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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   atypical chronic myeloid leukemia
  

Disease ID 1021
Disease atypical chronic myeloid leukemia
Definition
A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL).
Synonym
[m]subacute myeloid leukaemia
[m]subacute myeloid leukaemia (disorder)
[m]subacute myeloid leukemia
[m]subacute myeloid leukemia (morphologic abnormality)
acml
atypical chronic myeloid leukaemia
atypical chronic myeloid leukaemia, bcr/abl negative
atypical chronic myeloid leukaemia, philadelphia chromosome (ph1) negative
atypical chronic myeloid leukemia (disorder)
atypical chronic myeloid leukemia, bcr-abl1 negative
atypical chronic myeloid leukemia, bcr/abl negative
atypical chronic myeloid leukemia, bcr/abl negative (morphologic abnormality)
atypical chronic myeloid leukemia, philadelphia chromosome (ph1) negative
atypical cml
chronic myeloid leukemia, atypical
leukemia phila neg
leukemia, chronic myeloid, atypical
leukemia, myelogenous, ph1 negative
leukemia, myelogenous, ph1-negative
leukemia, myeloid, chronic, atypical
leukemia, myeloid, chronic, atypical, bcr-abl negative
leukemia, myeloid, chronic, atypical, bcr-abl negative [disease/finding]
leukemia, myeloid, ph1 negative
leukemia, myeloid, ph1-negative
leukemia, myeloid, philadelphia negative
leukemia, myeloid, philadelphia-negative
leukemia, ph1-negative myelogenous
leukemia, ph1-negative myeloid
leukemia, philadelphia-negative myeloid
leukemias, ph1-negative myelogenous
leukemias, ph1-negative myeloid
leukemias, philadelphia-negative myeloid
myelogenous leukemia, ph1 negative
myelogenous leukemia, ph1-negative
myelogenous leukemias, ph1-negative
myeloid leukemia, ph1 negative
myeloid leukemia, ph1-negative
myeloid leukemia, philadelphia negative
myeloid leukemia, philadelphia-negative
myeloid leukemia, subacute
myeloid leukemias, ph1-negative
myeloid leukemias, philadelphia-negative
ph1-negative myelogenous leukemia
ph1-negative myelogenous leukemias
ph1-negative myeloid leukemia
ph1-negative myeloid leukemias
philadelphia-negative myelogenous leukemia
philadelphia-negative myeloid leukemia
philadelphia-negative myeloid leukemias
subacute granulocytic leukaemia [obs]
subacute granulocytic leukemia
subacute granulocytic leukemia [obs]
subacute monocytic leukaemia [obs]
subacute monocytic leukemia [obs]
subacute myelogenous leukaemia [obs]
subacute myelogenous leukemia
subacute myelogenous leukemia [obs]
subacute myeloid leukaemia
subacute myeloid leukaemia -retired-
subacute myeloid leukaemia [obs]
subacute myeloid leukemia
subacute myeloid leukemia (disorder)
subacute myeloid leukemia (morphologic abnormality)
subacute myeloid leukemia -retired-
subacute myeloid leukemia [obs]
Orphanet
DOID
UMLS
C1292772
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0152095  |  trisomy 13  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
26040  |  SETBP1  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:43)
25  |  ABL1  |  4.448  |  DISEASES
25  |  ABL1  |  3.812  |  DISEASES
265  |  AMELX  |  1.58  |  DISEASES
171023  |  ASXL1  |  4.027  |  DISEASES
722  |  C4BPA  |  3.249  |  DISEASES
722  |  C4BPA  |  2.227  |  DISEASES
811  |  CALR  |  2.289  |  DISEASES
54875  |  CNTLN  |  2.003  |  DISEASES
6900  |  CNTN2  |  1.731  |  DISEASES
1441  |  CSF3R  |  5.092  |  DISEASES
1441  |  CSF3R  |  2.579  |  DISEASES
8813  |  DPM1  |  2.899  |  DISEASES
2120  |  ETV6  |  1.336  |  DISEASES
2159  |  F10  |  1.13  |  DISEASES
2260  |  FGFR1  |  3.061  |  DISEASES
2260  |  FGFR1  |  1.565  |  DISEASES
81608  |  FIP1L1  |  1.369  |  DISEASES
2811  |  GP1BA  |  1.208  |  DISEASES
51361  |  HOOK1  |  3.32  |  DISEASES
3205  |  HOXA9  |  1.388  |  DISEASES
3563  |  IL3RA  |  1.155  |  DISEASES
3716  |  JAK1  |  2.79  |  DISEASES
3716  |  JAK1  |  1.854  |  DISEASES
3717  |  JAK2  |  3.724  |  DISEASES
3717  |  JAK2  |  1.887  |  DISEASES
7403  |  KDM6A  |  1.78  |  DISEASES
122773  |  KLHDC1  |  4.463  |  DISEASES
4893  |  NRAS  |  2.46  |  DISEASES
4893  |  NRAS  |  1.546  |  DISEASES
5236  |  PGM1  |  1.738  |  DISEASES
5781  |  PTPN11  |  3.306  |  DISEASES
5781  |  PTPN11  |  2.58  |  DISEASES
23451  |  SF3B1  |  2.817  |  DISEASES
116085  |  SLC22A12  |  1.814  |  DISEASES
4093  |  SMAD9  |  2.56  |  DISEASES
6711  |  SPTBN1  |  2.656  |  DISEASES
6427  |  SRSF2  |  3.046  |  DISEASES
54790  |  TET2  |  3.878  |  DISEASES
54790  |  TET2  |  2.872  |  DISEASES
10188  |  TNK2  |  3.33  |  DISEASES
10188  |  TNK2  |  2.308  |  DISEASES
7158  |  TP53BP1  |  1.457  |  DISEASES
7750  |  ZMYM2  |  2.213  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
CSF3R  |  1p34.3
Disease ID 1021
Disease atypical chronic myeloid leukemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1021
Disease atypical chronic myeloid leukemia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0795851  |  trisomy 14
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs386626619185555253717JAK2umls:C1292772BeFreeAtypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm.0.0062630262008NANANANANA
rs77375493185555253717JAK2umls:C1292772BeFreeAtypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm.0.0062630262008JAK2;INSL695073770GA,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 1021
Disease atypical chronic myeloid leukemia
Case(Waiting for update.)