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	abdominal aortic aneurysm

Disease ID	287
Disease	abdominal aortic aneurysm
Definition	An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm.
Synonym	aaa - abdominal aortic aneurysm abdominal aneurysm abdominal aneurysms abdominal aorta aneurysm abdominal aortic aneurysm (aaa) abdominal aortic aneurysm (disorder) abdominal aortic aneurysms aneurysm abdominal aneurysm of abdominal aorta aneurysm, abdominal aortic aneurysm, aorta, abdominal aneurysms, abdominal aortic aortic aneurysm, abdominal aortic aneurysm, abdominal [disease/finding] aortic aneurysms, abdominal
OMIM	OMIM:100070
DOID	DOID:7693
UMLS	C0162871
MeSH	D017544
SNOMED-CT	SNOMEDCT_US_2016_09_01:233985008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:92) C0040053 \| thrombus \| 15 C0009492 \| compartment syndrome \| 6 C0007113 \| rectal cancer \| 4 C0003486 \| aortic aneurysm \| 4 C0010068 \| coronary artery disease \| 4 C0018799 \| heart disease \| 3 C0022116 \| ischemia \| 3 C0028754 \| obesity \| 3 C0009402 \| colorectal cancer \| 3 C1565489 \| renal insufficiency \| 3 C0030486 \| paraplegia \| 3 C0040053 \| thrombosis \| 3 C1510471 \| hypovitaminosis \| 2 C0022658 \| kidney disease \| 2 C0035579 \| hypovitaminosis d \| 2 C0022658 \| renal disease \| 2 C0022661 \| chronic kidney disease \| 2 C0011847 \| diabetes \| 2 C0004943 \| behcet disease \| 2 C0035078 \| renal failure \| 2 C0162872 \| thoracic aortic aneurysm \| 2 C0020538 \| hypertension \| 2 C0005684 \| bladder cancer \| 2 C0852949 \| arterial disease \| 2 C0042373 \| vascular disease \| 2 C0019294 \| inguinal hernia \| 2 C0039263 \| takayasu arteritis \| 1 C0022661 \| end-stage renal disease \| 1 C0010068 \| coronary heart disease \| 1 C0600260 \| obstructive pulmonary disease \| 1 C0037933 \| spinal diseases \| 1 C0020538 \| vascular hypertension \| 1 C0007273 \| carotid artery disease \| 1 C0028754 \| adiposity \| 1 C0024115 \| pulmonary disease \| 1 C0012624 \| spondylodiscitis \| 1 C0003486 \| aortic aneurysms \| 1 C0003509 \| aortitis \| 1 C0178879 \| obstructive uropathy \| 1 C0003972 \| atherosclerotic cardiovascular disease \| 1 C0014121 \| infective endocarditis \| 1 C0032285 \| pneumonia \| 1 C0027051 \| myocardial infarction \| 1 C0026946 \| fungal infection \| 1 C0010068 \| coronary disease \| 1 C0153452 \| gallbladder ca \| 1 C0024796 \| marfan syndrome \| 1 C0014118 \| endocarditis \| 1 C0029443 \| osteomyelitis \| 1 C0398623 \| hypercoagulability \| 1 C0520679 \| obstructive sleep apnea \| 1 C0037315 \| sleep apnea \| 1 C0004096 \| bronchial asthma \| 1 C0030305 \| pancreatitis \| 1 C1145670 \| respiratory failure \| 1 C0032285 \| pneumoniae \| 1 C0023860 \| listeriosis \| 1 C0162872 \| thoracic aortic aneurysms \| 1 C0003850 \| arteriosclerosis \| 1 C0004096 \| asthma \| 1 C0403447 \| chronic renal insufficiency \| 1 C0016057 \| fibrosarcoma \| 1 C0037933 \| spinal disease \| 1 C0020445 \| familial hypercholesterolemia \| 1 C0153452 \| gallbladder cancer \| 1 C0042075 \| uropathy \| 1 C0027051 \| myocardial infarct \| 1 C0023448 \| lymphocytic leukemia \| 1 C0007766 \| cranial aneurysm \| 1 C0553576 \| systemic fungal infection \| 1 C0020456 \| hyperglycemia \| 1 C0206368 \| exfoliation syndrome \| 1 C0085096 \| peripheral vascular disease \| 1 C0007282 \| carotid artery stenosis \| 1 C0007766 \| intracranial aneurysms \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0012739 \| disseminated intravascular coagulation (dic) \| 1 C0004153 \| atherosclerosis \| 1 C0024117 \| chronic obstructive pulmonary disease \| 1 C0007222 \| cardiovascular disease \| 1 C0162529 \| ischemic colitis \| 1 C1704436 \| peripheral arterial disease \| 1 C0007766 \| intracranial aneurysm \| 1 C0011860 \| type 2 diabetes \| 1 C0009319 \| colitis \| 1 C0010051 \| coronary artery aneurysm \| 1 C0008350 \| cholelithiasis \| 1 C0206368 \| pseudoexfoliation syndrome \| 1 C0020545 \| renovascular hypertension \| 1 C0012739 \| disseminated intravascular coagulation \| 1 C0042769 \| virus infection \| 1 C0031511 \| pheochromocytoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) 100048912 \| CDKN2B-AS1 \| GWASCAT 183 \| AGT \| CTD_human 6648 \| SOD2 \| CTD_human 4318 \| MMP9 \| CTD_human 653361 \| NCF1 \| CTD_human 5743 \| PTGS2 \| CTD_human 3949 \| LDLR \| GWASCAT 4035 \| LRP1 \| GWASCAT 185 \| AGTR1 \| CTD_human 4323 \| MMP14 \| CTD_human 153090 \| DAB2IP \| CTD_human;GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:50) 1281 \| COL3A1 \| CIPHER 2006 \| ELN \| CIPHER 2099 \| ESR1 \| CIPHER 2100 \| ESR2 \| CIPHER 3117 \| HLA-DQA1 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3125 \| HLA-DRB3 \| CIPHER 3126 \| HLA-DRB4 \| CIPHER 3127 \| HLA-DRB5 \| CIPHER 3162 \| HMOX1 \| CIPHER 3339 \| HSPG2 \| CIPHER 4052 \| LTBP1 \| CIPHER 4054 \| LTBP3 \| CIPHER 8425 \| LTBP4 \| CIPHER 4312 \| MMP1 \| CIPHER 4319 \| MMP10 \| CIPHER 4321 \| MMP12 \| CIPHER 4322 \| MMP13 \| CIPHER 4313 \| MMP2 \| CIPHER 4314 \| MMP3 \| CIPHER 4318 \| MMP9 \| CIPHER;CTD_human 4524 \| MTHFR \| CIPHER 4846 \| NOS3 \| CIPHER 5241 \| PGR \| CIPHER 5054 \| SERPINE1 \| CIPHER 6696 \| SPP1 \| CIPHER 7040 \| TGFB1 \| CIPHER 7043 \| TGFB3 \| CIPHER 7046 \| TGFBR1 \| CIPHER 7048 \| TGFBR2 \| CIPHER 7076 \| TIMP1 \| CIPHER 7077 \| TIMP2 \| CIPHER 7078 \| TIMP3 \| CIPHER 1462 \| VCAN \| CIPHER 7941 \| PLA2G7 \| CIPHER 1636 \| ACE \| CIPHER 183 \| AGT \| CIPHER;CTD_human 185 \| AGTR1 \| CIPHER;CTD_human 153090 \| DAB2IP \| CIPHER;CTD_human 10516 \| FBLN5 \| CIPHER 3586 \| IL10 \| CIPHER 3553 \| IL1B \| CIPHER 3569 \| IL6 \| CIPHER 4035 \| LRP1 \| CIPHER 64131 \| XYLT1 \| CIPHER 6648 \| SOD2 \| CTD_human 4323 \| MMP14 \| CTD_human 5743 \| PTGS2 \| CTD_human 653361 \| NCF1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:110) 92949 \| ADAMTSL1 \| 2.12 \| DISEASES 9447 \| AIM2 \| 1.132 \| DISEASES 240 \| ALOX5 \| 1.913 \| DISEASES 10189 \| ALYREF \| 1.748 \| DISEASES 10123 \| ARL4C \| 1.738 \| DISEASES 23192 \| ATG4B \| 1.2 \| DISEASES 10159 \| ATP6AP2 \| 1.061 \| DISEASES 633 \| BGN \| 2.006 \| DISEASES 92346 \| C1orf105 \| 3.149 \| DISEASES 731 \| C8A \| 1.786 \| DISEASES 732 \| C8B \| 1.457 \| DISEASES 23705 \| CADM1 \| 1.055 \| DISEASES 834 \| CASP1 \| 1.397 \| DISEASES 831 \| CAST \| 1.018 \| DISEASES 6355 \| CCL8 \| 1.14 \| DISEASES 959 \| CD40LG \| 1.127 \| DISEASES 100048912 \| CDKN2B-AS1 \| 1.321 \| DISEASES 1153 \| CIRBP \| 1.055 \| DISEASES 1282 \| COL4A1 \| 1.06 \| DISEASES 1379 \| CR1L \| 