vasculitis |
Disease ID | 37 |
---|---|
Disease | vasculitis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:88) C2697391 | rheumatoid arthritis C2364133 | infection C1994997 | intestinal symptoms C1963736 | tongue necrosis C1963220 | pulmonary hypertension C1963138 | hypertension C1960872 | sural neuropathy C1959635 | parvovirus b19 C1546654 | granuloma C1504530 | secondary epilepsy C1408247 | acute renal disease C1393529 | vascular complications C1299884 | eosinophilic myositis C1090821 | sepsis C0948976 | leukemia cutis C0920157 | mesenteric ischemia C0878643 | epiphenomenon C0856805 | acute paraplegia C0856169 | endothelial dysfunction C0852949 | arterial disease C0752303 | urological manifestations C0752303 | urological manifestation C0748159 | pulmonary involvement C0740343 | mononeuropathy multiplex C0728936 | circulatory disorders C0543697 | mixed cryoglobulinemia C0542007 | cerebral haematoma C0494491 | mononeuropathy C0442874 | neuropathy C0426768 | o sign C0398701 | igg2 deficiency C0398623 | hypercoagulability C0398359 | trousseau's syndrome C0393483 | brainstem encephalitis C0376293 | stigmata C0341221 | gastric necrosis C0340076 | pulmonary eosinophilia C0276908 | pneumocystis jiroveci infection C0271681 | sensory polyneuropathy C0264490 | acute respiratory failure C0238304 | chronic tubulointerstitial nephritis C0221239 | rapidly progressive glomerulonephritis C0220847 | hepatitis c C0206062 | interstitial lung disease C0152025 | polyneuropathy C0151313 | sensory neuropathy C0151295 | mononeuritis multiplex C0149678 | epstein-barr virus infection C0149520 | acute cholecystitis C0043092 | wegener's granulomatosis C0042769 | viral infection C0041956 | ureteral obstruction C0040046 | thrombophlebitis C0040038 | thromboembolic disease C0039591 | testicular pain C0038525 | subarachnoid hemorrhages C0038454 | stroke C0038454 | cerebral infarction C0037299 | cutaneous ulcers C0037285 | skin manifestations C0037284 | skin lesions C0036416 | scleritis C0035435 | rheumatic diseases C0034150 | purpura C0031117 | peripheral neuropathy C0029883 | otitis media with effusion C0029191 | orchitis C0025309 | meningoencephalitis C0024141 | systemic lupus erythematosus C0023223 | leg ulcers C0022661 | end-stage renal disease C0022661 | chronic renal failure C0022660 | acute renal failure C0022116 | ischemia C0021308 | infarction C0020545 | renovascular hypertension C0019080 | hemorrhage C0018994 | hemobilia C0014335 | enteritis C0013604 | oedema C0011633 | dermatomyositis C0010823 | cytomegalovirus infection C0009951 | convulsions C0006666 | calciphylaxis C0004153 | atherosclerosis C0001824 | granulocytopenia C0001363 | acute mesenteric ischemia C0000727 | acute abdomen |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:42) C0009450 | infection | 28 C0024141 | systemic lupus erythematosus | 22 C0034150 | purpura | 19 C0019080 | hemorrhage | 19 C0019196 | hepatitis c | 17 C0038454 | stroke | 16 C0003873 | rheumatoid arthritis | 16 C0022116 | ischemia | 14 C0021308 | infarction | 10 C0426768 | o sign | 7 C0043092 | wegener's granulomatosis | 7 C0543697 | mixed cryoglobulinemia | 6 C0018188 | granuloma | 6 C0442874 | neuropathy | 6 C0013604 | oedema | 5 C0025309 | meningoencephalitis | 5 C0748159 | pulmonary involvement | 4 C0037284 | skin lesions | 4 C0011633 | dermatomyositis | 4 C0031117 | peripheral neuropathy | 3 C0035435 | rheumatic diseases | 3 C0036416 | scleritis | 2 C0020542 | pulmonary hypertension | 2 C0004153 | atherosclerosis | 2 C0022661 | end-stage renal disease | 2 C1393529 | vascular complications | 2 C0018994 | hemobilia | 1 C0014335 | enteritis | 1 C0037285 | skin manifestations | 1 C0042769 | viral infection | 1 C0151295 | mononeuritis multiplex | 1 C0398623 | hypercoagulability | 1 C0023223 | leg ulcers | 1 C0494491 | mononeuropathy | 1 C0856169 | endothelial dysfunction | 1 C0221239 | rapidly progressive glomerulonephritis | 1 C0020538 | hypertension | 1 C0001363 | acute mesenteric ischemia | 1 C0006666 | calciphylaxis | 1 C0149678 | epstein-barr virus infection | 1 C0752303 | urological manifestations | 1 C0920157 | mesenteric ischemia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
---|
(Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs2476601 | 22696186 | 26191 | PTPN22 | umls:C0042384 | BeFree | This meta-analysis does not show that the PTPN22 C1858T polymorphism is associated with vasculitis susceptibility, but does show that this polymorphism is associated with susceptibility to AAV, WG, and ANCA status in WG. | 0.000814326 | 2012 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs3743930 | 19026701 | 4210 | MEFV | umls:C0042384 | BeFree | We investigated a possible association between Kawasaki disease (KD), a systemic vasculitis of unknown etiology, or its coronary artery lesions (CAL) and MEFV gene variants including E148Q, the most common and mild mutation in the MEFV gene for familial Mediterranean fever or vasculitis-related disorders. | 0.003810118 | 2009 | MEFV | 16 | 3254626 | C | G |
rs6822844 | 21269573 | 59067 | IL21 | umls:C0042384 | BeFree | To assess the influence of the interleukin (IL)2-IL21 rs6822844 G/T polymorphism in the susceptibility to biopsy-proven giant cell arteritis (GCA) and in the clinical spectrum of manifestations of this vasculitis. | 0.000271442 | 2011 | NA | 4 | 122588266 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:44) | |||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
1 | 58452314 | rs4912290 | G | A | rs4912290 | 22808956 | 5.77E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | DAB1 |
2 | 204731519 | rs16840252 | C | T | rs16840252 | 22808956 | 1.28E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | CTLA4 |
3 | 191956119 | rs2126071 | G | A | rs2126071 | 22808956 | 4.96E-04 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | FGF12 |
4 | 71021940 | rs17148265 | T | C | rs17148265 | 22808956 | 1.47E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | C4orf40 |
5 | 86893820 | rs984026 | A | G | rs984026 | 22808956 | 1.02E-04 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
6 | 33069893 | rs3117242 | A | G | rs3117242 | 22808956 | 1.00E-71 | NA | 3.67 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | NA |
6 | 33095176 | rs3130233 | T | C | rs3130233 | 22808956 | 7.78E-15 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
6 | 33095516 | rs3117016 | G | A | rs3117016 | 22808956 | 6.41E-24 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | HLA-DPB2 |
6 | 89152479 | rs936495 | G | T | rs936495 | 22808956 | 2.46E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
6 | 130031493 | rs17057678 | T | C | rs17057678 | 22808956 | 6.00E-07 | NA | 1.25 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | NA |
6 | 150365343 | rs12207804 | G | C | rs12207804 | 22808956 | 3.45E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
8 | 134247127 | rs13263504 | G | A | rs13263504 | 22808956 | 6.05E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
8 | 136421680 | rs2873417 | G | A | rs2873417 | 22808956 | 2.17E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | G | NA |
9 | 7209284 | rs7020238 | T | C | rs7020238 | 22808956 | 6.76E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
9 | 13115422 | rs2274647 | T | G | rs2274647 | 22808956 | 7.42E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | MPDZ |
10 | 26663922 | rs4749119 | A | G | rs4749119 | 22808956 | 4.21E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
10 | 36060309 | rs11010290 | A | G | rs11010290 | 22808956 | 9.00E-06 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
11 | 20881437 | rs1429794 | A | G | rs1429794 | 22808956 | 3.59E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NELL1 |
11 | 89062444 | rs3897708 | C | T | rs3897708 | 22808956 | 1.57E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | NOX4 |
12 | 6170486 | rs12319392 | G | T | rs12319392 | 22808956 | 6.23E-04 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | VWF |
12 | 96159659 | rs11612530 | C | T | rs11612530 | 22808956 | 1.02E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NTN4 |
13 | 30885223 | rs185694 | A | G | rs185694 | 22808956 | 4.00E-06 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | NA |
13 | 45055091 | rs17065868 | T | C | rs17065868 | 22808956 | 3.00E-06 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | TSC22D1 |
13 | 56663210 | rs166940 | T | C | rs166940 | 22808956 | 2.32E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
