AAA
MCID: ART138
MIFTS: 65

Aortic Aneurysm, Familial Abdominal, 1 (AAA)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Abdominal, 1

MalaCards integrated aliases for Aortic Aneurysm, Familial Abdominal, 1:

Name: Aortic Aneurysm, Familial Abdominal, 1 57
Abdominal Aortic Aneurysm 57 12 76 53 3 15 63
Aortic Aneurysm, Familial Abdominal 1 57 12 13
Aneurysm, Abdominal Aortic 57 53
Aortic Aneurysm, Abdominal 44 73
Aaa 57 75
Familial Abdominal Aortic Aneurysm 1 6
Aortic Aneurysm, Familial Abdominal 75
Aneurysm, Abdominal Aortic; Aaa 57
Aortic Aneurysm Abdominal 55
Aaa1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant vs. recessive at an autosomal major locus or multifactorial
col3a1 gene (120180.0004) mutations cause about 2%


Classifications:



External Ids:

OMIM 57 100070
Disease Ontology 12 DOID:7693
MeSH 44 D017544
NCIt 50 C27000
ICD10 33 I71.4
UMLS 73 C0162871

Summaries for Aortic Aneurysm, Familial Abdominal, 1

NIH Rare Diseases : 53 Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. About 20% of AAAs eventually rupture and are often fatal. The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inheritedsyndrome. When more than one family member is affected, it may be considered "familial abdominal aortic aneurysm." Treatment depends on the size of the aneurysm and may include blood pressure medications, or surgery to repair the aneurysm.

MalaCards based summary : Aortic Aneurysm, Familial Abdominal, 1, also known as abdominal aortic aneurysm, is related to familial abdominal aortic aneurysm and aortic aneurysm. An important gene associated with Aortic Aneurysm, Familial Abdominal, 1 is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are Innate Immune System and Integrin Pathway. Affiliated tissues include kidney, heart and smooth muscle, and related phenotypes are abdominal aortic aneurysm and homeostasis/metabolism

Disease Ontology : 12 An aortic aneurysm that is located in the abdominal aorta.

OMIM : 57 Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). (100070)

CDC : 3 An aortic aneurysm is a balloon-like bulge in the aorta, the large artery that carries blood from the heart through the chest and torso.

UniProtKB/Swiss-Prot : 75 Aortic aneurysm, familial abdominal: A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells.

PubMed Health : 63 About abdominal aortic aneurysm: The aorta is the artery that carries oxygen-rich blood from the heart to the rest of the body. The part of the aorta that runs through the abdomen is called the abdominal aorta. It usually has a diameter of about 2 cm.If one part of the aorta bulges outward and has a diameter of more than 3 cm, it is known as an abdominal aortic aneurysm (sometimes abbreviated as AAA).People who have this type of aneurysm usually don't notice it. This is because it typically doesn't cause any symptoms. Most aneurysms aren't dangerous.But there is a risk of the aorta suddenly rupturing (breaking open) if an aneurysm keeps on expanding. That is an emergency situation and life-threatening.

Wikipedia : 76 Abdominal aortic aneurysm (AAA or triple A) is a localized enlargement of the abdominal aorta such that... more...

Related Diseases for Aortic Aneurysm, Familial Abdominal, 1

Diseases in the Familial Abdominal Aortic Aneurysm family:

Aortic Aneurysm, Familial Abdominal, 1 Aortic Aneurysm, Familial Abdominal, 2
Aortic Aneurysm, Familial Abdominal, 3 Aortic Aneurysm, Familial Abdominal, 4