2.429 \| DISEASES 1471 \| CST3 \| 2.657 \| DISEASES 1508 \| CTSB \| 1.54 \| DISEASES 1520 \| CTSS \| 3.374 \| DISEASES 2919 \| CXCL1 \| 1.003 \| DISEASES 1536 \| CYBB \| 1.473 \| DISEASES 8528 \| DDO \| 1.63 \| DISEASES 26052 \| DNM3 \| 1.319 \| DISEASES 50506 \| DUOX2 \| 1.805 \| DISEASES 11221 \| DUSP10 \| 1.084 \| DISEASES 1906 \| EDN1 \| 1.685 \| DISEASES 55556 \| ENOSF1 \| 1.56 \| DISEASES 11336 \| EXOC3 \| 1.797 \| DISEASES 2152 \| F3 \| 2.263 \| DISEASES 2155 \| F7 \| 1.272 \| DISEASES 10516 \| FBLN5 \| 2.259 \| DISEASES 2200 \| FBN1 \| 2.154 \| DISEASES 2317 \| FLNB \| 1.394 \| DISEASES 4303 \| FOXO4 \| 2.715 \| DISEASES 441581 \| FRG2B \| 1.39 \| DISEASES 2879 \| GPX4 \| 3.337 \| DISEASES 3039 \| HBA1 \| 1.224 \| DISEASES 3055 \| HCK \| 2.136 \| DISEASES 3146 \| HMGB1 \| 1.889 \| DISEASES 3240 \| HP \| 2.16 \| DISEASES 3586 \| IL10 \| 2.558 \| DISEASES 3570 \| IL6R \| 1.426 \| DISEASES 3684 \| ITGAM \| 1.9 \| DISEASES 3725 \| JUN \| 1.218 \| DISEASES 283212 \| KLHL35 \| 2.245 \| DISEASES 3949 \| LDLR \| 2.458 \| DISEASES 100506622 \| LINC00540 \| 2.829 \| DISEASES 4018 \| LPA \| 1.225 \| DISEASES 5599 \| MAPK8 \| 1.972 \| DISEASES 65108 \| MARCKSL1 \| 1.431 \| DISEASES 4237 \| MFAP2 \| 2.17 \| DISEASES 4239 \| MFAP4 \| 2.264 \| DISEASES 4312 \| MMP1 \| 3.407 \| DISEASES 4318 \| MMP9 \| 5.227 \| DISEASES 4522 \| MTHFD1 \| 1.354 \| DISEASES 4524 \| MTHFR \| 2.362 \| DISEASES 10903 \| MTMR11 \| 1.916 \| DISEASES 136319 \| MTPN \| 2.269 \| DISEASES 4586 \| MUC5AC \| 1.592 \| DISEASES 347273 \| MURC \| 1.782 \| DISEASES 4650 \| MYO9B \| 1.019 \| DISEASES 404744 \| NPSR1-AS1 \| 3.013 \| DISEASES 63935 \| PCIF1 \| 2.136 \| DISEASES 57649 \| PHF12 \| 2.295 \| DISEASES 5320 \| PLA2G2A \| 1.24 \| DISEASES 5328 \| PLAU \| 1.899 \| DISEASES 145270 \| PRIMA1 \| 1.369 \| DISEASES 5563 \| PRKAA2 \| 1.043 \| DISEASES 158471 \| PRUNE2 \| 1.349 \| DISEASES 374308 \| PTCHD3 \| 1.434 \| DISEASES 9536 \| PTGES \| 2.101 \| DISEASES 5743 \| PTGS2 \| 1.634 \| DISEASES 5788 \| PTPRC \| 1.498 \| DISEASES 5813 \| PURA \| 1.788 \| DISEASES 5831 \| PYCR1 \| 1.372 \| DISEASES 7955 \| RNF217-AS1 \| 1.503 \| DISEASES 6238 \| RRBP1 \| 1.395 \| DISEASES 388015 \| RTL1 \| 1.242 \| DISEASES 22908 \| SACM1L \| 1.402 \| DISEASES 6401 \| SELE \| 1.276 \| DISEASES 5265 \| SERPINA1 \| 1.963 \| DISEASES 5104 \| SERPINA5 \| 2.939 \| DISEASES 462 \| SERPINC1 \| 2.939 \| DISEASES 5345 \| SERPINF2 \| 2.133 \| DISEASES 51460 \| SFMBT1 \| 1.19 \| DISEASES 6512 \| SLC1A7 \| 1.183 \| DISEASES 23443 \| SLC35A3 \| 1.378 \| DISEASES 23583 \| SMUG1 \| 2.387 \| DISEASES 56950 \| SMYD2 \| 1.089 \| DISEASES 9751 \| SNPH \| 1.577 \| DISEASES 6696 \| SPP1 \| 2.791 \| DISEASES 10948 \| STARD3 \| 1.14 \| DISEASES 126668 \| TDRD10 \| 2.836 \| DISEASES 7046 \| TGFBR1 \| 2.09 \| DISEASES 7048 \| TGFBR2 \| 2.365 \| DISEASES 7056 \| THBD \| 2.167 \| DISEASES 7099 \| TLR4 \| 1.121 \| DISEASES 7124 \| TNF \| 2.626 \| DISEASES 7137 \| TNNI3 \| 2.124 \| DISEASES 706 \| TSPO \| 1.137 \| DISEASES 7422 \| VEGFA \| 1.974 \| DISEASES 164684 \| WBP2NL \| 1.176 \| DISEASES 23038 \| WDTC1 \| 1.037 \| DISEASES 644150 \| WIPF3 \| 1.649 \| DISEASES 53349 \| ZFYVE1 \| 1.353 \| DISEASES 63925 \| ZNF335 \| 2.027 \| DISEASES
Locus	(Waiting for update.)

