Gene-disease associations table
| Gene | Associated with MONILETHRIX in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|
| KRT81 | ClinVar, OMIM, HUMSAVAR | HGNC link | 12q13.13 | 1 | 158000 |
| KRT83 | ClinVar, OMIM, HUMSAVAR | HGNC link | 12q13.13 | 1 | 158000 |
| KRT86 | ClinVar, OMIM, HUMSAVAR | HGNC link | 12q13.13 | 1 | 158000 |
Download the disease annotation in CSV format
Relations among genes:
Tandem repeat annotations from DGD
| Common tandem group | Number of genes in this tandem group associated to this disease | Genes in this tandem group associated to this disease |
|---|
| Group 573 | 3 | KRT86, KRT81, KRT83 |
Cytogenetic band analysis
By sub-band
| Shared sub_band | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 12q13.13 | 3 | KRT86, KRT81, KRT83 |
By band
| Shared band | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 12q13 | 3 | KRT86, KRT81, KRT83 |
By region
| Shared region | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 12q1 | 3 | KRT86, KRT81, KRT83 |
By arm
| Shared arm | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 12q | 3 | KRT86, KRT81, KRT83 |
By chromosome
| Shared chromosome | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 12 | 3 | KRT86, KRT81, KRT83 |
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
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
NET-GE enrichment
GO - biological process annotation: shared terms / NET-GE enrichment (no shared terms)
GO - cellular component annotation: shared terms / NET-GE enrichment
Shared terms
| GO | IC | Number of genes with the same GO | Genes |
|---|
| supramolecular fiber (GO:0099512) | 3.31 | 3 | KRT83, KRT86, KRT81 |
| polymeric cytoskeletal fiber (GO:0099513) | 3.31 | 3 | KRT83, KRT86, KRT81 |
| keratin filament (GO:0045095) | 5.21 | 3 | KRT83, KRT86, KRT81 |
| cell part (GO:0044464) | 0.11 | 3 | KRT83, KRT86, KRT81 |
| intracellular organelle part (GO:0044446) | 0.81 | 3 | KRT83, KRT86, KRT81 |
| cytoskeletal part (GO:0044430) | 2.49 | 3 | KRT83, KRT86, KRT81 |
| organelle part (GO:0044422) | 0.79 | 3 | KRT83, KRT86, KRT81 |
| intracellular part (GO:0044424) | 0.28 | 3 | KRT83, KRT86, KRT81 |
| extracellular region part (GO:0044421) | 1.57 | 3 | KRT83, KRT86, KRT81 |
| intermediate filament (GO:0005882) | 4.48 | 3 | KRT83, KRT86, KRT81 |
| extracellular space (GO:0005615) | 2.63 | 3 | KRT83, KRT86, KRT81 |
NET-GE enrichment