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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   large cell carcinoma
  

Disease ID 1734
Disease large cell carcinoma
Definition
A tumor of undifferentiated (anaplastic) cells of large size. It is usually bronchogenic. (From Dorland, 27th ed)
Synonym
[m]large cell carcinoma nos
[m]large cell carcinoma nos (morphologic abnormality)
carcinoma, large cell
carcinoma, large cell [disease/finding]
carcinomas, large cell
cell carcinoma, large
cell carcinomas, large
large cell carcinoma (morphologic abnormality)
large cell carcinoma, nos
large cell carcinomas
DOID
UMLS
C0206704
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:9)
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
29108  |  PYCARD  |  CTD_human
1548  |  CYP2A6  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:102)
174  |  AFP  |  1.755  |  DISEASES
11214  |  AKAP13  |  2.1  |  DISEASES
238  |  ALK  |  2.833  |  DISEASES
369  |  ARAF  |  1.307  |  DISEASES
444  |  ASPH  |  2.021  |  DISEASES
9776  |  ATG13  |  2.026  |  DISEASES
55765  |  C1orf106  |  3.073  |  DISEASES
128602  |  C20orf85  |  1.646  |  DISEASES
722  |  C4BPA  |  1.409  |  DISEASES
796  |  CALCA  |  1.846  |  DISEASES
388743  |  CAPN8  |  2.348  |  DISEASES
960  |  CD44  |  1.694  |  DISEASES
923  |  CD6  |  1.539  |  DISEASES
926  |  CD8B  |  1.274  |  DISEASES
1029  |  CDKN2A  |  2.464  |  DISEASES
1045  |  CDX2  |  2.126  |  DISEASES
55743  |  CHFR  |  1.122  |  DISEASES
1382  |  CRABP2  |  1.073  |  DISEASES
1443  |  CSH2  |  1.945  |  DISEASES
115908  |  CTHRC1  |  1.52  |  DISEASES
147906  |  DACT3  |  1.808  |  DISEASES
1825  |  DSC3  |  2.977  |  DISEASES
1893  |  ECM1  |  1.048  |  DISEASES
84455  |  EFCAB7  |  3.274  |  DISEASES
8661  |  EIF3A  |  2.652  |  DISEASES
2045  |  EPHA7  |  1.531  |  DISEASES
2117  |  ETV3  |  1.062  |  DISEASES
2260  |  FGFR1  |  1.728  |  DISEASES
2317  |  FLNB  |  1.115  |  DISEASES
2526  |  FUT4  |  2.109  |  DISEASES
8087  |  FXR1  |  1.393  |  DISEASES
126626  |  GABPB2  |  3.359  |  DISEASES
2730  |  GCLM  |  1.232  |  DISEASES
56287  |  GKN1  |  1.762  |  DISEASES
51512  |  GTSE1  |  2.078  |  DISEASES
3098  |  HK1  |  1.03  |  DISEASES
3181  |  HNRNPA2B1  |  1.211  |  DISEASES
3231  |  HOXD1  |  2.26  |  DISEASES
3452  |  IFNA21  |  2.587  |  DISEASES
3476  |  IGBP1  |  1.275  |  DISEASES
3321  |  IGSF3  |  1.83  |  DISEASES
84289  |  ING5  |  2.191  |  DISEASES
3713  |  IVL  |  1.146  |  DISEASES
3880  |  KRT19  |  2.486  |  DISEASES
3850  |  KRT3  |  1.429  |  DISEASES
3855  |  KRT7  |  3.111  |  DISEASES
3939  |  LDHA  |  1.206  |  DISEASES
5606  |  MAP2K3  |  1.004  |  DISEASES
79648  |  MCPH1  |  1.288  |  DISEASES
388931  |  MFSD2B  |  3.784  |  DISEASES
23515  |  MORC3  |  1.481  |  DISEASES
9788  |  MTSS1  |  1.265  |  DISEASES
4588  |  MUC6  |  1.323  |  DISEASES
4609  |  MYC  |  1.47  |  DISEASES
4637  |  MYL6  |  1.964  |  DISEASES
100132406  |  NBPF10  |  2.345  |  DISEASES
400818  |  NBPF9  |  3.221  |  DISEASES
7080  |  NKX2-1  |  3.615  |  DISEASES
