eDGAR: 127300 disease page
Disease table of LERI-WEILL DYSCHONDROSTEOSIS OMIM ID: 127300
Gene-disease associations table
| Gene | Associated with LERI-WEILL DYSCHONDROSTEOSIS in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|
| SHOX | ClinVar, OMIM, HUMSAVAR | HGNC link | Xp22.33 | 3 | 127300, 300582, 249700 |
| SHOXY | ClinVar, OMIM | HGNC link | Y- | 3 | 127300, 300582, 249700 |
Download the disease annotation in CSV format
Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
| TF | associated to this disease | # regulated genes | Regulated genes | # regulated genes associated with this disease | Regulated genes associated with this disease |
|---|
| SHOX | YES | 2 | FGFR3, NPPB | 0 | |
Interactions from BIOGRID - physical
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 (no shared terms)
GO - biological process annotation: shared terms / NET-GE enrichment (no shared terms)
GO - cellular component annotation: shared terms / NET-GE enrichment (no shared terms)