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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Coffin-Siris syndrome
Summary
- Synonym
-
- Dwarfism-Onychodysplasia
- Fifth Digit Syndrome
- Short Stature-Onychodysplasia.
- Definition
- 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.
- Super Class
- autosomal dominant intellectual developmental disorder syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6599 | SMARCC1 | SWI/SNF related BAF chromatin remodeling complex subunit C1 | |
| 6601 | SMARCC2 | SWI/SNF related BAF chromatin remodeling complex subunit C2 | |
| 6602 | SMARCD1 | SWI/SNF related BAF chromatin remodeling complex subunit D1 | |
| 6603 | SMARCD2 | SWI/SNF related BAF chromatin remodeling complex subunit D2 | |
| 8289 | ARID1A | AT-rich interaction domain 1A | |
| 23506 | BICRAL | BICRA like chromatin remodeling complex associated protein |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 20588 | Smarcc1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 | |
| 68094 | Smarcc2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | |
| 72057 | Phf10 | PHD finger protein 10 | |
| 83796 | Smarcd2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 | |
| 83797 | Smarcd1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 | |
| 93760 | Arid1a | AT-rich interaction domain 1A | |
| 243842 | Bicra | BRD4 interacting chromatin remodeling complex associated protein |
