Disease table of ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA OMIM ID: 180800

Gene-disease associations table

GeneAssociated with ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PMP22OMIMHGNC link17p124139393, PS118220, 162500, 180800
MPZOMIM, HUMSAVARHGNC link1q23.32PS118220, 180800

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SOX10NO11COL11A2, GJB1, GJC2, NES, PMP22, EDNRB, MBP, MIA, MITF, MPZ, RET2PMP22, MPZ
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PMP22YES3CNOT8, CNOT7, SOX100
MPZYES2SOX10, EGR20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PMP22MPZYes0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
MPZPMP22yes, they interactThe PMP22 protein is characterized by four transmembrane domains, two extracellular loops (ECL1 and ECL2), and one intracellular loop. ECL1 has been suggested to mediate a homophilic interaction between two PMP22 proteins, whereas ECL2 has been shown to mediate a heterophilic interaction between PMP22 protein and myelin protein zero (MPZ).
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Cell adhesion molecules (CAMs) (hsa04514) NEW5.360.006PMP22, MPZ
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment (no shared terms)
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single organism signaling (GO:0044700) 3.252PMP22, MPZ
cellular process (GO:0009987) 0.262PMP22, MPZ
single-organism cellular process (GO:0044763) 0.652PMP22, MPZ
regulation of cellular process (GO:0050794) 0.52PMP22, MPZ
synaptic signaling (GO:0099536) 3.982PMP22, MPZ
cell communication (GO:0007154) 3.042PMP22, MPZ
anterograde trans-synaptic signaling (GO:0098916) 3.982PMP22, MPZ
biological regulation (GO:0065007) 0.392PMP22, MPZ
negative regulation of cellular process (GO:0048523) 1.412PMP22, MPZ
signaling (GO:0023052) 3.252PMP22, MPZ
chemical synaptic transmission (GO:0007268) 3.982PMP22, MPZ
cell-cell signaling (GO:0007267) 3.352PMP22, MPZ
negative regulation of biological process (GO:0048519) 1.332PMP22, MPZ
regulation of biological process (GO:0050789) 0.452PMP22, MPZ
single-organism process (GO:0044699) 0.482PMP22, MPZ
trans-synaptic signaling (GO:0099537) 3.982PMP22, MPZ

NET-GE enrichment

Term New enriched termICP valueGenes
single organism signaling (GO:0044700) -3.250.035PMP22, MPZ
peripheral nervous system development (GO:0007422) NEW6.470.001PMP22, MPZ
signaling (GO:0023052) -3.250.035PMP22, MPZ
synaptic transmission (GO:0007268) -3.980.012PMP22, MPZ
cell-cell signaling (GO:0007267) -3.350.032PMP22, MPZ
cell communication (GO:0007154) -3.040.048PMP22, MPZ
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) 1.142PMP22, MPZ
membrane (GO:0016020) 0.682PMP22, MPZ
cell part (GO:0044464) 0.112PMP22, MPZ
plasma membrane (GO:0005886) 1.392PMP22, MPZ
membrane part (GO:0044425) 0.952PMP22, MPZ
intrinsic component of membrane (GO:0031224) 1.132PMP22, MPZ