PedAM

Pediatric Disease Annotations & Medicines


	antiphospholipid syndrome

Disease ID	123
Disease	antiphospholipid syndrome
Definition	The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
Synonym	anti phospholipid antibody syndrome anti phospholipid syndrome anti phospholipids syndrome anti-phospholipid antibody syndrome anti-phospholipid syndrome antibody syndrome, anti-phospholipid antibody syndrome, antiphospholipid anticardiolipin syndrome antiphospholipid antibody syndrome antiphospholipid antibody syndromes antiphospholipid syndrome (disorder) antiphospholipid syndrome [disease/finding] antiphospholipids syndrome apl - antiphospholipid syndrome aps - antiphospholipid syndrome hughes syndrome syndrome, anti-phospholipid syndrome, anti-phospholipid antibody syndrome, antiphospholipid syndrome, antiphospholipid antibody syndrome, hughes
DOID	DOID:2988
ICD10	ICD10CM:D68.61
UMLS	C0085278
MeSH	D016736
SNOMED-CT	SNOMEDCT_US_2016_09_01:26843008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:110) C0040053 \| thrombosis \| 39 C0409974 \| lupus erythematosus \| 26 C0024141 \| systemic lupus erythematosus \| 25 C0000786 \| miscarriage \| 6 C0014118 \| endocarditis \| 6 C0000809 \| recurrent miscarriage \| 6 C0027051 \| myocardial infarct \| 5 C0035078 \| renal failure \| 5 C1565489 \| renal insufficiency \| 4 C0040034 \| thrombocytopenia \| 4 C0042384 \| vasculitis \| 4 C0001623 \| adrenal insufficiency \| 4 C0027051 \| myocardial infarction \| 4 C0162739 \| hellp syndrome \| 3 C0004153 \| atherosclerosis \| 3 C0009782 \| connective tissue disease \| 3 C0155626 \| acute myocardial infarction \| 3 C0034150 \| purpura \| 3 C0026272 \| mixed connective tissue disease \| 3 C0002871 \| anemia \| 3 C0020538 \| hypertension \| 3 C0000786 \| miscarriages \| 3 C0221390 \| nonbacterial thrombotic endocarditis \| 2 C0856761 \| budd-chiari syndrome \| 2 C0026975 \| myelitis \| 2 C0021053 \| immune disease \| 2 C0398623 \| hypercoagulable state \| 2 C0020542 \| pulmonary hypertension \| 2 C0002878 \| hemolytic anemia \| 2 C0034152 \| henoch-schonlein purpura \| 2 C0155765 \| microangiopathy \| 2 C0000809 \| recurrent miscarriages \| 2 C0001623 \| adrenal failure \| 2 C0000786 \| spontaneous abortion \| 2 C0041316 \| tuberculous lymphadenitis \| 2 C0035436 \| rheumatic fever \| 2 C0032914 \| preeclampsia \| 2 C0002880 \| autoimmune hemolytic anemia \| 2 C0034065 \| pulmonary embolism \| 2 C0024143 \| lupus nephritis \| 1 C0007766 \| cranial aneurysm \| 1 C0282492 \| sneddon syndrome \| 1 C0035328 \| retinal vein occlusion \| 1 C0442874 \| neuropathy \| 1 C0011644 \| scleroderma \| 1 C0031117 \| peripheral neuropathy \| 1 C0022116 \| ischaemia \| 1 C0948265 \| metabolic syndrome \| 1 C0155773 \| portal vein thrombosis \| 1 C0024299 \| lymphoma \| 1 C0018799 \| heart disease \| 1 C0272375 \| antithrombin deficiency \| 1 C0036421 \| systemic sclerosis \| 1 C0085655 \| polymyositis \| 1 C0037274 \| dermatosis \| 1 C0004134 \| ataxia \| 1 C0014544 \| epilepsy \| 1 C0000809 \| recurrent abortion \| 1 C0008313 \| sclerosing cholangitis \| 1 C0010072 \| coronary thrombosis \| 1 C0042769 \| virus infection \| 1 C0035302 \| retinal artery occlusion \| 1 C0022660 \| acute renal failure \| 1 C0018824 \| valvular heart disease \| 1 C0026269 \| mitral valve stenosis \| 1 C0553980 \| endomyocardial fibrosis \| 1 C0022116 \| ischemia \| 1 C0085650 \| purpura fulminans \| 1 C0002874 \| aplastic anemia \| 1 C0026896 \| myasthenia gravis \| 1 C0035920 \| rubella \| 1 C0566602 \| primary sclerosing cholangitis \| 1 C0027697 \| nephritis \| 1 C0002965 \| unstable angina pectoris \| 1 C0020514 \| hyperprolactinaemia \| 1 C0007688 \| central retinal artery occlusion \| 1 C0033975 \| psychosis \| 1 C0018213 \| graves' disease \| 1 C0037998 \| splenic infarction \| 1 C1145670 \| respiratory failure \| 1 C0018784 \| sensorineural hearing loss \| 1 C0021359 \| infertility \| 1 C0007785 \| cerebral infarcts \| 1 C0027051 \| myocardial infarcts \| 1 C0282492 \| sneddon's syndrome \| 1 C0154874 \| neuroretinitis \| 1 C0024205 \| lymphadenitis \| 1 C0022656 \| renal cortical necrosis \| 1 C0000809 \| recurrent abortions \| 1 C0020541 \| portal hypertension \| 1 C0398623 \| thrombophilia \| 1 C0242350 \| erectile dysfunction \| 1 C0013537 \| eclampsia \| 1 C0007570 \| celiac disease \| 1 C0152026 \| retinal vasculitis \| 1 C0272126 \| evans syndrome \| 1 C0040053 \| thrombus \| 1 C1527336 \| sjogren's syndrome \| 1 C0011633 \| dermatomyositis \| 1 C0154841 \| central retinal vein occlusion \| 1 C0004096 \| asthma \| 1 C0039263 \| takayasu arteritis \| 1 C0398623 \| hypercoagulability \| 1 C0007785 \| cerebral infarct \| 1 C0024115 \| pneumopathy \| 1 C0878544 \| cardiomyopathy \| 1 C0007766 \| intracranial aneurysm \| 1 C0007787 \| transient ischemic attack \| 1 C0026769 \| multiple sclerosis \| 1 C0002965 \| unstable angina \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 350 \| APOH \| infer 2162 \| F13A1 \| infer 2147 \| F2 \| infer 2153 \| F5 \| infer 2212 \| FCGR2A \| infer 3108 \| HLA-DMA \| infer 3109 \| HLA-DMB \| infer 3117 \| HLA-DQA1 \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 4524 \| MTHFR \| infer 5054 \| SERPINE1 \| infer 6775 \| STAT4 \| infer 7124 \| TNF \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:171) 100505854 \| APTR \| DISEASES 8935 \| SKAP2 \| DISEASES 79931 \| TNIP3 \| DISEASES 1361 \| CPB2 \| DISEASES 350 \| APOH \| DISEASES 3053 \| SERPIND1 \| DISEASES 9567 \| GTPBP1 \| DISEASES 10544 \| PROCR \| DISEASES 140733 \| MACROD2 \| DISEASES 51311 \| TLR8 \| DISEASES 2158 \| F9 \| DISEASES 7038 \| TG \| DISEASES 5327 \| PLAT \| DISEASES 8797 \| TNFRSF10A \| DISEASES 3191 \| HNRNPL \| DISEASES 973 \| CD79A \| DISEASES 7087 \| ICAM5 \| DISEASES 5444 \| PON1 \| DISEASES 5054 \| SERPINE1 \| DISEASES 7461 \| CLIP2 \| DISEASES 4353 \| MPO \| DISEASES 6347 \| CCL2 \| DISEASES 5197 \| PF4V1 \| DISEASES 1075 \| CTSC \| DISEASES 6404 \| SELPLG \| DISEASES 1432 \| MAPK14 \| DISEASES 7035 \| TFPI \| DISEASES 338 \| APOB \| DISEASES 5624 \| PROC \| DISEASES 5657 \| PRTN3 \| DISEASES 718 \| C3 \| DISEASES 2658 \| GDF2 \| DISEASES 348 \| APOE \| DISEASES 2161 \| F12 \| DISEASES 47 \| ACLY \| DISEASES 6737 \| TRIM21 \| DISEASES 23225 \| NUP210 \| DISEASES 1401 \| CRP \| DISEASES 301 \| ANXA1 \| DISEASES 967 \| CD63 \| DISEASES 3569 \| IL6 \| DISEASES 640 \| BLK \| DISEASES 