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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   diphtheria
  

Disease ID 911
Disease diphtheria
Definition
A localized infection of mucous membranes or skin caused by toxigenic strains of CORYNEBACTERIUM DIPHTHERIAE. It is characterized by the presence of a pseudomembrane at the site of infection. DIPHTHERIA TOXIN, produced by C. diphtheriae, can cause myocarditis, polyneuritis, and other systemic toxic effects.
Synonym
[x]diphtheria, unspecified
[x]diphtheria, unspecified (disorder)
diphtheria (disorder)
diphtheria [disease/finding]
diphtheria nos
diphtheria nos (disorder)
diphtheria, nos
diphtheria, unspecified
diphtherias
infection caused by corynebacterium diphtheriae
infection caused by corynebacterium diphtheriae (disorder)
infection due to corynebacterium diphtheriae
infection due to corynebacterium diphtheriae (disorder)
Orphanet
DOID
ICD10
UMLS
C0012546
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:17)
C0006017  |  pertussis  |  6
C0039614  |  tetanus  |  2
C0003175  |  anthrax  |  1
C0025202  |  melanoma  |  1
C0008354  |  cholera  |  1
C0018801  |  cardiac failure  |  1
C0041296  |  tuberculosis  |  1
C0027059  |  myocarditis  |  1
C0031350  |  pharyngitis  |  1
C0002395  |  alzheimer's disease  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0018078  |  gonococcal urethritis  |  1
C0278883  |  metastatic melanoma  |  1
C0376545  |  hematologic malignancies  |  1
C0014544  |  epilepsy  |  1
C0041976  |  urethritis  |  1
C0409974  |  lupus erythematosus  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:139)
60  |  ACTB  |  1.363  |  DISEASES
55811  |  ADCY10  |  1.518  |  DISEASES
141  |  ADPRH  |  2.616  |  DISEASES
54936  |  ADPRHL2  |  2.59  |  DISEASES
204  |  AK2  |  1.096  |  DISEASES
10189  |  ALYREF  |  1.71  |  DISEASES
10218  |  ANGPTL7  |  1.281  |  DISEASES
9179  |  AP4M1  |  1.236  |  DISEASES
340075  |  ARSI  |  1.234  |  DISEASES
419  |  ART3  |  1.723  |  DISEASES
8705  |  B3GALT4  |  1.575  |  DISEASES
55814  |  BDP1  |  2.168  |  DISEASES
79866  |  BORA  |  1.312  |  DISEASES
801  |  CALM1  |  2.022  |  DISEASES
930  |  CD19  |  2.635  |  DISEASES
50489  |  CD207  |  4.107  |  DISEASES
29126  |  CD274  |  1.166  |  DISEASES
917  |  CD3G  |  1.641  |  DISEASES
958  |  CD40  |  1.786  |  DISEASES
959  |  CD40LG  |  3.772  |  DISEASES
921  |  CD5  |  1.854  |  DISEASES
942  |  CD86  |  1.915  |  DISEASES
1041  |  CDSN  |  1.098  |  DISEASES
9793  |  CKAP5  |  1.126  |  DISEASES
170482  |  CLEC4C  |  1.882  |  DISEASES
1268  |  CNR1  |  1.229  |  DISEASES
1270  |  CNTF  |  1.545  |  DISEASES
1438  |  CSF2RA  |  2.615  |  DISEASES
1460  |  CSNK2B  |  1.158  |  DISEASES
1465  |  CSRP1  |  1.756  |  DISEASES
1524  |  CX3CR1  |  1.384  |  DISEASES
51428  |  DDX41  |  2.693  |  DISEASES
