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Symbol Name ID |
Smad4
SMAD family member 4 MGI:894293 |
| Darker colors indicate more annotations |
| Human Phenotypes | Gastrointestinal hemorrhage |
Hematemesis |
Hematochezia |
Melena |
Cerebral hemorrhage |
Subarachnoid hemorrhage |
Pulmonary hemorrhage |
Spontaneous hematomas |
Lip telangiectasia |
Oral cavity telangiectasia |
Palate telangiectasia |
Tongue telangiectasia |
Nasal mucosa telangiectasia |
Conjunctival telangiectasia |
Palmar telangiectasia |
Cardiac diverticulum |
Mitral valve prolapse |
Aortic aneurysm |
Aortic dissection |
Dilatation of celiac artery |
Dilatation of mesenteric artery |
Arteriovenous fistulas of celiac and mesenteric vessels |
Venous varicosities of celiac and mesenteric vessels |
Arteriovenous malformation |
Peripheral arteriovenous fistula |
Cerebral arteriovenous malformation |
Gastrointestinal arteriovenous malformation |
Hepatic arteriovenous malformation |
Pulmonary arteriovenous malformation |
Spinal arteriovenous malformation |
Abnormal cerebral vascular morphology |
Stroke |
Ischemic stroke |
Transient ischemic attack |
Gastrointestinal angiodysplasia |
Gastrointestinal telangiectasia |
Abnormal cardiovascular system physiology |
Mitral regurgitation |
Hypertension |
Portal hypertension |
Pulmonary arterial hypertension |
Pulmonary embolism |
Right-to-left shunt |
Congestive heart failure |
High-output congestive heart failure |
Lymphadenopathy |
Hepatosplenomegaly |
Retinal telangiectasia |
Cavernous hemangioma |
Visceral angiomatosis |
Telangiectasia |
Mucosal telangiectasiae |
Nail bed telangiectasia |
Telangiectasia of the skin |
Facial telangiectasia |
Fingerpad telangiectases |
| Disease(s) Associated with SMAD4 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| hereditary hemorrhagic telangiectasia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| juvenile polyposis syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lynch syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| pancreatic cancer |
| Mouse Phenotypes | abnormal vitelline vasculature morphology |
abnormal trabecula carnea morphology |
thin ventricle myocardium compact layer |
absent atrioventricular cushions |
double outlet right ventricle |
ventricular septal defect |
abnormal heart right ventricle morphology |
abnormal heart ventricle outflow tract morphology |
|
| Availability | Mouse Genotype | ||||||||
| Smad4tm2.1Cxd/Smad4tm2.1Cxd Kdrtm1(cre)Sato/Kdr+ (conditional) |
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| Smad4tm2.1Cxd/Smad4tm2.1Cxd Tg(ACTA1-cre)AMcle/0 (conditional) |
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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 04/23/2024 MGI 6.23 |
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