Disease ID	287
Disease	abdominal aortic aneurysm
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0004953 \| Abdominal aortic aneurysm
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:74) HP:0002617 \| Aneurysmal dilatation \| 37 HP:0000085 \| Horseshoe kidney \| 8 HP:0002647 \| Aortic dissection \| 6 HP:0000083 \| Renal insufficiency \| 6 HP:0001677 \| Coronary artery disease \| 5 HP:0003418 \| Back pain \| 4 HP:0005200 \| Retroperitoneal fibrosis \| 4 HP:0012531 \| Pain \| 4 HP:0004942 \| Aortic aneurysm \| 4 HP:0001513 \| Obesity \| 3 HP:0003419 \| Low back pain \| 3 HP:0100790 \| Hernia \| 3 HP:0000107 \| Renal cyst \| 3 HP:0010550 \| Paraplegia \| 3 HP:0012727 \| Thoracic aortic aneurysm \| 2 HP:0000023 \| Inguinal hernia \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0004947 \| Arteriovenous fistula \| 2 HP:0000086 \| Ectopic kidney \| 2 HP:0012622 \| Chronic kidney disease \| 2 HP:0002027 \| Abdominal pain \| 2 HP:0000822 \| Hypertension \| 2 HP:0002621 \| Atherosclerosis \| 2 HP:0003256 \| Coagulopathy \| 2 HP:0012627 \| Pseudoexfoliation \| 2 HP:0000470 \| Decreased cervical height \| 2 HP:0009725 \| Bladder neoplasm \| 2 HP:0003774 \| End-stage renal failure \| 2 HP:0005206 \| Pancreatic pseudocyst \| 1 HP:0002664 \| Neoplasia \| 1 HP:0000125 \| Pelvic kidney \| 1 HP:0005521 \| Disseminated intravascular coagulation \| 1 HP:0100244 \| Fibrosarcoma \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0004950 \| Peripheral artery disease \| 1 HP:0002583 \| Colitis \| 1 HP:0011854 \| Hemoperitoneum \| 1 HP:0100546 \| Narrowing of carotid artery \| 1 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0100584 \| Endocarditis \| 1 HP:0002045 \| Abnormally low body temperature \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0002634 \| Arteriosclerosis \| 1 HP:0003074 \| High blood glucose \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002754 \| Bone infection \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001081 \| Gallstones \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0005520 \| Chronic disseminated intravascular coagulation \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0100796 \| Orchitis \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0011106 \| Depleted blood volume \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0100817 \| Renovascular hypertension \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0002099 \| Asthma \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0000016 \| Urinary retention \| 1 HP:0030838 \| Hip pain \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0012393 \| Allergy \| 1 HP:0012089 \| Arteritis \| 1 HP:0004736 \| Crossed fused renal ectopia \| 1 HP:0002615 \| Low blood pressure \| 1

Disease ID	287
Disease	abdominal aortic aneurysm
Manually Symptom	UMLS \| Name(Total Manually Symptoms:42) C2598155 \| pain C2364133 \| infection C2188545 \| anuria C2046121 \| aortic dissection C2004435 \| intestinal ischemia C1963138 \| hypertension C1961100 \| erectile dysfunction C1956346 \| coronary artery disease C1839611 \| n syndrome C1550639 \| fistula C1260883 \| mural thrombus C1096584 \| chlamydia pneumoniae infection C0752130 \| spinal cord ischemia C0684249 \| lung cancer C0598608 \| hyperhomocysteinemia C0345050 \| annulo-aortic ectasia C0302148 \| thrombus C0265008 \| aortocaval fistula C0242966 \| systemic inflammatory response syndrome (sirs) C0242339 \| dyslipidemia C0235886 \| leg edema C0235632 \| loin pain C0162870 \| iliac aneurysm C0162529 \| ischemic colitis C0087086 \| thrombi C0040053 \| thrombosis C0036690 \| septicemia C0036117 \| salmonellosis C0035067 \| renal artery stenosis C0032285 \| pneumoniae C0020473 \| hyperlipidemia C0019270 \| hernias C0019270 \| hernia C0013292 \| duodenal obstruction C0012739 \| disseminated intravascular coagulation C0012739 \| consumption coagulopathy C0011168 \| dysphagia C0010068 \| coronary disease C0008350 \| cholelithiasis C0004153 \| atherosclerosis C0004153 \| atheromatosis C0002940 \| aneurysms
