Disease table of PACHYONYCHIA CONGENITA OMIM ID: PS167200

Gene-disease associations table

GeneAssociated with PACHYONYCHIA CONGENITA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KRT17ClinVar, OMIM, HUMSAVARHGNC link17q21.22PS167200, 184500
KRT16ClinVar, OMIM, HUMSAVARHGNC link17q21.22PS167200, 613000
KRT6BClinVar, OMIM, HUMSAVARHGNC link12q13.131PS167200
KRT6AClinVar, OMIM, HUMSAVARHGNC link12q13.131PS167200

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 5732KRT6B, KRT6A
Group 7602KRT17, KRT16
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
17q21.22KRT17, KRT16
12q13.132KRT6B, KRT6A
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
12q132KRT6B, KRT6A
17q212KRT17, KRT16
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
17q22KRT17, KRT16
12q12KRT6B, KRT6A
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
12q2KRT6B, KRT6A
17q2KRT17, KRT16
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
122KRT6B, KRT6A
172KRT17, KRT16
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
KRT17YES3BRCA1, STAT3, STAT10
KRT16YES4SP1, NFE2L2, EP300, JUN0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KRT17KRT16No14EPS15, UBASH3B, HNRNPA1, NPHP1, CRK, CBL, PIK3R2, INPPL1, IQCB1, AP2M1, COPS5, SHC1, GRB2, INVS
KRT17KRT6BNo10KDM1A, UBASH3B, HNRNPA1, CRK, CBL, INPPL1, IQCB1, AP2M1, COPS5, INVS
KRT17KRT6AYes14KDM1A, UBASH3B, HNRNPA1, NPHP1, CRK, CBL, EPS15, IQCB1, AP2M1, CCDC85B, COPS5, SHC1, GRB2, INVS
KRT16KRT6BNo16UBASH3B, EIF4A3, CEP290, HNRNPA1, CRK, CBL, ALB, CAND1, INPPL1, IQCB1, CUL3, AP2M1, EWSR1, COPS5, CUL1, INVS
KRT16KRT6ANo19EPS15, UBASH3B, CEP290, HNRNPA1, NPHP1, CRK, CBL, CCDC8, CUL1, ALB, IQCB1, INVS, AP2M1, CUL2, RPS6KB2, COPS5, SHC1, GRB2, ITGA4
KRT6BKRT6ANo22HNRNPA1, KRT38, CUL1, ALB, TFIP11, KDM1A, CRK, KRT13, COPS5, IQCB1, INVS, UBASH3B, GOLGA2, CEP290, TRIM54, AP2M1, CUL5, CBL, KRT15, PAPD5, KIFC3, KRT31

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
KRT17KRT16No-1UBC
KRT17KRT6BNo-1UBC
KRT17KRT6ANo-1UBC
KRT16KRT6BNo-1UBC
KRT16KRT6ANo-2UBC, TCHP
KRT6BKRT6ANo-1UBC

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 / 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 constituent of cytoskeleton (GO:0005200) 5.124KRT16, KRT17, KRT6A, KRT6B
binding (GO:0005488) 0.184KRT16, KRT17, KRT6A, KRT6B
protein binding (GO:0005515) 0.464KRT16, KRT17, KRT6A, KRT6B
structural molecule activity (GO:0005198) 3.14KRT16, KRT17, KRT6A, KRT6B

