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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:abdominal aortic aneurysm
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Accession:DOID:7693 term browser browse the term
Definition:An aortic aneurysm that is located_in the abdominal aorta. (DO)
Synonyms:exact_synonym: AAA;   Abdominal Aortic Aneurysms
 narrow_synonym: sporadic abdominal aortic aneurysm
 related_synonym: familial abdominal aortic aneurysm
 primary_id: MESH:D017544
 xref: EFO:0004214;   GARD:9181;   NCI:C27000;   OMIM:PS100070
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
abdominal aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24602481 RGD:11039028 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACE2 angiotensin converting enzyme 2 EXP CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ADM adrenomedullin IEP protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397 		JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO
EXP		 mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22539767 PMID:18451329 RGD:5147451 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AHCY adenosylhomocysteinase susceptibility IAGP DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) RGD PMID:18635682 RGD:329853746 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G APOE apolipoprotein E disease_progression IAGP
ISO		 DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10848855 PMID:10841519 RGD:1578483, RGD:6903247 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CASP3 caspase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CAV1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G CRP C-reactive protein IEP protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CSF2 colony stimulating factor 2 severity ISO mRNA:increased expression:aorta:
protein:decreased expression:serum (rat)		 RGD PMID:15010288 PMID:15238617 RGD:10450246, RGD:1302825 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G DAB2IP DAB2 interacting protein sexual_dimorphism EXP
IAGP
IEP		 CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:rs7025486 (human)
mRNA:increased expression:aorta (human)
DNA:SNP:CDS:intron 1 (rs7025486) (human)		 CTD
RGD		 PMID:20622881 PMID:28698188 PMID:31028191 PMID:20622881 RGD:401938619, RGD:401938604, RGD:401901599 NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530 		JBrowse link
G EHF ETS homologous factor treatment ISO RGD PMID:14662712 RGD:1581123 NCBI chr11:34,621,093...34,663,288
Ensembl chr11:34,621,093...34,663,288 		JBrowse link
G ELN elastin treatment IAGP
ISO		 RGD PMID:15944607 PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FOLH1 folate hydrolase 1 susceptibility IAGP DNA:SNPs,haplotypes:exon: (rs202676,rs202680) (human) RGD PMID:18635682 RGD:329853746 NCBI chr11:49,145,092...49,208,602
Ensembl chr11:49,145,092...49,208,638 		JBrowse link
G FTL ferritin light chain IAGP ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IEP mRNA, protein:altered expression:aorta RGD PMID:32042813 RGD:329901855 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G GATM glycine amidinotransferase HEP RGD PMID:22797469 RGD:329961302 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:21530968 PMID:24337353 RGD:401827823, RGD:401827834 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GYS1 glycogen synthase 1 IAGP ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP RGD PMID:12182912 RGD:1580455 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL1B interleukin 1 beta ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL4 interleukin 4 ISO protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G ITGAM integrin subunit alpha M ameliorates IEP
ISO		 protein:increased expression:aorta (human) RGD PMID:33749307 PMID:33749307 RGD:329853751, RGD:329853751 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G ITGAV integrin subunit alpha V IDA RGD PMID:16809548 RGD:1582446 NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,010...186,680,901 		JBrowse link
G KNG1 kininogen 1 ISO DNA:SNP:487G>A RGD PMID:15238617 RGD:1302825 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410 		JBrowse link
G LOX lysyl oxidase ISO RGD PMID:10965315 RGD:1581887 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IDA RGD PMID:16311603 RGD:1582313 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MIR363 microRNA 363 IEP mRNA:decreased expression:aorta (human) RGD PMID:31028191 RGD:401938604 NCBI chr  X:134,169,378...134,169,452
Ensembl chr  X:134,169,378...134,169,452 		JBrowse link
G MMP1 matrix metallopeptidase 1 IDA RGD PMID:16293969 RGD:1582519 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP12 matrix metallopeptidase 12 no_association IAGP
IDA		 RGD PMID:16082623 PMID:16115023 RGD:1582356, RGD:1582355 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP13 matrix metallopeptidase 13 no_association IDA
IAGP		 RGD PMID:15156361 PMID:15944607 RGD:1582548, RGD:1580157 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP14 matrix metallopeptidase 14 IEP
EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19010778 PMID:11877705 PMID:15300177 RGD:1582584, RGD:1582579 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment
no_association		 ISO
IEP
IAGP		 RGD PMID:20016209 PMID:21256058 PMID:24484904 PMID:11457749 PMID:15300177 More... RGD:2325698, RGD:13207313, RGD:8657104, RGD:1582585, RGD:1582579, RGD:1582621, RGD:1302825 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP8 matrix metallopeptidase 8 severity IEP RGD PMID:16432074 RGD:1582641 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity
treatment		 IEP
EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17196988 PMID:16432074 PMID:21256058 RGD:1582641, RGD:13207313 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNPs,haplotypes:intron: (rs8003379) (human) RGD PMID:18635682 RGD:329853746 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:18635682 RGD:329853746 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:SNP: (rs326118) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MYH11 myosin heavy chain 11 IEP protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NNMT nicotinamide N-methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:: RGD PMID:18635682 RGD:329853746 NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536 		JBrowse link
G NONO non-POU domain containing octamer binding ameliorates ISO RGD PMID:31512366 RGD:155882451 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 IEP mRNA:increased expression:abdominal aorta (human) RGD PMID:16311343 RGD:401827904 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO RGD PMID:19028049 RGD:6480528 NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PLA2G7 phospholipase A2 group VII IAGP RGD PMID:11807372 RGD:1581024 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human) RGD PMID:18635682 RGD:329853746 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G POSTN periostin IEP
ISO		 protein:increased expression:aorta: RGD PMID:24260297 PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G SELL selectin L ISO RGD PMID:15998669 RGD:5685707 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702 		JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:20554458 RGD:4144856 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility IAGP DNA:SNP:: (rs3788205) (human) RGD PMID:18635682 RGD:329853746 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SOD2 superoxide dismutase 2 ISO
EXP		 mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17196988 PMID:17196988 RGD:1625699 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SORT1 sortilin 1 IAGP DNA:SNP:CDS:rs599839 (human) RGD PMID:28698188 RGD:401938619 NCBI chr 1:109,309,575...109,397,918
Ensembl chr 1:109,309,568...109,397,918 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912 		JBrowse link
G TYMS thymidylate synthetase susceptibility IAGP DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) RGD PMID:18635682 RGD:329853746 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
Aortic Aneurysm, Familial Abdominal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      cardiovascular system disease 6068
        vascular disease 3858
          Aneurysm 327
            aortic aneurysm 291
              abdominal aortic aneurysm 70
                Aortic Aneurysm, Familial Abdominal 1 1
                Aortic Aneurysm, Familial Abdominal 2 0
                Aortic Aneurysm, Familial Abdominal 3 0
                Aortic Aneurysm, Familial Abdominal 4 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      cardiovascular system disease 6068
        vascular disease 3858
          artery disease 2582
            aortic disease 1076
              aortic aneurysm 291
                abdominal aortic aneurysm 70
                  Aortic Aneurysm, Familial Abdominal 1 1
                  Aortic Aneurysm, Familial Abdominal 2 0
                  Aortic Aneurysm, Familial Abdominal 3 0
                  Aortic Aneurysm, Familial Abdominal 4 0
paths to the root