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:20) C0016169 \| fistula \| 15 C0040053 \| thrombus \| 13 C0265008 \| aortocaval fistula \| 10 C0002940 \| aneurysms \| 6 C0030193 \| pain \| 4 C0340643 \| aortic dissection \| 4 C0009450 \| infection \| 3 C0019270 \| hernia \| 3 C0010068 \| coronary artery disease \| 3 C0333205 \| mural thrombus \| 3 C0040053 \| thrombosis \| 2 C0752130 \| spinal cord ischemia \| 2 C0162870 \| iliac aneurysm \| 2 C0020538 \| hypertension \| 2 C0032285 \| pneumoniae \| 1 C0012739 \| disseminated intravascular coagulation \| 1 C0008350 \| cholelithiasis \| 1 C1839611 \| n syndrome \| 1 C0004153 \| atherosclerosis \| 1 C0162529 \| ischemic colitis \| 1

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

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

All Snps(Total Genotypes:26)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1466535	24423473	169026	SLC30A8	umls:C0162871	BeFree	Association of rs1466535 LRP1 but not rs3019885 SLC30A8 and rs6674171 TDRD10 gene polymorphisms with abdominal aortic aneurysm in Italian patients.	0.000271442	2013	LRP1	12	57140687	G	A
rs1466535	22055160	4035	LRP1	umls:C0162871	GWASCAT	Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.	0.123724241	2011	LRP1	12	57140687	G	A
rs1466535	22055160	4035	LRP1	umls:C0162871	GAD	[Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.]	0.123724241	2011	LRP1	12	57140687	G	A
rs1466535	25238221	4035	LRP1	umls:C0162871	BeFree	An association between rs1466535 low density lipoprotein receptor-related protein 1 (LRP1) gene polymorphism and abdominal aortic aneurysm (AAA) was recently demonstrated.	0.123724241	2014	LRP1	12	57140687	G	A
rs1466535	24423473	126668	TDRD10	umls:C0162871	BeFree	Association of rs1466535 LRP1 but not rs3019885 SLC30A8 and rs6674171 TDRD10 gene polymorphisms with abdominal aortic aneurysm in Italian patients.	0.000271442	2013	LRP1	12	57140687	G	A
rs151129007	22094117	4313	MMP2	umls:C0162871	BeFree	In a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI .34-.85], P < .007) and G1355A ELN (OR = 0.64 ([95% CI .41-.99], P = .046) polymorphisms resulted in independent protective factors for abdominal aortic aneurysm (AAA), whereas 5A/6A MMP3 (OR = 1.82 [95% CI 1.04-3.12], P = .034) and -77 A/G MMP-13 (OR = 2.14 [95% CI 1.18-3.86], P = .012) polymorphisms resulted in independent risk factors for AAA.	0.092182547	2012	MMP2	16	55481799	A	G
rs151129007	22094117	4314	MMP3	umls:C0162871	BeFree	In a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI .34-.85], P < .007) and G1355A ELN (OR = 0.64 ([95% CI .41-.99], P = .046) polymorphisms resulted in independent protective factors for abdominal aortic aneurysm (AAA), whereas 5A/6A MMP3 (OR = 1.82 [95% CI 1.04-3.12], P = .034) and -77 A/G MMP-13 (OR = 2.14 [95% CI 1.18-3.86], P = .012) polymorphisms resulted in independent risk factors for AAA.	0.092649486	2012	MMP2	16	55481799	A	G
rs151129007	22094117	2006	ELN	umls:C0162871	BeFree	In a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI .34-.85], P < .007) and G1355A ELN (OR = 0.64 ([95% CI .41-.99], P = .046) polymorphisms resulted in independent protective factors for abdominal aortic aneurysm (AAA), whereas 5A/6A MMP3 (OR = 1.82 [95% CI 1.04-3.12], P = .034) and -77 A/G MMP-13 (OR = 2.14 [95% CI 1.18-3.86], P = .012) polymorphisms resulted in independent risk factors for AAA.	0.086167218	2012	MMP2	16	55481799	A	G
rs151129007	22094117	4322	MMP13	umls:C0162871	BeFree	In a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI .34-.85], P < .007) and G1355A ELN (OR = 0.64 ([95% CI .41-.99], P = .046) polymorphisms resulted in independent protective factors for abdominal aortic aneurysm (AAA), whereas 5A/6A MMP3 (OR = 1.82 [95% CI 1.04-3.12], P = .034) and -77 A/G MMP-13 (OR = 2.14 [95% CI 1.18-3.86], P = .012) polymorphisms resulted in independent risk factors for AAA.	0.002909916	2012	MMP2	16	55481799	A	G
rs2228145	23593036	3569	IL6	umls:C0162871	BeFree	Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A>C) is associated with the risk of several common diseases, with the 358Ala allele conferring protection from coronary heart disease (CHD), rheumatoid arthritis (RA), atrial fibrillation (AF), abdominal aortic aneurysm (AAA), and increased susceptibility to asthma, the variant's effect on IL-6 signaling is not known.	0.021279544	2013	IL6R	1	154454494	A	C,T