27348 \| TOR1B \| DISEASES 7097 \| TLR2 \| DISEASES 6741 \| SSB \| DISEASES 7450 \| VWF \| DISEASES 11019 \| LIAS \| DISEASES 23495 \| TNFRSF13B \| DISEASES 51156 \| SERPINA10 \| DISEASES 3690 \| ITGB3 \| DISEASES 3674 \| ITGA2B \| DISEASES 3553 \| IL1B \| DISEASES 6403 \| SELP \| DISEASES 1656 \| DDX6 \| DISEASES 79594 \| MUL1 \| DISEASES 200576 \| PIKFYVE \| DISEASES 3383 \| ICAM1 \| DISEASES 3827 \| KNG1 \| DISEASES 2028 \| ENPEP \| DISEASES 311 \| ANXA11 \| DISEASES 2180 \| ACSL1 \| DISEASES 2321 \| FLT1 \| DISEASES 56896 \| DPYSL5 \| DISEASES 7412 \| VCAM1 \| DISEASES 2215 \| FCGR3B \| DISEASES 213 \| ALB \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 308 \| ANXA5 \| DISEASES 3673 \| ITGA2 \| DISEASES 4724 \| NDUFS4 \| DISEASES 27242 \| TNFRSF21 \| DISEASES 3562 \| IL3 \| DISEASES 4846 \| NOS3 \| DISEASES 10296 \| MAEA \| DISEASES 7804 \| LRP8 \| DISEASES 2815 \| GP9 \| DISEASES 1495 \| CTNNA1 \| DISEASES 81851 \| KRTAP1-1 \| DISEASES 2243 \| FGA \| DISEASES 2147 \| F2 \| DISEASES 5340 \| PLG \| DISEASES 389289 \| ANXA2R \| DISEASES 1776 \| DNASE1L3 \| DISEASES 1604 \| CD55 \| DISEASES 9377 \| COX5A \| DISEASES 7173 \| TPO \| DISEASES 55024 \| BANK1 \| DISEASES 5345 \| SERPINF2 \| DISEASES 2811 \| GP1BA \| DISEASES 6401 \| SELE \| DISEASES 2152 \| F3 \| DISEASES 114548 \| NLRP3 \| DISEASES 7189 \| TRAF6 \| DISEASES 445329 \| SULT1A4 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 3329 \| HSPD1 \| DISEASES 126364 \| LRRC25 \| DISEASES 653145 \| ANXA8 \| DISEASES 3386 \| ICAM4 \| DISEASES 6818 \| SULT1A3 \| DISEASES 10019 \| SH2B3 \| DISEASES 5359 \| PLSCR1 \| DISEASES 302 \| ANXA2 \| DISEASES 728 \| C5AR1 \| DISEASES 10438 \| C1D \| DISEASES 130013 \| ACMSD \| DISEASES 170685 \| NUDT10 \| DISEASES 8794 \| TNFRSF10C \| DISEASES 3663 \| IRF5 \| DISEASES 6775 \| STAT4 \| DISEASES 9652 \| TTC37 \| DISEASES 56980 \| PRDM10 \| DISEASES 728113 \| ANXA8L1 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 2157 \| F8 \| DISEASES 23294 \| ANKS1A \| DISEASES 7096 \| TLR1 \| DISEASES 23038 \| WDTC1 \| DISEASES 3075 \| CFH \| DISEASES 462 \| SERPINC1 \| DISEASES 2153 \| F5 \| DISEASES 6281 \| S100A10 \| DISEASES 117145 \| THEM4 \| DISEASES 2209 \| FCGR1A \| DISEASES 5406 \| PNLIP \| DISEASES 3654 \| IRAK1 \| DISEASES 1038 \| CDR1 \| DISEASES 959 \| CD40LG \| DISEASES 11093 \| ADAMTS13 \| DISEASES 7422 \| VEGFA \| DISEASES 958 \| CD40 \| DISEASES 2022 \| ENG \| DISEASES 7099 \| TLR4 \| DISEASES 7923 \| HSD17B8 \| DISEASES 3339 \| HSPG2 \| DISEASES 2159 \| F10 \| DISEASES 2155 \| F7 \| DISEASES 10673 \| TNFSF13B \| DISEASES 50943 \| FOXP3 \| DISEASES 1041 \| CDSN \| DISEASES 4524 \| MTHFR \| DISEASES 7056 \| THBD \| DISEASES 8718 \| TNFRSF25 \| DISEASES 1536 \| CYBB \| DISEASES 1059 \| CENPB \| DISEASES 51374 \| ATRAID \| DISEASES 8544 \| PIR \| DISEASES 3030 \| HADHA \| DISEASES 51284 \| TLR7 \| DISEASES 57486 \| NLN \| DISEASES 51378 \| ANGPT4 \| DISEASES 10333 \| TLR6 \| DISEASES 114899 \| C1QTNF3 \| DISEASES 83650 \| SLC35G5 \| DISEASES 361 \| AQP4 \| DISEASES 10274 \| STAG1 \| DISEASES 64400 \| AKTIP \| DISEASES 26173 \| INTS1 \| DISEASES 720 \| C4A \| DISEASES 7124 \| TNF \| DISEASES 4615 \| MYD88 \| DISEASES 133396 \| IL31RA \| DISEASES 56244 \| BTNL2 \| DISEASES 51428 \| DDX41 \| DISEASES 89795 \| NAV3 \| DISEASES 5228 \| PGF \| DISEASES 3949 \| LDLR \| DISEASES 7732 \| RNF112 \| DISEASES 6625 \| SNRNP70 \| DISEASES 100302740 \| FAS-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	123
