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	juvenile myelomonocytic leukemia

Disease ID	269
Disease	juvenile myelomonocytic leukemia
Definition	A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.
Synonym	jcml jcml - juvenile chronic myeloid leukaemia jcml - juvenile chronic myeloid leukemia jmml juvenile chronic myelogenous leukemia juvenile chronic myeloid leukaemia juvenile chronic myeloid leukemia juvenile chronic myeloid leukemia (disorder) juvenile chronic myelomonocytic leukaemia juvenile chronic myelomonocytic leukemia juvenile myelomonocytic leukaemia juvenile myelomonocytic leukemia (disorder) juvenile myelomonocytic leukemia (jmml) juvenile myelomonocytic leukemia (morphologic abnormality) juvenile myelomonocytic leukemias leukemia, juvenile myelomonocytic leukemia, myelomonocytic, juvenile leukemia, myelomonocytic, juvenile [disease/finding] myelomonocytic leukemia, juvenile myelomonocytic leukemias, juvenile
Orphanet	ORPHANET:86834
OMIM	OMIM:607785
DOID	DOID:0050458
UMLS	C0349639
MeSH	D054429
SNOMED-CT	SNOMEDCT_US_2016_09_01:277587001;SNOMEDCT_US_2016_09_01:445227008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0028326 \| noonan syndrome \| 3 C0042769 \| virus infection \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:19) 2624 \| GATA2 \| CTD_human 861 \| RUNX1 \| CTD_human 3845 \| KRAS \| CLINVAR;CTD_human;ORPHANET 5781 \| PTPN11 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 26040 \| SETBP1 \| CTD_human;UNIPROT 4893 \| NRAS \| CLINVAR;CTD_human;ORPHANET;UNIPROT 4763 \| NF1 \| CLINVAR;CTD_human;ORPHANET 1788 \| DNMT3A \| CTD_human 1437 \| CSF2 \| CTD_human 171023 \| ASXL1 \| CTD_human 10019 \| SH2B3 \| CTD_human 6237 \| RRAS \| CTD_human 2146 \| EZH2 \| CTD_human 867 \| CBL \| CLINVAR;CTD_human;ORPHANET 3718 \| JAK3 \| CTD_human 5880 \| RAC2 \| CTD_human 23092 \| ARHGAP26 \| CLINVAR;CTD_human;UNIPROT 22800 \| RRAS2 \| CTD_human 8233 \| ZRSR2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:19) 3845 \| KRAS \| CIPHER;CTD_human 4893 \| NRAS \| CIPHER;CTD_human 5781 \| PTPN11 \| CIPHER;CTD_human 6237 \| RRAS \| CTD_human 4763 \| NF1 \| CTD_human 3718 \| JAK3 \| CTD_human 171023 \| ASXL1 \| CTD_human 5880 \| RAC2 \| CTD_human 1788 \| DNMT3A \| CTD_human 867 \| CBL \| CTD_human 26040 \| SETBP1 \| CTD_human 23092 \| ARHGAP26 \| CTD_human 22800 \| RRAS2 \| CTD_human 2624 \| GATA2 \| CTD_human 2146 \| EZH2 \| CTD_human 8233 \| ZRSR2 \| CTD_human 1437 \| CSF2 \| CTD_human 861 \| RUNX1 \| CTD_human 10019 \| SH2B3 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 25 \| ABL1 \| 2.241 \| DISEASES 171023 \| ASXL1 \| 1.567 \| DISEASES 23545 \| ATP6V0A2 \| 2.221 \| DISEASES 53335 \| BCL11A \| 1.064 \| DISEASES 1050 \| CEBPA \| 1.051 \| DISEASES 1438 \| CSF2RA \| 3.158 \| DISEASES 8813 \| DPM1 \| 3.358 \| DISEASES 2120 \| ETV6 \| 1.191 \| DISEASES 2260 \| FGFR1 \| 2.068 \| DISEASES 81608 \| FIP1L1 \| 2.166 \| DISEASES 9846 \| GAB2 \| 2.954 \| DISEASES 2624 \| GATA2 \| 2.973 \| DISEASES 8833 \| GMPS \| 1.432 \| DISEASES 3563 \| IL3RA \| 1.362 \| DISEASES 3660 \| IRF2 \| 1.268 \| DISEASES 3717 \| JAK2 \| 2.626 \| DISEASES 3718 \| JAK3 \| 1.388 \| DISEASES 7403 \| KDM6A \| 1.03 \| DISEASES 389421 \| LIN28B \| 1.199 \| DISEASES 5609 \| MAP2K7 \| 2.678 \| DISEASES 4143 \| MAT1A \| 1.458 \| DISEASES 4145 \| MATK \| 1.106 \| DISEASES 4300 \| MLLT3 \| 1.037 \| DISEASES 4352 \| MPL \| 1.199 \| DISEASES 4599 \| MX1 \| 1.643 \| DISEASES 4763 \| NF1 \| 4.941 \| DISEASES 4774 \| NFIA \| 1.776 \| DISEASES 4781 \| NFIB \| 1.276 \| DISEASES 4784 \| NFIX \| 2.016 \| DISEASES 4893 \| NRAS \| 4.757 \| DISEASES 5293 \| PIK3CD \| 2.201 \| DISEASES 10622 \| POLR3G \| 2.698 \| DISEASES 5781 \| PTPN11 \| 7.73 \| DISEASES 5783 \| PTPN13 \| 1.272 \| DISEASES 11122 \| PTPRT \| 1.972 \| DISEASES 5915 \| RARB \| 1.526 \| DISEASES 6016 \| RIT1 \| 1.923 \| DISEASES 54809 \| SAMD9 \| 2.113 \| DISEASES 219285 \| SAMD9L \| 2.589 \| DISEASES 8036 \| SHOC2 \| 3.427 \| DISEASES 6494 \| SIPA1 \| 2.137 \| DISEASES 116085 \| SLC22A12 \| 1.064 \| DISEASES 6651 \| SON \| 2.089 \| DISEASES 6654 \| SOS1 \| 2.549 \| DISEASES 6714 \| SRC \| 1.773 \| DISEASES 6731 \| SRP72 \| 1.99 \| DISEASES 6427 \| SRSF2 \| 1.825 \| DISEASES 6776 \| STAT5A \| 3.196 \| DISEASES 54790 \| TET2 \| 3.936 \| DISEASES 7454 \| WAS \| 1.281 \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) PTPN11 \| 12q24.13 NF1 \| 17q11.2 CBL \| 11q23.3 NRAS \| 1p13.2 KRAS \| 12p12.1

