|
Symbol Name ID |
Eln
elastin MGI:95317 |
| Darker colors indicate more annotations |
| Human Phenotypes | Gastrointestinal hemorrhage |
Retinal hemorrhage |
Cerebral hemorrhage |
Bruising susceptibility |
Retinal arteriolar tortuosity |
Retinal arteritis |
Abnormal cardiovascular system morphology |
Atrial septal defect |
Ventricular septal defect |
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis |
Abnormal endocardium morphology |
Bicuspid aortic valve |
Mitral valve prolapse |
Myxomatous mitral valve degeneration |
Restrictive cardiomyopathy |
Pericarditis |
Abdominal aortic aneurysm |
Aortic dissection |
Pulmonary artery stenosis |
Peripheral pulmonary artery stenosis |
Coronary artery atherosclerosis |
Coronary artery stenosis |
Renal artery stenosis |
Medial calcification of large arteries |
Medial calcification of medium-sized arteries |
Arterial stenosis |
Peripheral arterial stenosis |
Premature occlusive vascular stenosis |
Arteriosclerosis |
Atherosclerosis |
Accelerated atherosclerosis |
Vascular dilatation |
Vasculitis |
Abnormal cerebral vascular morphology |
Stroke |
Aortic regurgitation |
Supravalvular aortic stenosis |
Mitral regurgitation |
Mitral stenosis |
Pulmonic stenosis |
Hypertension |
Renovascular hypertension |
Portal hypertension |
Weak pulse |
Intermittent claudication |
Raynaud phenomenon |
Cerebral ischemia |
Arrhythmia |
Sudden cardiac death |
Angina pectoris |
Congestive heart failure |
Lymphadenopathy |
Mediastinal lymphadenopathy |
Telangiectasia |
Telangiectasia of the skin |
| Disease(s) Associated with ELN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| abdominal aortic aneurysm | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal dominant cutis laxa 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| pseudoxanthoma elasticum | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| rheumatoid arthritis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| supravalvular aortic stenosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| systemic lupus erythematosus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| systemic scleroderma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| temporal arteritis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Williams-Beuren syndrome |
| Mouse Phenotypes | abnormal artery morphology |
abnormal artery development |
abnormal pulmonary artery morphology |
abnormal aorta wall morphology |
abnormal aorta elastic tissue morphology |
decreased aorta elastin content |
decreased aorta wall thickness |
increased aorta wall thickness |
abnormal subclavian artery morphology |
artery stenosis |
abnormal blood vessel elastic tissue morphology |
abnormal vascular smooth muscle morphology |
cardiac hypertrophy |
abnormal aortic valve morphology |
abnormal aortic valve annulus morphology |
abnormal cardiovascular system physiology |
increased cardiac output |
increased cardiac stroke volume |
hypertension |
increased mean systemic arterial blood pressure |
increased systemic arterial diastolic blood pressure |
increased systemic arterial systolic blood pressure |
abnormal blood vessel physiology |
abnormal vascular wound healing |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||
| Elntm1Dyl/Elntm1Dyl | |||||||||||||||||||||||||
| Elntm1Dyl/Eln+ | |||||||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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