PedAM

Pediatric Disease Annotations & Medicines


	lupus

Disease ID	1489
Disease	lupus
Definition	A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa.
Synonym	lupus - tuberculous lupus exedens lupus tuberculosis lupus vulgaris lupus vulgaris (disorder) lupus vulgaris [disease/finding] lv - lupus vulgaris tuberculosis - lupus nos tuberculosis - lupus nos (disorder) tuberculosis cutis luposa tuberculosis luposa cutis tuberculosis lupus exedens
DOID	DOID:5380 DOID:8857
UMLS	C0024131
MeSH	D008177
SNOMED-CT	SNOMEDCT_US_2016_09_01:10528009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:434) C0027697 \| nephritis \| 51 C0004153 \| atherosclerosis \| 35 C0085278 \| antiphospholipid syndrome \| 32 C0017658 \| glomerulonephritis \| 31 C0022658 \| renal disease \| 30 C0040034 \| thrombocytopenia \| 24 C0042384 \| vasculitis \| 23 C0024143 \| lupus nephritis \| 21 C0003864 \| arthritis \| 19 C0040053 \| thrombosis \| 19 C0033687 \| proteinuria \| 17 C0024141 \| systemic lupus erythematosus \| 16 C0020538 \| hypertension \| 16 C0022661 \| end-stage renal disease \| 15 C0042373 \| vascular disease \| 14 C0002871 \| anemia \| 14 C0042769 \| virus infection \| 13 C0034150 \| purpura \| 12 C0409974 \| lupus erythematosus \| 12 C0022658 \| nephropathy \| 11 C0035078 \| renal failure \| 11 C0007222 \| cardiovascular disease \| 11 C0011570 \| depression \| 10 C0003873 \| rheumatoid arthritis \| 9 C0034155 \| thrombotic thrombocytopenic purpura \| 9 C0022658 \| kidney disease \| 9 C0041296 \| tuberculosis \| 8 C0033975 \| psychosis \| 8 C0027726 \| nephrotic syndrome \| 7 C0027051 \| myocardial infarction \| 7 C0024299 \| lymphoma \| 7 C0009782 \| connective tissue disease \| 7 C0027051 \| myocardial infarct \| 7 C0021053 \| immune disease \| 7 C0007137 \| squamous cell carcinoma \| 6 C0030305 \| pancreatitis \| 6 C0015230 \| rash \| 6 C0026896 \| myasthenia gravis \| 6 C0948265 \| metabolic syndrome \| 6 C0019158 \| hepatitis \| 6 C0033860 \| psoriasis \| 6 C0002874 \| aplastic anemia \| 6 C0442874 \| neuropathy \| 5 C0235618 \| proliferative glomerulonephritis \| 5 C0011603 \| dermatitis \| 5 C0019360 \| zoster \| 5 C0003467 \| anxiety \| 5 C0027121 \| myositis \| 5 C0024291 \| hemophagocytic syndrome \| 5 C0022661 \| chronic kidney disease \| 5 C0006663 \| calcinosis \| 5 C0019360 \| herpes zoster \| 5 C0014118 \| endocarditis \| 5 C0040128 \| thyroid disease \| 4 C0004030 \| aspergillosis \| 4 C0014544 \| epilepsy \| 4 C0019196 \| hepatitis c \| 4 C0270612 \| leukoencephalopathy \| 4 C0035309 \| retinopathy \| 4 C0155626 \| acute myocardial infarction \| 4 C0010346 \| crohn's disease \| 4 C0042870 \| vitamin d defic \| 4 C0021400 \| influenza \| 4 C0031117 \| peripheral neuropathy \| 4 C0019163 \| hepatitis b \| 4 C0020542 \| pulmonary hypertension \| 4 C0025289 \| meningitis \| 4 C0002871 \| anaemia \| 4 C0021847 \| intestinal pseudo-obstruction \| 4 C0042870 \| vitamin d deficiency \| 4 C0024115 \| lung disease \| 4 C0162855 \| mucinosis \| 4 C0014742 \| erythema multiforme \| 4 C0032285 \| pneumonia \| 4 C0021831 \| enteropathy \| 4 C0024312 \| lymphopenia \| 4 C0020455 \| hypergammaglobulinemia \| 4 C0026946 \| fungal infection \| 4 C0149530 \| congenital heart block \| 3 C0032285 \| pneumonitis \| 3 C0026975 \| myelitis \| 3 C0027873 \| neuromyelitis optica \| 3 C0009782 \| connective tissue diseases \| 3 C0001815 \| myelofibrosis \| 3 C0042373 \| vascular diseases \| 3 C0039263 \| takayasu's arteritis \| 3 C0011849 \| diabetes mellitus \| 3 C0001339 \| acute pancreatitis \| 3 C0006666 \| calciphylaxis \| 3 C0022661 \| chronic renal failure \| 3 C0027059 \| myocarditis \| 3 C0010068 \| coronary artery disease \| 3 C0026654 \| moyamoya syndrome \| 3 C1565489 \| renal insufficiency \| 3 C0024530 \| malaria \| 3 C0031039 \| pericardial effusion \| 3 C0011847 \| diabetes \| 3 C0035435 \| rheumatic disease \| 3 C0037198 \| sinus thrombosis \| 3 C0403416 \| crescentic glomerulonephritis \| 3 C0026654 \| moyamoya \| 3 C0007642 \| cellulitis \| 3 C0241910 \| autoimmune hepatitis \| 3 