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	antiphospholipid syndrome

Disease ID	408
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:105) C0040053 \| thrombosis \| 36 C0409974 \| lupus erythematosus \| 25 C0024141 \| systemic lupus erythematosus \| 24 C0014118 \| endocarditis \| 6 C0035078 \| renal failure \| 5 C0027051 \| myocardial infarct \| 5 C0000786 \| miscarriage \| 5 C1565489 \| renal insufficiency \| 4 C0040034 \| thrombocytopenia \| 4 C0027051 \| myocardial infarction \| 4 C0001623 \| adrenal insufficiency \| 4 C0000809 \| recurrent miscarriage \| 4 C0042384 \| vasculitis \| 4 C0004153 \| atherosclerosis \| 3 C0034150 \| purpura \| 3 C0155626 \| acute myocardial infarction \| 3 C0162739 \| hellp syndrome \| 3 C0026272 \| mixed connective tissue disease \| 3 C0009782 \| connective tissue disease \| 3 C0002871 \| anemia \| 3 C0032914 \| preeclampsia \| 2 C0034152 \| henoch-schonlein purpura \| 2 C0020538 \| hypertension \| 2 C0001623 \| adrenal failure \| 2 C0035436 \| rheumatic fever \| 2 C0002878 \| hemolytic anemia \| 2 C0026975 \| myelitis \| 2 C0155765 \| microangiopathy \| 2 C0000786 \| spontaneous abortion \| 2 C0041316 \| tuberculous lymphadenitis \| 2 C0398623 \| hypercoagulable state \| 2 C0221390 \| nonbacterial thrombotic endocarditis \| 2 C0002880 \| autoimmune hemolytic anemia \| 2 C0000786 \| miscarriages \| 2 C0021053 \| immune disease \| 2 C0034065 \| pulmonary embolism \| 2 C0007570 \| celiac disease \| 1 C0010072 \| coronary thrombosis \| 1 C0026896 \| myasthenia gravis \| 1 C0031117 \| peripheral neuropathy \| 1 C0085655 \| polymyositis \| 1 C0018824 \| valvular heart disease \| 1 C0000809 \| recurrent abortion \| 1 C0022656 \| renal cortical necrosis \| 1 C0878544 \| cardiomyopathy \| 1 C0020542 \| pulmonary hypertension \| 1 C0152026 \| retinal vasculitis \| 1 C0272375 \| antithrombin deficiency \| 1 C0035302 \| retinal artery occlusion \| 1 C0026769 \| multiple sclerosis \| 1 C0022116 \| ischaemia \| 1 C0042769 \| virus infection \| 1 C0035328 \| retinal vein occlusion \| 1 C0002965 \| unstable angina pectoris \| 1 C0020514 \| hyperprolactinaemia \| 1 C0026269 \| mitral valve stenosis \| 1 C1145670 \| respiratory failure \| 1 C0037274 \| dermatosis \| 1 C0272126 \| evans syndrome \| 1 C0948265 \| metabolic syndrome \| 1 C0022660 \| acute renal failure \| 1 C0033975 \| psychosis \| 1 C0566602 \| primary sclerosing cholangitis \| 1 C0007688 \| central retinal artery occlusion \| 1 C1527336 \| sjogren's syndrome \| 1 C0007766 \| cranial aneurysm \| 1 C0036421 \| systemic sclerosis \| 1 C0085650 \| purpura fulminans \| 1 C0011633 \| dermatomyositis \| 1 C0020541 \| portal hypertension \| 1 C0035920 \| rubella \| 1 C0037998 \| splenic infarction \| 1 C0024115 \| pneumopathy \| 1 C0011644 \| scleroderma \| 1 C0007766 \| intracranial aneurysm \| 1 C0007787 \| transient ischemic attack \| 1 C0014544 \| epilepsy \| 1 C0018784 \| sensorineural hearing loss \| 1 C0856761 \| budd-chiari syndrome \| 1 C0022116 \| ischemia \| 1 C0398623 \| thrombophilia \| 1 C0018213 \| graves' disease \| 1 C0553980 \| endomyocardial fibrosis \| 1 C0004134 \| ataxia \| 1 C0008313 \| sclerosing cholangitis \| 1 C0442874 \| neuropathy \| 1 C0024299 \| lymphoma \| 1 C0018799 \| heart disease \| 1 C0021359 \| infertility \| 1 C0000809 \| recurrent abortions \| 1 C0398623 \| hypercoagulability \| 1 C0002965 \| unstable angina \| 1 C0002874 \| aplastic anemia \| 1 C0027051 \| myocardial infarcts \| 1 C0282492 \| sneddon syndrome \| 1 C0154841 \| central retinal vein occlusion \| 1 C0013537 \| eclampsia \| 1 C0155773 \| portal vein thrombosis \| 1 C0024143 \| lupus nephritis \| 1 C0040053 \| thrombus \| 1 C0004096 \| asthma \| 1 C0154874 \| neuroretinitis \| 1 C0242350 \| erectile dysfunction \| 1 C0282492 \| sneddon's syndrome \| 1 C0039263 \| takayasu arteritis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 350 \| APOH \| CIPHER 2162 \| F13A1 \| CIPHER 2147 \| F2 \| CIPHER 2153 \| F5 \| CIPHER 2212 \| FCGR2A \| CIPHER 3108 \| HLA-DMA \| CIPHER 3109 \| HLA-DMB \| CIPHER 3117 \| HLA-DQA1 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 4524 \| MTHFR \| CIPHER 5054 \| SERPINE1 \| CIPHER 6775 \| STAT4 \| CIPHER 7124 \| TNF \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:85) 130013 \| ACMSD \| 1.149 \| DISEASES 11093 \| ADAMTS13 \| 3.527 \| DISEASES 64400 \| AKTIP \| 1.493 \| DISEASES 51378 \| ANGPT4 \| 1.161 \| DISEASES 23294 \| ANKS1A \| 1.208 \| DISEASES 302 \| ANXA2 \| 4.608 \| DISEASES 653145 \| ANXA8 \| 1.101 \| DISEASES 728113 \| ANXA8L1 \| 1.085 \| DISEASES 100505854 \| APTR \| 2.126 \| DISEASES 361 \| AQP4 \| 1.197 \| DISEASES 51374 \| ATRAID \| 1.547 \| DISEASES 55024 \| BANK1 \| 1.769 \| DISEASES 56244 \| BTNL2 \| 2.174 \| DISEASES 10438 \| C1D \| 1.635 \| DISEASES 114899 \| C1QTNF3 \| 2.234 \| DISEASES 720 \| C4A \| 1.989 \| DISEASES 728 \| C5AR1 \| 1.803 \| DISEASES 958 \| CD40 \| 1.854 \| DISEASES 959 \| CD40LG \| 6.117 \| DISEASES 1038 \| CDR1 \| 1.969 \| DISEASES 1041 \| CDSN \| 1.642 \| DISEASES 1059 \| CENPB \| 1.254 \| DISEASES 3075 \| CFH \| 1.47 \| DISEASES 1536 \| CYBB \| 1.167 \| DISEASES 51428 \| DDX41 \| 4.615 \| DISEASES 2022 \| ENG \| 1.633 \| DISEASES 2159 \| F10 \| 2.953 \| DISEASES 2152 \| F3 \| 5.8 \| DISEASES 2153 \| F5 \| 2.615 \| DISEASES 2155 \| F7 \| 2.171 \| DISEASES 2157 \| F8 \| 1.212 \| DISEASES 100302740 \| FAS-AS1 \| 1.546 \| DISEASES 2209 \| FCGR1A \| 1.572 \| DISEASES 50943 \| FOXP3 \| 1.09 \| DISEASES 2811 \| GP1BA \| 2.265 \| DISEASES 3030 \| HADHA \| 1.606 \| DISEASES 3117 \| HLA-DQA1 \| 1.256 \| DISEASES 3123 \| HLA-DRB1 \| 1.505 \| DISEASES 7923 \| HSD17B8 \| 2.094 \| DISEASES 3329 \| HSPD1 \| 1.566 \| DISEASES 3339 \| HSPG2 \| 1.612 \| DISEASES 3386 \| ICAM4 \| 1.344 \| DISEASES 133396 \| IL31RA \| 5.659 \| DISEASES 26173 \| INTS1 \| 2.048 \| DISEASES 3654 \| IRAK1 \| 1.99 \| DISEASES 3663 \| IRF5 \| 1.771 \| DISEASES 3949 \| LDLR \| 1.19 \| DISEASES 126364 \| LRRC25 \| 1.055 \| DISEASES 4524 \| MTHFR \| 3.874 \| DISEASES 4615 \| MYD88 \| 1.786 \| DISEASES 89795 \| NAV3 \| 1.144 \| DISEASES 57486 \| NLN \| 1.116 \| DISEASES 114548 \| NLRP3 \| 1.32 \| DISEASES 170685 \| NUDT10 \| 1.61 \| DISEASES 5228 \| PGF \| 2.162 \| DISEASES 8544 \| PIR \| 1.691 \| DISEASES 5359 \| PLSCR1 \| 2.503 \| DISEASES 5406 \| PNLIP \| 1.628 \| DISEASES 56980 \| PRDM10 \| 1.048 \| DISEASES 7732 \| RNF112 \| 2.691 \| DISEASES 6281 \| S100A10 \| 2.216 \| DISEASES 6401 \| SELE \| 3.333 \| DISEASES 462 \| SERPINC1 \| 5.138 \| DISEASES 5345 \| SERPINF2 \| 2.61 \| DISEASES 10019 \| SH2B3 \| 1.175 \| DISEASES 83650 \| SLC35G5 \| 1.516 \| DISEASES 6625 \| SNRNP70 \| 1.683 \| DISEASES 10274 \| STAG1 \| 1.634 \| DISEASES 6775 \| STAT4 \| 1.825 \| DISEASES 6818 \| SULT1A3 \| 2.038 \| DISEASES 445329 \| SULT1A4 \| 2.063 \| DISEASES 7056 \| THBD \| 3.263 \| DISEASES 117145 \| THEM4 \| 1.396 \| DISEASES 7096 \| TLR1 \| 1.228 \| DISEASES 7099 \| TLR4 \| 3.319 \| DISEASES 10333 \| TLR6 \| 1.561 \| DISEASES 51284 \| TLR7 \| 1.664 \| DISEASES 7124 \| TNF \| 2.75 \| DISEASES 8794 \| TNFRSF10C \| 1.032 \| DISEASES 8718 \| TNFRSF25 \| 1.535 \| DISEASES 10673 \| TNFSF13B \| 1.552 \| DISEASES 7189 \| TRAF6 \| 1.069 \| DISEASES 9652 \| TTC37 \| 1.705 \| DISEASES 7422 \| VEGFA \| 1.632 \| DISEASES 23038 \| WDTC1 \| 1.493 \| DISEASES
Locus	(Waiting for update.)

