulus (GO:0048583) 1.544ITK, XIAP, CD27, SH2D1A
regulation of cellular process (GO:0050794) 0.54ITK, XIAP, CD27, SH2D1A
response to stress (GO:0006950) 1.84ITK, XIAP, CD27, SH2D1A
biological regulation (GO:0065007) 0.394ITK, XIAP, CD27, SH2D1A
single-organism cellular process (GO:0044763) 0.654ITK, XIAP, CD27, SH2D1A
positive regulation of biological process (GO:0048518) 1.24ITK, XIAP, CD27, SH2D1A
regulation of immune system process (GO:0002682) 2.54ITK, XIAP, CD27, SH2D1A
regulation of biological process (GO:0050789) 0.454ITK, XIAP, CD27, SH2D1A
single-organism process (GO:0044699) 0.484ITK, XIAP, CD27, SH2D1A
regulation of hydrolase activity (GO:0051336) 2.533ITK, XIAP, CD27
regulation of cell proliferation (GO:0042127) 2.413ITK, XIAP, CD27
regulation of signaling (GO:0023051) 1.723XIAP, CD27, SH2D1A
regulation of immune response (GO:0050776) 2.983ITK, XIAP, SH2D1A
adaptive immune response (GO:0002250) 4.433ITK, CD27, SH2D1A
regulation of signal transduction (GO:0009966) 1.843XIAP, CD27, SH2D1A
positive regulation of signal transduction (GO:0009967) 2.53XIAP, CD27, SH2D1A
regulation of response to stress (GO:0080134) 2.533XIAP, CD27, SH2D1A
regulation of catalytic activity (GO:0050790) 1.973ITK, XIAP, CD27
defense response (GO:0006952) 2.783ITK, CD27, SH2D1A
immune system process (GO:0002376) 2.293ITK, CD27, SH2D1A
positive regulation of immune system process (GO:0002684) 2.963ITK, CD27, SH2D1A
signal transduction (GO:0007165) 1.283ITK, XIAP, CD27
cell surface receptor signaling pathway (GO:0007166) 2.093ITK, XIAP, CD27
immune response (GO:0006955) 2.863ITK, CD27, SH2D1A
regulation of molecular function (GO:0065009) 1.783ITK, XIAP, CD27
regulation of cell communication (GO:0010646) 1.733XIAP, CD27, SH2D1A
positive regulation of cell communication (GO:0010647) 2.413XIAP, CD27, SH2D1A
positive regulation of signaling (GO:0023056) 2.413XIAP, CD27, SH2D1A
positive regulation of cellular process (GO:0048522) 1.33XIAP, CD27, SH2D1A
cellular defense response (GO:0006968) 5.652ITK, SH2D1A
negative regulation of metabolic process (GO:0009892) 1.932XIAP, CD27
positive regulation of metabolic process (GO:0009893) 1.742XIAP, CD27
regulation of metabolic process (GO:0019222) 1.022XIAP, CD27
positive regulation of cellular metabolic process (GO:0031325) 1.812XIAP, CD27
negative regulation of cellular metabolic process (GO:0031324) 2.012XIAP, CD27
regulation of cellular metabolic process (GO:0031323) 1.072XIAP, CD27
cell death (GO:0008219) 3.052XIAP, CD27
regulation of cell death (GO:0010941) 2.432XIAP, CD27
regulation of apoptotic process (GO:0042981) 2.52XIAP, CD27
negative regulation of catalytic activity (GO:0043086) 3.02XIAP, CD27
regulation of defense response (GO:0031347) 3.112XIAP, SH2D1A
regulation of primary metabolic process (GO:0080090) 1.082XIAP, CD27
cellular protein metabolic process (GO:0044267) 1.632ITK, XIAP
negative regulation of protein metabolic process (GO:0051248) 2.822XIAP, CD27
negative regulation of macromolecule metabolic process (GO:0010605) 2.012XIAP, CD27
negative regulation of hydrolase activity (GO:0051346) 3.742XIAP, CD27
cellular macromolecule metabolic process (GO:0044260) 0.932ITK, XIAP
regulation of cysteine-type endopeptidase activity (GO:2000116) 4.372XIAP, CD27
negative regulation of cysteine-type endopeptidase activity (GO:2000117) 5.252XIAP, CD27
regulation of protein metabolic process (GO:0051246) 1.932XIAP, CD27
positive regulation of protein metabolic process (GO:0051247) 2.432XIAP, CD27
organic substance metabolic process (GO:0071704) 0.632ITK, XIAP
regulation of programmed cell death (GO:0043067) 2.492XIAP, CD27
