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Details of SMARCB1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SMARCB1 | BAF47 | INI1 | SNF5L1 | Q12824
| O75784
| O95474 | Q9UBH2 |
Disease |
|---|
| Disease |
OMIM id |
| Rhabdoid tumor predisposition syndrome 1 (RTPS1) [MIM:609322]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system |
medulloblastoma |
Schwannomatosis (SCHWA) [MIM:162091]: Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations |
601607 |
Mental retardation |
hypotonia |
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of the central nervous system, Abnormality of the nervous system, All, Autosomal dominant inheritance, Malignant neoplasm of the central nervous system, Medulloblastoma, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm of the central nervous system, Neoplasm of the nervous system, Phenotypic abnormality.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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