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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   acute t cell leukemia
  

Disease ID 1443
Disease acute t cell leukemia
Definition
A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common.
Synonym
acute t cell lymphoblastic leukemia
acute t cell lymphocytic leukemia
acute t-cell leukemia
acute t-cell leukemias
acute t-cell lymphoblastic leukaemia
acute t-cell lymphoblastic leukemia
acute t-cell lymphocytic leukemia
acute t-lymphocytic leukemia
acute t-lymphocytic leukemias
cortical t all
leukemia, acute t-cell
leukemia, acute t-lymphocytic
leukemia, lymphoblastic, acute, t cell
leukemia, lymphoblastic, acute, t-cell
leukemia, lymphocytic, acute t cell
leukemia, lymphocytic, acute, t-cell
leukemia, t-cell, acute
leukemias, acute t-cell
leukemias, acute t-lymphocytic
lymphoblastic leukemia, acute, t cell
lymphoblastic leukemia, acute, t-cell
lymphocytic leukemia acute bt
lymphocytic leukemia, t cell, acute
lymphocytic leukemia, t-cell, acute
pre t-all
pre-t all
precursor t cell lymphoblastic leukemia
precursor t cell lymphoblastic leukemia lymphoma
precursor t cell lymphoblastic lymphoma
precursor t-cell lymphoblastic leukaemia
precursor t-cell lymphoblastic leukemia
precursor t-cell lymphoblastic leukemia (morphologic abnormality)
precursor t-cell lymphoblastic leukemia-lymphoma
precursor t-cell lymphoblastic leukemia-lymphoma [disease/finding]
precursor t-lymphoblastic leukemia
precursor t-lymphoblastic leukemia (t-cell all)
pro-t all
t acute lymphoblastic leukemia
t cell leukemia, acute
t lymphocytic leukemia, acute
t-cell acute lymphoblastic leukaemia
t-cell acute lymphoblastic leukemia
t-cell acute lymphoblastic leukemia (disorder)
t-cell acute lymphoblastic leukemias
t-cell acute lymphocytic leukemia
t-cell all
t-cell leukemia, acute
t-cell leukemias, acute
t-cell type acute leukemia
t-lymphocytic leukemia, acute
t-lymphocytic leukemias, acute
DOID
UMLS
C1961099
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:12)
C0023418  |  leukemia  |  3
C0281963  |  red cell aplasia  |  1
C0023448  |  lymphoblastic leukemia  |  1
C0034902  |  pure red cell aplasia  |  1
C0023449  |  acute lymphoblastic leukemia  |  1
C0442874  |  neuropathy  |  1
C0029443  |  osteomyelitis  |  1
C0004134  |  ataxia  |  1
C0010414  |  cryptococcus neoformans  |  1
C0004135  |  ataxia telangiectasia  |  1
C0029132  |  optic neuropathy  |  1
C0027947  |  neutropenia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:18)
5771  |  PTPN2  |  CTD_human
84295  |  PHF6  |  CTD_human
9429  |  ABCG2  |  CTD_human
8915  |  BCL10  |  CLINVAR
6125  |  RPL5  |  CTD_human
4851  |  NOTCH1  |  CTD_human
4004  |  LMO1  |  CTD_human
4005  |  LMO2  |  CTD_human
581  |  BAX  |  CLINVAR
64919  |  BCL11B  |  CTD_human
55294  |  FBXW7  |  CTD_human
2475  |  MTOR  |  CTD_human
6886  |  TAL1  |  CTD_human
3195  |  TLX1  |  CTD_human
4602  |  MYB  |  CTD_human
3575  |  IL7R  |  CTD_human
4849  |  CNOT3  |  CTD_human
6134  |  RPL10  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:20)
207  |  AKT1  |  CIPHER
55294  |  FBXW7  |  CIPHER;CTD_human
4851  |  NOTCH1  |  CIPHER;CTD_human
5290  |  PIK3CA  |  CIPHER
5728  |  PTEN  |  CIPHER
7157  |  TP53  |  CIPHER
4004  |  LMO1  |  CTD_human
4005  |  LMO2  |  CTD_human
6125  |  RPL5  |  CTD_human
6886  |  TAL1  |  CTD_human
3195  |  TLX1  |  CTD_human
3575  |  IL7R  |  CTD_human
5771  |  PTPN2  |  CTD_human
4849  |  CNOT3  |  CTD_human
84295  |  PHF6  |  CTD_human
2475  |  MTOR  |  CTD_human
9429  |  ABCG2  |  CTD_human
6134  |  RPL10  |  CTD_human