1719  |  DHFR  |  1.248  |  DISEASES
10202  |  DHRS2  |  1.503  |  DISEASES
29103  |  DNAJC15  |  1.374  |  DISEASES
120526  |  DNAJC24  |  4.012  |  DISEASES
30836  |  DNTTIP2  |  1.682  |  DISEASES
285381  |  DPH3  |  5.05  |  DISEASES
51611  |  DPH5  |  5.595  |  DISEASES
1805  |  DPT  |  7.113  |  DISEASES
1847  |  DUSP5  |  1.467  |  DISEASES
1915  |  EEF1A1  |  2.378  |  DISEASES
55250  |  ELP2  |  1.712  |  DISEASES
23587  |  ELP5  |  2.149  |  DISEASES
2029  |  ENSA  |  1.071  |  DISEASES
2060  |  EPS15  |  1.792  |  DISEASES
2066  |  ERBB4  |  1.189  |  DISEASES
2214  |  FCGR3A  |  1.735  |  DISEASES
2246  |  FGF1  |  2.681  |  DISEASES
2257  |  FGF12  |  1.296  |  DISEASES
2323  |  FLT3LG  |  1.612  |  DISEASES
2297  |  FOXD1  |  2.334  |  DISEASES
2300  |  FOXL1  |  2.031  |  DISEASES
50943  |  FOXP3  |  3.945  |  DISEASES
2641  |  GCG  |  1.538  |  DISEASES
2642  |  GCGR  |  1.652  |  DISEASES
2770  |  GNAI1  |  1.631  |  DISEASES
2773  |  GNAI3  |  1.295  |  DISEASES
7918  |  GPANK1  |  1.684  |  DISEASES
23560  |  GTPBP4  |  1.198  |  DISEASES
3033  |  HADH  |  1.162  |  DISEASES
3010  |  HIST1H1T  |  1.955  |  DISEASES
8349  |  HIST2H2BE  |  1.581  |  DISEASES
3329  |  HSPD1  |  1.082  |  DISEASES
3481  |  IGF2  |  1.535  |  DISEASES
3586  |  IL10  |  2.133  |  DISEASES
3605  |  IL17A  |  1.351  |  DISEASES
3559  |  IL2RA  |  3.37  |  DISEASES
3561  |  IL2RG  |  1.809  |  DISEASES
51477  |  ISYNA1  |  1.548  |  DISEASES
3684  |  ITGAM  |  3.724  |  DISEASES
3949  |  LDLR  |  1.279  |  DISEASES
497634  |  LINC00293  |  2.99  |  DISEASES
25802  |  LMOD1  |  2.702  |  DISEASES
4010  |  LMX1B  |  1.72  |  DISEASES
388695  |  LYSMD1  |  3.324  |  DISEASES
23542  |  MAPK8IP2  |  1.527  |  DISEASES
83742  |  MARVELD1  |  1.004  |  DISEASES
4151  |  MB  |  1.067  |  DISEASES
10232  |  MSLN  |  1.123  |  DISEASES
83463  |  MXD3  |  1.52  |  DISEASES
4625  |  MYH7  |  1.691  |  DISEASES
23218  |  NBEAL2  |  1.314  |  DISEASES
4803  |  NGF  |  1.8  |  DISEASES
7827  |  NPHS2  |  1.046  |  DISEASES
4901  |  NRL  |  1.272  |  DISEASES
4975  |  OMP  |  1.27  |  DISEASES
5034  |  P4HB  |  3.865  |  DISEASES
135138  |  PACRG  |  1.898  |  DISEASES
142  |  PARP1  |  4.948  |  DISEASES
84875  |  PARP10  |  3.5  |  DISEASES
54625  |  PARP14  |  3.199  |  DISEASES
165631  |  PARP15  |  3.989  |  DISEASES
10039  |  PARP3  |  1.28  |  DISEASES
83666  |  PARP9  |  1.536  |  DISEASES
5077  |  PAX3  |  1.026  |  DISEASES
5081  |  PAX7  |  1.434  |  DISEASES
553115  |  PEF1  |  1.64  |  DISEASES
162466  |  PHOSPHO1  |  2.082  |  DISEASES
23760  |  PITPNB  |  1.948  |  DISEASES
5328  |  PLAU  |  1.508  |  DISEASES
5329  |  PLAUR  |  2.22  |  DISEASES
56980  |  PRDM10  |  1.521  |  DISEASES
8559  |  PRPF18  |  2.308  |  DISEASES
51334  |  PRR16  |  1.758  |  DISEASES
7916  |  PRRC2A  |  1.905  |  DISEASES
57716  |  PRX  |  1.03  |  DISEASES