4839  |  NOP2  |  2.398  |  DISEASES
131870  |  NUDT16  |  1.836  |  DISEASES
4988  |  OPRM1  |  1.452  |  DISEASES
11240  |  PADI2  |  1.183  |  DISEASES
9159  |  PCSK7  |  1.343  |  DISEASES
54704  |  PDP1  |  1.723  |  DISEASES
5213  |  PFKM  |  1.091  |  DISEASES
5328  |  PLAU  |  1.642  |  DISEASES
653247  |  PRB2  |  2.043  |  DISEASES
5663  |  PSEN1  |  1.093  |  DISEASES
25797  |  QPCT  |  4.816  |  DISEASES
57111  |  RAB25  |  1.571  |  DISEASES
5865  |  RAB3B  |  2.726  |  DISEASES
11186  |  RASSF1  |  1.851  |  DISEASES
83593  |  RASSF5  |  1.683  |  DISEASES
5979  |  RET  |  1.434  |  DISEASES
6098  |  ROS1  |  2.378  |  DISEASES
6273  |  S100A2  |  2.134  |  DISEASES
5268  |  SERPINB5  |  1.731  |  DISEASES
6439  |  SFTPB  |  1.704  |  DISEASES
6520  |  SLC3A2  |  1.56  |  DISEASES
55974  |  SLC50A1  |  1.379  |  DISEASES
23583  |  SMUG1  |  2.307  |  DISEASES
6668  |  SP2  |  1.439  |  DISEASES
56910  |  STARD7  |  2.296  |  DISEASES
6794  |  STK11  |  1.851  |  DISEASES
3925  |  STMN1  |  1.313  |  DISEASES
6917  |  TCEA1  |  1.6  |  DISEASES
7075  |  TIE1  |  1.005  |  DISEASES
10440  |  TIMM17A  |  2.704  |  DISEASES
57113  |  TRPC7  |  1.894  |  DISEASES
4308  |  TRPM1  |  1.293  |  DISEASES
54575  |  UGT1A10  |  1.581  |  DISEASES
54659  |  UGT1A3  |  1.509  |  DISEASES
54579  |  UGT1A5  |  2.309  |  DISEASES
54577  |  UGT1A7  |  1.291  |  DISEASES
54576  |  UGT1A8  |  1.573  |  DISEASES
54600  |  UGT1A9  |  1.191  |  DISEASES
51720  |  UIMC1  |  1.601  |  DISEASES
7874  |  USP7  |  1.285  |  DISEASES
7422  |  VEGFA  |  1.132  |  DISEASES
8565  |  YARS  |  1.962  |  DISEASES
7694  |  ZNF135  |  1.493  |  DISEASES
84450  |  ZNF512  |  3.784  |  DISEASES
Locus(Waiting for update.)
Disease ID 1734
Disease large cell carcinoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
Disease ID 1734
Disease large cell carcinoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0221390  |  nonbacterial thrombotic endocarditis
C0007131  |  non-small cell lung cancer
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
rs121434569216355471956EGFRumls:C0206704BeFreeWe analyzed 147 NSCLC tissues [70 adenocarcinomas (AD), 62 squamous cell carcinomas (SQ), 12 large cell carcinomas (LC), and three adenosquamous carcinomas] that had not been exposed to the TKI therapies, and found 12 (8.2%; 12/147) EGFR T790M mutation in eight AD (11.4%), three SQ (4.8%), and one LC (8.3%) by the PNA-clamping PCR.0.0042671252011EGFR;EGFR-AS1755181378CT
rs28934578192873027157TP53umls:C0206704BeFreeThe results demonstrate that the excision of incorporated nucleoside analogs in mitochondrial fractions of H1299 cells increased in the presence of purified recombinant p53, or cytoplasmic extracts of large cell carcinoma 2 cells expressing endogenous wild-type p53 (but not specifically predepleted extracts) or cytoplasmic extracts of H1299 cells overexpressing wild-type p53, but not exonuclease-deficient mutant p53-R175H.0.0048958852009TP53177675088CT,A
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 1734
Disease large cell carcinoma
Case(Waiting for update.)