Coffin-Siris syndrome
Information
- Disease name
- Coffin-Siris syndrome
- Disease ID
- DOID:1925
- Description
- "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails." [url:http\://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome, url:http\://ghr.nlm.nih.gov/condition/coffin-siris-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ARID1B | 6 | 156,777,378 | 157,210,779 | 86 |
| SOX11 | 2 | 5,692,384 | 5,701,385 | 20 |
| LINC01810 | 2 | 5,811,025 | 5,812,670 | 14 |
| LINC00487 | 2 | 6,729,168 | 6,770,311 | 12 |
| MIR7515HG | 2 | 6,617,202 | 6,650,539 | 12 |
| LINC01824 | 2 | 6,495,651 | 6,503,921 | 12 |
| PIK3CDP1 | 2 | 6,495,877 | 6,496,798 | 12 |
| LINC01247 | 2 | 6,366,010 | 6,375,422 | 12 |
| RSAD2 | 2 | 6,865,557 | 6,898,221 | 10 |
| CMPK2 | 2 | 6,848,316 | 6,865,907 | 10 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060307
- Cross Reference ID (Disease Ontology)
- GARD:6124
- Cross Reference ID (Disease Ontology)
- MESH:C536436
- Cross Reference ID (Disease Ontology)
- MIM:PS135900
- Cross Reference ID (Disease Ontology)
- NCI:C35321
- Cross Reference ID (Disease Ontology)
- ORDO:1465
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:10007009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265338
- Exact Synonym (Disease Ontology)
- Dwarfism-Onychodysplasia
- Exact Synonym (Disease Ontology)
- Fifth Digit Syndrome
- Exact Synonym (Disease Ontology)
- Short Stature-Onychodysplasia.
- OMIM Phenotype Series Number (OMIM)
- PS135900
- OrphaNumber from OrphaNet (Orphanet)
- 1465