Diseases related to Aortic Aneurysm, Familial Abdominal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 335)
# Related Disease Score Top Affiliating Genes
1 familial abdominal aortic aneurysm 34.4 FBN1 ELN
2 aortic aneurysm 33.0 MMP13 FBN1 ELN CDKN2B-AS1
3 aortic aneurysm, familial thoracic 1 32.7 MMP9 MMP2 MMP1 FBN1 ELN
4 peripheral artery disease 30.9 CST3 CDKN2B-AS1 CCL2
5 intracranial aneurysm 30.7 MMP2 ELN CDKN2B-AS1
6 breast cancer 30.6 CDKN2B-AS1 H19 MMP1 MMP13 MMP2 MMP9
7 pulmonary disease, chronic obstructive 30.6 TIMP1 MMP9 MMP1 ELN ELANE CCL2
8 coronary artery aneurysm 30.6 MMP3 MMP13 MMP1 CCL2
9 carotid stenosis 30.6 MMP9 MMP1 CDKN2B-AS1
10 inguinal hernia 30.4 TIMP2 TIMP1 MMP9 MMP2 MMP13 MMP1
11 exfoliation syndrome 30.4 MMP1 FBN1 ELN
12 myocardial infarction 30.4 MMP9 MMP3 MMP2 CST3 CDKN2B-AS1 CCL2
13 arteriosclerosis 30.3 MMP9 ELN CCL2
14 cerebral arterial disease 30.3 MMP9 ELN CDKN2B-AS1
15 vascular disease 30.2 MMP9 MMP3 ELN ELANE CST3 CCL2
16 appendicitis 30.2 TIMP1 MMP9 MMP8
17 marfan syndrome 30.2 MMP2 FBN1 ELN
18 carotid artery disease 30.2 TIMP1 MMP9 MMP8 MMP3 MMP1 CCL2
19 aortic disease 30.0 MMP9 MMP2 FBN1 ELN
20 cerebral aneurysms 30.0 MMP2 ELN ELANE CST3 CCL2
21 kawasaki disease 30.0 TIMP1 MMP9 MMP3 ELANE CCL2
22 nasopharyngeal carcinoma 30.0 MMP9 MMP3 MMP2 H19 CDKN2B-AS1
23 arthritis 29.9 MMP9 MMP3 MMP13 MMP1 CCL2
24 fibrosarcoma 29.9 TIMP2 TIMP1 PLAU MMP9 MMP3 MMP2
25 lung cancer susceptibility 3 29.8 PLAU MMP9 MMP2 H19
26 rheumatoid arthritis 29.7 TIMP1 MMP9 MMP3 MMP13 MMP1 H19
27 aortic aneurysm, familial abdominal, 2 12.5
28 aortic aneurysm, familial abdominal, 4 12.5
29 aortic aneurysm, familial abdominal, 3 12.5
30 achalasia-addisonianism-alacrima syndrome 12.2
31 duodenal obstruction 10.5
32 peripheral vascular disease 10.5
33 compartment syndrome 10.4
34 arteries, anomalies of 10.4
35 retroperitoneal fibrosis 10.4
36 ascites, chylous 10.4
37 colitis 10.4
38 extracranial arteriovenous malformation 10.3 MMP9 MMP2
39 rheumatoid nodulosis 10.3 MMP9 MMP3
40 thrombosis 10.3
41 focal myositis 10.3 MMP9 MMP2
42 late-onset focal dermal elastosis 10.3 FBN1 ELN
43 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.3 FBN1 ELN
44 autoimmune inner ear disease 10.3 TIMP1 MMP9
45 superior limbic keratoconjunctivitis 10.3 MMP3 MMP1
46 villous adenocarcinoma 10.3 MMP9 MMP2
47 lentigo maligna melanoma 10.3 MMP9 MMP2
48 senile ectropion 10.3 MMP9 MMP2 ELN
49 amaurosis fugax 10.3 MMP9 MMP8
50 pancreatitis 10.3

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Abdominal, 1:



Diseases related to Aortic Aneurysm, Familial Abdominal, 1

Symptoms & Phenotypes for Aortic Aneurysm, Familial Abdominal, 1

Symptoms via clinical synopsis from OMIM:

57
Vascular:
abdominal aortic aneurysm
generalized dilating diathesis

Misc:
estimated 11.6-fold increase among persons with an affected first-degree relative


Clinical features from OMIM:

100070

Human phenotypes related to Aortic Aneurysm, Familial Abdominal, 1:

32
# Description HPO Frequency HPO Source Accession
1 abdominal aortic aneurysm 32 HP:0005112

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Abdominal, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 CST3 ELANE FBN1 MMP1 MMP13 MMP2
2 immune system MP:0005387 9.7 CCL2 ELANE FBN1 MMP1 MMP2 MMP3
3 neoplasm MP:0002006 9.23 CST3 ELANE MMP1 MMP2 MMP8 MMP9

Drugs & Therapeutics for Aortic Aneurysm, Familial Abdominal, 1

PubMedHealth treatment related to Aortic Aneurysm, Familial Abdominal, 1: 63

Whether or not treatment is a good idea, and what type of treatment would be suitable, will mainly depend on the size of the aneurysm, its general development and the overall health of the person who has it. Smaller abdominal aortic aneurysms that have a diameter of less than 5.5 cm are typically checked on a regular basis. Smokers are usually asked to quit because smoking can make the aneurysm get bigger. People who have other risk factors, such as high blood pressure or high blood lipid levels, are advised to seek treatment for those conditions. But it is not yet clear whether medication can slow the growth of the aneurysm and actually lower the risk of rupture.If the risk of rupture is high, surgery is the only preventive measure. There are two types of surgery for a large aneurysm:Open surgery through an abdominal incision (cut): The aneurysm is opened, and replaced by an artificial vessel (graft).Endovascular procedure through a small incision in the groin: A small tube (stent) is put into the artery, pushed along to where the aneurysm is, and implanted in the aneurysm.Both of these procedures are associated with risks. Determining whether a surgical procedure is a good idea is a very personal decision: On the one hand there are risks, but on the other there is the possible danger of the aneurysm rupturing.

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Appetite and Adiposity Across a Continuum of Activity Unknown status NCT02763449 Not Applicable

Search NIH Clinical Center for Aortic Aneurysm, Familial Abdominal, 1

Cochrane evidence based reviews: aortic aneurysm, abdominal

Genetic Tests for Aortic Aneurysm, Familial Abdominal, 1

Anatomical Context for Aortic Aneurysm, Familial Abdominal, 1

MalaCards organs/tissues related to Aortic Aneurysm, Familial Abdominal, 1:

41
Kidney, Heart, Smooth Muscle, Colon, Skin, Testes, Lung

The Foundational Model of Anatomy Ontology organs/tissues related to Aortic Aneurysm, Familial Abdominal, 1:

19
The Abdominal Aorta

Publications for Aortic Aneurysm, Familial Abdominal, 1

Articles related to Aortic Aneurysm, Familial Abdominal, 1:

