Disease table of POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY OMIM ID: 221770

Gene-disease associations table

GeneAssociated with POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TYROBPClinVar, OMIMHGNC link19q13.121221770
TREM2ClinVar, OMIM, HUMSAVARHGNC link6p21.11221770

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
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
TYROBPTREM2Yesbinding15LCP2, PLCG1, VAV2, LCK, SEMA6D, PLXNA1, PIK3CA, PIK3R1, PIK3CB, SOS1, PLCG2, SYK, GRAP2, FYN, VAV3

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
TREM2TYROBPyes, complexTREM2 forms a receptor signaling complex with TYROBP and triggers activation of the immune responses in macrophages and dendritic cells. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Osteoclast differentiationhsa043805.642TYROBP, TREM2

NET-GE enrichment

Term New enriched termICP valueGenes
DevelopmentNEW4.580.01TYROBP, TREM2
Osteoclast differentiation (hsa04380) -5.640.002TYROBP, TREM2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Other semaphorin interactionsR-HSA-4167008.732TYROBP, TREM2
Innate Immune SystemR-HSA-1682493.172TYROBP, TREM2
Immune SystemR-HSA-1682562.372TYROBP, TREM2
DAP12 interactionsR-HSA-21721274.562TYROBP, TREM2
DAP12 signalingR-HSA-24244914.642TYROBP, TREM2
Semaphorin interactionsR-HSA-3737556.922TYROBP, TREM2
Axon guidanceR-HSA-4224753.932TYROBP, TREM2
Developmental BiologyR-HSA-12667383.482TYROBP, TREM2

NET-GE enrichment

Term New enriched termICP valueGenes
Semaphorin interactions (R-HSA-373755) -6.920.001TYROBP, TREM2
DAP12 interactions (R-HSA-2172127) -4.560.023TYROBP, TREM2
DAP12 signaling (R-HSA-2424491) -4.640.021TYROBP, TREM2
Other semaphorin interactions (R-HSA-416700) -8.730.0TYROBP, TREM2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182TYROBP, TREM2
protein binding (GO:0005515) 0.462TYROBP, TREM2

NET-GE enrichment

Term New enriched termICP valueGenes
scaffold protein binding (GO:0097110) NEW5.930.001TYROBP, TREM2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
defense response (GO:0006952) 2.782TYROBP, TREM2
regulation of immune response (GO:0050776) 2.982TYROBP, TREM2
response to stimulus (GO:0050896) 1.222TYROBP, TREM2
innate immune response (GO:0045087) 3.552TYROBP, TREM2
cellular process (GO:0009987) 0.262TYROBP, TREM2
regulation of response to stimulus (GO:0048583) 1.542TYROBP, TREM2
regulation of cellular process (GO:0050794) 0.52TYROBP, TREM2
immune system process (GO:0002376) 2.292TYROBP, TREM2
single-organism cellular process (GO:0044763) 0.652TYROBP, TREM2
response to stress (GO:0006950) 1.82TYROBP, TREM2
regulation of immune system process (GO:0002682) 2.52TYROBP, TREM2
immune response (GO:0006955) 2.862TYROBP, TREM2
biological regulation (GO:0065007) 0.392TYROBP, TREM2
regulation of biological process (GO:0050789) 0.452TYROBP, TREM2
single-organism process (GO:0044699) 0.482TYROBP, TREM2

NET-GE enrichment

Term New enriched termICP valueGenes
axon guidance (GO:0007411) NEW4.440.047TYROBP, TREM2
neuron projection guidance (GO:0097485) NEW4.430.047TYROBP, TREM2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
integral component of membrane (GO:0016021) 1.142TYROBP, TREM2
membrane (GO:0016020) 0.682TYROBP, TREM2
cell part (GO:0044464) 0.112TYROBP, TREM2
plasma membrane (GO:0005886) 1.392TYROBP, TREM2
membrane part (GO:0044425) 0.952TYROBP, TREM2
intrinsic component of membrane (GO:0031224) 1.132TYROBP, TREM2