Disease	antiphospholipid syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0004420 \| Arterial thrombosis HP:0001973 \| Autoimmune thrombocytopenia HP:0004936 \| Blood clot in vein
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:86) HP:0002725 \| Systemic lupus erythematosus \| 24 HP:0003613 \| Antiphospholipid antibodies \| 11 HP:0001907 \| Thromboembolic disease \| 9 HP:0000083 \| Renal insufficiency \| 9 HP:0100584 \| Endocarditis \| 6 HP:0001873 \| Low platelet count \| 5 HP:0000846 \| Hypoadrenalism \| 4 HP:0001658 \| Myocardial infarction \| 4 HP:0002633 \| Vasculitis \| 4 HP:0004936 \| Blood clot in vein \| 4 HP:0000822 \| Hypertension \| 3 HP:0001297 \| Cerebral vascular events \| 3 HP:0004943 \| Accelerated atherosclerosis \| 3 HP:0002621 \| Atherosclerosis \| 3 HP:0001903 \| Anemia \| 3 HP:0000979 \| Purpura \| 3 HP:0004419 \| Recurrent thrombosis \| 3 HP:0002960 \| Autoimmune condition \| 2 HP:0100724 \| Hypercoagulability \| 2 HP:0012089 \| Arteritis \| 2 HP:0003645 \| Delayed thromboplastin generation \| 2 HP:0002639 \| Budd-Chiari syndrome \| 2 HP:0001300 \| Parkinsonism \| 2 HP:0012486 \| Inflammation of spinal cord \| 2 HP:0004420 \| Arterial thrombosis \| 2 HP:0002204 \| Pulmonary embolism \| 2 HP:0005268 \| Spontaneous abortion \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0100602 \| Pre-eclampsia \| 2 HP:0001890 \| Autoimmune hemolytic anemia \| 2 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0001251 \| Ataxia \| 1 HP:0006702 \| Spontaneous coronary artery dissection \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0001685 \| Myocardial fibrosis \| 1 HP:0002326 \| TIA \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0001717 \| Coronary artery calcification \| 1 HP:0001409 \| Portal hypertension \| 1 HP:0001681 \| Angina pectoris \| 1 HP:0003281 \| Increased ferritin \| 1 HP:0100758 \| Gangrene \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0000789 \| Infertility \| 1 HP:0000802 \| Erectile dysfunction \| 1 HP:0002099 \| Asthma \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0002840 \| Lymphadenitis \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0004831 \| Recurrent thromboembolism \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0000709 \| Psychosis \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0002608 \| Celiac disease \| 1 HP:0000870 \| Hyperprolactinemia \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0001920 \| Renal artery stenosis \| 1 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0000722 \| Obsessive compulsive disorder \| 1 HP:0006685 \| Endocardial fibrosis \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0004850 \| Recurrent deep vein thrombosis \| 1 HP:0005203 \| Spontaneous esophageal rupture \| 1 HP:0100601 \| Eclampsia \| 1 HP:0011874 \| Heparin-induced thrombocytopenia \| 1 HP:0000123 \| Nephritis \| 1 HP:0001945 \| Fever \| 1 HP:0200067 \| Recurrent spontaneous abortion \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0002665 \| Lymphoma \| 1