(show top 50) (show all 2468)
# Title Authors Year
1
Patients with end-stage renal disease have poor outcomes after endovascular abdominal aortic aneurysm repair. ( 29945838 )
2018
2
Understanding abdominal aortic aneurysm epidemiology: socioeconomic position affects outcome. ( 29967003 )
2018
3
Comparative effectiveness of open surgery versus endovascular repair for hemodynamically stable and unstable ruptured abdominal aortic aneurysm. ( 29979402 )
2018
4
Defective p27 phosphorylation at serine 10 affects vascular reactivity and increases abdominal aortic aneurysm development via Cox-2 activation. ( 29408196 )
2018
5
Cysteinyl leukotriene receptor 1 antagonism prevents experimental abdominal aortic aneurysm. ( 29432192 )
2018
6
Systematic Review of Circulating, Biomechanical, and Genetic Markers for the Prediction of Abdominal Aortic Aneurysm Growth and Rupture. ( 29960996 )
2018
7
Screening for Abdominal Aortic Aneurysm During Transthoracic Echocardiography: A Systematic Review and Meta-analysis. ( 29433798 )
2018
8
Impact of abdominal aortic aneurysm screening on quality ofA life. ( 29405273 )
2018
9
Early growth response factor-1 DNA enzyme 1 inhibits the formation of abdominal aortic aneurysm in rats. ( 29977360 )
2018
10
Concomitant mycotic abdominal aortic aneurysm and lumbartuberculous spondylitis with cauda equina syndrome: a rare condition - a case report and literature review. ( 29479482 )
2018
11
Modulation of Immune-Inflammatory Responses in Abdominal Aortic Aneurysm: Emerging Molecular Targets. ( 29967801 )
2018
12
Ten-year experience of the thoraco-abdominal aortic aneurysm treatment using a hybrid thoracic endovascular aortic repair. ( 29415193 )
2018
13
Association of carotid atherosclerosis and stiffness with abdominal aortic aneurysm: The atherosclerosis risk in communities (ARIC) study. ( 29407878 )
2018
14
The Association of Biomarkers of Inflammation and Extracellular Matrix Degradation With the Risk of Abdominal Aortic Aneurysm: The ARIC Study. ( 29945457 )
2018
15
Endovascular repair for inflammatory abdominal aortic aneurysm. ( 29945204 )
2018
16
Embelin inhibits abdominal aortic aneurysm through decreasing ILa896a89induced STAT3 and NFa89I_B inactivation. ( 29956759 )
2018
17
A custom-made TreovanceAr abdominal aortic aneurysm endograft to correct late failure of trombone technique with a tube endograft. ( 29421425 )
2018
18
Fenestrated Endovascular Abdominal Aortic Aneurysm Repair. ( 30497550 )
2018
19
Treatment of Retrograde Type B Aortic Dissection After Endovascular Repair of Abdominal Aortic Aneurysm. ( 30500637 )
2018
20
Spinal cord perfusion protection for thoraco-abdominal aortic aneurysm surgery. ( 30507678 )
2018
21
Oral curcumin in elective abdominal aortic aneurysm repair: a multicentre randomized controlled trial. ( 30510051 )
2018
22
Statin intensity and postoperative mortality following open repair of intact abdominal aortic aneurysm. ( 30511041 )
2018
23
Type II Endoleak After Endovascular Aortic Aneurysm Repair Using the Endurant Stent Graft System for Abdominal Aortic Aneurysm with Occluded Inferior Mesenteric Artery. ( 30515534 )
2018
24
Ruptured Abdominal Aortic Aneurysm with a Suprarenal Tumor. ( 30517262 )
2018
25
Nanotherapy for abdominal aortic aneurysm. ( 30518954 )
2018
26
Abdominal aortic aneurysm in aged population. ( 30523221 )
2018
27
Pathophisiology of abdominal aortic aneurysm: biomarkers and novel therapeutic targets. ( 30528271 )
2018
28
Testicular Acute Segmental Infarct Following Endovascular Repair of a Juxta-renal Abdominal Aortic Aneurysm: Case Report and Literature Review. ( 30529337 )
2018
29
Stenting of an endograft limb in its acute occlusion after endovascular intervention for an abdominal aortic aneurysm. ( 30531784 )
2018
30
Gambogic acid prevents angiotensin II‑induced abdominal aortic aneurysm through inflammatory and oxidative stress dependent targeting the PI3K/Akt/mTOR and NF‑κB signaling pathways. ( 30535428 )
2018
31
Chemokine (C-X-C motif) receptor 2 blockade by SB265610 inhibited angiotensin II-induced abdominal aortic aneurysm in Apo E-/- mice. ( 30535755 )
2018
32
Cohort study of risk factors for 30-day readmission after abdominal aortic aneurysm repair. ( 30539688 )
2018
33
miR-183 and miR-141 in lesion tissues are potential risk factors for poor prognosis in patients with infected abdominal aortic aneurysm. ( 30542422 )
2018
34
Contrast-enhanced ultrasound and/or colour duplex ultrasound for surveillance after endovascular abdominal aortic aneurysm repair: a systematic review and economic evaluation. ( 30543179 )
2018
35
Risk Factors for Abdominal Aortic Aneurysm in Population-Based Studies: A Systematic Review and Meta-Analysis. ( 30544688 )
2018
36
Segmental replacement to treat abdominal aortic aneurysm with bilateral accessory renal artery. ( 30547152 )
2018
37
Survival after abdominal aortic aneurysm repair is affected by socioeconomic status. ( 30552038 )
2018
38
Using bifurcated endoprosthesis after iliac artery recanalization for concomitant abdominal aortic aneurysm and chronic total occlusions of access routes. ( 30553731 )
2018
39
Mobilization of the lumbar spine in a 76-year-old male with mechanical low back pain and an abdominal aortic aneurysm: A case report. ( 30198815 )
2018
40
Renal function after abdominal aortic aneurysm repair in patients with baseline chronic renal insufficiency: open vs. endovascular repair. ( 30203638 )
2018
41
Abdominal aortic aneurysm with occlusion of three primary mesenteric vessels treated by surgery with perfusion of the left iliac artery. ( 30204877 )
2018
42
Proprotein Convertase Subtilisin/Kexin Type 9 Is Associated with Degenerating Adipocytes in Abdominal Aortic Aneurysm. ( 30210081 )
2018
43
Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm. ( 30210120 )
2018
44
Marfan syndrome combined with huge abdominal aortic aneurysm size of 20 × 11 cm: A case report of surgical approach. ( 30212924 )
2018
45
Comparison of Efficacy between Ramipril and Carvedilol on Limiting the Expansion of Abdominal Aortic Aneurysm in Mouse Model. ( 30213197 )
2018
46
Smooth muscle-specific biomarker for abdominal aortic aneurysm: a beacon for the silent killer. ( 30216116 )
2018
47
Use of 3-Dimensional Printing to Create Patient-Specific Abdominal Aortic Aneurysm Models for Preoperative Planning. ( 30217582 )
2018
48
Antithrombotic therapy in abdominal aortic aneurysm: beneficial or detrimental? ( 30228233 )
2018
49
A selective antagonist of prostaglandin E receptor subtype 4 attenuates abdominal aortic aneurysm. ( 30230255 )
2018
50
Increased Risk of Peripheral Arterial Disease in Patients With Abdominal Aortic Aneurysm: A Retrospective Cohort Study (Version 5). ( 29444589 )
2018

