Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation ORPHANET Juvenile myelomonocytic leukemia (JMML) is an intractable pediatric leukemia with poor prognosis whose molecular pathogenesis is poorly understood, except for somatic or germline mutations of RAS pathway genes, including PTPN11, NF1, NRAS, KRAS and CBL, in the majority of cases. 23832011

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation ORPHANET Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias. 21930766

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation ORPHANET Molecular basis of juvenile myelomonocytic leukemia. 20139388

2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation ORPHANET Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318

2009