4602  |  MYB  |  CTD_human
64919  |  BCL11B  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:52)
238  |  ALK  |  1.061  |  DISEASES
2683  |  B4GALT1  |  2.151  |  DISEASES
8945  |  BTRC  |  1.762  |  DISEASES
84433  |  CARD11  |  1.945  |  DISEASES
840  |  CASP7  |  1.216  |  DISEASES
841  |  CASP8  |  1.023  |  DISEASES
896  |  CCND3  |  2.112  |  DISEASES
977  |  CD151  |  2.743  |  DISEASES
914  |  CD2  |  1.667  |  DISEASES
921  |  CD5  |  2.191  |  DISEASES
4267  |  CD99  |  1.47  |  DISEASES
26586  |  CKAP2  |  2.389  |  DISEASES
1612  |  DAPK1  |  1.225  |  DISEASES
1676  |  DFFA  |  1.616  |  DISEASES
1677  |  DFFB  |  2.486  |  DISEASES
56616  |  DIABLO  |  1.094  |  DISEASES
1791  |  DNTT  |  2.002  |  DISEASES
2268  |  FGR  |  1.864  |  DISEASES
81608  |  FIP1L1  |  1.474  |  DISEASES
2534  |  FYN  |  1.084  |  DISEASES
2959  |  GTF2B  |  2.313  |  DISEASES
3205  |  HOXA9  |  1.315  |  DISEASES
3292  |  HSD17B1  |  1.889  |  DISEASES
50615  |  IL21R  |  2.161  |  DISEASES
3725  |  JUN  |  1.818  |  DISEASES
3932  |  LCK  |  1.078  |  DISEASES
8861  |  LDB1  |  2.282  |  DISEASES
3939  |  LDHA  |  1.082  |  DISEASES
3981  |  LIG4  |  2.001  |  DISEASES
4004  |  LMO1  |  3.418  |  DISEASES
8543  |  LMO4  |  3.332  |  DISEASES
5599  |  MAPK8  |  1.3  |  DISEASES
10367  |  MICU1  |  2.19  |  DISEASES
4311  |  MME  |  1.713  |  DISEASES
4602  |  MYB  |  1.172  |  DISEASES
4626  |  MYH8  |  2.751  |  DISEASES
4772  |  NFATC1  |  1.134  |  DISEASES
4893  |  NRAS  |  1.542  |  DISEASES
5087  |  PBX1  |  1.416  |  DISEASES
5154  |  PDGFA  |  1.315  |  DISEASES
5406  |  PNLIP  |  1.142  |  DISEASES
5932  |  RBBP8  |  2.138  |  DISEASES
253260  |  RICTOR  |  1.558  |  DISEASES
23410  |  SIRT3  |  1.192  |  DISEASES
23408  |  SIRT5  |  1.589  |  DISEASES
51548  |  SIRT6  |  1.406  |  DISEASES
51547  |  SIRT7  |  1.556  |  DISEASES
347734  |  SLC35B2  |  1.793  |  DISEASES
6693  |  SPN  |  1.618  |  DISEASES
3195  |  TLX1  |  4.006  |  DISEASES
10043  |  TOM1  |  2.919  |  DISEASES
7187  |  TRAF3  |  1.615  |  DISEASES
Locus(Waiting for update.)
Disease ID 1443
Disease acute t cell leukemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:12)
HP:0001909  |  Leukemia  |  3
HP:0001875  |  Neutropenia  |  1
HP:0012531  |  Pain  |  1
HP:0002754  |  Bone infection  |  1
HP:0001251  |  Ataxia  |  1
HP:0012378  |  Fatigue  |  1
HP:0002385  |  Paraparesis  |  1
HP:0000105  |  Renal enlargement  |  1
HP:0001138  |  Damaged optic nerve  |  1
HP:0006721  |  Acute lymphocytic leukemia  |  1
HP:0001945  |  Fever  |  1
HP:0012410  |  Pure red cell aplasia  |  1
Disease ID 1443
Disease acute t cell leukemia
Manually Symptom(Waiting for update.)
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:5)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1805794257463267298TYMSumls:C1961099BeFreeAmong the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibility to B-cell ALL (p=0.037), while TYMS 3R allele decreased susceptibility to T-cell ALL (p=0.011).0.0002714422015NBN889978251CG
rs1805794257463264683NBNumls:C1961099BeFreeAmong the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibility to B-cell ALL (p=0.037), while TYMS 3R allele decreased susceptibility to T-cell ALL (p=0.011).0.0002714422015NBN889978251CG
rs387906351NA8915BCL10umls:C1961099CLINVARNA0.120271442NABCL10185270827-T
rs398122513NA581BAXumls:C1961099CLINVARNA0.120271442NABAX1948955799GA
rs398122842NA581BAXumls:C1961099CLINVARNA0.120271442NABAX1948955715GGGGGGG-
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 1443
Disease acute t cell leukemia
Case(Waiting for update.)