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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   schistosomiasis
  

Disease ID 432
Disease schistosomiasis
Definition
Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East), SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States.
Synonym
[x]schistosomiasis, unspecified
[x]schistosomiasis, unspecified (disorder)
bilharziases
bilharziasis
blood fluke infection
blood flukes
blood flukes nos
blood flukes, nos
disease caused by schistosomatidae
disease caused by schistosomatidae (disorder)
disease due to schistosomatidae
disease due to schistosomatidae (disorder)
fever, katayama
haemic distomiasis
hemic distomiasis
infection by schistosoma
infection by schistosoma (disorder)
infection by schistosoma, nos
infection caused by schistosoma
infection caused by schistosoma (disorder)
katayama fever
schistosomiases
schistosomiasis - bilharziasis
schistosomiasis [bilharziasis]
schistosomiasis [disease/finding]
schistosomiasis nos
schistosomiasis nos (disorder)
schistosomiasis, unspecified
schistosomosis
snail fever
Orphanet
DOID
ICD10
UMLS
C0036323
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:66)
C0020538  |  hypertension  |  12
C0020541  |  portal hypertension  |  12
C0005684  |  bladder cancer  |  5
C0002871  |  anemia  |  4
C0019158  |  hepatitis  |  4
C0009402  |  colorectal cancer  |  3
C0036319  |  schistosoma mansoni  |  3
C0007113  |  rectal cancer  |  3
C0002871  |  anaemia  |  3
C0042345  |  varices  |  3
C0017668  |  focal segmental glomerulosclerosis  |  2
C0020542  |  pulmonary hypertension  |  2
C0011570  |  depression  |  2
C0178664  |  glomerulosclerosis  |  2
C0022658  |  renal disease  |  2
C0023890  |  cirrhosis  |  2
C0009402  |  colorectal carcinoma  |  2
C0007137  |  squamous cell carcinoma  |  2
C0007113  |  rectal carcinoma  |  2
C0024530  |  malaria  |  2
C0036323  |  schistosomiasis  |  1
C0041696  |  major depressive disorder  |  1
C0021400  |  influenza  |  1
C0334254  |  lymphoepithelioma  |  1
C0023895  |  liver disease  |  1
C0004623  |  bacterial infection  |  1
C0014867  |  esophageal varices  |  1
C0006142  |  breast cancer  |  1
C0019163  |  hepatitis b  |  1
C0019196  |  hepatitis c  |  1
C0009186  |  coccidioidomycosis  |  1
C0013884  |  lymphatic filariasis  |  1
C0042721  |  viral hepatitis  |  1
C0242497  |  intestinal schistosomiasis  |  1
C0017658  |  glomerulonephritis  |  1
C1327709  |  rectosigmoid cancer  |  1
C0156312  |  testicular atrophy  |  1
C0162429  |  malnutrition  |  1
C0747256  |  parasitic infection  |  1
C0020532  |  hypersplenism  |  1
C0023903  |  liver cancer  |  1
C1527249  |  colorectal cancers  |  1
C0009402  |  cancer of the large intestine  |  1
C0004659  |  bacteriuria  |  1
C0007138  |  urothelial carcinoma  |  1
C0022658  |  kidney disease  |  1
C0032987  |  ectopic pregnancy  |  1
C0011991  |  diarrhea  |  1
C0021933  |  intussusception  |  1
C0021359  |  infertility  |  1
C0011991  |  diarrhoea  |  1
C0085293  |  hepatitis e  |  1
C0029001  |  onchocerciasis  |  1
C0699885  |  carcinoma of the urinary bladder  |  1
C0005716  |  blastomycosis  |  1
C0600139  |  prostate carcinoma  |  1
C0037280  |  infestation  |  1