C0022660 \| acute renal failure \| 3 C0034735 \| raynaud's phenomenon \| 3 C1619734 \| pulmonary arterial hypertension \| 3 C0007177 \| cardiac tamponade \| 3 C0022735 \| klinefelter's syndrome \| 3 C1527336 \| sjogren's syndrome \| 3 C0033680 \| protein-losing enteropathy \| 3 C0018801 \| heart failure \| 2 C0032231 \| pleuritis \| 2 C0003874 \| septic arthritis \| 2 C0002880 \| autoimmune hemolytic anemia \| 2 C0023890 \| cirrhosis \| 2 C0021359 \| infertile \| 2 C0242584 \| autoimmune thrombocytopenia \| 2 C0031117 \| peripheral neuropathies \| 2 C0003486 \| aortic aneurysm \| 2 C0026272 \| mixed connective tissue disease \| 2 C0272242 \| complement deficiency \| 2 C0085278 \| antiphospholipid antibody syndrome \| 2 C0035435 \| rheumatic diseases \| 2 C0030326 \| panniculitis \| 2 C0034152 \| henoch-schonlein purpura \| 2 C0007570 \| celiac disease \| 2 C0026764 \| multiple myeloma \| 2 C0026946 \| fungal infections \| 2 C0032326 \| pneumothorax \| 2 C0178664 \| glomerulosclerosis \| 2 C0021390 \| inflammatory bowel disease \| 2 C0021655 \| insulin resistance syndrome \| 2 C0034069 \| pulmonary fibrosis \| 2 C0026848 \| myopathy \| 2 C0021831 \| bowel disease \| 2 C0018799 \| heart disease \| 2 C0003504 \| aortic regurgitation \| 2 C0039614 \| tetanus \| 2 C0206062 \| interstitial lung disease \| 2 C0085436 \| cryptococcal meningitis \| 2 C0009319 \| colitis \| 2 C0024314 \| lymphoproliferative disorder \| 2 C0001126 \| renal tubular acidosis \| 2 C0022116 \| ischemia \| 2 C0040053 \| thrombus \| 2 C0744421 \| immune complex glomerulonephritis \| 2 C0014306 \| enophthalmos \| 2 C1704436 \| peripheral arterial disease \| 2 C0026764 \| myeloma \| 2 C0004134 \| ataxia \| 2 C0002878 \| hemolytic anemia \| 2 C0035302 \| retinal artery occlusion \| 2 C0035333 \| retinitis \| 2 C0011644 \| scleroderma \| 2 C0151740 \| intracranial hypertension \| 2 C0007758 \| cerebellar ataxia \| 2 C0024205 \| lymphadenitis \| 2 C0393819 \| chronic inflammatory demyelinating polyradiculoneuropathy \| 2 C0600260 \| obstructive pulmonary disease \| 2 C0027707 \| interstitial nephritis \| 2 C0004623 \| bacterial infections \| 2 C0023895 \| liver disease \| 2 C0085278 \| anti-phospholipid syndrome \| 2 C1290398 \| cerebral artery aneurysm \| 2 C0000889 \| acanthosis nigricans \| 2 C0149931 \| migraine \| 2 C0221239 \| rapidly progressive glomerulonephritis \| 2 C0038325 \| stevens-johnson syndrome \| 2 C0014038 \| encephalitis \| 2 C0019360 \| herpes zoster infection \| 2 C0852949 \| arterial disease \| 2 C0004623 \| bacterial infection \| 2 C0026718 \| mucormycosis \| 2 C0027947 \| neutropenia \| 2 C0034902 \| pure red cell aplasia \| 2 C0007222 \| cardiovascular diseases \| 2 C0024115 \| pulmonary disease \| 2 C0032285 \| pneumoniae \| 2 C0032914 \| preeclampsia \| 2 C0032708 \| porphyria \| 2 C0004096 \| asthma \| 2 C0017661 \| iga nephropathy \| 2 C1704275 \| pyomyositis \| 2 C0023281 \| leishmaniasis \| 2 C0155765 \| microangiopathy \| 2 C0272286 \| immune thrombocytopenia \| 2 C0031511 \| pheochromocytoma \| 2 C0023524 \| progressive multifocal leukoencephalopathy \| 2 C0003850 \| arteriosclerosis \| 2 C0023530 \| leukopenia \| 2 C0031046 \| pericarditis \| 2 C0024137 \| cutaneous lupus erythematosus \| 1 C0041309 \| tuberculosis cutis \| 1 C0002878 \| haemolytic anaemia \| 1 C0085293 \| hepatitis e \| 1 C0023860 \| listeria monocytogenes infection \| 1 C0031069 \| familial mediterranean fever \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0001623 \| adrenal insufficiency \| 1 C0679466 \| cognitive deficits \| 1 C0014868 \| esophagitis \| 1 C0002173 \| follicular mucinosis \| 1 C0019048 \| hemoglobinuria \| 1 C0020502 \| hyperparathyroidism \| 1 C0022656 \| renal cortical necrosis \| 1 C0007766 \| cranial aneurysm \| 1 C0031212 \| personality disorders \| 1 C0035302 \| retinal artery occlusions \| 1 C0020626 \| hypoparathyroidism \| 1 C0009326 \| collagen disease \| 1 C0032305 \| pneumocystis carinii pneumonia \| 1 C0041188 \| tropical pyomyositis \| 1 C0038013 \| ankylosing spondylitis \| 1 