Disease ID	269
Disease	juvenile myelomonocytic leukemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0010783 \| Erythema \| 1 HP:0002664 \| Neoplasia \| 1 HP:0001974 \| Leukocytosis \| 1

Disease ID	269
Disease	juvenile myelomonocytic leukemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1963220 \| pulmonary hypertension C0598766 \| leukemogenesis C0042769 \| viral infections C0024143 \| lupus nephritis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0598766 \| leukemogenesis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:31)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs112445441	NA	3845	KRAS	umls:C0349639	CLINVAR	NA	0.447805801	NA	KRAS	12	25245347	C	A,G,T
rs121434596	NA	4893	NRAS	umls:C0349639	CLINVAR	NA	0.489977336	NA	NRAS	1	114716123	C	T,G,A
rs121913237	NA	4893	NRAS	umls:C0349639	CLINVAR	NA	0.489977336	NA	NRAS	1	114716126	C	T,G,A
rs121913250	NA	4893	NRAS	umls:C0349639	CLINVAR	NA	0.489977336	NA	NRAS	1	114716127	C	T,G,A
rs121913529	NA	3845	KRAS	umls:C0349639	CLINVAR	NA	0.447805801	NA	KRAS	12	25245350	C	T,G,A
rs121913530	NA	3845	KRAS	umls:C0349639	CLINVAR	NA	0.447805801	NA	KRAS	12	25245351	C	T,G,A
rs121918454	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112450395	C	G,T
rs121918458	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112489080	T	A,G
rs121918460	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112450364	T	A,G
rs121918461	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112450362	A	C,G,T
rs121918462	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112450398	C	T
rs121918464	21930766	5781	PTPN11	umls:C0349639	BeFree	Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias.	0.582212083	2011	PTPN11	12	112450406	G	A,C
rs121918464	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112450406	G	A,C
rs121918465	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112450407	A	C,G,T
rs121918546	NA	23092	ARHGAP26	umls:C0349639	CLINVAR	NA	0.360271442	NA	ARHGAP26	5	143041855	A	C,G
rs137854555	NA	4763	NF1	umls:C0349639	CLINVAR	NA	0.443800186	NA	NF1	17	31261810	G	A
rs267606602	NA	4763	NF1	umls:C0349639	CLINVAR	NA	0.443800186	NA	NF1	17	31221842	A	G
rs28933388	12717436	5781	PTPN11	umls:C0349639	UNIPROT	Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.	0.582212083	2003	NA	NA	NA	NA	NA
rs386626619	16781478	3717	JAK2	umls:C0349639	BeFree	In addition, Bcr/Abl-negative classic myeloproliferative disorders are characterized by recurrent JAK2(V617F) mutations, whereas other mutations affecting the RAS signaling pathway molecules have been associated with juvenile myelomonocytic leukemia.	0.003538676	2006	NA	NA	NA	NA	NA
rs386626619	20955399	861	RUNX1	umls:C0349639	BeFree	Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative syndromes, and more specifically in CMML but were not found in JMML.	0.123810118	2010	NA	NA	NA	NA	NA
rs386626619	20955399	54790	TET2	umls:C0349639	BeFree	Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative syndromes, and more specifically in CMML but were not found in JMML.	0.002171535	2010	NA	NA	NA	NA	NA
rs387906666	25939664	867	CBL	umls:C0349639	BeFree	Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.	0.364071628	2015	CBL	11	119278182	A	G
rs397507510	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112450361	G	A,C
rs397507520	22315187	5781	PTPN11	umls:C0349639	BeFree	Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.	0.582212083	2012	PTPN11	12	112453279	G	C,T
rs397507520	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112453279	G	C,T
rs397507545	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112489083	G	A,C
rs397507548	NA	5781	PTPN11	umls:C0349639	CLINVAR	NA	0.582212083	NA	PTPN11	12	112489093	A	C
rs727504426	NA	867	CBL	umls:C0349639	CLINVAR	NA	0.364071628	NA	CBL	11	119278508	A	G
rs77375493	20955399	861	RUNX1	umls:C0349639	BeFree	Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative syndromes, and more specifically in CMML but were not found in JMML.	0.123810118	2010	JAK2;INSL6	9	5073770	G	A,T
rs77375493	16781478	3717	JAK2	umls:C0349639	BeFree	In addition, Bcr/Abl-negative classic myeloproliferative disorders are characterized by recurrent JAK2(V617F) mutations, whereas other mutations affecting the RAS signaling pathway molecules have been associated with juvenile myelomonocytic leukemia.	0.003538676	2006	JAK2;INSL6	9	5073770	G	A,T
rs77375493	20955399	54790	TET2	umls:C0349639	BeFree	Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative syndromes, and more specifically in CMML but were not found in JMML.	0.002171535	2010	JAK2;INSL6	9	5073770	G	A,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	269
Disease	juvenile myelomonocytic leukemia
Case	(Waiting for update.)