Disease table of PEELING SKIN SYNDROME OMIM ID: PS270300
Gene-disease associations table
| Gene | Associated with PEELING SKIN SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|
| CHST8 | ClinVar, OMIM, HUMSAVAR | HGNC link | 19q13.11 | 1 | PS270300 |
| TGM5 | ClinVar, OMIM, HUMSAVAR | HGNC link | 15q15.2 | 1 | PS270300 |
| CDSN | ClinVar, OMIM | HGNC link | 6p21.33 | 2 | PS605389, PS270300 |
Download the disease annotation in CSV format
Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
| Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
|---|
| TGM5 | CDSN | No | 1 | CCDC51 |
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
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 (no NET-GE enrichment)
Shared terms
GO - biological process annotation: shared terms / NET-GE enrichment
Shared terms
| GO | IC | Number of genes with the same GO | Genes |
|---|
| developmental process (GO:0032502) | 1.36 | 3 | CHST8, CDSN, TGM5 |
| cellular process (GO:0009987) | 0.26 | 3 | CHST8, CDSN, TGM5 |
| anatomical structure development (GO:0048856) | 1.58 | 3 | CHST8, CDSN, TGM5 |
| primary metabolic process (GO:0044238) | 0.69 | 2 | CHST8, TGM5 |
| cellular macromolecule metabolic process (GO:0044260) | 0.93 | 2 | CHST8, TGM5 |
| tissue development (GO:0009888) | 3.27 | 2 | CDSN, TGM5 |
| cellular metabolic process (GO:0044237) | 0.69 | 2 | CHST8, TGM5 |
| macromolecule metabolic process (GO:0043170) | 0.83 | 2 | CHST8, TGM5 |
| organic substance metabolic process (GO:0071704) | 0.63 | 2 | CHST8, TGM5 |
| metabolic process (GO:0008152) | 0.58 | 2 | CHST8, TGM5 |
| epidermis development (GO:0008544) | 5.04 | 2 | CDSN, TGM5 |
| single-organism process (GO:0044699) | 0.48 | 2 | CHST8, CDSN |
NET-GE enrichment
GO - cellular component annotation: shared terms (no NET-GE enrichment)
Shared terms