C0263401 \| cutis marmorata \| 1 C0878544 \| cardiomyopathy \| 1 C0276088 \| escherichia coli septicemia \| 1 C0752124 \| spinocerebellar ataxia type 6 \| 1 C0028242 \| nocardiosis \| 1 C0010051 \| coronary aneurysm \| 1 C0009326 \| collagen diseases \| 1 C0012569 \| diplopia \| 1 C0040147 \| thyroiditis \| 1 C0036416 \| scleritis \| 1 C0031036 \| polyarteritis nodosa \| 1 C0010414 \| cryptococcus neoformans \| 1 C0022661 \| end stage renal disease \| 1 C0031039 \| pericardial effusions \| 1 C0085292 \| stiff-person syndrome \| 1 C0020295 \| hydronephrosis \| 1 C0020503 \| secondary hyperparathyroidism \| 1 C0010051 \| coronary aneurysms \| 1 C0281963 \| red cell aplasia \| 1 C0020598 \| hypoglycemia \| 1 C0026946 \| mycosis \| 1 C0026848 \| myopathies \| 1 C0035305 \| retinal detachment \| 1 C0035305 \| retinal detachments \| 1 C0151436 \| leukocytoclastic vasculitis \| 1 C0041182 \| trophoblastic tumor \| 1 C0030499 \| parasitic diseases \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0151744 \| myocardial ischemia \| 1 C0162299 \| thyroid cyst \| 1 C0001403 \| primary adrenal insufficiency \| 1 C0549473 \| thyroid carcinoma \| 1 C0564778 \| obstetrical complications \| 1 C0019196 \| hepatitis c infection \| 1 C0030807 \| pemphigus \| 1 C0042109 \| urticaria \| 1 C0022735 \| klinefelter syndrome \| 1 C0398623 \| hypercoagulability \| 1 C0027721 \| minimal change nephropathy \| 1 C0011854 \| type i diabetes \| 1 C0035579 \| hypovitaminosis d \| 1 C0085278 \| anti-phospholipid antibody syndrome \| 1 C0014121 \| infective endocarditis \| 1 C0302592 \| cervical ca \| 1 C0020514 \| hyperprolactinemia \| 1 C0033845 \| idiopathic intracranial hypertension \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0152026 \| retinal vasculitis \| 1 C0035328 \| retinal vein occlusion \| 1 C1145670 \| respiratory failure \| 1 C0007115 \| thyroid ca \| 1 C0033680 \| protein losing enteropathy \| 1 C0030446 \| paralytic ileus \| 1 C0001824 \| granulocytopenia \| 1 C0001175 \| acquired immune deficiency syndrome (aids) \| 1 C0151311 \| cranial nerve palsy \| 1 C0042373 \| vascular disorders \| 1 C0002874 \| aplastic anaemia \| 1 C0020540 \| malignant hypertension \| 1 C0742472 \| central nervous system lymphoma \| 1 C0007134 \| renal cell carcinoma \| 1 C0010054 \| coronary atherosclerosis \| 1 C0032269 \| streptococcus pneumoniae infection \| 1 C0155357 \| posterior scleritis \| 1 C0022408 \| joint disease \| 1 C0002170 \| alopecia \| 1 C0033975 \| psychotic disorder \| 1 C0001403 \| addison's disease \| 1 C0023890 \| liver cirrhosis \| 1 C0022661 \| end-stage renal failure \| 1 C0020640 \| prothrombin deficiency \| 1 C0018784 \| sensorineural hearing loss \| 1 C0034012 \| delayed puberty \| 1 C0018552 \| hamartoma \| 1 C0001815 \| bone marrow fibrosis \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C0017658 \| glomerulonephritides \| 1 C0006142 \| breast cancer \| 1 C0014059 \| acute disseminated encephalomyelitis \| 1 C0276721 \| phaeohyphomycosis \| 1 C0041349 \| tubulointerstitial nephritis \| 1 C0021345 \| infectious mononucleosis \| 1 C0035258 \| restless legs syndrome (rls) \| 1 C0023418 \| leukemia \| 1 C0034065 \| pulmonary embolism \| 1 C0282529 \| rhizomelic chondrodysplasia punctata \| 1 C0085273 \| parvovirus b19 infection \| 1 C0042900 \| vitiligo \| 1 C0041296 \| mycobacterium tuberculosis infection \| 1 C0178879 \| urinary tract obstruction \| 1 C0151650 \| renal fibrosis \| 1 C0013592 \| ectropion \| 1 C0007131 \| non-small cell lung cancer \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 1 C0751878 \| cns vasculitis \| 1 C0238124 \| necrotizing fasciitis \| 1 C0024314 \| lymphoproliferative disorders \| 1 C1510471 \| hypovitaminosis \| 1 C0339962 \| pulmonary mucormycosis \| 1 C0032305 \| pneumocystis jiroveci pneumonia \| 1 C0017605 \| angle closure glaucoma \| 1 C0206157 \| nemaline myopathy \| 1 C0206674 \| villous adenoma \| 1 C0001175 \| acquired immune deficiency syndrome \| 1 C0017665 \| membranous nephropathy \| 1 C0206178 \| cmv retinitis \| 1 