Disease ID	123
Disease	antiphospholipid syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:100) C2700513 \| aplastic anemia C2632116 \| stenosis C2186530 \| kidney disease C1963274 \| vasculitis C1959600 \| endomyocardial fibrosis C1414497 \| factor x deficiency C1402315 \| vascular lesions C1393529 \| vascular complications C1290138 \| systemic sclerosis sine scleroderma C1288283 \| anetoderma C1281915 \| choroidal infarction C1279945 \| acute interstitial pneumonia C1142517 \| lupus anticoagulant C0948347 \| nephroangiosclerosis C0948089 \| acute coronary syndrome C0948008 \| ischemic stroke C0878544 \| cardiomyopathy C0856761 \| budd-chiari syndrome C0856169 \| endothelial dysfunction C0854142 \| aortic thrombosis C0850803 \| anaphylaxis C0752303 \| urological manifestations C0752303 \| urological manifestation C0700502 \| primary hypothyroidism C0679466 \| cognitive deficits C0587044 \| left ventricular thrombus C0564778 \| obstetrical complications C0553718 \| renal artery occlusion C0524702 \| pulmonary thromboembolism C0497327 \| dementia C0409974 \| lupus erythematosus C0398623 \| hypercoagulable state C0398623 \| hypercoagulability C0347888 \| superior mesenteric artery thrombosis C0343525 \| lemierre's syndrome C0343192 \| microscopic polyangiitis C0302148 \| thrombus C0272285 \| heparin-induced thrombocytopenia C0267373 \| intestinal bleeding C0265050 \| vena cava thrombosis C0265029 \| portal vein occlusion C0264882 \| tricuspid valve disease C0264490 \| acute respiratory failure C0242422 \| parkinsonism C0242380 \| libman-sacks endocarditis C0238309 \| ischemic neuropathy C0155773 \| portal vein thrombosis C0151945 \| cerebral venous thrombosis C0151942 \| arterial thrombosis C0151693 \| adrenal hemorrhage C0151693 \| adrenal haemorrhage C0087086 \| thrombi C0085096 \| peripheral vascular disease C0079102 \| cerebral thromboses C0043092 \| wegener's granulomatosis C0042769 \| virus infection C0042373 \| vascular disorders C0040188 \| tic disorders C0040053 \| thrombosis C0040038 \| thromboembolism C0040034 \| thrombocytopenia C0039263 \| takayasu's arteritis C0036421 \| systemic sclerosis C0035302 \| retinal artery occlusion C0035085 \| renal infarction C0035067 \| renal artery stenosis C0034150 \| purpura C0034065 \| pulmonary embolism C0032962 \| pregnancy complications C0030326 \| panniculitis C0027051 \| myocardial infarction C0026987 \| myelofibrosis C0026650 \| movement disorders C0024588 \| malignant hypertension C0024141 \| systemic lupus erythematosus C0023787 \| lipodystrophy C0023480 \| chronic myelomonocytic leukemia C0023443 \| hairy cell leukemia C0023223 \| leg ulcers C0022658 \| renal diseases C0022658 \| nephropathy C0022116 \| ischemia C0021308 \| infarction C0020635 \| hypopituitarism C0020514 \| hyperprolactinaemia C0019080 \| hemorrhage C0018784 \| sensorineural hearing loss C0014130 \| endocrine disorder C0013384 \| dyskinesia C0008312 \| primary biliary cirrhosis C0007787 \| transient ischemic attack C0003850 \| arteriosclerosis C0003507 \| aortic stenosis C0003504 \| aortic regurgitation C0002880 \| autoimmune hemolytic anemia C0001339 \| acute pancreatitis C0000809 \| recurrent miscarriage C0000786 \| spontaneous abortions C0000786 \| miscarriages C0000786 \| miscarriage
