Disease table of CORNEAL DYSTROPHY, MEESMANN OMIM ID: 122100

Gene-disease associations table

GeneAssociated with CORNEAL DYSTROPHY, MEESMANN inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KRT3ClinVar, OMIM, HUMSAVARHGNC link12q13.131122100
KRT12ClinVar, OMIM, HUMSAVARHGNC link17q21.21122100

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
KRT12YES2PAX6, KLF60
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KRT3KRT12No1CRK

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
KRT12KRT3yes, complexThey form a heterotetramer of two type I and two type II keratins, so keratin-3 associates with keratin-12. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
structural molecule activity (GO:0005198) 3.12KRT12, KRT3

NET-GE enrichment

Term New enriched termICP valueGenes
structural molecule activity (GO:0005198) -3.10.009KRT12, KRT3
GO - biological process annotation: shared terms / NET-GE enrichment (no shared terms)
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
supramolecular fiber (GO:0099512) 3.312KRT12, KRT3
polymeric cytoskeletal fiber (GO:0099513) 3.312KRT12, KRT3
cell part (GO:0044464) 0.112KRT12, KRT3
vesicle (GO:0031982) 1.642KRT12, KRT3
membrane-bounded vesicle (GO:0031988) 1.712KRT12, KRT3
intracellular organelle part (GO:0044446) 0.812KRT12, KRT3
intermediate filament (GO:0005882) 4.482KRT12, KRT3
cytoskeletal part (GO:0044430) 2.492KRT12, KRT3
organelle (GO:0043226) 0.42KRT12, KRT3
intracellular part (GO:0044424) 0.282KRT12, KRT3
extracellular organelle (GO:0043230) 1.892KRT12, KRT3
extracellular vesicle (GO:1903561) 1.892KRT12, KRT3
membrane-bounded organelle (GO:0043227) 0.472KRT12, KRT3
extracellular region part (GO:0044421) 1.572KRT12, KRT3
organelle part (GO:0044422) 0.792KRT12, KRT3
extracellular exosome (GO:0070062) 1.892KRT12, KRT3

NET-GE enrichment

Term New enriched termICP valueGenes
intermediate filament (GO:0005882) -4.480.002KRT12, KRT3