Disease table of NAIL DISORDER, NONSYNDROMIC CONGENITAL OMIM ID: PS161050

Gene-disease associations table

GeneAssociated with NAIL DISORDER, NONSYNDROMIC CONGENITAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RSPO4ClinVar, OMIM, HUMSAVARHGNC link20p131PS161050
COL7A1ClinVar, OMIM, HUMSAVARHGNC link3p21.317604129, 132000, 226600, PS161050, 131750, 131705, 131850
FZD6ClinVar, OMIM, HUMSAVARHGNC link8q22.32PS161050, 236750
PLCD1ClinVar, OMIM, HUMSAVARHGNC link3p22.21PS161050

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
3p22PLCD1, COL7A1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
3p2PLCD1, COL7A1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
32PLCD1, COL7A1
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL7A1YES3SP1, NFKB1, RELA0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
RSPO4PLCD1No-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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Cancers: Specific typesNEW4.10.038COL7A1, PLCD1, FZD6
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
TCF dependent signaling in response to WNTR-HSA-2016815.362RSPO4, FZD6
regulation of FZD by ubiquitinationR-HSA-46412638.592RSPO4, FZD6
Signaling by WntR-HSA-1957214.792RSPO4, FZD6
Signal TransductionR-HSA-1625821.782RSPO4, FZD6

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of FZD by ubiquitination (R-HSA-4641263) -8.590.003RSPO4, FZD6
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184RSPO4, COL7A1, PLCD1, FZD6
protein binding (GO:0005515) 0.463COL7A1, PLCD1, FZD6
signal transducer activity (GO:0004871) 2.282PLCD1, FZD6
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364PLCD1, COL7A1, RSPO4, FZD6
anatomical structure development (GO:0048856) 1.584RSPO4, COL7A1, PLCD1, FZD6
regulation of cellular process (GO:0050794) 0.54RSPO4, COL7A1, PLCD1, FZD6
biological regulation (GO:0065007) 0.394RSPO4, COL7A1, PLCD1, FZD6
regulation of biological process (GO:0050789) 0.454PLCD1, COL7A1, RSPO4, FZD6
single-organism process (GO:0044699) 0.484RSPO4, COL7A1, PLCD1, FZD6
single-organism developmental process (GO:0044767) 1.493PLCD1, RSPO4, FZD6
cellular process (GO:0009987) 0.263COL7A1, PLCD1, FZD6
single-organism cellular process (GO:0044763) 0.653COL7A1, PLCD1, FZD6
signal transduction (GO:0007165) 1.283PLCD1, RSPO4, FZD6
regulation of primary metabolic process (GO:0080090) 1.082COL7A1, FZD6
regulation of metabolic process (GO:0019222) 1.022COL7A1, FZD6
regulation of cellular metabolic process (GO:0031323) 1.072COL7A1, FZD6
regulation of Wnt signaling pathway (GO:0030111) 3.982RSPO4, FZD6
cell surface receptor signaling pathway (GO:0007166) 2.092RSPO4, FZD6
regulation of signaling (GO:0023051) 1.722RSPO4, FZD6
regulation of cell communication (GO:0010646) 1.732RSPO4, FZD6
cell surface receptor signaling pathway involved in cell-cell signaling (GO:1905114) 3.792RSPO4, FZD6
single-organism catabolic process (GO:0044712) 3.212COL7A1, PLCD1
single-organism metabolic process (GO:0044710) 1.632COL7A1, PLCD1
regulation of signal transduction (GO:0009966) 1.842RSPO4, FZD6
organic substance metabolic process (GO:0071704) 0.632COL7A1, PLCD1
negative regulation of molecular function (GO:0044092) 2.742COL7A1, FZD6
negative regulation of biological process (GO:0048519) 1.332COL7A1, FZD6
regulation of molecular function (GO:0065009) 1.782COL7A1, FZD6
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012PLCD1, FZD6
multicellular organismal process (GO:0032501) 1.452COL7A1, FZD6
regulation of macromolecule metabolic process (GO:0060255) 1.082COL7A1, FZD6
regulation of response to stimulus (GO:0048583) 1.542RSPO4, FZD6
metabolic process (GO:0008152) 0.582COL7A1, PLCD1
catabolic process (GO:0009056) 2.382COL7A1, PLCD1
single-multicellular organism process (GO:0044707) 1.782COL7A1, FZD6
Wnt signaling pathway (GO:0016055) 3.882RSPO4, FZD6
negative regulation of cellular process (GO:0048523) 1.412COL7A1, FZD6

NET-GE enrichment

Term New enriched termICP valueGenes
epidermis development (GO:0008544) NEW5.040.037COL7A1, FZD6
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
vesicle (GO:0031982) 1.643COL7A1, PLCD1, FZD6
membrane (GO:0016020) 0.683COL7A1, PLCD1, FZD6
cell part (GO:0044464) 0.113COL7A1, PLCD1, FZD6
cytoplasmic part (GO:0044444) 0.823COL7A1, PLCD1, FZD6
intracellular part (GO:0044424) 0.283COL7A1, PLCD1, FZD6
membrane-bounded organelle (GO:0043227) 0.473COL7A1, PLCD1, FZD6
organelle (GO:0043226) 0.43COL7A1, PLCD1, FZD6
organelle membrane (GO:0031090) 1.972COL7A1, FZD6
cytoplasmic vesicle (GO:0031410) 2.872COL7A1, FZD6
membrane-bounded vesicle (GO:0031988) 1.712COL7A1, PLCD1
intracellular organelle part (GO:0044446) 0.812COL7A1, FZD6
extracellular region (GO:0005576) 2.182COL7A1, RSPO4
intracellular vesicle (GO:0097708) 2.862COL7A1, FZD6
plasma membrane (GO:0005886) 1.392PLCD1, FZD6
extracellular region part (GO:0044421) 1.572COL7A1, PLCD1
organelle part (GO:0044422) 0.792COL7A1, FZD6

NET-GE enrichment

Term New enriched termICP valueGenes
collagen trimer (GO:0005581) NEW5.210.021COL7A1, FZD6