C0005684  |  urinary bladder cancer  |  1
C0016085  |  filariasis  |  1
C1619734  |  pulmonary arterial hypertension  |  1
C0024299  |  lymphoma  |  1
C0014544  |  epilepsy  |  1
C0751498  |  sigmoid cancer  |  1
C0086692  |  benign neoplasm  |  1
C0022661  |  chronic kidney disease  |  1
C1327709  |  rectosigmoid carcinoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
7078  |  TIMP3  |  CTD_human
11186  |  RASSF1  |  CTD_human
5052  |  PRDX1  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:6)
3123  |  HLA-DRB1  |  CIPHER
3127  |  HLA-DRB5  |  CIPHER
6037  |  RNASE3  |  CIPHER
7078  |  TIMP3  |  CTD_human
11186  |  RASSF1  |  CTD_human
5052  |  PRDX1  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:147)
2  |  A2M  |  1.557  |  DISEASES
85320  |  ABCC11  |  1.244  |  DISEASES
94  |  ACVRL1  |  1.805  |  DISEASES
199800  |  ADM5  |  2.794  |  DISEASES
174  |  AFP  |  1.449  |  DISEASES
283  |  ANG  |  1.184  |  DISEASES
316  |  AOX1  |  3.823  |  DISEASES
383  |  ARG1  |  2.936  |  DISEASES
659  |  BMPR2  |  1.403  |  DISEASES
64115  |  C10orf54  |  1.809  |  DISEASES
57010  |  CABP4  |  1.337  |  DISEASES
777  |  CACNA1E  |  2.327  |  DISEASES
785  |  CACNB4  |  1.135  |  DISEASES
801  |  CALM1  |  1.371  |  DISEASES
811  |  CALR  |  1.958  |  DISEASES
912  |  CD1D  |  1.963  |  DISEASES
940  |  CD28  |  2.092  |  DISEASES
958  |  CD40  |  1.664  |  DISEASES
959  |  CD40LG  |  4.502  |  DISEASES
942  |  CD86  |  2.191  |  DISEASES
56882  |  CDC42SE1  |  3.256  |  DISEASES
9425  |  CDYL  |  2.237  |  DISEASES
78989  |  COLEC11  |  1.862  |  DISEASES
1490  |  CTGF  |  1.992  |  DISEASES
1508  |  CTSB  |  3.4  |  DISEASES
1520  |  CTSS  |  1.778  |  DISEASES
1524  |  CX3CR1  |  1.106  |  DISEASES
2919  |  CXCL1  |  1.332  |  DISEASES
9547  |  CXCL14  |  1.093  |  DISEASES
2920  |  CXCL2  |  1.664  |  DISEASES
4283  |  CXCL9  |  1.135  |  DISEASES
2833  |  CXCR3  |  1.448  |  DISEASES
347487  |  CXorf66  |  2.809  |  DISEASES
1528  |  CYB5A  |  2.771  |  DISEASES
1555  |  CYP2B6  |  1.624  |  DISEASES
1650  |  DDOST  |  1.004  |  DISEASES
51428  |  DDX41  |  2.2  |  DISEASES
2009  |  EML1  |  1.426  |  DISEASES
255324  |  EPGN  |  6.522  |  DISEASES
132884  |  EVC2  |  1.435  |  DISEASES
646480  |  FABP9  |  1.092  |  DISEASES
9679  |  FAM53B  |  3.283  |  DISEASES
100302740  |  FAS-AS1  |  1.854  |  DISEASES
64319  |  FBRS  |  3.982  |  DISEASES
50943  |  FOXP3  |  2.764  |  DISEASES
85569  |  GALP  |  1.019  |  DISEASES
728441  |  GGT2  |  1.989  |  DISEASES
29933  |  GPR132  |  2.012  |  DISEASES
23560  |  GTPBP4  |  1.067  |  DISEASES
9563  |  H6PD  |  1.515  |  DISEASES
55869  |  HDAC8  |  2.593  |  DISEASES
3149  |  HMGB3  |  1.574  |  DISEASES
3190  |  HNRNPK  |  1.824  |  DISEASES
3240  |  HP  |  1.032  |  DISEASES
3208  |  HPCA  |  1.262  |  DISEASES
3339  |  HSPG2  |  2.5  |  DISEASES
23308  |  ICOSLG  |  2.03  |  DISEASES
3459  |  IFNGR1  |  1.355  |  DISEASES
7866  |  IFRD2  |  2.154  |  DISEASES
3586  |  IL10  |  4.615  |  DISEASES
3605  |  IL17A  |  2.904  |  DISEASES
90865  |  IL33  |  2.11  |  DISEASES
54617  |  INO80  |  1.534  |  DISEASES
3684  |  ITGAM  |  1.487  |  DISEASES
50618  |  ITSN2  |  4.551  |  DISEASES
