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GENE - TERM ANNOTATION REPORT

RGD ID: 69651
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tgfbr2
Name: transforming growth factor, beta receptor 2
Acc ID: DOID:14323
Term: Marfan syndrome
Definition: A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance "DO" "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807 "DO" "DO", https://rarediseases.org/rare-diseases/marfan-syndrome/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Tgfbr2susceptibilityISOTGFBR2 (Homo sapiens)1579928RGDDNA:point mutation, missense mutations: :multiple 
Tgfbr2 ISOTGFBR2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15235604
Tgfbr2 ISOTGFBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndromePMID:10362519 PMID:11212236 PMID:12825850 PMID:15235604 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17935258 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:20144264 PMID:21251594 PMID:21524434 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24465802 PMID:24470074 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26467025 PMID:26580448 PMID:27930701 PMID:28162229 PMID:28218435 PMID:28492532 PMID:29192238 PMID:29703253 PMID:29907982 PMID:30158670 PMID:30222965 PMID:30739908 PMID:31338350 PMID:31769227 PMID:32152251 PMID:34572573 PMID:36672844 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922
Tgfbr2 ISOTGFBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndromePMID:11212236 PMID:12825850 PMID:16249459 PMID:16251899 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17935258 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:21251594 PMID:21524434 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28492532 PMID:30158670 PMID:30739908 PMID:32152251 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922
Tgfbr2 ISOTGFBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndromePMID:11212236 PMID:12825850 PMID:16249459 PMID:16251899 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17935258 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:21251594 PMID:21524434 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:25786579 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28492532 PMID:30158670 PMID:30739908 PMID:32152251 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922
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