Disease: Leukemia, Myelocytic, Acute ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918453
rs121918453
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121918454
rs121918454
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121918454
rs121918454
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE We identified TET2 and PTPN11 mutations in both mouse and human AML and then demonstrated the ability of Tet2 loss and PTPN11 D61Y to initiate leukemogenesis in concert with expression of AML1-ETO in vivo. 26666262 2016
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE Moreover, tissue-specific knock-in of Ptpn11(E76K/+) mutation in lineage-committed myeloid, T lymphoid, and B lymphoid progenitors also results in AML, T-ALL, and B-ALL, respectively. 21930766 2011