5641  |  LGMN  |  3.197  |  DISEASES
10288  |  LILRB2  |  1.775  |  DISEASES
497634  |  LINC00293  |  3.161  |  DISEASES
3996  |  LLGL1  |  1.847  |  DISEASES
28986  |  MAGEH1  |  2.702  |  DISEASES
55201  |  MAP1S  |  1.534  |  DISEASES
4134  |  MAP4  |  1.95  |  DISEASES
4153  |  MBL2  |  1.349  |  DISEASES
4190  |  MDH1  |  2.003  |  DISEASES
4318  |  MMP9  |  1.478  |  DISEASES
116534  |  MRGPRE  |  2.325  |  DISEASES
51734  |  MSRB1  |  1.52  |  DISEASES
22921  |  MSRB2  |  1.459  |  DISEASES
4512  |  MT-CO1  |  3.09  |  DISEASES
4534  |  MTM1  |  1.038  |  DISEASES
4535  |  MT-ND1  |  2.258  |  DISEASES
4538  |  MT-ND4  |  1.308  |  DISEASES
4539  |  MT-ND4L  |  1.263  |  DISEASES
4540  |  MT-ND5  |  1.163  |  DISEASES
4553  |  MT-TA  |  1.464  |  DISEASES
4511  |  MT-TC  |  1.758  |  DISEASES
4558  |  MT-TF  |  1.364  |  DISEASES
4573  |  MT-TR  |  1.596  |  DISEASES
594857  |  NPS  |  1.904  |  DISEASES
93034  |  NT5C1B  |  1.083  |  DISEASES
4521  |  NUDT1  |  1.327  |  DISEASES
56288  |  PARD3  |  1.764  |  DISEASES
80380  |  PDCD1LG2  |  1.49  |  DISEASES
5251  |  PHEX  |  1.371  |  DISEASES
11201  |  POLI  |  2.817  |  DISEASES
5478  |  PPIA  |  2.089  |  DISEASES
5522  |  PPP2R2C  |  1.538  |  DISEASES
5557  |  PRIM1  |  2.048  |  DISEASES
100169750  |  PRINS  |  1.083  |  DISEASES
5831  |  PYCR1  |  1.417  |  DISEASES
54734  |  RAB39A  |  1.473  |  DISEASES
10181  |  RBM5  |  1.135  |  DISEASES
6016  |  RIT1  |  1.177  |  DISEASES
6014  |  RIT2  |  2.058  |  DISEASES
8635  |  RNASET2  |  1.432  |  DISEASES
6129  |  RPL7  |  1.366  |  DISEASES
84816  |  RTN4IP1  |  1.7  |  DISEASES
6280  |  S100A9  |  1.172  |  DISEASES
23513  |  SCRIB  |  1.244  |  DISEASES
6401  |  SELE  |  1.123  |  DISEASES
5271  |  SERPINB8  |  2.398  |  DISEASES
462  |  SERPINC1  |  1.628  |  DISEASES
5345  |  SERPINF2  |  1.22  |  DISEASES
23408  |  SIRT5  |  1.123  |  DISEASES
51547  |  SIRT7  |  1.089  |  DISEASES
1811  |  SLC26A3  |  1.592  |  DISEASES
160728  |  SLC5A8  |  2.68  |  DISEASES
6541  |  SLC7A1  |  1.788  |  DISEASES
4088  |  SMAD3  |  1.349  |  DISEASES
4093  |  SMAD9  |  1.153  |  DISEASES
677825  |  SNORA44  |  1.784  |  DISEASES
6677  |  SPAM1  |  1.691  |  DISEASES
6714  |  SRC  |  1.014  |  DISEASES
6752  |  SSTR2  |  1.331  |  DISEASES
6753  |  SSTR3  |  2.075  |  DISEASES
246744  |  STH  |  3.926  |  DISEASES
6491  |  STIL  |  1.807  |  DISEASES
6863  |  TAC1  |  2.896  |  DISEASES
51347  |  TAOK3  |  1.646  |  DISEASES
7062  |  TCHH  |  2.053  |  DISEASES
26136  |  TES  |  1.073  |  DISEASES
7058  |  THBS2  |  4.145  |  DISEASES
54106  |  TLR9  |  1.375  |  DISEASES
7124  |  TNF  |  3.697  |  DISEASES
8784  |  TNFRSF18  |  1.603  |  DISEASES
7156  |  TOP3A  |  1.123  |  DISEASES
10103  |  TSPAN1  |  2.091  |  DISEASES
10100  |  TSPAN2  |  4.237  |  DISEASES
27229  |  TUBGCP4  |  1.063  |  DISEASES
7295  |  TXN  |  2.879  |  DISEASES
114112  |  TXNRD3  |  6.225  |  DISEASES
7378  |  UPP1  |  1.096  |  DISEASES
8725  |  URI1  |  1.765  |  DISEASES
7419  |  VDAC3  |  1.616  |  DISEASES
7432  |  VIP  |  2.094  |  DISEASES
7433  |  VIPR1  |  1.255  |  DISEASES
53349  |  ZFYVE1  |  1.397  |  DISEASES
Locus(Waiting for update.)