14 | 94863636 | rs7151526 | C | A | rs7151526 | 22808956 | 2.00E-09 | NA | 1.69 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
17 | 44949100 | rs11079740 | G | C | rs11079740 | 22808956 | 9.00E-06 | NA | 1.1 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | G | WNT9B |
18 | 3328746 | rs1623523 | T | C | rs1623523 | 22808956 | 3.00E-06 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
18 | 55627840 | rs11875185 | A | G | rs11875185 | 22808956 | 7.00E-06 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | G | NA |
22 | 45738327 | rs2294202 | T | A | rs2294202 | 22808956 | 4.52E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | NA |
X | 3410669 | rs7059886 | A | G | rs7059886 | 22808956 | 1.00E-06 | NA | 1.16 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
X | 5184702 | rs6638512 | C | T | rs6638512 | 22808956 | 2.00E-25 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | T | NA |
X | 6134432 | rs16983988 | A | T | rs16983988 | 22808956 | 3.13E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NLGN4X |
X | 15180610 | rs6628825 | T | C | rs6628825 | 22808956 | 9.78E-06 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
X | 23804871 | rs873637 | T | C | rs873637 | 22808956 | 2.78E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
X | 89804127 | rs2755459 | A | G | rs2755459 | 22808956 | 9.00E-14 | NA | 1.67 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | G | NA |
X | 90812718 | rs6618677 | A | G | rs6618677 | 22808956 | 4.00E-08 | NA | 1.43 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
X | 109365260 | rs5985446 | A | T | rs5985446 | 22808956 | 1.08E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | TMEM164 |
X | 119867475 | rs1972809 | A | G | rs1972809 | 22808956 | 1.00E-24 | NA | 1.28 | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
X | 121575911 | rs982834 | T | C | rs982834 | 22808956 | 4.35E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | G | NA |
X | 127028955 | rs766417 | C | T | rs766417 | 22808956 | 1.46E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | NA |
X | 141360571 | rs5954596 | C | T | rs5954596 | 22808956 | 5.00E-09 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
X | 147042774 | rs5904818 | C | T | rs5904818 | 22808956 | 2.00E-08 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | C | NA |
X | 149624776 | rs2266831 | A | G | rs2266831 | 22808956 | 4.78E-05 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | G | MAMLD1 |
X | 154233774 | rs17281398 | A | G | rs17281398 | 22808956 | 4.00E-07 | NA | NA | NA | 914 European ancestry cases; 5,259 European ancestry controls | European(6173) | ALL(6173) | EUR(6173) | ALL(6173) | Antineutrophil cytoplasmic antibody-associated vasculitis | HPOID:0002633 | Vasculitis | DOID:865 | vasculitis | D056648 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | EFOID:0004826 | anti-neutrophil antibody associated vasculitis | Vasculitis | NA | Research Support, Non-U.S. Gov't | A | F8 |
Mapped by lexical matching(Total Items:1) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0001919 | Acute kidney injury | MP:0002135 | abnormal kidney morphology;HP:0002725 | Systemic lupus erythematosus |
Mapped by homologous gene(Total Items:1) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0100796 | Orchitis | MP:0002498 | abnormal acute inflammation;HP:0001919 | Acute kidney injury |
Chemical(Total Drugs:39) | |||||||||
---|---|---|---|---|---|---|---|---|---|
CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0042384 | amphetamine | D000661 | 300-62-9 | vasculitis | MESH:D014657 | marker/mechanism | 841359 | ||
C0042384 | betaxolol | D015784 | 63659-18-7 | vasculitis | MESH:D014657 | therapeutic | 1977670 | ||
C0042384 | carbimazole | D002231 | 22232-54-8 | vasculitis | MESH:D014657 | marker/mechanism | 1681385 | ||
C0042384 | cefotaxime | D002439 | 63527-52-6 | vasculitis | MESH:D014657 | marker/mechanism | 10803769 | ||
C0042384 | cimetidine | D002927 | 51481-61-9 | vasculitis | MESH:D014657 | marker/mechanism | 7241779 | ||
C0042384 | ciprofloxacin | D002939 | 85721-33-1 | vasculitis | MESH:D014657 | marker/mechanism | 11464656 | ||
C0042384 | cyclophosphamide | D003520 | 50-18-0 | vasculitis | MESH:D014657 | therapeutic | 1392448 | ||