Disease ID	408
Disease	antiphospholipid syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0001973 \| Autoimmune thrombocytopenia HP:0004420 \| Arterial thrombosis HP:0004936 \| Blood clot in vein
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:85) HP:0002725 \| Systemic lupus erythematosus \| 24 HP:0003613 \| Antiphospholipid antibodies \| 11 HP:0000083 \| Renal insufficiency \| 9 HP:0001907 \| Thromboembolic disease \| 9 HP:0100584 \| Endocarditis \| 6 HP:0001873 \| Low platelet count \| 5 HP:0002633 \| Vasculitis \| 4 HP:0001658 \| Myocardial infarction \| 4 HP:0000846 \| Hypoadrenalism \| 4 HP:0002621 \| Atherosclerosis \| 3 HP:0004943 \| Accelerated atherosclerosis \| 3 HP:0001903 \| Anemia \| 3 HP:0004419 \| Recurrent thrombosis \| 3 HP:0000979 \| Purpura \| 3 HP:0000822 \| Hypertension \| 3 HP:0001297 \| Cerebral vascular events \| 3 HP:0004936 \| Blood clot in vein \| 3 HP:0002639 \| Budd-Chiari syndrome \| 2 HP:0100602 \| Pre-eclampsia \| 2 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0012486 \| Inflammation of spinal cord \| 2 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0005268 \| Spontaneous abortion \| 2 HP:0004420 \| Arterial thrombosis \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0002204 \| Pulmonary embolism \| 2 HP:0003645 \| Delayed thromboplastin generation \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0012089 \| Arteritis \| 2 HP:0100724 \| Hypercoagulability \| 2 HP:0001890 \| Autoimmune hemolytic anemia \| 2 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0000722 \| Obsessive compulsive disorder \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0004831 \| Recurrent thromboembolism \| 1 HP:0001409 \| Portal hypertension \| 1 HP:0200067 \| Recurrent spontaneous abortion \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0100758 \| Gangrene \| 1 HP:0000789 \| Infertility \| 1 HP:0002326 \| TIA \| 1 HP:0002608 \| Celiac disease \| 1 HP:0001717 \| Coronary artery calcification \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0003281 \| Increased ferritin \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0002840 \| Lymphadenitis \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0001920 \| Renal artery stenosis \| 1 HP:0000709 \| Psychosis \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0006702 \| Spontaneous coronary artery dissection \| 1 HP:0006685 \| Endocardial fibrosis \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0000123 \| Nephritis \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0001681 \| Angina pectoris \| 1 HP:0002665 \| Lymphoma \| 1 HP:0005203 \| Spontaneous esophageal rupture \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0002099 \| Asthma \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0001685 \| Myocardial fibrosis \| 1 HP:0000870 \| Hyperprolactinemia \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0004850 \| Recurrent deep vein thrombosis \| 1 HP:0001945 \| Fever \| 1 HP:0100601 \| Eclampsia \| 1 HP:0000802 \| Erectile dysfunction \| 1 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0011874 \| Heparin-induced thrombocytopenia \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0001251 \| Ataxia \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0001638 \| Cardiomyopathy \| 1