C0041318 \| tuberculous meningitis \| 1 C0281658 \| intraocular lymphoma \| 1 C0002895 \| sickle cell disease \| 1 C0034063 \| pulmonary edema \| 1 C0007682 \| cns disease \| 1 C0206666 \| placental site trophoblastic tumor \| 1 C0043092 \| wegener granulomatosis \| 1 C1262481 \| eosinophilic gastroenteritis \| 1 C0029882 \| otitis media \| 1 C0019348 \| herpes simplex \| 1 C0024623 \| gastric cancer \| 1 C0022658 \| kidney diseases \| 1 C0162566 \| porphyria cutanea tarda \| 1 C0019202 \| wilson's disease \| 1 C0024299 \| lymphomas \| 1 C0272126 \| evans syndrome \| 1 C0519030 \| klebsiella pneumonia \| 1 C0008445 \| chondrodysplasia punctata \| 1 C0023895 \| liver diseases \| 1 C0029134 \| optic neuritis \| 1 C0022408 \| joint diseases \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C0012546 \| diphtheria \| 1 C0027813 \| neuritis \| 1 C1527383 \| morphea \| 1 C0920350 \| autoimmune thyroiditis \| 1 C1263846 \| attention deficit hyperactivity disorder \| 1 C0043117 \| immune thrombocytopenic purpura \| 1 C0021345 \| mononucleosis \| 1 C1527336 \| sjogren syndrome \| 1 C0087086 \| thrombi \| 1 C0031099 \| periodontitis \| 1 C0007193 \| dilated cardiomyopathies \| 1 C0038362 \| stomatitis \| 1 C0040188 \| tic disorders \| 1 C0019069 \| hemophilia \| 1 C0391820 \| gouty nephropathy \| 1 C0017601 \| glaucoma \| 1 C0038220 \| status epilepticus \| 1 C0017160 \| gastroenteritis \| 1 C0010068 \| coronary heart disease \| 1 C0020676 \| hypothyroidism \| 1 C0012813 \| diverticulitis \| 1 C0010481 \| cushing's syndrome \| 1 C0040128 \| thyroid diseases \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0030354 \| papilloma \| 1 C0001175 \| acquired immune deficiency \| 1 C0022661 \| end stage kidney disease \| 1 C0032305 \| pneumocystis \| 1 C0035078 \| kidney failure \| 1 C0149925 \| small cell lung cancer \| 1 C0007222 \| cardiovascular disorders \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0005586 \| bipolar affective disorder \| 1 C0026769 \| multiple sclerosis \| 1 C0042594 \| vestibular disorders \| 1 C0021845 \| intestinal perforation \| 1 C0032587 \| polyradiculoneuropathy \| 1 C0022661 \| end-stage kidney disease \| 1 C0007688 \| central retinal artery occlusion \| 1 C0025309 \| meningoencephalitis \| 1 C0031090 \| periodontal disease \| 1 C0018378 \| guillain-barre syndrome \| 1 C0024117 \| chronic obstructive pulmonary disease \| 1 C0029456 \| osteoporosis \| 1 C0017665 \| membranous glomerulonephritis \| 1 C0162429 \| malnutrition \| 1 C1258215 \| ileus \| 1 C0001430 \| adenoma \| 1 C0026985 \| myelodysplasia \| 1 C0553723 \| cutaneous squamous cell carcinoma \| 1 C0041408 \| turner syndrome \| 1 C0002895 \| sickle-cell disease \| 1 C0007847 \| cervical cancer \| 1 C0011615 \| atopic dermatitis \| 1 C0010072 \| coronary thrombosis \| 1 C0079731 \| b cell lymphoma \| 1 C0155686 \| acute myocarditis \| 1 C0949690 \| spondyloarthritis \| 1 C0011633 \| dermatomyositis \| 1 C0027030 \| myiasis \| 1 C0036202 \| sarcoidosis \| 1 C0002453 \| amenorrhea \| 1 C0152966 \| pneumococcal septicaemia \| 1 C0015458 \| parry-romberg syndrome \| 1 C0022408 \| arthropathy \| 1 C0027709 \| nephrocalcinosis \| 1 C0041321 \| miliary tuberculosis \| 1 C0343525 \| lemierre's syndrome \| 1 C0524812 \| intracranial hypotension \| 1 C0007766 \| intracranial aneurysm \| 1 C0003486 \| aortic aneurysms \| 1 C0079293 \| epidermolysis bullosa acquisita \| 1 C0206093 \| primitive neuroectodermal tumor \| 1 C0010692 \| cystitis \| 1 C0030499 \| parasitic disease \| 1 C0006267 \| bronchiectasis \| 1 C0037116 \| silicosis \| 1 C0730306 \| ocular lymphoma \| 1 C0026948 \| mycosis fungoides \| 1 C0038463 \| strongyloidiasis \| 1 C0023343 \| hansen's disease \| 1 C0042373 \| vascular disorder \| 1 C0021359 \| infertility \| 1 C0014175 \| endometriosis \| 1 C0014070 \| encephalomyelitis \| 1 C0041328 \| renal tuberculosis \| 1 C0281658 \| primary intraocular lymphoma \| 1 C0024894 \| mastitis \| 1 C0040100 \| thymoma \| 1 C0020640 \| hypoprothrombinemia \| 1 C0019348 \| herpes simplex infection \| 1 