Variations for Aortic Aneurysm, Familial Abdominal, 1

ClinVar genetic disease variations for Aortic Aneurysm, Familial Abdominal, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYLK NM_053025.3(MYLK): c.4844C> T (p.Ala1615Val) single nucleotide variant Likely benign rs202177283 GRCh38 Chromosome 3, 123638188: 123638188
2 MYLK NM_053025.3(MYLK): c.4844C> T (p.Ala1615Val) single nucleotide variant Likely benign rs202177283 GRCh37 Chromosome 3, 123357035: 123357035

Expression for Aortic Aneurysm, Familial Abdominal, 1

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Abdominal, 1.

Pathways for Aortic Aneurysm, Familial Abdominal, 1

Pathways related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 CCL2 CST3 ELANE MMP1 MMP2 MMP3
2
Show member pathways
13.33 CCL2 ELN FBN1 MMP1 MMP13 MMP2
3
Show member pathways
12.55 ELANE ELN FBN1 MMP1 MMP13 MMP2
4
Show member pathways
12.28 CCL2 MMP1 MMP13 MMP3 MMP9
5
Show member pathways
12.21 CCL2 MMP1 MMP13 MMP3 TIMP1
6
Show member pathways
12.19 CCL2 ELN FBN1 MMP1 MMP13 MMP2
7 12.17 ELANE MMP3 MMP9 PLAU
8 11.99 CCL2 MMP1 MMP2 MMP3 MMP9 TIMP1
9 11.97 MMP13 MMP2 MMP3 MMP9
10 11.86 CCL2 MMP3 MMP9
11 11.76 CCL2 MMP1 MMP3
12 11.75 CCL2 MMP13 MMP2 MMP3 MMP9 TIMP1
13 11.66 MMP1 MMP2 MMP9
14 11.64 CCL2 MMP3 MMP9
15 11.64 CCL2 ELN MMP2 MMP9 PLAU TIMP1
16
Show member pathways
11.62 MMP1 MMP2 MMP3 MMP9
17 11.61 MMP13 MMP2 MMP9
18 11.59 MMP13 MMP9 PLAU
19 11.49 ELANE MMP2 MMP9 PLAU
20
Show member pathways
11.42 MMP2 MMP9 PLAU
21 11.39 ELANE ELN MMP1 MMP3 MMP9 TIMP2
22 11.34 MMP1 MMP13 MMP2 MMP3 MMP9 PLAU
23 11.33 CCL2 MMP1 MMP2 MMP9 PLAU
24
Show member pathways
11.27 ELANE MMP1 MMP13 MMP2 MMP3 MMP8
25 11.26 CCL2 MMP2 MMP9
26 11.18 CCL2 MMP9 TIMP1 TIMP2
27 11.11 CST3 MMP2 MMP9
28 10.99 CCL2 MMP1 TIMP1
29 10.94 CCL2 ELN FBN1 TIMP1 TIMP2
30 10.87 MMP1 MMP9

