MCID: LKM016
MIFTS: 19

Leukemia, Acute Myeloid, Somatic malady

Genetic diseases (common) category

Summaries for Leukemia, Acute Myeloid, Somatic

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48OMIM, 34MalaCards
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MalaCards: Leukemia, Acute Myeloid, Somatic is related to acute myeloid leukemia, adult and myelodysplastic syndromes. An important gene associated with Leukemia, Acute Myeloid, Somatic is ETV6 (ets variant 6). The compounds agar and imatinib have been mentioned in the context of this disorder. Affiliated tissues include myeloid.

Description from OMIM:48 601626

Aliases & Classifications for Leukemia, Acute Myeloid, Somatic

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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, somatic 48


Related Diseases for Leukemia, Acute Myeloid, Somatic

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Leukemia, Acute Myeloid, Somatic:



Diseases related to leukemia, acute myeloid, somatic

Symptoms for Leukemia, Acute Myeloid, Somatic

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48OMIM
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Clinical features from OMIM:

601626

Drugs & Therapeutics for Leukemia, Acute Myeloid, Somatic

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

Search CenterWatch for Leukemia, Acute Myeloid, Somatic

Drug clinical trials:

Search ClinicalTrials for Leukemia, Acute Myeloid, Somatic

Search NIH Clinical Center for Leukemia, Acute Myeloid, Somatic

Search CenterWatch for Leukemia, Acute Myeloid, Somatic

Genetic Tests for Leukemia, Acute Myeloid, Somatic

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Anatomical Context for Leukemia, Acute Myeloid, Somatic

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34MalaCards
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MalaCards organs/tissues related to Leukemia, Acute Myeloid, Somatic:

34
Myeloid

Animal Models for Leukemia, Acute Myeloid, Somatic or affiliated genes

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Publications for Leukemia, Acute Myeloid, Somatic

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Variations for Leukemia, Acute Myeloid, Somatic

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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, Somatic:

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, Somatic:

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, Somatic

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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, Somatic

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Pathways for genes affiliated with Leukemia, Acute Myeloid, Somatic

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Compounds for genes affiliated with Leukemia, Acute Myeloid, Somatic

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46Novoseek, 52PharmGKB, 12DrugBank
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Compounds related to Leukemia, Acute Myeloid, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agar469.0ETV6, JAK2
2imatinib46 52 1210.7ETV6, JAK2

GO Terms for genes affiliated with Leukemia, Acute Myeloid, Somatic

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

idNameGO IDScoreTop Affiliating Genes
1cell differentiationGO:0301549.0ETV6, JAK2

Products for genes affiliated with Leukemia, Acute Myeloid, Somatic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leukemia, Acute Myeloid, Somatic

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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