Disease ID 432
Disease schistosomiasis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:50)
HP:0001409  |  Portal hypertension  |  13
HP:0000822  |  Hypertension  |  13
HP:0030731  |  Carcinoma  |  9
HP:0001541  |  Ascites  |  7
HP:0001903  |  Anemia  |  7
HP:0006580  |  Portal fibrosis  |  6
HP:0009725  |  Bladder neoplasm  |  6
HP:0001405  |  Periportal fibrosis  |  6
HP:0001395  |  Hepatic fibrosis  |  4
HP:0012115  |  Liver inflammation  |  4
HP:0001744  |  Splenomegaly  |  4
HP:0002860  |  Squamous cell carcinoma  |  3
HP:0000790  |  Hematuria  |  2
HP:0000716  |  Depression  |  2
HP:0000099  |  Glomerular nephritis  |  2
HP:0001394  |  Hepatic cirrhosis  |  2
HP:0000010  |  Frequent urinary tract infections  |  2
HP:0000096  |  Glomerulosclerosis  |  2
HP:0002092  |  Pulmonary artery hypertension  |  2
HP:0000097  |  focal glomerulosclerosis  |  2
HP:0100518  |  Painful or difficult urination  |  2
HP:0001433  |  Enlarged liver and spleen  |  2
HP:0001880  |  Eosinophilia  |  2
HP:0002576  |  Intussusception  |  1
HP:0002955  |  Granulomatosis  |  1
HP:0006562  |  Viral hepatitis  |  1
HP:0002896  |  Liver cancer  |  1
HP:0009027  |  Foot drop  |  1
HP:0002665  |  Lymphoma  |  1
HP:0001945  |  Fever  |  1
HP:0001873  |  Low platelet count  |  1
HP:0012592  |  Albuminuria  |  1
HP:0000789  |  Infertility  |  1
HP:0100743  |  Rectal tumor  |  1
HP:0100820  |  Glomerulopathy  |  1
HP:0200119  |  Acute liver inflammation  |  1
HP:0002014  |  Diarrhea  |  1
HP:0012622  |  Chronic kidney disease  |  1
HP:0001250  |  Seizures  |  1
HP:0000029  |  Testicular degeneration  |  1
HP:0001397  |  Hepatic steatosis  |  1
HP:0012594  |  High urine albumin levels  |  1
HP:0200123  |  Chronic liver inflammation  |  1
HP:0004395  |  Malnutrition  |  1
HP:0002240  |  Enlarged liver  |  1
HP:0002385  |  Paraparesis  |  1
HP:0001892  |  Bleeding diathesis  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0012461  |  Bacteria in urine  |  1
HP:0001971  |  Hypersplenism  |  1
Disease ID 432
Disease schistosomiasis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:86)
C2707258  |  infections
C2632116  |  stenosis
C2364133  |  infection
C2240374  |  eosinophilia
C2186532  |  liver disease
C1963220  |  pulmonary hypertension
C1963088  |  cystitis
C1963078  |  brachial plexopathy
C1962972  |  proteinuria
C1868851  |  portopulmonary hypertension
C1623038  |  cirrhosis
C1555769  |  pulmonary disease
C1550639  |  fistula
C1546654  |  granuloma
C1402315  |  vascular lesions
C1398810  |  glomerulopathy
C0949022  |  rectal cancer
C0752303  |  urological manifestations
C0748483  |  salmonella bacteraemia
C0748159  |  pulmonary involvement
C0744251  |  gallbladder calcification
C0699885  |  carcinoma of the urinary bladder
C0699885  |  bladder carcinoma
C0699885  |  bladder cancer
C0580174  |  portal hypertensive gastropathy
C0521173  |  granulomatosis
C0341439  |  chronic liver disease
C0334108  |  polyposis
C0302592  |  carcinoma of the uterine cervix
C0279682  |  adenocarcinoma of the urinary bladder
