×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
CTD_human
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
22772368
2012
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
Biomarker
disease
CTD_human
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
22772368
2012
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
Biomarker
disease
CTD_human
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
20358619
2010
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
CTD_human
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
20358619
2010
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
CTD_human
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
19006214
2008
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
CTD_human
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
18084123
2007
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
GeneticVariation
disease
BEFREE
(2004); Nat Genet 36:855-860] and of TGFBR1 and TGFBR2 mutations in Loeys-Dietz aortic aneurysm syndrome (LDS ) [Loeys et al.
16596670
2006
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
GermlineCausalMutation
disease
ORPHANET
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
BEFREE
Reexamination of patients with a TGFBR1 or TGFBR2 mutation revealed extensive clinical overlap between patients with MFS1, MFS2 , and LDS .
16799921
2006
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
GeneticVariation
disease
BEFREE
Mutations in both TGFBR1 and TGFBR2 are associated with Loeys-Dietz aortic aneurysm syndrome (LDS ).
16799921
2006
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
GermlineCausalMutation
disease
ORPHANET
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
BEFREE
Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2 ) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS ).
16791849
2006
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
Biomarker
disease
BEFREE
Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1 ) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS ).
16791849
2006
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
GeneticVariation
disease
BEFREE
(2004); Nat Genet 36:855-860] and of TGFBR1 and TGFBR2 mutations in Loeys-Dietz aortic aneurysm syndrome (LDS ) [Loeys et al.
16596670
2006
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
GermlineCausalMutation
disease
ORPHANET
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
GermlineCausalMutation
disease
ORPHANET
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
CTD_human
Heterozygous TGFBR2 mutations in Marfan syndrome.
15235604
2004
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.730
Biomarker
disease
MGD
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.730
Biomarker
disease
MGD
×
Entrez Id:
7042
Gene Symbol:
TGFB2
TGFB2
0.500
Biomarker
disease
CTD_human
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
22772368
2012
×
Entrez Id:
7042
Gene Symbol:
TGFB2
TGFB2
0.500
Biomarker
disease
MGD
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
0.300
Biomarker
disease
CTD_human
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
22772368
2012
×
Entrez Id:
7043
Gene Symbol:
TGFB3
TGFB3
0.300
Biomarker
disease
CTD_human