C0000786 \| miscarriage \| 1 C0152025 \| polyneuropathy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:31) 1636 \| ACE \| infer 596 \| BCL2 \| infer 960 \| CD44 \| infer 1493 \| CTLA4 \| infer 1565 \| CYP2D6 \| infer 355 \| FAS \| infer 2212 \| FCGR2A \| infer 2215 \| FCGR3B \| infer 2244 \| FGB \| infer 3107 \| HLA-C \| infer 3123 \| HLA-DRB1 \| infer 3459 \| IFNGR1 \| infer 3586 \| IL10 \| infer 3553 \| IL1B \| infer 3557 \| IL1RN \| infer 3569 \| IL6 \| infer 4049 \| LTA \| infer 4153 \| MBL2 \| infer 142 \| PARP1 \| infer 5133 \| PDCD1 \| infer 26191 \| PTPN22 \| infer 6401 \| SELE \| infer 6891 \| TAP2 \| infer 7124 \| TNF \| infer 7133 \| TNFRSF1B \| infer 7421 \| VDR \| infer 647167 \| EEF1A1P14 \| infer 2078 \| ERG \| infer 352961 \| HCG26 \| infer 1316 \| KLF6 \| infer 401725 \| RPL6P25 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1489
Disease	lupus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:317) HP:0000123 \| Nephritis \| 50 HP:0002621 \| Atherosclerosis \| 35 HP:0000099 \| Glomerular nephritis \| 30 HP:0001873 \| Low platelet count \| 24 HP:0002960 \| Autoimmune condition \| 24 HP:0002633 \| Vasculitis \| 22 HP:0003774 \| End-stage renal failure \| 20 HP:0003613 \| Antiphospholipid antibodies \| 18 HP:0000093 \| Proteinuria \| 17 HP:0001369 \| Arthritis \| 17 HP:0001903 \| Anemia \| 17 HP:0002725 \| Systemic lupus erythematosus \| 16 HP:0000822 \| Hypertension \| 16 HP:0000083 \| Renal insufficiency \| 13 HP:0012378 \| Fatigue \| 13 HP:0000979 \| Purpura \| 12 HP:0002617 \| Aneurysmal dilatation \| 11 HP:0010885 \| Aseptic necrosis \| 11 HP:0000112 \| Nephropathy \| 11 HP:0000716 \| Depression \| 10 HP:0000709 \| Psychosis \| 8 HP:0001298 \| Encephalopathy \| 8 HP:0001541 \| Ascites \| 8 HP:0001297 \| Cerebral vascular events \| 8 HP:0001370 \| Rheumatoid arthritis \| 7 HP:0000100 \| Nephrosis \| 7 HP:0000855 \| Insulin resistance \| 7 HP:0001658 \| Myocardial infarction \| 7 HP:0002665 \| Lymphoma \| 7 HP:0002721 \| Immunodeficiency \| 7 HP:0003473 \| Fatigable weakness \| 6 HP:0012115 \| Liver inflammation \| 6 HP:0000992 \| Skin photosensitivity \| 6 HP:0003765 \| Psoriasis \| 6 HP:0001733 \| Pancreatic inflammation \| 6 HP:0002664 \| Neoplasia \| 6 HP:0001915 \| Aplastic anemia \| 6 HP:0030731 \| Carcinoma \| 6 HP:0000752 \| Hyperactive behavior \| 5 HP:0000739 \| Anxiety \| 5 HP:0003761 \| Calcinosis \| 5 HP:0100614 \| Muscle inflammation \| 5 HP:0002315 \| Headaches \| 5 HP:0012622 \| Chronic kidney disease \| 5 HP:0002860 \| Squamous cell carcinoma \| 5 HP:0100584 \| Endocarditis \| 5 HP:0000708 \| Behavioral problems \| 4 HP:0002352 \| Leukoencephalopathy \| 4 HP:0002459 \| Dysautonomia \| 4 HP:0001250 \| Seizures \| 4 HP:0004389 \| Intestinal pseudo-obstruction \| 4 HP:0010702 \| Hypergammaglobulinaemia \| 4 HP:0001888 \| Lymphocytopenia \| 4 HP:0000820 \| Thyroid abnormality \| 4 HP:0001907 \| Thromboembolic disease \| 4 HP:0100543 \| Cognitive deficits \| 4 HP:0001945 \| Fever \| 4 HP:0000488 \| Noninflammatory retina disease \| 4 HP:0002092 \| Pulmonary artery hypertension \| 4 HP:0002829 \| Arthralgias \| 4 HP:0045073 \| Serositis \| 4 HP:0100512 \| Vitamin D deficiency \| 4 HP:0002202 \| Pleural effusion \| 4 HP:0001287 \| Meningitis \| 4 HP:0002090 \| Pneumonia \| 4 HP:0012531 \| Pain \| 3 HP:0011974 \| Myelofibrosis \| 3 HP:0002243 \| Protein-losing enteropathy \| 3 HP:0004416 \| Precocious atherosclerosis \| 3 HP:0030880 \| Raynaud phenomenon \| 3 HP:0002242 \| Enteropathy \| 3 HP:0001714 \| Ventricular hypertrophy \| 3 HP:0000969 \| Dropsy \| 3 HP:0100758 \| Gangrene \| 3 HP:0000819 \| Diabetes mellitus \| 3 HP:0004943 \| Accelerated atherosclerosis \| 3 HP:0004944 \| Cerebral artery aneurysm \| 3 HP:0001919 \| Acute renal failure \| 3 HP:0008653 \| Crescentic glomerulonephritis \| 3 HP:0100280 \| Morbus Crohn \| 3 HP:0001698 \| Pericardial effusions \| 3 HP:0012819 \| Myocarditis \| 3 HP:0001735 \| Acute pancreatitis \| 3 HP:0001744 \| Splenomegaly \| 3 HP:0003645 \| Delayed thromboplastin generation \| 3 HP:0009830 \| Peripheral