5788  |  PTPRC  |  1.815  |  DISEASES
6204  |  RPS10  |  1.501  |  DISEASES
677768  |  SCARNA13  |  2.335  |  DISEASES
404552  |  SCGB1D4  |  1.194  |  DISEASES
23451  |  SF3B1  |  1.328  |  DISEASES
6461  |  SHB  |  1.886  |  DISEASES
6464  |  SHC1  |  1.246  |  DISEASES
6614  |  SIGLEC1  |  1.49  |  DISEASES
51548  |  SIRT6  |  1.389  |  DISEASES
55315  |  SLC29A3  |  4.302  |  DISEASES
340146  |  SLC35D3  |  2.623  |  DISEASES
6545  |  SLC7A4  |  1.359  |  DISEASES
26793  |  SNORD56  |  2.138  |  DISEASES
692199  |  SNORD84  |  2.36  |  DISEASES
6714  |  SRC  |  1.289  |  DISEASES
8869  |  ST3GAL5  |  1.148  |  DISEASES
25870  |  SUMF2  |  2.574  |  DISEASES
6892  |  TAPBP  |  1.814  |  DISEASES
26136  |  TES  |  2.552  |  DISEASES
7018  |  TF  |  3.378  |  DISEASES
7037  |  TFRC  |  2.376  |  DISEASES
7124  |  TNF  |  2.427  |  DISEASES
10673  |  TNFSF13B  |  1.318  |  DISEASES
80351  |  TNKS2  |  2.341  |  DISEASES
7138  |  TNNT1  |  1.366  |  DISEASES
9760  |  TOX  |  5.661  |  DISEASES
8725  |  URI1  |  1.683  |  DISEASES
81605  |  URM1  |  2.696  |  DISEASES
23038  |  WDTC1  |  6.085  |  DISEASES
100287226  |  ZNF729  |  3.557  |  DISEASES
7784  |  ZP3  |  4.006  |  DISEASES
57829  |  ZP4  |  3.24  |  DISEASES
Locus(Waiting for update.)
Disease ID 911
Disease diphtheria
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
HP:0001945  |  Fever  |  1
HP:0003470  |  Inability to move  |  1
HP:0012735  |  Coughing  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0002861  |  Melanoma  |  1
HP:0012819  |  Myocarditis  |  1
HP:0001635  |  Congestive heart failure  |  1
Disease ID 911
Disease diphtheria
Manually Symptom
UMLS  | Name(Total Manually Symptoms:30)
C2598155  |  pain
C2215935  |  complete heart block
C1963234  |  serum sickness
C1963101  |  encephalopathy
C1962971  |  myocarditis
C1839611  |  n syndrome
C1611280  |  allergy
C1393529  |  vascular complications
C1318484  |  chimera
C0878544  |  myocardial disease
C0752303  |  urological manifestations
C0747422  |  penicillin sensitivity
C0740852  |  upper airway obstruction
C0549124  |  arterial embolism
C0427543  |  monocytosis
C0264306  |  laryngeal obstruction
C0262471  |  ent problem
C0037285  |  skin manifestations
C0032285  |  pneumonia
C0031157  |  peritonsillar abscess
C0027813  |  neuritis
C0022116  |  ischemia
C0019087  |  hemorrhagic disorders
C0019087  |  haemorrhagic diathesis
C0018991  |  hemiplegia
C0017979  |  glycosuria
C0014742  |  erythema multiforme
C0014038  |  encephalitis
C0007222  |  cardiovascular disorders
C0001396  |  morgagni-adams-stokes syndrome
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0008109  |  chimera  |  1
C0027059  |  myocarditis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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 911
Disease diphtheria
Case(Waiting for update.)