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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   bile duct carcinoma
  

Disease ID 1669
Disease bile duct carcinoma
Definition

Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes.

Bile duct cancer is rare. It can happen in the parts of the bile ducts that are outside or inside the liver. Cancer of the bile duct outside of the liver is much more common. Risk factors include having inflammation of the bile duct, ulcerative colitis, and some liver diseases.

Symptoms can include

  • Jaundice
  • Itchy skin
  • Fever
  • Abdominal pain

Tests to diagnose bile duct cancer may include a physical exam, imaging tests of the liver and bile ducts, blood tests, and a biopsy.

Treatments include surgery, radiation therapy, and chemotherapy.

NIH: National Cancer Institute


Synonym
bile cancer duct
bile duct cancers
bile ducts cancer
bile ducts--cancer
cancer bile duct
cancer of bile duct
cancer of the bile duct
cancer, bile duct
cancers, bile duct
carcinoma bile duct
carcinoma of bile duct
DOID
UMLS
C0740277
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:3)
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
5774  |  PTPN3  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:217)
1244  |  ABCC2  |  2.025  |  DISEASES
84740  |  AFAP1-AS1  |  2.04  |  DISEASES
174  |  AFP  |  4.653  |  DISEASES
10768  |  AHCYL1  |  1.456  |  DISEASES
150209  |  AIFM3  |  2.362  |  DISEASES
210  |  ALAD  |  1.893  |  DISEASES
11199  |  ANXA10  |  1.934  |  DISEASES
307  |  ANXA4  |  1.779  |  DISEASES
653145  |  ANXA8  |  1.9  |  DISEASES
728113  |  ANXA8L1  |  1.884  |  DISEASES
8289  |  ARID1A  |  2.959  |  DISEASES
444  |  ASPH  |  2.93  |  DISEASES
8314  |  BAP1  |  1.809  |  DISEASES
80114  |  BICC1  |  1.845  |  DISEASES
648  |  BMI1  |  1.731  |  DISEASES
91653  |  BOC  |  1.544  |  DISEASES
682  |  BSG  |  1.258  |  DISEASES
685  |  BTC  |  3.068  |  DISEASES
128864  |  C20orf144  |  1.767  |  DISEASES
801  |  CALM1  |  1.784  |  DISEASES
841  |  CASP8  |  1.647  |  DISEASES
842  |  CASP9  |  1.865  |  DISEASES
1233  |  CCR4  |  1.619  |  DISEASES
9332  |  CD163  |  1.455  |  DISEASES
29126  |  CD274  |  1.844  |  DISEASES
960  |  CD44  |  2.16  |  DISEASES
1029  |  CDKN2A  |  3.083  |  DISEASES
1045  |  CDX2  |  3.065  |  DISEASES
55743  |  CHFR  |  1.108  |  DISEASES
10164  |  CHST4  |  2.037  |  DISEASES
26097  |  CHTOP  |  1.934  |  DISEASES
10970  |  CKAP4  |  1.249  |  DISEASES
1364  |  CLDN4  |  1.781  |  DISEASES
1366  |  CLDN7  |  1.49  |  DISEASES
29034  |  CPS1-IT1  |  2.218  |  DISEASES
9586  |  CREB5  |  1.322  |  DISEASES
1490  |  CTGF  |  1.368  |  DISEASES
1499  |  CTNNB1  |  3.601  |  DISEASES
8451  |  CUL4A  |  1.966  |  DISEASES
6387  |  CXCL12  |  1.426  |  DISEASES
7852  |  CXCR4  |  1.93  |  DISEASES
30827  |  CXXC1  |  1.441  |  DISEASES
1543  |  CYP1A1  |  1.299  |  DISEASES
1544  |  CYP1A2  |  2.184  |  DISEASES
1612  |  DAPK1  |  1.334  |  DISEASES
25853  |  DCAF12  |  2.401  |  DISEASES
1630  |  DCC  |  1.212  |  DISEASES
25981  |  DNAH1  |  1.619  |  DISEASES