neuritis \| 3 HP:0100658 \| Bacterial infection of skin \| 3 HP:0004936 \| Blood clot in vein \| 3 HP:0001635 \| Congestive heart failure \| 3 HP:0100550 \| Rupture of tendons \| 3 HP:0012722 \| Heart block \| 3 HP:0001677 \| Coronary artery disease \| 3 HP:0006775 \| Multiple myeloma \| 2 HP:0002138 \| Subarachnoid hemorrhage \| 2 HP:0002076 \| Migraine headaches \| 2 HP:0100665 \| Angiooedema \| 2 HP:0012410 \| Pure red cell aplasia \| 2 HP:0002720 \| Decreased immunoglobulin A \| 2 HP:0000096 \| Glomerulosclerosis \| 2 HP:0002955 \| Granulomatosis \| 2 HP:0004859 \| Amegakaryocytic thrombocytopenia \| 2 HP:0002516 \| Intracranial pressure elevation \| 2 HP:0003095 \| Septic arthritis \| 2 HP:0003198 \| Myopathic changes \| 2 HP:0002863 \| Myelodysplastic syndrome \| 2 HP:0003493 \| Elevated antinuclear antibody \| 2 HP:0012490 \| Inflammation of fat tissue \| 2 HP:0100324 \| Progressive systemic scleroderma \| 2 HP:0001251 \| Ataxia \| 2 HP:0002634 \| Arteriosclerosis \| 2 HP:0012578 \| Membranous glomerulonephritis \| 2 HP:0100699 \| Scarring \| 2 HP:0003073 \| Hypoalbuminaemia \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0001970 \| Interstitial nephritis \| 2 HP:0000572 \| Visual loss \| 2 HP:0000490 \| Sunken eyes \| 2 HP:0001659 \| Aortic insufficiency \| 2 HP:0002206 \| Pulmonary fibrosis \| 2 HP:0100033 \| Tic disorder \| 2 HP:0001701 \| Pericarditis \| 2 HP:0002666 \| Pheochromocytoma \| 2 HP:0001875 \| Neutropenia \| 2 HP:0004942 \| Aortic aneurysm \| 2 HP:0001410 \| Decreased liver function \| 2 HP:0001712 \| Left ventricular hypertrophy \| 2 HP:0001947 \| Renal tubular acidosis \| 2 HP:0002383 \| Encephalitis \| 2 HP:0002608 \| Celiac disease \| 2 HP:0002102 \| Pleuritis \| 2 HP:0011123 \| Skin inflammation \| 2 HP:0002107 \| Collapsed lung \| 2 HP:0006530 \| Interstitial lung disease \| 2 HP:0001324 \| Muscular weakness \| 2 HP:0004431 \| Complement deficiency \| 2 HP:0002910 \| Elevated transaminases \| 2 HP:0100602 \| Pre-eclampsia \| 2 HP:0003281 \| Increased ferritin \| 2 HP:0001973 \| Autoimmune thrombocytopenia \| 2 HP:0012486 \| Inflammation of spinal cord \| 2 HP:0005523 \| Lymphoproliferative disorder \| 2 HP:0011675 \| Arrhythmias \| 2 HP:0002583 \| Colitis \| 2 HP:0004950 \| Peripheral artery disease \| 2 HP:0012089 \| Arteritis \| 2 HP:0100806 \| Sepsis \| 2 HP:0002099 \| Asthma \| 2 HP:0000956 \| Keratosis nigricans \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0001882 \| Decreased blood leukocyte number \| 2 HP:0002716 \| Lymph node hyperplasia \| 2 HP:0010783 \| Erythema \| 2 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0200123 \| Chronic liver inflammation \| 2 HP:0002840 \| Lymphadenitis \| 2 HP:0002500 \| Leukoaraiosis \| 1 HP:0001581 \| Recurrent skin infections \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0012281 \| Chylous ascites \| 1 HP:0000388 \| Otitis media \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0100539 \| Periorbital swelling \| 1 HP:0030065 \| Primitive neuroectodermal tumor \| 1 HP:0007029 \| Cerebral saccular aneurysm \| 1 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 1 HP:0001928 \| Abnormal blood coagulation studies \| 1 HP:0001056 \| Milia \| 1 HP:0001289 \| Confusion \| 1 HP:0002907 \| Microhematuria \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0010566 \| Hamartoma \| 1 HP:0000843 \| Hyperparathyroidism \| 1 HP:0005305 \| Cerebral vein thrombosis \| 1 HP:0008978 \| Necrotizing myopathy \| 1 HP:0012075 \| Personality disorder \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0002113 \| Pulmonary infiltrates \| 1 HP:0012641 \| Decreased intracranial pressure \| 1 HP:0001622 \| Premature delivery \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0004395 \| Malnutrition \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0100825 \| Inflammation of the lips \| 1 HP:0005206 \| Pancreatic pseudocyst \| 1 HP:0000789 \| Infertility \| 1 HP:0002590 \| Paralytic ileus \| 1 HP:0007380 \| Facial telangiectatic vessels \| 1 HP:0004929 \| Coronary artherosclerosis \| 