C0042384 | dapsone | D003622 | 80-08-0 | vasculitis | MESH:D014657 | marker/mechanism | 16183407 | ||
C0042384 | cisplatin | D002945 | 15663-27-1 | vasculitis | MESH:D014657 | marker/mechanism | 11955656 | ||
C0042384 | enalapril | D004656 | 75847-73-3 | vasculitis | MESH:D014657 | marker/mechanism | 8453893 | ||
C0042384 | erythromycin | D004917 | 114-07-8 | vasculitis | MESH:D014657 | marker/mechanism | 2138443 | ||
C0042384 | fluoxetine | D005473 | 54910-89-3 | vasculitis | MESH:D014657 | marker/mechanism | 10868505 | ||
C0042384 | gemcitabine | C056507 | 103882-84-4 | vasculitis | MESH:D014657 | marker/mechanism | 11955656 | ||
C0042384 | glimepiride | C057619 | - | vasculitis | MESH:D014657 | marker/mechanism | 17324240 | ||
C0042384 | hydroxyurea | D006918 | 127-07-1 | vasculitis | MESH:D014657 | marker/mechanism | 9095664 | ||
C0042384 | imatinib mesylate | D000068877 | - | vasculitis | MESH:D014657 | marker/mechanism | 14576606 | ||
C0042384 | melphalan | D008558 | 148-82-3 | vasculitis | MESH:D014657 | marker/mechanism | 713003 | ||
C0042384 | methotrexate | D008727 | 1959/5/2 | vasculitis | MESH:D014657 | marker/mechanism | 1065218 | ||
C0042384 | nicotine | D009538 | - | vasculitis | MESH:D014657 | marker/mechanism | 8746358 | ||
C0042384 | nitroprusside | D009599 | 15078-28-1 | vasculitis | MESH:D014657 | marker/mechanism | 11549511 | ||
C0042384 | ofloxacin | D015242 | 82419-36-1 | vasculitis | MESH:D014657 | marker/mechanism | 2504412 | ||
C0042384 | peginterferon alfa-2a | C100416 | - | vasculitis | MESH:D014657 | marker/mechanism | 17898559 | ||
C0042384 | peginterferon alfa-2b | C417083 | - | vasculitis | MESH:D014657 | marker/mechanism | 16169782 | ||
C0042384 | phenindione | D010630 | 1983/12/5 | vasculitis | MESH:D014657 | marker/mechanism | 228409 | ||
C0042384 | pramipexole | C061333 | - | vasculitis | MESH:D014657 | marker/mechanism | 15638058 | ||
C0042384 | propylthiouracil | D011441 | 51-52-5 | vasculitis | MESH:D014657 | marker/mechanism | 10534640 | ||
C0042384 | quinine | D011803 | 130-95-0 | vasculitis | MESH:D014657 | marker/mechanism | 1457303 | ||
C0042384 | ramipril | D017257 | 87333-19-5 | vasculitis | MESH:D014657 | marker/mechanism | 14964753 | ||
C0042384 | ribavirin | D012254 | 36791-04-5 | vasculitis | MESH:D014657 | marker/mechanism | 16169782 | ||
C0042384 | rifampin | D012293 | 13292-46-1 | vasculitis | MESH:D014657 | marker/mechanism | 1493242 | ||
C0042384 | rofecoxib | C116926 | - | vasculitis | MESH:D014657 | marker/mechanism | 16225254 | ||
C0042384 | streptozocin | D013311 | 18883-66-4 | vasculitis | MESH:D014657 | marker/mechanism | 9131432 | ||
C0042384 | tacrolimus | D016559 | 109581-93-3 | vasculitis | MESH:D014657 | marker/mechanism | 20443058 | ||
C0042384 | temozolomide | C047246 | 85622-93-1 | vasculitis | MESH:D014657 | marker/mechanism | 15360003 | ||
C0042384 | thalidomide | D013792 | 50-35-1 | vasculitis | MESH:D014657 | marker/mechanism | 15550052 | ||
C0042384 | tretinoin | D014212 | 302-79-4 | vasculitis | MESH:D014657 | marker/mechanism | 10214877 | ||
C0042384 | trimethoprim | D014295 | 738-70-5 | vasculitis | MESH:D014657 | marker/mechanism | 1630995 | ||
C0042384 | vancomycin | D014640 | 1404-90-6 | vasculitis | MESH:D014657 | marker/mechanism | 2937155 | ||
C0042384 | zafirlukast | C062735 | 107753-78-6 | vasculitis | MESH:D014657 | marker/mechanism | 12189465 |
FDA approved drug and dosage information(Total Drugs:10) | ||||||||
---|---|---|---|---|---|---|---|---|
DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
MESH:D014657 | temodar | temozolomide | 5MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
MESH:D014657 | temodar | temozolomide | 100MG/VIAL | POWDER;INTRAVENOUS | Prescription | None | Yes | Yes |
MESH:D014657 | cipro | ciprofloxacin | 400MG/40ML (10MG/ML) | INJECTABLE;INJECTION | Discontinued | None | Yes | No |
MESH:D014657 | cipro | ciprofloxacin | 250MG/5ML | FOR SUSPENSION;ORAL | Prescription | AB | Yes | No |
MESH:D014657 | vioxx | rofecoxib | 12.5MG | TABLET;ORAL | Discontinued | None | No | No |
MESH:D014657 | vioxx | rofecoxib | 12.5MG/5ML | SUSPENSION;ORAL | Discontinued | None | No | No |
MESH:D014657 | vioxx | rofecoxib | 12.5MG | TABLET; ORAL | Discontinued | None | No | No |