NET-GE enrichment

Term New enriched termICP valueGenes
structural constituent of cytoskeleton (GO:0005200) -5.120.0KRT16, KRT17, KRT6A, KRT6B
structural molecule activity (GO:0005198) -3.10.0KRT16, KRT17, KRT6A, KRT6B
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364KRT16, KRT17, KRT6A, KRT6B
organelle organization (GO:0006996) 2.023KRT16, KRT17, KRT6A
morphogenesis of an epithelium (GO:0002009) 4.083KRT16, KRT17, KRT6A
anatomical structure development (GO:0048856) 1.583KRT16, KRT17, KRT6B
cellular process (GO:0009987) 0.263KRT16, KRT17, KRT6A
tissue development (GO:0009888) 3.273KRT16, KRT17, KRT6B
cellular component organization (GO:0016043) 1.243KRT16, KRT17, KRT6A
regulation of cellular process (GO:0050794) 0.53KRT16, KRT17, KRT6A
single-organism developmental process (GO:0044767) 1.493KRT16, KRT17, KRT6A
single-organism organelle organization (GO:1902589) 2.683KRT16, KRT17, KRT6A
biological regulation (GO:0065007) 0.393KRT16, KRT17, KRT6A
single-organism process (GO:0044699) 0.483KRT16, KRT17, KRT6A
tissue morphogenesis (GO:0048729) 3.873KRT16, KRT17, KRT6A
single-organism cellular process (GO:0044763) 0.653KRT16, KRT17, KRT6A
anatomical structure morphogenesis (GO:0009653) 2.533KRT16, KRT17, KRT6A
regulation of biological process (GO:0050789) 0.453KRT16, KRT17, KRT6A
cellular component organization or biogenesis (GO:0071840) 1.223KRT16, KRT17, KRT6A
multicellular organismal process (GO:0032501) 1.452KRT16, KRT17
cytoskeleton organization (GO:0007010) 3.222KRT16, KRT17
single-multicellular organism process (GO:0044707) 1.782KRT16, KRT17
intermediate filament cytoskeleton organization (GO:0045104) 6.042KRT16, KRT17
cellular developmental process (GO:0048869) 1.822KRT16, KRT6A
response to stimulus (GO:0050896) 1.222KRT16, KRT6A
cell differentiation (GO:0030154) 2.142KRT16, KRT6A
intermediate filament-based process (GO:0045103) 6.022KRT16, KRT17
keratinization (GO:0031424) 5.862KRT16, KRT17
response to stress (GO:0006950) 1.82KRT16, KRT6A
positive regulation of biological process (GO:0048518) 1.22KRT17, KRT6A
epidermis development (GO:0008544) 5.042KRT16, KRT17
positive regulation of cellular process (GO:0048522) 1.32KRT17, KRT6A

NET-GE enrichment

Term New enriched termICP valueGenes
intermediate filament cytoskeleton organization (GO:0045104) -6.040.002KRT16, KRT17
epidermis development (GO:0008544) -5.040.023KRT16, KRT17
tissue development (GO:0009888) -3.270.014KRT16, KRT17, KRT6B
intermediate filament-based process (GO:0045103) -6.020.004KRT16, KRT17
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
supramolecular fiber (GO:0099512) 3.314KRT16, KRT17, KRT6A, KRT6B
vesicle (GO:0031982) 1.644KRT16, KRT17, KRT6A, KRT6B
extracellular region part (GO:0044421) 1.574KRT16, KRT17, KRT6A, KRT6B
extracellular exosome (GO:0070062) 1.894KRT16, KRT17, KRT6A, KRT6B
cell part (GO:0044464) 0.114KRT16, KRT17, KRT6A, KRT6B
membrane-bounded vesicle (GO:0031988) 1.714KRT16, KRT17, KRT6A, KRT6B
intracellular organelle part (GO:0044446) 0.814KRT16, KRT17, KRT6A, KRT6B
cytoskeletal part (GO:0044430) 2.494KRT16, KRT17, KRT6A, KRT6B
organelle part (GO:0044422) 0.794KRT16, KRT17, KRT6A, KRT6B
intracellular part (GO:0044424) 0.284KRT16, KRT17, KRT6A, KRT6B
extracellular organelle (GO:0043230) 1.894KRT16, KRT17, KRT6A, KRT6B
extracellular vesicle (GO:1903561) 1.894KRT16, KRT17, KRT6A, KRT6B
membrane-bounded organelle (GO:0043227) 0.474KRT16, KRT17, KRT6A, KRT6B
organelle (GO:0043226) 0.44KRT16, KRT17, KRT6A, KRT6B
intermediate filament (GO:0005882) 4.484KRT16, KRT17, KRT6A, KRT6B
polymeric cytoskeletal fiber (GO:0099513) 3.314KRT16, KRT17, KRT6A, KRT6B
intracellular organelle (GO:0043229) 0.512KRT16, KRT6A
keratin filament (GO:0045095) 5.212KRT6B, KRT6A
nucleus (GO:0005634) 1.072KRT16, KRT6A
intracellular membrane-bounded organelle (GO:0043231) 0.62KRT16, KRT6A

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular organelle (GO:0043230) -1.890.011KRT16, KRT17, KRT6A, KRT6B
extracellular vesicular exosome (GO:0070062) -1.890.011KRT16, KRT17, KRT6A, KRT6B
keratin filament (GO:0045095) -5.210.005KRT6B, KRT6A
membrane-bounded vesicle (GO:0031988) -1.710.019KRT16, KRT17, KRT6A, KRT6B
cytoskeletal part (GO:0044430) -2.490.03KRT16, KRT17, KRT6A, KRT6B
extracellular membrane-bounded organelle (GO:0065010) NEW8.70.011KRT16, KRT17, KRT6A, KRT6B
extracellular region part (GO:0044421) -1.570.036KRT16, KRT17, KRT6A, KRT6B
intermediate filament (GO:0005882) -4.480.0KRT16, KRT17, KRT6A, KRT6B
vesicle (GO:0031982) -1.640.022KRT16, KRT17, KRT6A, KRT6B