rs2228145	23593036	3570	IL6R	umls:C0162871	BeFree	Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A>C) is associated with the risk of several common diseases, with the 358Ala allele conferring protection from coronary heart disease (CHD), rheumatoid arthritis (RA), atrial fibrillation (AF), abdominal aortic aneurysm (AAA), and increased susceptibility to asthma, the variant's effect on IL-6 signaling is not known.	0.000271442	2013	IL6R	1	154454494	A	C,T
rs2306691	24801553	4035	LRP1	umls:C0162871	BeFree	Analyses identified MMP-9 p-2502 single nucleotide polymorphism (odds ratio [OR], 0.54; 95% confidence interval [CI], 0.31-0.94; P = .029) as a significant confound discriminating between control vs slow-growth AAA, MMP-9 D165N (OR, 0.49; 95% CI, 0.26-0.95; P = .035) and LRP1 (OR, 4.99; 95% CI, 1.13-22.1; P = .034) between control vs aggressive-growth AAAs, and methyltetrahydrofolate reductase (OR, 2.99; 95% CI, 1.01-8.86; P = .048), MMP-9 p-2502 (OR, 2.19; 95% CI, 1.05-4.58; P = .037), and LRP1 (OR, 4.96; 95% CI, 1.03-23.9; P = .046) as the statistically significant confounds distinguishing slow-growth AAAs vs aggressive-growth AAAs.	0.123724241	2014	LRP1;LRP1-AS	12	57145019	A	G
rs2306691	24801553	4318	MMP9	umls:C0162871	BeFree	Analyses identified MMP-9 p-2502 single nucleotide polymorphism (odds ratio [OR], 0.54; 95% confidence interval [CI], 0.31-0.94; P = .029) as a significant confound discriminating between control vs slow-growth AAA, MMP-9 D165N (OR, 0.49; 95% CI, 0.26-0.95; P = .035) and LRP1 (OR, 4.99; 95% CI, 1.13-22.1; P = .034) between control vs aggressive-growth AAAs, and methyltetrahydrofolate reductase (OR, 2.99; 95% CI, 1.01-8.86; P = .048), MMP-9 p-2502 (OR, 2.19; 95% CI, 1.05-4.58; P = .037), and LRP1 (OR, 4.96; 95% CI, 1.03-23.9; P = .046) as the statistically significant confounds distinguishing slow-growth AAAs vs aggressive-growth AAAs.	0.150995369	2014	LRP1;LRP1-AS	12	57145019	A	G
rs2383207	20622881	100048912	CDKN2B-AS1	umls:C0162871	GWASCAT	Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.	0.12	2010	CDKN2B-AS1	9	22115960	A	G
rs3019885	24423473	126668	TDRD10	umls:C0162871	BeFree	Association of rs1466535 LRP1 but not rs3019885 SLC30A8 and rs6674171 TDRD10 gene polymorphisms with abdominal aortic aneurysm in Italian patients.	0.000271442	2013	SLC30A8	8	117013406	T	G
rs3019885	24423473	169026	SLC30A8	umls:C0162871	BeFree	Association of rs1466535 LRP1 but not rs3019885 SLC30A8 and rs6674171 TDRD10 gene polymorphisms with abdominal aortic aneurysm in Italian patients.	0.000271442	2013	SLC30A8	8	117013406	T	G
rs3091244	24135623	1401	CRP	umls:C0162871	BeFree	C-reactive protein polymorphism rs3091244 is associated with abdominal aortic aneurysm.	0.003810118	2013	CRP	1	159714875	G	T,A
rs3877899	25395084	6414	SEPP1	umls:C0162871	BeFree	The aim of this study was to analyze the relationships between two functional variants of selenoprotein P gene (SEPP1 rs3877899G>A, rs7579G>A) and the occurrence of abdominal aortic aneurysm (AAA) and aortoiliac occlusive disease (AIOD), as well as their metabolic risk factors.	0.000271442	2014	SEPP1;CCDC152	5	42801166	C	T,A
rs6511720	24046328	3949	LDLR	umls:C0162871	GWASCAT	A variant in LDLR is associated with abdominal aortic aneurysm.	0.12	2014	LDLR	19	11091630	G	T
rs6674171	24423473	169026	SLC30A8	umls:C0162871	BeFree	Association of rs1466535 LRP1 but not rs3019885 SLC30A8 and rs6674171 TDRD10 gene polymorphisms with abdominal aortic aneurysm in Italian patients.	0.000271442	2013	TDRD10	1	154519207	A	G
rs6674171	24423473	126668	TDRD10	umls:C0162871	BeFree	Association of rs1466535 LRP1 but not rs3019885 SLC30A8 and rs6674171 TDRD10 gene polymorphisms with abdominal aortic aneurysm in Italian patients.	0.000271442	2013	TDRD10	1	154519207	A	G
rs7025486	20622881	153090	DAB2IP	umls:C0162871	GAD	[Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.]	0.242638474	2010	DAB2IP	9	121660124	G	A
rs7025486	20622881	153090	DAB2IP	umls:C0162871	GWASCAT	Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.	0.242638474	2010	DAB2IP	9	121660124	G	A
rs7579	25395084	6414	SEPP1	umls:C0162871	BeFree	The aim of this study was to analyze the relationships between two functional variants of selenoprotein P gene (SEPP1 rs3877899G>A, rs7579G>A) and the occurrence of abdominal aortic aneurysm (AAA) and aortoiliac occlusive disease (AIOD), as well as their metabolic risk factors.	0.000271442	2014	SEPP1;CCDC152	5	42800706	C	T
