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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:0050466
Term: Loeys-Dietz syndrome
Definition: A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_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)
Tgfbr2 ISOTGFBR2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15235604 PMID:18084123 PMID:19006214 PMID:20358619 PMID:22772368
Tgfbr2 ISOTGFBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1APMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20628007 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26948038 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28991257 PMID:29168297 PMID:29543232 PMID:29907982 PMID:30158670 PMID:30222965 PMID:30739908 PMID:32152251 PMID:32560555 PMID:32887874 PMID:34572573 PMID:36103205 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040
Tgfbr2 ISOTGFBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1APMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:29168297 PMID:29543232 PMID:30158670 PMID:30739908 PMID:32152251 PMID:32560555 PMID:32887874 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040
Tgfbr2 ISOTGFBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1APMID:10362519 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20628007 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24465802 PMID:24470074 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26467025 PMID:26580448 PMID:26948038 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28218435 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28991257 PMID:29168297 PMID:29192238 PMID:29543232 PMID:29703253 PMID:29907982 PMID:30158670 PMID:30222965 PMID:30739908 PMID:31338350 PMID:31769227 PMID:32152251 PMID:32560555 PMID:32887874 PMID:34572573 PMID:36103205 PMID:36672844 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040
Tgfbr2 ISOTGFBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1APMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27100340 PMID:27146836 PMID:27508510 PMID:27879313 PMID:27930701 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:29168297 PMID:29543232 PMID:30158670 PMID:32560555 PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040
Tgfbr2 ISSTgfbr2 (Mus musculus)13592920MouseDO  
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