1786  |  DNMT1  |  1.663  |  DISEASES
9166  |  EBAG9  |  2.061  |  DISEASES
8661  |  EIF3A  |  1.268  |  DISEASES
1977  |  EIF4E  |  1.49  |  DISEASES
1978  |  EIF4EBP1  |  1.038  |  DISEASES
339221  |  ENPP7  |  1.17  |  DISEASES
284656  |  EPHA10  |  1.276  |  DISEASES
2042  |  EPHA3  |  1.965  |  DISEASES
83481  |  EPPK1  |  1.423  |  DISEASES
7430  |  EZR  |  1.42  |  DISEASES
25817  |  FAM19A5  |  2.657  |  DISEASES
356  |  FASLG  |  1.75  |  DISEASES
2260  |  FGFR1  |  1.395  |  DISEASES
2263  |  FGFR2  |  3.094  |  DISEASES
2272  |  FHIT  |  1.606  |  DISEASES
11259  |  FILIP1L  |  1.231  |  DISEASES
51661  |  FKBP7  |  1.63  |  DISEASES
6624  |  FSCN1  |  2.549  |  DISEASES
5349  |  FXYD3  |  1.528  |  DISEASES
728441  |  GGT2  |  2.643  |  DISEASES
152007  |  GLIPR2  |  1.6  |  DISEASES
2778  |  GNAS  |  1.945  |  DISEASES
346562  |  GNAT3  |  1.634  |  DISEASES
51280  |  GOLM1  |  1.936  |  DISEASES
57120  |  GOPC  |  2.49  |  DISEASES
151306  |  GPBAR1  |  1.947  |  DISEASES
2719  |  GPC3  |  3.705  |  DISEASES
2950  |  GSTP1  |  1.135  |  DISEASES
3039  |  HBA1  |  1.092  |  DISEASES
3045  |  HBD  |  1.441  |  DISEASES
3068  |  HDGF  |  2.776  |  DISEASES
3091  |  HIF1A  |  1.293  |  DISEASES
84072  |  HORMAD1  |  1.037  |  DISEASES
3316  |  HSPB2  |  1.113  |  DISEASES
3418  |  IDH2  |  3.775  |  DISEASES
3481  |  IGF2  |  1.23  |  DISEASES
3638  |  INSIG1  |  2.651  |  DISEASES
55756  |  INTS9  |  2.221  |  DISEASES
79831  |  KDM8  |  1.146  |  DISEASES
3838  |  KPNA2  |  1.402  |  DISEASES
3875  |  KRT18  |  2.179  |  DISEASES
3880  |  KRT19  |  5.307  |  DISEASES
3855  |  KRT7  |  4.851  |  DISEASES
55353  |  LAPTM4B  |  1.402  |  DISEASES
90632  |  LINC00473  |  1.985  |  DISEASES
8513  |  LIPF  |  1.224  |  DISEASES
4017  |  LOXL2  |  1.532  |  DISEASES
121227  |  LRIG3  |  1.162  |  DISEASES
4097  |  MAFG  |  1.548  |  DISEASES
81557  |  MAGED4B  |  1.904  |  DISEASES
28986  |  MAGEH1  |  1.82  |  DISEASES
5609  |  MAP2K7  |  2.69  |  DISEASES
4216  |  MAP3K4  |  1.082  |  DISEASES
5599  |  MAPK8  |  1.222  |  DISEASES
4082  |  MARCKS  |  1.58  |  DISEASES
4170  |  MCL1  |  3.115  |  DISEASES
4192  |  MDK  |  1.049  |  DISEASES
4193  |  MDM2  |  1.97  |  DISEASES
8076  |  MFAP5  |  1.069  |  DISEASES
84864  |  MINA  |  1.114  |  DISEASES
284424  |  MIR7-3HG  |  1.405  |  DISEASES
4311  |  MME  |  2.423  |  DISEASES
4318  |  MMP9  |  3.259  |  DISEASES
10232  |  MSLN  |  1.94  |  DISEASES
2475  |  MTOR  |  1.872  |  DISEASES
9788  |  MTSS1  |  1.206  |  DISEASES
4582  |  MUC1  |  4.321  |  DISEASES
4583  |  MUC2  |  4.251  |  DISEASES
4585  |  MUC4  |  2.782  |  DISEASES
4586  |  MUC5AC  |  4.395  |  DISEASES
4588  |  MUC6  |  3.463  |  DISEASES
4595  |  MUTYH  |  1.216  |  DISEASES
4609  |  MYC  |  2.41  |  DISEASES
9  |  NAT1  |  1.66  |  DISEASES
4751  |  NEK2  |  2.223  |  DISEASES
4886  |  NPY1R  |  1.086  |  DISEASES
9971  |  NR1H4  |  1.754  |  DISEASES
8856  |  NR1I2  |  1.613  |  DISEASES
2494  |  NR5A2  |  1.066  |  DISEASES
55968  |  NSFL1C  |  1.105  |  DISEASES
4978  |  OPCML  |  2.149  |  DISEASES
5005  |  ORM2  |  2.014  |  DISEASES