1 HP:0011900 \| Hypofibrinogenemia \| 1 HP:0012231 \| Exudative retinal detachment \| 1 HP:0000988 \| Exanthem \| 1 HP:0000829 \| Hypoparathyroidism \| 1 HP:0002093 \| progressive respiratory failure \| 1 HP:0100022 \| Movement disorder \| 1 HP:0100646 \| Thyroiditis \| 1 HP:0003641 \| Hemoglobin in urine \| 1 HP:0030162 \| Glomerulomegaly \| 1 HP:0007302 \| Bipolar disorder \| 1 HP:0007417 \| Discoid lupus erythematosus \| 1 HP:0003040 \| Arthropathy \| 1 HP:0003326 \| Muscle pain \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0030692 \| Brain tumor \| 1 HP:0000126 \| Hydronephrosis \| 1 HP:0004420 \| Arterial thrombosis \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0030358 \| Non-small cell lung carcinoma \| 1 HP:0000963 \| Thin skin \| 1 HP:0200043 \| Verrucae \| 1 HP:0002729 \| Follicular hyperplasia \| 1 HP:0001061 \| Acne \| 1 HP:0007018 \| Attention deficits \| 1 HP:0001596 \| Hair loss \| 1 HP:0000938 \| Decreased bone mineral density \| 1 HP:0002232 \| Patchy alopecia \| 1 HP:0012223 \| Ruptured spleen \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0030350 \| Erythematous papule \| 1 HP:0100534 \| Episcleritis \| 1 HP:0000870 \| Hyperprolactinemia \| 1 HP:0100532 \| Scleritis \| 1 HP:0002197 \| Generalized seizures \| 1 HP:0012579 \| Minimal change glomerulonephritis \| 1 HP:0012175 \| Resistance to activated protein C \| 1 HP:0000501 \| Glaucoma \| 1 HP:0100522 \| Thymoma \| 1 HP:0002605 \| Hepatic necrosis \| 1 HP:0000867 \| Secondary hyperparathyroidism \| 1 HP:0012133 \| Erythroid hypoplasia \| 1 HP:0001045 \| Blotchy loss of skin color \| 1 HP:0100653 \| Optic neuritis \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0030882 \| Enlargement of the diameter (cross-section) of a coronary artery. \| 1 HP:0100578 \| Lipoatrophy \| 1 HP:0001025 \| Hives \| 1 HP:0003470 \| Inability to move \| 1 HP:0008207 \| Addison's disease \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0001279 \| Syncope \| 1 HP:0012344 \| Morphea \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0000790 \| Hematuria \| 1 HP:0010280 \| Stomatitis \| 1 HP:0011450 \| CNS infection \| 1 HP:0011695 \| Cerebellar hemorrhage \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0002514 \| Intracranial calcifications \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0000823 \| Pubertal delay \| 1 HP:0012062 \| Bone cysts \| 1 HP:0030127 \| Endometriosis \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0001788 \| Premature rupture of membranes \| 1 HP:0006824 \| Cranial nerve palsy \| 1 HP:0002595 \| Gastrointestinal atony \| 1 HP:0006859 \| Posterior leukoencephalopathy \| 1 HP:0002354 \| Memory loss \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0010302 \| Tumor of the spinal cord \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0000141 \| Abnormal absence of menstruation \| 1 HP:0002321 \| Vertigo \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0012588 \| Steroid-resistant nephrotic syndrome \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0100633 \| Inflammation of the esophagus \| 1 HP:0002273 \| Tetraparesis \| 1 HP:0200034 \| Papule \| 1 HP:0000651 \| Diplopia \| 1 HP:0100754 \| Mania \| 1 HP:0002890 \| Thyroid carcinoma \| 1 HP:0005942 \| Desquamative interstitial pneumonitis \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0100820 \| Glomerulopathy \| 1 HP:0100607 \| Painful menstruation \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0001663 \| Ventricular fibrillation \| 1 HP:0000656 \| Ectropion \| 1 HP:0001913 \| Granulocytopenia \| 1 HP:0003651 \| Foam cells \| 1 HP:0100718 \| Uterine rupture \| 1 HP:0001909 \| Leukemia \| 1 HP:0030760 \| Kidney fibrosis \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0030069 \| Primary central nervous system lymphoma \| 1 HP:0002072 \| Chorea \| 1 HP:0001751 \| Vestibular dysfunction \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1 HP:0011106 \| Depleted blood volume \| 1 HP:0006515 \| Interstitial pneumonitis \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0000965 \| Livedo reticularis \| 1 HP:0012595 \| Mild proteinuria \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0011096 \| Demyelination \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0012156 \| Hemophagocytosis \| 1 HP:0000124 \| Renal tubular defect \| 1 HP:0012727 \| Thoracic aortic aneurysm \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0002922 \| Increased CSF protein \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0012740 \| Papilloma \| 1 HP:0001941 \| acidemia \| 1 HP:0011944 \| Small vessel vasculitis \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0000541 \| Detached retina \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1

Disease ID	1489
Disease	lupus
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0041296 \| tuberculosis \| 2 C0007137 \| squamous cell carcinoma \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10516487	21900951	55024	BANK1	umls:C0024131	BeFree	The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.	0.000542884	2012	BANK1	4	101829919	G	T,A
rs1143679	24608226	3684	ITGAM	umls:C0024131	BeFree	Combined protein- and nucleic acid-level effects of rs1143679 (R77H), a lupus-predisposing variant within ITGAM.	0.002171535	2015	ITGAM	16	31265490	G	A
rs1143679	22586164	3684	ITGAM	umls:C0024131	BeFree	The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes.	0.002171535	2012	ITGAM	16	31265490	G	A
rs1270942	21952918	3663	IRF5	umls:C0024131	BeFree	Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).	0.003800186	2012	CFB	6	31951083	A	G
rs13023380	23441136	2547	XRCC6	umls:C0024131	BeFree	DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.	0.000542884	2013	IFIH1	2	162297853	G	A
rs13023380	23441136	4691	NCL	umls:C0024131	BeFree	DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.	0.000271442	2013	IFIH1	2	162297853	G	A
rs1391511	20662065	1316	KLF6	umls:C0024131	GAD	[These results suggest that variation near genes related to inflammatory and apoptotic responses may promote cardiac injury initiated by passively acquired autoantibodies.]	0.002367032	2010	LINC00704;LOC105376373	10	4677604	A	G
rs2070197	21952918	3663	IRF5	umls:C0024131	BeFree	Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).	0.003800186	2012	IRF5	7	128948946	T	C
rs2476601	18759295	26191	PTPN22	umls:C0024131	BeFree	The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus.	0.003181358	2008	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	23359562	26191	PTPN22	umls:C0024131	BeFree	The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus.	0.003181358	2013	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	18759295	7124	TNF	umls:C0024131	BeFree	The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus.	0.008262808	2008	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	23359562	52	ACP1	umls:C0024131	BeFree	The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus.	0.000271442	2013	PTPN22;AP4B1-AS1	1	113834946	A	G
rs3099844	20662065	352961	HCG26	umls:C0024131	GAD	[These results suggest that variation near genes related to inflammatory and apoptotic responses may promote cardiac injury initiated by passively acquired autoantibodies.]	0.002367032	2010	LOC102725068	6	31481199	C	A
rs3131379	21952918	3663	IRF5	umls:C0024131	BeFree	Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).	0.003800186	2012	MSH5;MSH5-SAPCD1	6	31753256	G	A
rs3813946	17360460	1380	CR2	umls:C0024131	BeFree	Single-nucleotide polymorphism 1 (rs3813946), located in the 5' untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus.	0.000814326	2007	CR2	1	207454348	T	C
rs72556554	21937424	11277	TREX1	umls:C0024131	BeFree	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.	0.001628651	2011	TREX1	3	48466996	G	A,C
rs743446	20662065	2078	ERG	umls:C0024131	GAD	[These results suggest that variation near genes related to inflammatory and apoptotic responses may promote cardiac injury initiated by passively acquired autoantibodies.]	0.002367032	2010	NA	21	38684499	A	C

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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