Disease table of CHARCOT-MARIE-TOOTH DISEASE OMIM ID: PS118220
Gene-disease associations table
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Gene Associated with CHARCOT-MARIE-TOOTH DISEASE in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases AARS ClinVar, OMIM, HUMSAVAR HGNC link 16q22.1 2 PS118220 , PS308350 AIFM1 ClinVar, OMIM, HUMSAVAR HGNC link Xq26.1 4 PS609060 , PS304500 , PS609129 , PS118220 COX6A1 OMIM HGNC link 12q24.31 1 PS118220 DHTKD1 ClinVar, OMIM HGNC link 10p14 2 PS118220 , 204750 DNM2 ClinVar, OMIM, HUMSAVAR HGNC link 19p13.2 4 PS118220 , PS253310 , PS160150 , 310400 DYNC1H1 ClinVar, OMIM, HUMSAVAR HGNC link 14q32.31 3 PS118220 , PS158600 , PS156200 EGR2 ClinVar, OMIM, HUMSAVAR HGNC link 10q21.3 1 PS118220 FGD4 ClinVar, OMIM, HUMSAVAR HGNC link 12p11.21 1 PS118220 FIG4 ClinVar, OMIM, HUMSAVAR HGNC link 6q21 4 PS118220 , PS105400 , 216340 , 612691 GARS ClinVar, OMIM, HUMSAVAR HGNC link 7p14.3 2 PS118220 , 600794
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Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
By band
By region
By arm
By chromosome
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from BIOGRID - genetic
Interactions from STRING
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CORUM
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CENSUS
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
REACTOME pathways annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - molecular function annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - biological process annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - cellular component annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment