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.

    Jafarov T, Ferimazova N and Reichenberger E

    Funded by: NCRR NIH HHS: M01RR06192; NIAMS NIH HHS: AR49539

    Clinical genetics 2005;68;2;190-1

Literature (1)

Pubmed - human_disease

  • Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

    Jafarov T, Ferimazova N and Reichenberger E

    Funded by: NCRR NIH HHS: M01RR06192; NIAMS NIH HHS: AR49539

    Clinical genetics 2005;68;2;190-1

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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