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:47) C0040053 \| thrombosis \| 37 C0409974 \| lupus erythematosus \| 22 C0024141 \| systemic lupus erythematosus \| 19 C0000809 \| recurrent miscarriage \| 6 C0021308 \| infarction \| 6 C0000786 \| miscarriage \| 6 C0040038 \| thromboembolism \| 5 C0042384 \| vasculitis \| 4 C0085240 \| lupus anticoagulant \| 4 C0019080 \| hemorrhage \| 3 C0027051 \| myocardial infarction \| 3 C0002792 \| anaphylaxis \| 3 C0242380 \| libman-sacks endocarditis \| 3 C0000786 \| miscarriages \| 3 C1402315 \| vascular lesions \| 3 C0242422 \| parkinsonism \| 2 C0009814 \| stenosis \| 2 C0034065 \| pulmonary embolism \| 2 C0151942 \| arterial thrombosis \| 2 C0034150 \| purpura \| 2 C0856761 \| budd-chiari syndrome \| 2 C0002880 \| autoimmune hemolytic anemia \| 2 C0040034 \| thrombocytopenia \| 2 C0042769 \| virus infection \| 1 C0553980 \| endomyocardial fibrosis \| 1 C0948008 \| ischemic stroke \| 1 C0524702 \| pulmonary thromboembolism \| 1 C0036421 \| systemic sclerosis \| 1 C0020514 \| hyperprolactinaemia \| 1 C0014130 \| endocrine disorder \| 1 C0040053 \| thrombus \| 1 C0264490 \| acute respiratory failure \| 1 C0022116 \| ischemia \| 1 C0752303 \| urological manifestations \| 1 C0002874 \| aplastic anemia \| 1 C0018784 \| sensorineural hearing loss \| 1 C0023223 \| leg ulcers \| 1 C0007787 \| transient ischemic attack \| 1 C0272285 \| heparin-induced thrombocytopenia \| 1 C1290138 \| systemic sclerosis sine scleroderma \| 1 C0398623 \| hypercoagulable state \| 1 C0155773 \| portal vein thrombosis \| 1 C0085584 \| encephalopathy \| 1 C0854142 \| aortic thrombosis \| 1 C0000809 \| recurrent abortion \| 1 C0032962 \| pregnancy complications \| 1 C0035085 \| renal infarction \| 1

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10774625	23844121	6311	ATXN2	umls:C0085278	BeFree	Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10(-4) OR 95% CI 1.84 (1.32-2.55)).	0.000271442	2013	ATXN2	12	111472415	A	G
rs3184504	23844121	6311	ATXN2	umls:C0085278	BeFree	Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10(-4) OR 95% CI 1.84 (1.32-2.55)).	0.000271442	2013	SH2B3	12	111446804	T	C
rs6104	17657675	5055	SERPINB2	umls:C0085278	BeFree	Genotype Ser413/Ser of PAI-2 polymorphism Ser413/Cys is associated with anti-phospholipid syndrome and systemic lupus erythematosus in a familial case: comparison with healthy controls.	0.005362824	2007	SERPINB2	18	63903295	C	G
rs653178	23844121	6311	ATXN2	umls:C0085278	BeFree	Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10(-4) OR 95% CI 1.84 (1.32-2.55)).	0.000271442	2013	ATXN2	12	111569952	C	T
rs7574865	19605742	6775	STAT4	umls:C0085278	GAD	[STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome.]	0.007101096	2009	STAT4	2	191099907	T	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:13)
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	67123057	rs6681460	A	G	rs6681460	23509613	7.00E-06	ACL	1.83	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	G	SGIP1