GO Terms for Aortic Aneurysm, Familial Abdominal, 1

Cellular components related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.93 CCL2 CST3 ELANE FBN1 MMP13 MMP2
2 collagen-containing extracellular matrix GO:0062023 9.8 ELANE ELN FBN1 MMP2 MMP8 MMP9
3 extracellular region GO:0005576 9.8 CCL2 CST3 ELANE ELN FBN1 MMP1
4 tertiary granule lumen GO:1904724 9.62 CST3 MMP8 MMP9 TIMP2
5 specific granule lumen GO:0035580 9.54 ELANE MMP8 TIMP2
6 extracellular matrix GO:0031012 9.32 ELN FBN1 MMP1 MMP13 MMP2 MMP3

Biological processes related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.92 ELANE MMP1 MMP13 MMP2 MMP3 MMP8
2 neutrophil degranulation GO:0043312 9.88 CST3 ELANE MMP8 MMP9 PLAU TIMP2
3 cytokine-mediated signaling pathway GO:0019221 9.85 MMP1 CCL2 MMP2 MMP3 MMP9 TIMP1
4 cellular protein metabolic process GO:0044267 9.73 MMP1 MMP13 FBN1 CST3 MMP2 TIMP1
5 endodermal cell differentiation GO:0035987 9.61 MMP2 MMP8 MMP9
6 positive regulation of protein oligomerization GO:0032461 9.49 MMP1 MMP3
7 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.48 TIMP1 TIMP2
8 negative regulation of metallopeptidase activity GO:1905049 9.46 TIMP1 TIMP2
9 collagen catabolic process GO:0030574 9.43 MMP2 MMP3 MMP8 MMP9 MMP1 MMP13
10 regulation of neuroinflammatory response GO:0150077 9.33 MMP3 MMP8 MMP9
11 extracellular matrix disassembly GO:0022617 9.28 TIMP2 MMP8 MMP3 MMP13 MMP1 ELANE

Molecular functions related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.97 MMP1 MMP13 MMP2 MMP3 MMP8 MMP9
2 peptidase activity GO:0008233 9.86 ELANE MMP1 MMP13 MMP2 MMP3 MMP8
3 endopeptidase activity GO:0004175 9.72 ELANE MMP1 MMP3 MMP8 MMP9
4 protease binding GO:0002020 9.71 CST3 ELANE TIMP1 TIMP2
5 metallopeptidase activity GO:0008237 9.63 MMP1 MMP13 MMP2 MMP3 MMP8 MMP9
6 metalloendopeptidase inhibitor activity GO:0008191 9.48 TIMP1 TIMP2
7 extracellular matrix constituent conferring elasticity GO:0030023 9.43 ELN FBN1
8 metalloendopeptidase activity GO:0004222 9.43 MMP1 MMP13 MMP2 MMP3 MMP8 MMP9
9 serine-type endopeptidase activity GO:0004252 9.23 ELANE MMP1 MMP13 MMP2 MMP3 MMP8
10 hydrolase activity GO:0016787 10.06 ELANE MMP1 MMP13 MMP2 MMP3 MMP8

Sources for Aortic Aneurysm, Familial Abdominal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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