142  |  PARP1  |  2.029  |  DISEASES
55193  |  PBRM1  |  2.862  |  DISEASES
5095  |  PCCA  |  4.298  |  DISEASES
5154  |  PDGFA  |  1.97  |  DISEASES
80310  |  PDGFD  |  1.223  |  DISEASES
5178  |  PEG3  |  1.338  |  DISEASES
5223  |  PGAM1  |  1.429  |  DISEASES
1263  |  PLK3  |  1.485  |  DISEASES
10631  |  POSTN  |  1.776  |  DISEASES
51535  |  PPHLN1  |  2.22  |  DISEASES
5478  |  PPIA  |  1.106  |  DISEASES
5567  |  PRKACB  |  1.352  |  DISEASES
5573  |  PRKAR1A  |  1.559  |  DISEASES
8842  |  PROM1  |  3.204  |  DISEASES
112476  |  PRRT2  |  5.165  |  DISEASES
5706  |  PSMC6  |  1.223  |  DISEASES
55269  |  PSPC1  |  1.505  |  DISEASES
5728  |  PTEN  |  2.774  |  DISEASES
5743  |  PTGS2  |  3.379  |  DISEASES
5744  |  PTHLH  |  1.393  |  DISEASES
5784  |  PTPN14  |  2.125  |  DISEASES
5774  |  PTPN3  |  2.053  |  DISEASES
221002  |  RASGEF1A  |  1.729  |  DISEASES
11186  |  RASSF1  |  2.005  |  DISEASES
55758  |  RCOR3  |  2.197  |  DISEASES
8434  |  RECK  |  2.315  |  DISEASES
54894  |  RNF43  |  1.897  |  DISEASES
6091  |  ROBO1  |  1.006  |  DISEASES
6092  |  ROBO2  |  2.244  |  DISEASES
6098  |  ROS1  |  3.315  |  DISEASES
6171  |  RPL41  |  1.152  |  DISEASES
3921  |  RPSA  |  1.448  |  DISEASES
55680  |  RUFY2  |  2.233  |  DISEASES
864  |  RUNX3  |  1.703  |  DISEASES
6273  |  S100A2  |  1.161  |  DISEASES
6275  |  S100A4  |  2.799  |  DISEASES
6277  |  S100A6  |  1.479  |  DISEASES
6280  |  S100A9  |  1.254  |  DISEASES
9294  |  S1PR2  |  1.988  |  DISEASES
389432  |  SAMD5  |  1.839  |  DISEASES
60485  |  SAV1  |  1.635  |  DISEASES
27111  |  SDCBP2  |  1.872  |  DISEASES
5265  |  SERPINA1  |  2.016  |  DISEASES
2810  |  SFN  |  2.503  |  DISEASES
53358  |  SHC3  |  3.225  |  DISEASES
6497  |  SKI  |  1.234  |  DISEASES
6564  |  SLC15A1  |  1.754  |  DISEASES
6580  |  SLC22A1  |  1.698  |  DISEASES
2030  |  SLC29A1  |  2.523  |  DISEASES
6513  |  SLC2A1  |  1.615  |  DISEASES
10568  |  SLC34A2  |  1.353  |  DISEASES
81539  |  SLC38A1  |  2.335  |  DISEASES
4089  |  SMAD4  |  2.982  |  DISEASES
23583  |  SMUG1  |  3.366  |  DISEASES
64754  |  SMYD3  |  1.964  |  DISEASES
6696  |  SPP1  |  1.55  |  DISEASES
6700  |  SPRR2A  |  2.402  |  DISEASES
6714  |  SRC  |  1.196  |  DISEASES
222183  |  SRRM3  |  2.267  |  DISEASES
6794  |  STK11  |  1.664  |  DISEASES
10460  |  TACC3  |  2.246  |  DISEASES
4070  |  TACSTD2  |  1.425  |  DISEASES
6925  |  TCF4  |  1.138  |  DISEASES
10732  |  TCFL5  |  5.238  |  DISEASES
163589  |  TDRD5  |  2.566  |  DISEASES
7033  |  TFF3  |  1.443  |  DISEASES
7048  |  TGFBR2  |  1.297  |  DISEASES
9874  |  TLK1  |  1.929  |  DISEASES
79838  |  TMC5  |  2.037  |  DISEASES
7124  |  TNF  |  2.002  |  DISEASES
10766  |  TOB2  |  1.769  |  DISEASES
7164  |  TPD52L1  |  1.311  |  DISEASES
10612  |  TRIM3  |  1.321  |  DISEASES
89122  |  TRIM4  |  1.723  |  DISEASES
10100  |  TSPAN2  |  1.174  |  DISEASES
284076  |  TTLL6  |  2.028  |  DISEASES
9039  |  UBA3  |  1.41  |  DISEASES
10720  |  UGT2B11  |  1.962  |  DISEASES
7422  |  VEGFA  |  2.625  |  DISEASES
11326  |  VSIG4  |  1.947  |  DISEASES
7477  |  WNT7B  |  2.024  |  DISEASES