2	75790489	rs17011455	T	C	rs17011455	23509613	5.00E-06	LAC	5.21	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	T	FAM176A
2	161886103	rs2357982	C	G	rs2357982	23509613	3.00E-06	anti-B2 GPI	2.19	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	G	NA
2	180216731	rs13403289	C	A	rs13403289	23509613	6.00E-06	(ACL, LAC, or anti-B2 GPI)	2.42	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	C	NA
5	51706906	rs6889746	A	G	rs6889746	23509613	6.00E-06	ACL	1.78	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	A	NA
6	80156259	rs12204683	C	T	rs12204683	23509613	7.00E-06	ACL	1.88	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	C	NA
7	32189540	rs11975235	A	C	rs11975235	23509613	3.00E-06	anti-B2 GPI	2.14	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	A	PDE1C
13	40741907	rs9315762	C	T	rs9315762	23509613	7.00E-06	anti-B2 GPI	2.26	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	C	NA
13	109380726	rs10492418	A	C	rs10492418	23509613	2.00E-06	anti-B2 GPI	2.17	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	T	MYO16
16	80192605	rs8060581	G	C	rs8060581	23509613	1.00E-06	(ACL, LAC, or Anti-B2 GPI)	6.71	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	G	NA
20	16003406	rs6080100	T	C	rs6080100	23509613	7.00E-06	anti-B2 GPI	2.09	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	T	MACROD2
20	17566069	rs17791782	A	T	rs17791782	23509613	6.00E-06	LAC	2.63	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	A	DSTN
22	18448113	rs1978968	C	T	rs1978968	23509613	2.00E-06	LAC	2.24	NA	183 European ancestry ACL-positive cases; 487 European ancestry ACL-negative controls; 127 European ancestry LAC-positive cases; 581 European ancestry LAC-negative controls; 136 European ancestry Anti-B2GPI-positive cases; 360 European ancestry Anti-B2GPI-negative controls	European(1874)	ALL(1874)	EUR(1874)	ALL(1874)	Presence of antiphospholipid antibodies	HPOID:0003119	Abnormality of lipid metabolism	DOID:2988	antiphospholipid syndrome	NA	NA	NA	NA	Antiphospholipid syndrome	NA	NA	C	MICAL3

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:5)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0085278	ciprofloxacin	D002939	85721-33-1	antiphospholipid syndrome	MESH:D016736	therapeutic	9485080
C0085278	cyclophosphamide	D003520	50-18-0	antiphospholipid syndrome	MESH:D016736	therapeutic	15658543
C0085278	defibrotide	C036901	83712-60-1	antiphospholipid syndrome	MESH:D016736	therapeutic	12233899
C0085278	propylthiouracil	D011441	51-52-5	antiphospholipid syndrome	MESH:D016736	marker/mechanism	15822032
C0085278	thalidomide	D013792	50-35-1	antiphospholipid syndrome	MESH:D016736	therapeutic	15303578

FDA approved drug and dosage information(Total Drugs:2)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D016736	cipro	ciprofloxacin	400MG/40ML (10MG/ML)	INJECTABLE;INJECTION	Discontinued	None	Yes	No
MESH:D016736	cipro	ciprofloxacin	250MG/5ML	FOR SUSPENSION;ORAL	Prescription	AB	Yes	No

FDA labeling changes(Total Drugs:2)
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:D016736	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:D016736	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'

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