eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lyme disease | ||||
| Disease ID | 539 |
|---|---|
| Disease | lyme disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:93) C2711548 | infectious process C2707258 | infections C2598155 | pain C2364324 | increased intracranial pressure C2364133 | infection C2350476 | orbital myositis C2240374 | eosinophilia C2215935 | complete heart block C2108077 | atrioventricular block C1963101 | encephalopathy C1963066 | joint pain C1518296 | neuropathogenesis C1504541 | cerebellitis C1333272 | demyelinating encephalopathy C1288283 | anetoderma C1253937 | pericardial effusion C1142028 | peripheral nerve palsy C0948807 | hepatic impairment C0948264 | neuroborreliosis C0869523 | carditis C0752303 | urological manifestations C0752303 | urological manifestation C0752252 | neuromuscular manifestations C0679466 | cognitive deficits C0522224 | palsy C0497552 | nervous system abnormalities C0497327 | dementia C0442874 | neuropathy C0422833 | ent symptoms C0271051 | macular edema C0270886 | polyneuritis cranialis C0264886 | conduction disorders C0263776 | coxitis C0240111 | arthritis of the knee C0235946 | cerebral atrophy C0235369 | granulomatous hepatitis C0235031 | neurological symptoms C0231443 | musculoskeletal symptoms C0206586 | endolymphatic hydrops C0155686 | acute myocarditis C0151517 | complete av block C0151317 | chronic infection C0151295 | mononeuritis multiplex C0040188 | tic disorders C0038525 | subarachnoid hemorrhage C0038454 | stroke C0037771 | spastic paraparesis C0037285 | skin manifestations C0037285 | skin manifestation C0037284 | skin lesions C0037284 | skin lesion C0035222 | adult respiratory distress syndrome C0034544 | radiculitis C0034152 | schoenlein-henoch purpura C0033845 | pseudotumour cerebri C0033845 | pseudotumor cerebri syndrome C0033845 | pseudotumor cerebri C0032587 | polyradiculoneuropathy C0032586 | polyradiculopathy C0031117 | peripheral neuropathies C0030326 | panniculitis C0030312 | pancytopenia C0029134 | optic neuritis C0028866 | oculomotor nerve paralysis C0026976 | transverse myelitis C0025309 | meningoencephalitis C0024236 | lymphoedema C0024205 | lymphadenitis C0022568 | keratitis C0019158 | hepatitis C0018799 | heart disorders C0018794 | heart block C0018784 | sensorineural hearing loss C0018524 | hallucinations C0017677 | erythema migrans C0015469 | facial paralysis C0015469 | facial palsy C0015469 | facial nerve palsy C0015458 | progressive hemifacial atrophy C0015411 | eye findings C0015397 | eye disorders C0015230 | rash C0015230 | exanthem C0014740 | erythema chronicum migrans C0014070 | encephalomyelitis C0011633 | dermatomyositis C0011168 | deglutition disorders C0007684 | cns infection C0006123 | branch retinal artery occlusion C0004936 | mental disorders C0004245 | atrioventricular heart block C0003873 | r arthritis C0003864 | arthritis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:26) C0009450 | infection | 19 C0017677 | erythema migrans | 12 C0422833 | ent symptoms | 9 C0522224 | palsy | 4 C0015230 | rash | 4 C0948264 | neuroborreliosis | 4 C0003864 | arthritis | 3 C0018784 | sensorineural hearing loss | 3 C0030312 | pancytopenia | 2 C0003862 | joint pain | 2 C0015464 | facial nerve palsy | 2 C0030193 | pain | 2 C0021311 | infections | 2 C0869523 | carditis | 2 C0015469 | facial paralysis | 2 C0752303 | urological manifestations | 1 C0752303 | urological manifestation | 1 C0015464 | facial palsy | 1 C0085584 | encephalopathy | 1 C0038454 | stroke | 1 C0235031 | neurological symptoms | 1 C0026976 | transverse myelitis | 1 C2350476 | orbital myositis | 1 C0007193 | dilated cardiomyopathy | 1 C0019158 | hepatitis | 1 C0155686 | acute myocarditis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs5743618 | 25784560 | 7096 | TLR1 | umls:C0024198 | BeFree | The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study. | 0.005905708 | 2015 | TLR1 | 4 | 38797027 | C | A |
| rs5743618 | 25784560 | 7097 | TLR2 | umls:C0024198 | BeFree | The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study. | 0.009987267 | 2015 | TLR1 | 4 | 38797027 | C | A |
| rs5743708 | 25784560 | 7097 | TLR2 | umls:C0024198 | BeFree | The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study. | 0.009987267 | 2015 | TLR2 | 4 | 153705165 | G | A |
| rs5743708 | 16081826 | 7096 | TLR1 | umls:C0024198 | BeFree | These data suggest that Arg753Gln may protect from the development of late stage LD due to a reduced signaling via TLR-2/TLR-1. | 0.005905708 | 2005 | TLR2 | 4 | 153705165 | G | A |
| rs5743708 | 25784560 | 7096 | TLR1 | umls:C0024198 | BeFree | The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study. | 0.005905708 | 2015 | TLR2 | 4 | 153705165 | G | A |
| rs5743708 | 16081826 | 7097 | TLR2 | umls:C0024198 | BeFree | Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease. | 0.009987267 | 2005 | TLR2 | 4 | 153705165 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001678 | Atrioventricular block | MP:0010520 | sinoatrial block | a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| 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 |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003401 | Paresthesia | 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:0001287 | Meningitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100576 | Amaurosis fugax | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| 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: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:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001678 | Atrioventricular block | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100785 | Insomnia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0200036 | Skin nodule | MP:0013601 | increased testis apoptosis | increase in the number of cells of the male reproductive glands undergoing programmed cell death |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 539 |
|---|---|
| Disease | lyme disease |
| Case | (Waiting for update.) |