rs8125581	24801553	4035	LRP1	umls:C0162871	BeFree	Analyses identified MMP-9 p-2502 single nucleotide polymorphism (odds ratio [OR], 0.54; 95% confidence interval [CI], 0.31-0.94; P = .029) as a significant confound discriminating between control vs slow-growth AAA, MMP-9 D165N (OR, 0.49; 95% CI, 0.26-0.95; P = .035) and LRP1 (OR, 4.99; 95% CI, 1.13-22.1; P = .034) between control vs aggressive-growth AAAs, and methyltetrahydrofolate reductase (OR, 2.99; 95% CI, 1.01-8.86; P = .048), MMP-9 p-2502 (OR, 2.19; 95% CI, 1.05-4.58; P = .037), and LRP1 (OR, 4.96; 95% CI, 1.03-23.9; P = .046) as the statistically significant confounds distinguishing slow-growth AAAs vs aggressive-growth AAAs.	0.123724241	2014	MMP9	20	46010604	G	A
rs8125581	24801553	4318	MMP9	umls:C0162871	BeFree	Analyses identified MMP-9 p-2502 single nucleotide polymorphism (odds ratio [OR], 0.54; 95% confidence interval [CI], 0.31-0.94; P = .029) as a significant confound discriminating between control vs slow-growth AAA, MMP-9 D165N (OR, 0.49; 95% CI, 0.26-0.95; P = .035) and LRP1 (OR, 4.99; 95% CI, 1.13-22.1; P = .034) between control vs aggressive-growth AAAs, and methyltetrahydrofolate reductase (OR, 2.99; 95% CI, 1.01-8.86; P = .048), MMP-9 p-2502 (OR, 2.19; 95% CI, 1.05-4.58; P = .037), and LRP1 (OR, 4.96; 95% CI, 1.03-23.9; P = .046) as the statistically significant confounds distinguishing slow-growth AAAs vs aggressive-growth AAAs.	0.150995369	2014	MMP9	20	46010604	G	A

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

GWASdb Snp Trait(Total Genotypes:37)
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	154436195	rs4240872	C	T	rs4240872	24046328	7.21E-05	GWAS stage only	1.21	[1.10-1.32]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs4240872-G	Meta-Analysis	Research Support, Non-U.S. Gov't	C
1	154438084	rs7514452	C	T	rs7514452	24046328	6.83E-05	GWAS stage only	1.22	[1.11-1.34]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs7514452-G	Meta-Analysis	Research Support, Non-U.S. Gov't	T
1	154491683	rs6674171	A	G	rs6674171	22055160	1.15E-05	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	A	TDRD10
1	172346396	rs4916251	T	A	rs4916251	23246012	0.00065	NA	NA	NA	3612 individuals	NOPOP(3612)	ALL(3612)	NOPOP(3612)	ALL(3612)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	A
2	2236281	rs4853946	T	C	rs4853946	22055160	2.73E-04	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	G,A	MYT1L
2	46683683	rs7565770	A	C	rs7565770	22055160	2.61E-05	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	C	NA
2	96037247	rs4854251	T	G	rs4854251	24046328	5.53E-05	GWAS stage only	1.23	[1.12-1.36]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs4854251-C	Meta-Analysis	Research Support, Non-U.S. Gov't	T
2	96038093	rs10874471	T	C	rs10874471	24046328	5.53E-05	GWAS stage only	1.23	[1.12-1.36]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs10874471-G	Meta-Analysis	Research Support, Non-U.S. Gov't	C
3	74783476	rs7635818	G	C	rs7635818	19497516	4.10E-04	Abdominal aortic aneurysm (with smoking)	NA	NA	123 cases; 112 controls	NOPOP(235)	ALL(235)	NOPOP(235)	ALL(235)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C
4	11533696	rs12507728	A	G	rs12507728	24046328	1.14E-05	GWAS stage only	1.19	[1.10-1.28]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	A
8	20550536	rs2597384	A	C	rs2597384	24046328	5.98E-05	GWAS stage only	1.18	[1.09-1.27]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	C
8	118025645	rs3019885	T	G	rs3019885	22055160	2.32E-10	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	T	SLC30A8
8	128758861	rs12680047	T	C	rs12680047	24046328	2.79E-05	GWAS stage only	1.19	[1.10-1.30]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	C
9	16211137	rs200667799	T	TAC	rs7044238	22055160	4.26E-04	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	T	NA
9	16211137	rs7044238	T	C	rs7044238	22055160	4.26E-04	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	T	NA
9	22081397	rs10116277	G	T	rs10116277	24046328	5.23E-05	GWAS stage only	1.17	[1.09-1.27]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs10116277-A	Meta-Analysis	Research Support, Non-U.S. Gov't	T
9	22098574	rs4977574	A	G	rs4977574	24046328	1.76E-05	GWAS stage only	1.19	[1.10-1.28]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs4977574-G	Meta-Analysis	Research Support, Non-U.S. Gov't	A
