Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker MGD

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker MGD

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker HPO

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 CausalMutation CLINVAR

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker MGD

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker HPO

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation CLINVAR

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation CLINVAR

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.800 Biomarker HPO

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.800 Biomarker HPO

Entrez Id: 23092
Gene Symbol: ARHGAP26
ARHGAP26
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.600 CausalMutation CLINVAR

Entrez Id: 23092
Gene Symbol: ARHGAP26
ARHGAP26
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 23092
Gene Symbol: ARHGAP26
ARHGAP26
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.600 Biomarker CTD_human

Entrez Id: 23092
Gene Symbol: ARHGAP26
ARHGAP26
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.600 Biomarker HPO

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.380 GeneticVariation BEFREE <i>PTPN11</i> gain-of-function mutation is the most common mutation found in patients with juvenile myelomonocytic leukemia and DNMT3A loss occurs in over 20% of acute myeloid leukemia patients. 29464054

2018

Entrez Id: 4928
Gene Symbol: NUP98
NUP98
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.030 GeneticVariation BEFREE Chronic myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98/HOXA9 fusion. 10565304

1999

Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.400 Biomarker BEFREE Chronic myelomonocytic leukemia requires granulocyte-macrophage colony-stimulating factor for growth in vitro and in vivo. 12384142

2002

Entrez Id: 5609
Gene Symbol: MAP2K7
MAP2K7
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.040 GeneticVariation BEFREE Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative/myelodysplastic disorder associated with mutations in the Ras-Raf-MEK-ERK-signaling pathway. 18024410

2007

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation BEFREE Juvenile myelomonocytic leukemia (JMML) is characterized by myelomonocytic cell overproduction and commonly bears activating mutations in PTPN11. 19528235

2009

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation BEFREE Juvenile Myelomonocytic Leukemia (JMML) is a relentlessly progressive myeloproliferative/myelodysplastic (MPD/MDS) hematopoietic disorder more common in patients with any one of at least three distinct genetic lesions, specifically NF1 gene loss and PTPN11 and NRAS mutations. 21681782

2011

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation BEFREE Juvenile Myelomonocytic Leukemia (JMML) is a relentlessly progressive myeloproliferative/myelodysplastic (MPD/MDS) hematopoietic disorder more common in patients with any one of at least three distinct genetic lesions, specifically NF1 gene loss and PTPN11 and NRAS mutations. 21681782

2011

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation BEFREE Juvenile Myelomonocytic Leukemia (JMML) is a relentlessly progressive myeloproliferative/myelodysplastic (MPD/MDS) hematopoietic disorder more common in patients with any one of at least three distinct genetic lesions, specifically NF1 gene loss and PTPN11 and NRAS mutations. 21681782

2011

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.030 GeneticVariation BEFREE Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS-RAF-MAP kinase signaling pathway. 22183880

2012