MESH:D014657 | amaryl | glimepiride | 1MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
MESH:D014657 | gleevec | imatinib mesylate | EQ 50MG BASE Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | CAPSULE;ORAL | Discontinued | None | Yes | No |
MESH:D014657 | gleevec | imatinib mesylate | EQ 100MG BASE | TABLET;ORAL | Prescription | AB | Yes | No |
FDA labeling changes(Total Drugs:10) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
MESH:D014657 | 11/3/2003 | temodar | temozolomide | Recurrent CNS tumors | Temozolomide effectiveness in children has not been demonstrated New data from 2 open-label Phase 2 studies in pediatric patients 3-18 years of age. In one study there were 29 patients with recurrent brain stem glioma and 34 patients with recurrent high grade astrocyoma. In a second study there were 122 patients enrolled with various types of tumors; 113 CNS tumors and 9 non-CNS tumors. The temozolomide toxicity profile in children is similar to adults | Labeling | B | - | - | - | Schering | 11/20/2002 | FALSE' |
MESH:D014657 | 11/3/2003 | temodar | temozolomide | Recurrent CNS tumors | Temozolomide effectiveness in children has not been demonstrated New data from 2 open-label Phase 2 studies in pediatric patients 3-18 years of age. In one study there were 29 patients with recurrent brain stem glioma and 34 patients with recurrent high grade astrocyoma. In a second study there were 122 patients enrolled with various types of tumors; 113 CNS tumors and 9 non-CNS tumors. The temozolomide toxicity profile in children is similar to adults | Labeling | B | - | - | - | Schering | 11/20/2002 | FALSE' |
MESH:D014657 | 03/25/2004 | cipro | ciprofloxacin | Complicated UTI and pyelonephritis | Indicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1 17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1 17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectively | Labeling | B | - | - | - | Bayer | 12/18/2003 | FALSE' |
MESH:D014657 | 03/25/2004 | cipro | ciprofloxacin | Complicated UTI and pyelonephritis | Indicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1 17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1 17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectively | Labeling | B | - | - | - | Bayer | 12/18/2003 | FALSE' |
MESH:D014657 | 08/19/2004 | vioxx | rofecoxib | Pauciarticular or polyarticular course Juvenile Rheumatoid Arthritis | Merck announced a voluntary worldwide withdrawal of Vioxx (rofecoxib) due to safety concerns on September 30, 2004. | Labeling | B | - | - | - | Merck | 02/18/2004 | FALSE' |
MESH:D014657 | 08/19/2004 | vioxx | rofecoxib | Pauciarticular or polyarticular course Juvenile Rheumatoid Arthritis | Merck announced a voluntary worldwide withdrawal of Vioxx (rofecoxib) due to safety concerns on September 30, 2004. | Labeling | B | - | - | - | Merck | 02/18/2004 | FALSE' |
MESH:D014657 | 08/19/2004 | vioxx | rofecoxib | Pauciarticular or polyarticular course Juvenile Rheumatoid Arthritis | Merck announced a voluntary worldwide withdrawal of Vioxx (rofecoxib) due to safety concerns on September 30, 2004. | Labeling | B | - | - | - | Merck | 02/18/2004 | FALSE' |
MESH:D014657 | 11/28/2005 | amaryl | glimepiride | Type-2 Diabetes Mellitus | Data are insufficient to recommend pediatric use of glimepiride In an active-controlled, single-blind, 24-week trial, 272 pediatric patients aged 8 to 17 years with Type 2 diabetes were randomized to treatment with glimepiride or metformin. Trial suggested differences favoring metformin AE profile in the pediatric population was similar to that for adults Information on PK parameters | Labeling | - | - | B, P | - | Aventis | 9/6/2005 | FALSE' |
MESH:D014657 | 09/27/2006 | gleevec | imatinib mesylate | Treatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phase | Extended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patients | Labeling | - | - | B, P | - | Novartis | 9/6/2006 | FALSE' |
MESH:D014657 | 09/27/2006 | gleevec | imatinib mesylate | Treatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phase | Extended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patients | Labeling | - | - | B, P | - | Novartis | 9/6/2006 | FALSE' |