G2Cdb::Human Disease report

Disease id
D00000117
Name
Myelodysplastic syndrome
Nervous system disease
no

Genes (2)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00000036 NF1
neurofibromin 1
Y (1568247) Microinsertion (MI) Y
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (12717436) Single nucleotide polymorphism (SNP) Y
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (12717436) Microinsertion (MI) Y
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (12717436) Trinucleotide substitution (TriNS) Y
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (15009076) Unknown (?) N
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (15282682) No mutation found (N) N
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (15725481) Unknown (?) ?
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (17339262) Deletion (D) Y
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (17339262) Translocation (T) Y

References

Literature (6)

Pubmed - human_disease

Pubmed - other

© 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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