Disease: Juvenile Myelomonocytic Leukemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		A 0.870 CausalMutation CLINVAR
dbSNP: rs121918453
rs121918453
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918454
rs121918454
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918465
rs121918465
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918465
rs121918465
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397507511
rs397507511
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs121918462
rs121918462
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		T 0.730 CausalMutation CLINVAR
dbSNP: rs121918455
rs121918455
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918459
rs121918459
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918466
rs121918466
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397507505
rs397507505
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397507506
rs397507506
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397507514
rs397507514
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397507531
rs397507531
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397507547
rs397507547
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918462
rs121918462
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.730 GeneticVariation BEFREE A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia. 15539800 2004
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.800 CausalMutation CLINVAR A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells. 20651068 2010
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.800 CausalMutation CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954 2010
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		T 0.810 CausalMutation CLINVAR Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 15604238 2004
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.870 GeneticVariation BEFREE Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN). 27840422 2017
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.810 GeneticVariation BEFREE Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN). 27840422 2017
dbSNP: rs397507545
rs397507545
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		C 0.800 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605 2012