eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| legionellosis | ||||
| Disease ID | 1070 |
|---|---|
| Disease | legionellosis |
| Definition | Infections with bacteria of the genus LEGIONELLA. |
| Synonym | legionella infection legionella infection (disorder) legionella infection, nos legionelloses legionellosis [disease/finding] legionellosis, nos |
| Orphanet | |
| DOID | |
| UMLS | C0023240 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:67) 101 | ADAM8 | 1.179 | DISEASES 287 | ANK2 | 2.841 | DISEASES 126549 | ANKLE1 | 2.87 | DISEASES 1822 | ATN1 | 1.33 | DISEASES 834 | CASP1 | 3.681 | DISEASES 840 | CASP7 | 1.818 | DISEASES 57091 | CASS4 | 2.434 | DISEASES 959 | CD40LG | 4.223 | DISEASES 27159 | CHIA | 1.709 | DISEASES 1314 | COPA | 2.129 | DISEASES 1378 | CR1 | 1.349 | DISEASES 1431 | CS | 1.446 | DISEASES 23586 | DDX58 | 2.671 | DISEASES 1915 | EEF1A1 | 3.291 | DISEASES 2280 | FKBP1A | 3.058 | DISEASES 642489 | FKBP1C | 3.154 | DISEASES 8729 | GBF1 | 4.283 | DISEASES 23464 | GCAT | 2.44 | DISEASES 2813 | GP2 | 1.405 | DISEASES 9290 | GPR55 | 1.835 | DISEASES 57000 | GSN-AS1 | 2.282 | DISEASES 9464 | HAND2 | 1.069 | DISEASES 10767 | HBS1L | 2.807 | DISEASES 5654 | HTRA1 | 1.244 | DISEASES 23463 | ICMT | 3.933 | DISEASES 80333 | KCNIP4 | 2.493 | DISEASES 3916 | LAMP1 | 2.243 | DISEASES 3920 | LAMP2 | 1.005 | DISEASES 3996 | LLGL1 | 1.457 | DISEASES 4151 | MB | 1.006 | DISEASES 79104 | MEG8 | 1.234 | DISEASES 4615 | MYD88 | 2.663 | DISEASES 4671 | NAIP | 2.352 | DISEASES 9 | NAT1 | 1.579 | DISEASES 58484 | NLRC4 | 4.764 | DISEASES 3164 | NR4A1 | 1.9 | DISEASES 4905 | NSF | 1.425 | DISEASES 4952 | OCRL | 1.397 | DISEASES 5053 | PAH | 2.024 | DISEASES 10611 | PDLIM5 | 1.606 | DISEASES 11331 | PHB2 | 1.536 | DISEASES 9373 | PLAA | 2.476 | DISEASES 9588 | PRDX6 | 1.443 | DISEASES 5578 | PRKCA | 1.324 | DISEASES 51552 | RAB14 | 2.847 | DISEASES 5901 | RAN | 3.233 | DISEASES 5902 | RANBP1 | 3.395 | DISEASES 1104 | RCC1 | 1.856 | DISEASES 6005 | RHAG | 1.234 | DISEASES 80196 | RNF34 | 2.088 | DISEASES 6181 | RPLP2 | 3.511 | DISEASES 6400 | SEL1L | 2.115 | DISEASES 6406 | SEMG1 | 2.634 | DISEASES 12 | SERPINA3 | 1.37 | DISEASES 6510 | SLC1A5 | 1.367 | DISEASES 25870 | SUMF2 | 4.413 | DISEASES 7037 | TFRC | 1.543 | DISEASES 93643 | TJAP1 | 3.348 | DISEASES 7096 | TLR1 | 1.004 | DISEASES 7099 | TLR4 | 2.222 | DISEASES 7100 | TLR5 | 3.124 | DISEASES 10333 | TLR6 | 1.426 | DISEASES 54106 | TLR9 | 1.161 | DISEASES 7124 | TNF | 1.914 | DISEASES 51592 | TRIM33 | 1.825 | DISEASES 51699 | VPS29 | 2.726 | DISEASES 7453 | WARS | 1.16 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1070 |
|---|---|
| Disease | legionellosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:42) HP:0012378 | Fatigue HP:0001733 | Pancreatitis HP:0100584 | Endocarditis HP:0002027 | Abdominal pain HP:0100806 | Sepsis HP:0002383 | Encephalitis HP:0000093 | Proteinuria HP:0000083 | Renal insufficiency HP:0002829 | Arthralgia HP:0002716 | Lymphadenopathy HP:0002091 | Restrictive lung disease HP:0003326 | Myalgia HP:0001251 | Ataxia HP:0005528 | Bone marrow hypocellularity HP:0002014 | Diarrhea HP:0002902 | Hyponatremia HP:0009830 | Peripheral neuropathy HP:0002113 | Pulmonary infiltrates HP:0002615 | Hypotension HP:0002017 | Nausea and vomiting HP:0001888 | Lymphopenia HP:0004372 | Reduced consciousness/confusion HP:0100776 | Recurrent pharyngitis HP:0000790 | Hematuria HP:0000952 | Jaundice HP:0002105 | Hemoptysis HP:0002088 | Abnormality of lung morphology HP:0002093 | Respiratory insufficiency HP:0011675 | Arrhythmia HP:0001945 | Fever HP:0012819 | Myocarditis HP:0002076 | Migraine HP:0012735 | Cough HP:0002103 | Abnormality of the pleura HP:0001701 | Pericarditis HP:0001744 | Splenomegaly HP:0100658 | Cellulitis HP:0001324 | Muscle weakness HP:0100749 | Chest pain HP:0000738 | Hallucinations HP:0012115 | Hepatitis HP:0002039 | Anorexia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002090 | Pneumonia | 4 HP:0002835 | Aspiration | 1 HP:0002902 | Hyponatremia | 1 HP:0002664 | Neoplasia | 1 |
| Disease ID | 1070 |
|---|---|
| Disease | legionellosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002103 | Abnormality of the pleura | MP:0008151 | increased diameter of long bones | increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0002091 | Restrictive lung disease | MP:0008714 | increased lung carcinoma incidence | greater than the expected number of a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0005528 | Bone marrow hypocellularity | MP:0013414 | decreased myeloid cell number in bone marrow | reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow |
Mapped by homologous gene(Total Items:39) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004372 | Reduced consciousness/confusion | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0002103 | Abnormality of the pleura | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001701 | Pericarditis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002105 | Hemoptysis | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0002383 | Encephalitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0100658 | Cellulitis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001888 | Lymphopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000738 | Hallucinations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0100776 | Recurrent pharyngitis | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0012115 | Hepatitis | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| HP:0005528 | Bone marrow hypocellularity | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0002091 | Restrictive lung disease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1070 |
|---|---|
| Disease | legionellosis |
| Case | (Waiting for update.) |