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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   pneumocystosis
  

Disease ID 720
Disease pneumocystosis
Definition
pulmonary disease in humans occurring in immunodeficient or malnourished patients or infants, characterized by dyspnea, tachypnea, and hypoxemia; Pneumocystis pneumonia is a frequent opportunistic infection in AIDS; also found in other mammals where it is caused by related species of Pneumocystis.
Synonym
interstitial plasma cell pneumonia
pcp - pneumocystis carinii pneumonia
pcp - pneumocystis pneumonia
pjp
pneumocystis carinii pneumonia
pneumocystis carinii pneumonia (disorder)
pneumocystis carinii pneumonia (pcp)
pneumocystis jiroveci pneumonia
pneumocystis jirovecii pneumonia
pneumocystis pneumonia
pneumocystis pneumonias
pneumocystoses
pneumocystosis (disorder)
pneumocystosis jiroveci pneumonia
pneumocystosis jiroveci pneumonia (disorder)
pneumocystosis jirovecii pneumonia
pneumocystosis jirovecii pneumonia (disorder)
pneumocystosis pneumonia
pneumocytosis
pneumonia due to pneumocystis carinii
pneumonia, interstitial plasma cell
pneumonia, pneumocystis
pneumonia, pneumocystis [disease/finding]
pneumonia, pneumocystis carinii
pneumonias, pneumocystis
pneumonias, pneumocystis carinii
pulmonary pneumocystosis
pulmonary pneumocystosis (disorder)
Orphanet
DOID
ICD10
UMLS
C1535939
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:51)
C0032305  |  pneumocystis carinii pneumonia  |  10
C0003873  |  rheumatoid arthritis  |  9
C0032305  |  pneumocystis  |  9
C1145670  |  respiratory failure  |  8
C0003864  |  arthritis  |  7
C0024299  |  lymphoma  |  6
C0024141  |  systemic lupus erythematosus  |  3
C0019829  |  hodgkin lymphoma  |  3
C0001175  |  acquired immunodeficiency syndrome  |  3
C0021390  |  inflammatory bowel disease  |  3
C0001175  |  acquired immunodeficiency syndrome (aids)  |  2
C0409974  |  lupus erythematosus  |  2
C0024312  |  lymphopenia  |  2
C0010346  |  crohn's disease  |  2
C0042769  |  virus infection  |  2
C0079744  |  diffuse large b-cell lymphoma  |  2
C0041296  |  tuberculosis  |  2
C0079731  |  b-cell lymphoma  |  2
C0019829  |  hodgkin's lymphoma  |  2
C0001175  |  acquired immune deficiency syndrome  |  2
C0001175  |  acquired immune deficiency  |  2
C0039483  |  giant cell arteritis  |  2
C0024305  |  non-hodgkin's lymphoma  |  2
C0021831  |  bowel disease  |  2
C0024305  |  non-hodgkin lymphoma  |  2
C0021053  |  immune disease  |  2
C0032285  |  pneumonia  |  2
C0017920  |  glucose-6-phosphate dehydrogenase deficiency  |  1
C0009319  |  colitis  |  1
C0009782  |  connective tissue disease  |  1
C0079731  |  b-cell non-hodgkin lymphoma  |  1
C0024314  |  lymphoproliferative disorders  |  1
C0018203  |  chronic granulomatous disease  |  1
C0024314  |  lymphoproliferative disorder  |  1
C0024115  |  lung disease  |  1
C0032326  |  pneumothorax  |  1
C0021400  |  influenza  |  1
C0041327  |  pulmonary tuberculosis  |  1
C0206062  |  interstitial lung disease  |  1
C0022661  |  end-stage renal disease  |  1
C0020538  |  hypertension  |  1
C0376545  |  hematological malignancies  |  1
C0009782  |  connective tissue diseases  |  1
C0042373  |  vascular disease  |  1
C0206186  |  hairy leukoplakia  |  1
C0007222  |  cardiovascular disease  |  1
C0242379  |  lung cancer  |  1
C0009324  |  ulcerative colitis  |  1
C0017658  |  glomerulonephritis  |  1
C0023493  |  adult t-cell lymphoma  |  1
C0022658  |  renal disease  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:80)
26027  |  ACOT11  |  2.014  |  DISEASES
55  |  ACPP  |  1.137  |  DISEASES
257  |  ALX3  |  1.075  |  DISEASES
60489  |  APOBEC3G  |  1.261  |  DISEASES
567  |  B2M  |  2.327  |  DISEASES
801  |  CALM1  |  1.656  |  DISEASES
23066  |  CAND2  |  1.477  |  DISEASES
84433  |  CARD11  |  2.1  |  DISEASES
64170  |  CARD9  |  2.283  |  DISEASES
388372  |  CCL4L1  |  1.183  |  DISEASES
9560  |  CCL4L2  |  1.038  |  DISEASES
1232  |  CCR3  |  1.355  |  DISEASES
1237  |  CCR8  |  1.233  |  DISEASES
9034  |  CCRL2  |  2.263  |  DISEASES
930  |  CD19  |  2.082  |  DISEASES
958  |  CD40  |  1.527  |  DISEASES
959  |  CD40LG  |  3.837  |  DISEASES
