Molecular Genetics (discipline)
Item
Molecular Genetics
text
C0086345 (UMLS CUI [1])
Chromosome 8, trisomy
Item
Chromosome 8 trisomy
boolean
C0432412 (UMLS CUI [1])
CBFB/MYH11 FUSION GENE
Item
CBFB Mutation Positivity
boolean
C3276534 (UMLS CUI [1])
Biological Markers
Item
Molecular Markers
boolean
C0005516 (UMLS CUI [1])
t(9;11)(p22.3;q23.3); Chromosomal translocation
Item
t(9;11)(p22;q23) Translocation
boolean
C1515800 (UMLS CUI [1,1])
C0040715 (UMLS CUI [1,2])
NPM1 Gene Mutation
Item
NPM1 Mutation Positivity
boolean
C2826175 (UMLS CUI [1])
CEBPA gene; Mutation
Item
CEBPA Mutation Positivity
boolean
C1413322 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
RUNX1/RUNX1T1 Fusion Gene
Item
AML1 / ETO + RUNX1-RUNX1T1
boolean
C1851466 (UMLS CUI [1])
PML/RARA Fusion Gene; Mutation
Item
PML-RARA Mutation Positivity
boolean
C3887967 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
FLT3 gene
Item
FLT3 Gene Positivity
boolean
C1333568 (UMLS CUI [1])
t(3;3)(q21.3;q26.2); Chromosomal translocation
Item
t(3;3) Translocation
boolean
C1515764 (UMLS CUI [1,1])
C0040715 (UMLS CUI [1,2])
t(8;21)(q22;q22); Chromosomal translocation
Item
t(8;21) Translocation
boolean
C1515794 (UMLS CUI [1,1])
C0040715 (UMLS CUI [1,2])
t(6;9)(p23;q34.1); Chromosomal translocation
Item
t(6;9) Translocation
boolean
C1515781 (UMLS CUI [1,1])
C0040715 (UMLS CUI [1,2])
Loss of Chromosome 5q
Item
del(5q)
boolean
C1521461 (UMLS CUI [1])
RUNX1 Gene Mutation
Item
RUNX1 mutation
boolean
C1515852 (UMLS CUI [1])
TET2 gene; Mutation
Item
TET2 mutation
boolean
C1825692 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
Mixed phenotype acute leukemia with t(v;11q23); MLL rearranged
Item
MLL rearranged
boolean
C2826048 (UMLS CUI [1])
ERG gene; Mutation
Item
ERG mutation
boolean
C0599295 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
RPN1-EVI1 fusion protein, human; Mutation
Item
RPN1-EVI1 mutation
boolean
C1449840 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
KIT gene; Mutation
Item
KIT mutation
boolean
C1416655 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
TP53 gene
Item
TP53
boolean
C0079419 (UMLS CUI [1])
BCR-ABL Fusion Gene
Item
BCR-ABL Mutation Positivity
boolean
C1835417 (UMLS CUI [1])
FLT3 Internal Tandem Duplication
Item
FLT3 - Internal Tandem Duplicaton (ITD)
boolean
C2348499 (UMLS CUI [1])