eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| amyloidosis | ||||
| Disease ID | 59 |
|---|---|
| Disease | amyloidosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:104) C2697391 | rheumatoid arthritis C2678504 | osteoporosis C2363906 | splenic calcification C2203646 | jaundice C2039684 | systemic symptoms C2013823 | orbital hemorrhage C1963220 | pulmonary hypertension C1963154 | renal failure C1963091 | diarrhea C1963079 | restrictive cardiomyopathy C1962972 | proteinuria C1955743 | mineralocorticoid deficiency C1565489 | renal insufficiency C1414497 | factor x deficiency C1393529 | vascular complications C1258215 | ileus C1168271 | pericardial hematoma C1145670 | respiratory failure C0936248 | chondroma C0878544 | myocardiopathy C0752252 | neuromuscular manifestations C0748164 | multiple pulmonary nodules C0699791 | gastric carcinoma C0678202 | regional enteritis C0520743 | mediastinal lymphadenopathy C0520679 | obstructive sleep apnea C0497156 | lymphadenopathy C0442874 | neuropathy C0442838 | bilateral hilar adenopathy C0422833 | ent symptoms C0409974 | lupus erythematosus C0393911 | autonomic failure C0376185 | hyporeninemic hypoaldosteronism C0346255 | renal oncocytoma C0341697 | renal impairment C0334044 | dyscrasia C0272404 | hyposplenism C0271750 | adrenal calcification C0271682 | sensorimotor polyneuropathy C0267842 | acute acalculous cholecystitis C0267373 | intestinal hemorrhage C0267373 | intestinal bleeding C0259749 | autonomic neuropathy C0238457 | renal vein thrombosis C0238239 | light chain deposition disease C0231656 | shoulder-pad sign C0221239 | rapidly progressive glomerulonephritis C0221165 | diplegia C0151467 | acute adrenal insufficiency C0149893 | secondary glaucoma C0086981 | sicca syndrome C0041948 | uraemia C0039483 | giant cell arteritis C0037998 | splenic infarction C0037315 | sleep apnea C0037284 | skin lesions C0036690 | septicaemia C0035078 | kidney failure C0034150 | purpura C0033860 | psoriasis C0031154 | peritonitis C0030489 | paraproteinemias C0030421 | paraganglioma C0029166 | oral manifestation C0027726 | nephrotic syndrome C0027719 | nephrosclerosis C0026848 | myopathy C0026764 | myeloma C0026764 | multiple myeloma C0024523 | malabsorption syndrome C0024419 | macroglobulinemia C0023895 | liver disorder C0023788 | whipple's disease C0022661 | end-stage renal failure C0022661 | end-stage renal disease C0022661 | chronic renal failure C0022658 | nephropathy C0022354 | obstructive jaundice C0022116 | ischemia C0021847 | intestinal pseudo-obstruction C0021845 | intestinal perforations C0021071 | alpha chain disease C0020649 | hypotension C0020639 | hypoproteinemia C0020619 | hypogonadism C0020541 | portal hypertension C0019829 | hodgkin's disease C0019209 | hepatomegaly C0019080 | hemorrhage C0018801 | heart insufficiency C0018801 | heart failure C0018801 | cardiac failure C0017178 | gastrointestinal diseases C0014863 | esophageal spasms C0010495 | cutis laxa C0010403 | cryoglobulinemia C0010346 | crohn's disease C0009377 | colonic pseudo-obstruction C0008372 | intrahepatic cholestasis C0007286 | carpal tunnel syndrome C0005779 | coagulopathy C0005779 | coagulopathies C0004943 | behcet's disease C0002871 | anaemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:37) C0026764 | multiple myeloma | 28 C0019080 | hemorrhage | 20 C0035078 | renal failure | 19 C0026764 | myeloma | 17 C0027726 | nephrotic syndrome | 14 C0003873 | rheumatoid arthritis | 13 C0018801 | heart failure | 12 C0015519 | factor x deficiency | 5 C0010346 | crohn's disease | 5 C0033687 | proteinuria | 5 C0442874 | neuropathy | 4 C0007196 | restrictive cardiomyopathy | 4 C0341697 | renal impairment | 3 C0004943 | behcet's disease | 3 C0022661 | chronic renal failure | 2 C0267373 | intestinal bleeding | 2 C0334044 | dyscrasia | 2 C0011991 | diarrhea | 2 C0022661 | end-stage renal disease | 2 C1565489 | renal insufficiency | 2 C0259749 | autonomic neuropathy | 1 C0037284 | skin lesions | 1 C0010495 | cutis laxa | 1 C0026848 | myopathy | 1 C0238239 | light chain deposition disease | 1 C0007286 | carpal tunnel syndrome | 1 C0005779 | coagulopathies | 1 C0041948 | uraemia | 1 C0019209 | hepatomegaly | 1 C0020541 | portal hypertension | 1 C0020649 | hypotension | 1 C2363906 | splenic calcification | 1 C0034150 | purpura | 1 C0018801 | cardiac failure | 1 C0023788 | whipple's disease | 1 C0022658 | nephropathy | 1 C0033860 | psoriasis | 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:15) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104895094 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243403 | T | C,A |