C0279681  |  squamous cell carcinoma of the bladder
C0279681  |  squamous cell carcinoma of bladder
C0275524  |  mixed infection
C0272249  |  polyclonal gammopathy
C0271148  |  secondary open-angle glaucoma
C0239946  |  liver fibrosis
C0239946  |  hepatic fibrosis
C0238122  |  fallopian tube carcinoma
C0238074  |  cor pulmonale
C0238074  |  chronic cor pulmonale
C0235329  |  small bowel obstruction
C0235328  |  colonic obstruction
C0221505  |  cerebral lesion
C0178879  |  obstructive uropathy
C0162316  |  iron deficiency anaemia
C0155789  |  bleeding esophageal varices
C0037997  |  splenic disorders
C0037997  |  splenic disease
C0037928  |  myelopathy
C0037090  |  pulmonary symptoms
C0036329  |  katayama syndrome
C0036117  |  salmonelloses
C0035333  |  retinitis
C0034895  |  rectovaginal fistula
C0034888  |  rectal prolapse
C0034887  |  rectal polyp
C0032568  |  pseudopolyp
C0030354  |  papillomata
C0026848  |  myopathy
C0023903  |  hepatoma
C0023895  |  liver diseases
C0023890  |  liver cirrhosis
C0022661  |  chronic renal failure
C0022660  |  acute renal failure
C0022658  |  renal disease
C0021843  |  intestinal obstruction
C0020541  |  portal hypertension
C0020456  |  hyperglycemia
C0020295  |  hydronephrosis
C0019214  |  hepatosplenomegaly
C0019209  |  hepatomegaly
C0019080  |  hemorrhage
C0017658  |  glomerulonephritis
C0015652  |  fascioliasis
C0014867  |  oesophageal varices
C0014867  |  esophageal varices
C0009402  |  colorectal carcinoma
C0007137  |  squamous cell carcinoma
C0005684  |  bladder cancers
C0004610  |  bacteremia
C0003864  |  arthritis
C0002897  |  splenic anemia
C0002871  |  anaemia
C0002438  |  amebiasis
C0001418  |  adenocarcinoma
C0000727  |  acute abdomen
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:26)
C0009450  |  infection  |  44
C0020541  |  portal hypertension  |  13
C0005684  |  bladder cancer  |  6
C0239946  |  hepatic fibrosis  |  4
C0002871  |  anaemia  |  3
C0007113  |  rectal cancer  |  3
C0239946  |  liver fibrosis  |  3
C0007137  |  squamous cell carcinoma  |  3
C0021311  |  infections  |  2
C0014457  |  eosinophilia  |  2
C0022658  |  renal disease  |  2
C0017658  |  glomerulonephritis  |  2
C0009402  |  colorectal carcinoma  |  2
C0023890  |  cirrhosis  |  2
C0020542  |  pulmonary hypertension  |  2
C1398810  |  glomerulopathy  |  1
C0521173  |  granulomatosis  |  1
C0275524  |  mixed infection  |  1
C0178879  |  obstructive uropathy  |  1
C0019080  |  hemorrhage  |  1
C0023895  |  liver disease  |  1
C0004610  |  bacteremia  |  1
C0019214  |  hepatosplenomegaly  |  1
C0037997  |  splenic disease  |  1
C0014867  |  esophageal varices  |  1
C0018188  |  granuloma  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs188444424912586149233IL23Rumls:C0036323BeFreeA non-synonymous polymorphism in IL-23R Gene (rs1884444) is associated with reduced risk to schistosomiasis-associated Immune Reconstitution Inflammatory Syndrome in a Kenyan population.0.0002714422014IL23R167168129GT
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 432
Disease schistosomiasis
Case(Waiting for update.)