1043  |  CD52  |  1.912  |  DISEASES
1201  |  CLN3  |  1.293  |  DISEASES
1368  |  CPM  |  1.925  |  DISEASES
1378  |  CR1  |  1.337  |  DISEASES
1524  |  CX3CR1  |  1.286  |  DISEASES
2919  |  CXCL1  |  1.118  |  DISEASES
85443  |  DCLK3  |  1.87  |  DISEASES
1638  |  DCT  |  1.36  |  DISEASES
1719  |  DHFR  |  3.91  |  DISEASES
10938  |  EHD1  |  1.057  |  DISEASES
1993  |  ELAVL2  |  1.38  |  DISEASES
3266  |  ERAS  |  2.681  |  DISEASES
2314  |  FLII  |  1.234  |  DISEASES
2318  |  FLNC  |  3.597  |  DISEASES
2689  |  GH2  |  1.431  |  DISEASES
200504  |  GKN2  |  1.02  |  DISEASES
160897  |  GPR180  |  1.587  |  DISEASES
2938  |  GSTA1  |  1.03  |  DISEASES
2993  |  GYPA  |  3.145  |  DISEASES
3239  |  HOXD13  |  1.053  |  DISEASES
3586  |  IL10  |  2.102  |  DISEASES
3628  |  INPP1  |  2.754  |  DISEASES
3633  |  INPP5B  |  2.102  |  DISEASES
253430  |  IPMK  |  2.22  |  DISEASES
51477  |  ISYNA1  |  2.43  |  DISEASES
3684  |  ITGAM  |  1.273  |  DISEASES
3712  |  IVD  |  2.074  |  DISEASES
9682  |  KDM4A  |  1.03  |  DISEASES
3803  |  KIR2DL2  |  1.137  |  DISEASES
9516  |  LITAF  |  1.51  |  DISEASES
3996  |  LLGL1  |  1.099  |  DISEASES
987  |  LRBA  |  1.253  |  DISEASES
7975  |  MAFK  |  1.919  |  DISEASES
4519  |  MT-CYB  |  3.951  |  DISEASES
4535  |  MT-ND1  |  1.143  |  DISEASES
4582  |  MUC1  |  3.348  |  DISEASES
4668  |  NAGA  |  1.506  |  DISEASES
246734  |  NPCDR1  |  2.432  |  DISEASES
8131  |  NPRL3  |  1.658  |  DISEASES
2649  |  NR6A1  |  2.428  |  DISEASES
4521  |  NUDT1  |  1.169  |  DISEASES
93377  |  OPALIN  |  3.813  |  DISEASES
9124  |  PDLIM1  |  1.009  |  DISEASES
5238  |  PGM3  |  1.617  |  DISEASES
5570  |  PKIB  |  2.748  |  DISEASES
139728  |  PNCK  |  1.247  |  DISEASES
10622  |  POLR3G  |  2.751  |  DISEASES
29968  |  PSAT1  |  1.346  |  DISEASES
114971  |  PTPMT1  |  2.55  |  DISEASES
91543  |  RSAD2  |  1.783  |  DISEASES
6441  |  SFTPD  |  3.66  |  DISEASES
113235  |  SLC46A1  |  2.54  |  DISEASES
6865  |  TACR2  |  1.338  |  DISEASES
55773  |  TBC1D23  |  3.404  |  DISEASES
117145  |  THEM4  |  1.373  |  DISEASES
7124  |  TNF  |  3.298  |  DISEASES
7133  |  TNFRSF1B  |  2.595  |  DISEASES
80351  |  TNKS2  |  1.705  |  DISEASES
7257  |  TSNAX  |  2.249  |  DISEASES
6675  |  UAP1  |  2.27  |  DISEASES
9094  |  UNC119  |  2.534  |  DISEASES
6375  |  XCL1  |  1.143  |  DISEASES
84671  |  ZNF347  |  2.579  |  DISEASES
Locus(Waiting for update.)
Disease ID 720
Disease pneumocystosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:25)
HP:0002878  |  Respiratory failure  |  9
HP:0002721  |  Immunodeficiency  |  9
HP:0001370  |  Rheumatoid arthritis  |  9
HP:0001369  |  Arthritis  |  7
HP:0002665  |  Lymphoma  |  6
HP:0012189  |  Hodgkin disease  |  5
HP:0002725  |  Systemic lupus erythematosus  |  3
HP:0100806  |  Sepsis  |  2
HP:0012191  |  B-cell lymphoma  |  2
HP:0012539  |  Non-Hodgkin lymphoma  |  2
HP:0002960  |  Autoimmune condition  |  2
HP:0002090  |  Pneumonia  |  2
HP:0100280  |  Morbus Crohn  |  2
HP:0002107  |  Collapsed lung  |  1
HP:0001888  |  Lymphocytopenia  |  1
HP:0005517  |  T-cell lymphoma/leukemia  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0000822  |  Hypertension  |  1
HP:0002583  |  Colitis  |  1
HP:0005523  |  Lymphoproliferative disorder  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0012190  |  T cell lymphoma  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0006530  |  Interstitial lung disease  |  1
HP:0005387  |  Combined immunodeficiency  |  1
Disease ID 720
Disease pneumocystosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C2711548  |  infectious process
C0024291  |  hemophagocytic syndrome
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0264490  |  acute respiratory failure  |  2
C0029118  |  opportunistic infections  |  1
C0009450  |  infection  |  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
rs3204849220461409034CCRL2umls:C1535939BeFreeRole of exonic variation in chemokine receptor genes on AIDS: CCRL2 F167Y association with pneumocystis pneumonia.0.0002714422011CCRL2;LOC102724297346408579TA
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 720
Disease pneumocystosis
Case(Waiting for update.)