MCID: LKM017
MIFTS: 24

Leukemia, Acute Myeloid, Reduced Survival in malady

Genetic diseases (common) category

Summaries for Leukemia, Acute Myeloid, Reduced Survival in

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48OMIM, 34MalaCards
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MalaCards: Leukemia, Acute Myeloid, Reduced Survival in is related to juvenile myelomonocytic leukemia and acute myeloid leukemia, adult. An important gene associated with Leukemia, Acute Myeloid, Reduced Survival in is FLT3 (fms-related tyrosine kinase 3), and among its related pathways are Tyrosine Kinases / Adaptors and CNTF Signaling. The compounds lestaurtinib and gp 130 have been mentioned in the context of this disorder. Affiliated tissues include myeloid.

Description from OMIM:48 601626

Aliases & Classifications for Leukemia, Acute Myeloid, Reduced Survival in

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

leukemia, acute myeloid, reduced survival in 48


Related Diseases for Leukemia, Acute Myeloid, Reduced Survival in

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Leukemia, Acute Myeloid, Reduced Survival in:



Diseases related to leukemia, acute myeloid, reduced survival in

Symptoms for Leukemia, Acute Myeloid, Reduced Survival in

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48OMIM
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Clinical features from OMIM:

601626

Drugs & Therapeutics for Leukemia, Acute Myeloid, Reduced Survival in

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Leukemia, Acute Myeloid, Reduced Survival in

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Anatomical Context for Leukemia, Acute Myeloid, Reduced Survival in

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34MalaCards
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MalaCards organs/tissues related to Leukemia, Acute Myeloid, Reduced Survival in:

34
Myeloid

Animal Models for Leukemia, Acute Myeloid, Reduced Survival in or affiliated genes

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Publications for Leukemia, Acute Myeloid, Reduced Survival in

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Variations for Leukemia, Acute Myeloid, Reduced Survival in

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Leukemia, Acute Myeloid, Reduced Survival in:

65
id Symbol AA change Variation ID SNP ID
1JAK2p.Lys607AsnVAR_032696
2JAK2p.Val617PheVAR_032697
3SETBP1p.Gly870SerVAR_063809
4SETBP1p.Ser854AlaVAR_069848
5SETBP1p.Gly870ArgVAR_069854
6SETBP1p.Ile871SerVAR_069856

Clinvar genetic disease variations for Leukemia, Acute Myeloid, Reduced Survival in:

1 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1KRASKRAS, 3-BP INS, GLY11INSinsertionPathogenic
2KITNM_000222.2(KIT): c.2446G> T (p.Asp816Tyr)single nucleotide variantPathogenicrs121913506GRCh37Chr 4, 55599320: 55599320
3NPM1NM_002520.6(NPM1): c.860_863dupTCTG (p.Trp288Cysfs)duplicationPathogenicGRCh38Chr 5, 171410540: 171410543
4NPM1NM_002520.6(NPM1): c.863_864insCATG (p.Trp288Cysfs)insertionPathogenicGRCh38Chr 5, 171410543: 171410544
5NPM1NM_002520.6(NPM1): c.863_864insCGTG (p.Trp288Cysfs)insertionPathogenicGRCh38Chr 5, 171410543: 171410544
6NPM1NM_002520.6(NPM1): c.863_864insCCTG (p.Trp288Cysfs)insertionPathogenicGRCh38Chr 5, 171410543: 171410544
7JAK2NM_004972.3(JAK2): c.1849G> T (p.Val617Phe)single nucleotide variantPathogenic, risk factorrs77375493GRCh37Chr 9, 5073770: 5073770
8JAK2NM_004972.3(JAK2): c.1821G> C (p.Lys607Asn)single nucleotide variantPathogenicrs121912472GRCh37Chr 9, 5073742: 5073742
9FLT3NM_004119.2(FLT3): c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)insertionPathogenicrs398122514GRCh37Chr 13, 28592624: 28592625
10FLT3NM_004119.2(FLT3): c.2504A> T (p.Asp835Val)single nucleotide variantPathogenicrs121909646GRCh37Chr 13, 28592641: 28592641
11FLT3NM_004119.2(FLT3): c.2503G> C (p.Asp835His)single nucleotide variantPathogenicrs121913488GRCh37Chr 13, 28592642: 28592642
12FLT3NM_004119.2(FLT3): c.2503G> A (p.Asp835Asn)single nucleotide variantPathogenicrs121913488GRCh37Chr 13, 28592642: 28592642
13FLT3FLT3, ASP835GLUundetermined variantPathogenic
14FLT3NM_004119.2(FLT3): c.2503G> T (p.Asp835Tyr)single nucleotide variantPathogenicrs121913488GRCh37Chr 13, 28592642: 28592642
15FLT3NM_004119.2(FLT3): c.2503_2505delGAT (p.Asp835del)deletionPathogenicrs121913486GRCh37Chr 13, 28592640: 28592642
16CEBPANM_004364.4(CEBPA): c.115_121delCCCGCGC (p.Pro39Serfs)deletionPathogenicGRCh38Chr 19, 33302294: 33302300
17CEBPANM_004364.4(CEBPA): c.148G> T (p.Glu50Ter)single nucleotide variantPathogenicrs121912791GRCh37Chr 19, 33793173: 33793173
18CEBPANM_004364.4(CEBPA): c.251A> T (p.His84Leu)single nucleotide variantPathogenicrs28931590GRCh37Chr 19, 33793070: 33793070
19CEBPANM_004364.4(CEBPA): c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln)duplicationPathogenicGRCh38Chr 19, 33301424: 33301480
20CEBPANM_004364.4(CEBPA): c.925_951dup27 (p.Leu317_Thr318insGluThrGlnGlnLysValLeuGluLeu)duplicationPathogenicGRCh38Chr 19, 33301464: 33301490
21CEBPANM_004364.4(CEBPA): c.211_214dupGCCG (p.Ala72Glyfs)duplicationPathogenicGRCh38Chr 19, 33302201: 33302204
22CEBPANM_004364.4(CEBPA): c.68delC (p.Pro23Argfs)deletionPathogenicrs137852728GRCh38Chr 19, 33302347: 33302347
23CEBPANM_004364.4(CEBPA): c.141delC (p.Ala48Profs)deletionPathogenicrs137852730GRCh37Chr 19, 33793180: 33793180
24CEBPANM_004364.4(CEBPA): c.198_201dupCTAC (p.Ile68Leufs*41)duplicationPathogenicrs137852731GRCh37Chr 19, 33793120: 33793123
25CEBPANM_004364.4(CEBPA): c.217_218insC (p.Phe73Serfs)insertionPathogenicrs137852733GRCh37Chr 19, 33793103: 33793104
26CEBPANM_004364.4(CEBPA): c.318_319dupTG (p.Asp107Valfs*54)duplicationPathogenicrs137852732GRCh37Chr 19, 33793001: 33793002
27CEBPANM_004364.4(CEBPA): c.68dupC (p.His24Alafs)duplicationPathogenicrs137852729GRCh37Chr 19, 33793252: 33793253
28TGM6NM_198994.2(TGM6): c.1550T> G (p.Leu517Trp)single nucleotide variantPathogenicrs387907097GRCh37Chr 20, 2398091: 2398091
29ETV6NM_001987.4(ETV6): c.226G> T (p.Glu76Ter)single nucleotide variantPathogenicrs121434637GRCh37Chr 12, 11992136: 11992136
30ETV6NM_001987.4(ETV6): c.1307_1308insGGG (p.His436delinsGlnGly)insertionPathogenicGRCh37Chr 12, 12043928: 12043929

Expression for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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Pathways for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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51PathCards, 5Cell Signaling Technology, 54QIAGEN
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Pathways related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0JAK2, FLT3
2
Show member pathways
9.0JAK2, FLT3

Compounds for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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46Novoseek, 62Tocris Bioscience, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1lestaurtinib46 6210.3JAK2, FLT3
2gp 130469.3JAK2, FLT3
3herbimycin a46 6210.2FLT3, JAK2
4imatinib46 52 1211.2JAK2, FLT3
55-aza-2deoxycytidine469.2JAK2, FLT3
6arsenite46 2510.1FLT3, JAK2
7phosphotyrosine469.1JAK2, FLT3
8rapamycin469.0JAK2, FLT3
9aspartate469.0JAK2, FLT3
10phosphoinositide468.9FLT3, JAK2
11thymidine46 259.7JAK2, FLT3

GO Terms for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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17Gene Ontology
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Biological processes related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.1JAK2, FLT3
2peptidyl-tyrosine phosphorylationGO:0181089.1JAK2, FLT3
3protein autophosphorylationGO:0467779.0JAK2, FLT3
4positive regulation of cell proliferationGO:0082849.0JAK2, FLT3
5cytokine-mediated signaling pathwayGO:0192218.9FLT3, JAK2
6negative regulation of cell proliferationGO:0082858.7JAK2, FLT3

Molecular functions related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase bindingGO:0435489.0JAK2, FLT3

Products for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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Sources for Leukemia, Acute Myeloid, Reduced Survival in

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet