G2Cdb::Human Disease report
- Disease id
- D00000241
- Name
- Cherubism
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15996221) | Unknown (?) | Y |
References
-
Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.
Funded by: NCRR NIH HHS: M01RR06192; NIAMS NIH HHS: AR49539
Clinical genetics 2005;68;2;190-1
PUBMED: 15996221; DOI: 10.1111/j.1399-0004.2005.00475.x
Literature (1)
Pubmed - human_disease
-
Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.
Funded by: NCRR NIH HHS: M01RR06192; NIAMS NIH HHS: AR49539
Clinical genetics 2005;68;2;190-1
PUBMED: 15996221; DOI: 10.1111/j.1399-0004.2005.00475.x