9	22115959	rs2383207	A	G	rs2383207	20622881	2.00E-08	NA	1.27	NA	452 Icelandic cases; 27,712 Icelandic controls; 840 Dutch cases; 2,791 Dutch controls	Icelandic(28164)	Dutch(3631)	ALL(31795)	EUR(31795)	ALL(31795)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs2383207-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
9	124422403	rs7025486	G	A	rs7025486	20622881	5.00E-10	NA	1.21	[1.14-1.28]	452 Icelandic cases; 27,712 Icelandic controls; 840 Dutch cases; 2,791 Dutch controls	Icelandic(28164)	Dutch(3631)	ALL(31795)	EUR(31795)	ALL(31795)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs7025486-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
11	30547438	rs11031122	T	C	rs11031122	24046328	2.03E-05	GWAS stage only	1.21	[1.11-1.32]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs11031122-G	Meta-Analysis	Research Support, Non-U.S. Gov't	T
11	30553329	rs11031125	C	T	rs11031125	24046328	2.84E-05	GWAS stage only	1.2	[1.11-1.31]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs11031125-A	Meta-Analysis	Research Support, Non-U.S. Gov't	C
11	100935780	rs495997	A	G	rs495997	24046328	8.89E-05	GWAS stage only	1.18	[1.09-1.27]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	A
12	57530670	rs4759044	T	C	rs4759044	24046328	5.40E-05	GWAS stage only	1.18	[1.09-1.27]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	C
12	57534470	rs1466535	G	A	rs1466535	22055160	5.00E-10	NA	1.15	[1.10-1.21]	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs1466535-C	Research Support, Non-U.S. Gov't	C	LRP1
12	57534470	rs1466535	G	A	rs1466535	24046328	2.12E-05	GWAS stage only	1.19	[1.10-1.30]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	C
13	94449198	rs9301909	G	A	rs9301909	24046328	2.14E-05	GWAS stage only	1.2	[1.10-1.30]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs9301909-A	Meta-Analysis	Research Support, Non-U.S. Gov't	G
13	94456939	rs2892667	A	G	rs2892667	22055160	1.73E-04	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	A	GPC6
13	94456939	rs2892667	A	G	rs2892667	24046328	2.56E-05	GWAS stage only	1.2	[1.10-1.30]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs2892667-G	Meta-Analysis	Research Support, Non-U.S. Gov't	A
13	94483733	rs9524249	A	C	rs9524249	24046328	2.34E-05	GWAS stage only	1.2	[1.10-1.30]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs9524249-C	Meta-Analysis	Research Support, Non-U.S. Gov't	A
13	94519950	rs1411513	G	A	rs1411513	24046328	2.55E-05	GWAS stage only	1.2	[1.10-1.30]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs1411513-A	Meta-Analysis	Research Support, Non-U.S. Gov't	C
13	94528418	rs9524264	A	C	rs9524264	24046328	6.59E-05	GWAS stage only	1.18	[1.09-1.28]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	rs9524264-C	Meta-Analysis	Research Support, Non-U.S. Gov't	A
14	54418411	rs2071047	G	A	rs2071047	22055160	3.51E-04	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	C	BMP4
15	61102657	rs12441037	T	C	rs12441037	24046328	6.49E-05	GWAS stage only	1.56	[1.27-1.92]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	T
15	61105886	rs6494226	C	T	rs6494226	24046328	5.59E-05	GWAS stage only	1.56	[1.27-1.92]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	T
19	11202306	rs6511720	G	T	rs6511720	24046328	2.00E-10	NA	1.32	[1.20-1.43]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	G
19	11210912	rs2228671	C	T	rs2228671	24046328	8.37E-05	GWAS stage only	1.3	[1.14-1.47]	1,755 European ancestry cases; 5,314 European ancestry controls	European(7069)	ALL(7069)	EUR(7069)	ALL(7069)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Meta-Analysis	Research Support, Non-U.S. Gov't	T
19	53694547	rs11666426	T	C	rs11666426	22055160	3.36E-04	NA	NA	NA	1,866 cases; 5,435 controls	NOPOP(7301)	ALL(7301)	NOPOP(7301)	ALL(7301)	Abdominal aortic aneurysm	HPOID:0004953	Abdominal aortic aneurysm	DOID:7693	abdominal aortic aneurysm	D017544	Aortic Aneurysm, Abdominal	EFOID:0004214	abdominal aortic aneurysm	Aortic aneurysm	NA	Research Support, Non-U.S. Gov't	T	ZNF665

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004953	Abdominal aortic aneurysm	MP:0004044	aortic dissection	a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004953	Abdominal aortic aneurysm	MP:0011092	embryonic lethality, complete penetrance	death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)

Disease ID	287
Disease	abdominal aortic aneurysm
Case	(Waiting for update.)