Disease ID	408
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 \| 36 C0409974 \| lupus erythematosus \| 22 C0024141 \| systemic lupus erythematosus \| 19 C0000809 \| recurrent miscarriage \| 6 C0021308 \| infarction \| 6 C0000786 \| miscarriage \| 6 C0040038 \| thromboembolism \| 5 C0085240 \| lupus anticoagulant \| 4 C0042384 \| vasculitis \| 4 C0027051 \| myocardial infarction \| 3 C0000786 \| miscarriages \| 3 C0019080 \| hemorrhage \| 3 C0002792 \| anaphylaxis \| 3 C1402315 \| vascular lesions \| 3 C0242380 \| libman-sacks endocarditis \| 3 C0856761 \| budd-chiari syndrome \| 2 C0034150 \| purpura \| 2 C0002880 \| autoimmune hemolytic anemia \| 2 C0151942 \| arterial thrombosis \| 2 C0040034 \| thrombocytopenia \| 2 C0034065 \| pulmonary embolism \| 2 C0009814 \| stenosis \| 2 C0524702 \| pulmonary thromboembolism \| 1 C0022116 \| ischemia \| 1 C0023223 \| leg ulcers \| 1 C0242422 \| parkinsonism \| 1 C0040053 \| thrombus \| 1 C0155773 \| portal vein thrombosis \| 1 C0007787 \| transient ischemic attack \| 1 C0000809 \| recurrent abortion \| 1 C0020514 \| hyperprolactinaemia \| 1 C0014130 \| endocrine disorder \| 1 C0854142 \| aortic thrombosis \| 1 C0398623 \| hypercoagulable state \| 1 C0042769 \| virus infection \| 1 C0085584 \| encephalopathy \| 1 C0032962 \| pregnancy complications \| 1 C0553980 \| endomyocardial fibrosis \| 1 C0948008 \| ischemic stroke \| 1 C0036421 \| systemic sclerosis \| 1 C0035085 \| renal infarction \| 1 C0752303 \| urological manifestations \| 1 C0264490 \| acute respiratory failure \| 1 C0018784 \| sensorineural hearing loss \| 1 C0002874 \| aplastic anemia \| 1 C0272285 \| heparin-induced thrombocytopenia \| 1 C1290138 \| systemic sclerosis sine scleroderma \| 1

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

Text Mining Genotype(Total 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:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001973	Autoimmune thrombocytopenia	MP:0003179	thrombocytopenia	fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation
HP:0004420	Arterial thrombosis	MP:0005048	thrombosis	formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004936	Venous thrombosis	MP:0014166	ectopic cranial bone	the appearance of an extra bone structure at an atypical location in or near the cranium
HP:0001973	Autoimmune thrombocytopenia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0004420	Arterial thrombosis	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci

Disease ID	408
Disease	antiphospholipid syndrome
Case	(Waiting for update.)

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