negative regulation of apoptotic process (GO:0043066) 3.042XIAP, CD27
positive regulation of cellular protein metabolic process (GO:0032270) 2.492XIAP, CD27
negative regulation of molecular function (GO:0044092) 2.742XIAP, CD27
regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281) 4.432XIAP, CD27
negative regulation of biological process (GO:0048519) 1.332XIAP, CD27
regulation of biological quality (GO:0065008) 1.682XIAP, CD27
negative regulation of programmed cell death (GO:0043069) 3.022XIAP, CD27
apoptotic process (GO:0006915) 3.142XIAP, CD27
regulation of innate immune response (GO:0045088) 3.862XIAP, SH2D1A
regulation of peptidase activity (GO:0052547) 3.752XIAP, CD27
regulation of endopeptidase activity (GO:0052548) 3.82XIAP, CD27
negative regulation of cell death (GO:0060548) 2.952XIAP, CD27
innate immune response (GO:0045087) 3.552ITK, SH2D1A
regulation of protein modification process (GO:0031399) 2.322XIAP, CD27
cellular protein modification process (GO:0006464) 1.792ITK, XIAP
programmed cell death (GO:0012501) 3.12XIAP, CD27
macromolecule modification (GO:0043412) 1.732ITK, XIAP
protein modification process (GO:0036211) 1.792ITK, XIAP
regulation of macromolecule metabolic process (GO:0060255) 1.082XIAP, CD27
metabolic process (GO:0008152) 0.582ITK, XIAP
negative regulation of endopeptidase activity (GO:0010951) 4.262XIAP, CD27
regulation of intracellular signal transduction (GO:1902531) 2.312XIAP, CD27
positive regulation of macromolecule metabolic process (GO:0010604) 1.812XIAP, CD27
primary metabolic process (GO:0044238) 0.692ITK, XIAP
negative regulation of cellular protein metabolic process (GO:0032269) 2.882XIAP, CD27
regulation of cellular protein metabolic process (GO:0032268) 1.992XIAP, CD27
protein metabolic process (GO:0019538) 1.452ITK, XIAP
positive regulation of protein modification process (GO:0031401) 2.72XIAP, CD27
positive regulation of immune response (GO:0050778) 3.42ITK, SH2D1A
cellular metabolic process (GO:0044237) 0.692ITK, XIAP
macromolecule metabolic process (GO:0043170) 0.832ITK, XIAP
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154) 5.292XIAP, CD27
regulation of proteolysis (GO:0030162) 3.22XIAP, CD27
negative regulation of proteolysis (GO:0045861) 3.982XIAP, CD27
negative regulation of peptidase activity (GO:0010466) 4.222XIAP, CD27
negative regulation of cellular process (GO:0048523) 1.412XIAP, CD27

NET-GE enrichment

Term New enriched termICP valueGenes
cellular defense response (GO:0006968) -5.650.017ITK, SH2D1A
negative regulation of cysteine-type endopeptidase activity (GO:2000117) -5.250.025XIAP, CD27
positive regulation of response to stimulus (GO:0048584) -2.180.019ITK, XIAP, CD27, SH2D1A
positive regulation of immune response (GO:0050778) -3.40.02ITK, XIAP, CD27, SH2D1A
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154) -5.290.024XIAP, CD27
regulation of immune system process (GO:0002682) -2.50.008ITK, XIAP, CD27, SH2D1A
adaptive immune response (GO:0002250) -4.430.044ITK, CD27
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.284ITK, XIAP, CD27, SH2D1A
cell part (GO:0044464) 0.114ITK, XIAP, CD27, SH2D1A
cytoplasm (GO:0005737) 1.013ITK, XIAP, SH2D1A
cytosol (GO:0005829) 1.683ITK, XIAP, SH2D1A
cytoplasmic part (GO:0044444) 0.823ITK, XIAP, SH2D1A
intracellular membrane-bounded organelle (GO:0043231) 0.62XIAP, CD27
membrane-bounded organelle (GO:0043227) 0.472XIAP, CD27
nucleus (GO:0005634) 1.072XIAP, CD27
intracellular organelle (GO:0043229) 0.512XIAP, CD27
membrane part (GO:0044425) 0.952ITK, CD27
plasma membrane part (GO:0044459) 1.952ITK, CD27
organelle (GO:0043226) 0.42XIAP, CD27