| rs104895097 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243205 | C | T |
| rs11541794 | 24131106 | 7276 | TTR | umls:C0002726 | BeFree | For familial TTR amyloidosis cardiac involvement is frequent and mortality high for T60A, V122I and V30M genotypes. | 0.206845043 | 2014 | TTR | 18 | 31593004 | A | G |
| rs11550199 | 1311922 | 2934 | GSN | umls:C0002726 | BeFree | The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin. | 0.011139048 | 1992 | GSN | 9 | 121312363 | A | G |
| rs11550199 | 10744159 | 2934 | GSN | umls:C0002726 | BeFree | Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis. | 0.011139048 | 2000 | GSN | 9 | 121312363 | A | G |
| rs11550199 | 1652889 | 2934 | GSN | umls:C0002726 | BeFree | The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin. | 0.011139048 | 1991 | GSN | 9 | 121312363 | A | G |
| rs237025 | 16735488 | 387082 | SUMO4 | umls:C0002726 | BeFree | SUMO4 M55V variant was associated not only with type 1 diabetes [odds ratio (OR), 1.42; 95% confidence interval (CI), 1.09-1.84; P = 0.0072], but also with increased risk of other autoimmune diseases, AITD (OR, 1.52; 95% CI, 1.14-2.03; P = 0.0041) and RA without amyloidosis (OR, 1.53; 95% CI, 1.65-2.24; P = 0.027), but not primary Sjögren's syndrome. | 0.000271442 | 2006 | TAB2;SUMO4 | 6 | 149400554 | G | A |
| rs28940578 | 24593212 | 4210 | MEFV | umls:C0002726 | BeFree | Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I. | 0.064186018 | 2014 | MEFV | 16 | 3243405 | C | T |
| rs28940578 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243405 | C | T |
| rs28940579 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243310 | A | T,G |
| rs28940580 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3243447 | C | T,G |
| rs371792178 | 23231421 | 1806 | DPYD | umls:C0002726 | BeFree | Herein we report the first description of the (99mTc-DPD scintigraphy profile in a patient with suspected amyloidotic cardiomyopathy and a final EMB- and genetically-proven diagnosis of familial apolipoprotein AI amyloidosis due to Leu174Ser variant. | 0.001085767 | 2013 | DPYD | 1 | 97699507 | G | A,C |
| rs3743930 | 15071491 | 4210 | MEFV | umls:C0002726 | BeFree | The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant. | 0.064186018 | 2004 | MEFV | 16 | 3254626 | C | G |
| rs3743930 | 11029479 | 4210 | MEFV | umls:C0002726 | BeFree | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. | 0.064186018 | 2000 | MEFV | 16 | 3254626 | C | G |
| rs63750526 | 20630068 | 5663 | PSEN1 | umls:C0002726 | BeFree | This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation. | 0.121085767 | 2010 | PSEN1 | 14 | 73192832 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002715 | Abnormality of the immune system | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0100540 | Palpebral edema | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| 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:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0007328 | Impaired pain sensation | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0001582 | Redundant skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000071 | Ureteral stenosis | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000100 | Nephrotic syndrome | 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:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001582 | Redundant skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| 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:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001131 | Corneal dystrophy | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002715 | Abnormality of the immune system | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0007328 | Impaired pain sensation | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0001269 | Hemiparesis | 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:0100540 | Palpebral edema | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 59 |
|---|---|
| Disease | amyloidosis |
| Case | (Waiting for update.) |