9589  |  WTAP  |  2.052  |  DISEASES
51741  |  WWOX  |  1.292  |  DISEASES
331  |  XIAP  |  1.983  |  DISEASES
6935  |  ZEB1  |  1.897  |  DISEASES
80139  |  ZNF703  |  1.081  |  DISEASES
65982  |  ZSCAN18  |  3.257  |  DISEASES
Locus(Waiting for update.)
Disease ID 1669
Disease bile duct carcinoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:4)
HP:0000952  |  Yellow skin  |  2
HP:0030731  |  Carcinoma  |  2
HP:0002664  |  Neoplasia  |  2
HP:0030153  |  Cholangiocarcinoma  |  2
Disease ID 1669
Disease bile duct carcinoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:5)
C0400979  |  biliary obstruction
C0333577  |  cholesterosis
C0153687  |  cutaneous metastasis
C0022354  |  obstructive jaundice
C0008370  |  cholestasis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0022354  |  obstructive jaundice  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:7)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1003723182966453949LDLRumls:C0740277BeFreeMale and female carriers of the T allele of LDLR IVS9-30C>T (rs1003723) had a 1.5-fold risk of bile duct cancer.0.0002714422008LDLR;MIR68861911113505CT
rs1126579186768703579CXCR2umls:C0740277BeFreeOf the 10 genes with multiple SNPs from which we inferred haplotypes, only one IL8RB haplotype, consisting of 3 SNPs (rs2230054, rs1126579, and rs1126580), was associated with the risk of bile duct cancer (P = 0.003) and biliary stones (P = 0.02), relative to the most frequent haplotype.0.0002714422008CXCR22218136011TC
rs1126580186768703579CXCR2umls:C0740277BeFreeOf the 10 genes with multiple SNPs from which we inferred haplotypes, only one IL8RB haplotype, consisting of 3 SNPs (rs2230054, rs1126579, and rs1126580), was associated with the risk of bile duct cancer (P = 0.003) and biliary stones (P = 0.02), relative to the most frequent haplotype.0.0002714422008CXCR22218136243GA
rs118875342106297164241ABCG8umls:C0740277BeFreeCarriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.0.0002714422011ABCG5;ABCG8243839108GA,C
rs2230054186768703579CXCR2umls:C0740277BeFreeOf the 10 genes with multiple SNPs from which we inferred haplotypes, only one IL8RB haplotype, consisting of 3 SNPs (rs2230054, rs1126579, and rs1126580), was associated with the risk of bile duct cancer (P = 0.003) and biliary stones (P = 0.02), relative to the most frequent haplotype.0.0002714422008CXCR22218135587CT
rs4986938201729496817SULT1A1umls:C0740277BeFreeAlso, the ESR2 rs4986938 (38 bp 3' of STP) GG genotype was associated with a higher risk of bile duct cancer (OR = 3.3, 95% CI 1.3-8.7) compared with the AA genotype, although this estimate was based on a small number of subjects.0.0002714422010ESR21464233098CT
rs4986938201729492100ESR2umls:C0740277BeFreeAlso, the ESR2 rs4986938 (38 bp 3' of STP) GG genotype was associated with a higher risk of bile duct cancer (OR = 3.3, 95% CI 1.3-8.7) compared with the AA genotype, although this estimate was based on a small number of subjects.0.0002714422010ESR21464233098CT
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 1669
Disease bile duct carcinoma
Case(Waiting for update.)