rs111854391, TGFBR1

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Loeys-Dietz Syndrome, Type 1a
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
0.800 CausalMutation CLINVAR
Aortic Valve Insufficiency
CUI: C0003504
Disease: Aortic Valve Insufficiency
0.700 CausalMutation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. 25521989 2014
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
0.700 CausalMutation CLINVAR
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
0.700 CausalMutation CLINVAR
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
0.700 CausalMutation CLINVAR
Flatfoot
CUI: C0016202
Disease: Flatfoot
0.700 CausalMutation CLINVAR
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
0.700 CausalMutation CLINVAR
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
0.700 CausalMutation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849 2006
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730 2015
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
0.700 CausalMutation CLINVAR
Tricuspid Valve Prolapse
CUI: C0040962
Disease: Tricuspid Valve Prolapse
0.700 CausalMutation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670 2006
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
0.700 CausalMutation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. 22414221 2012
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 CausalMutation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 CausalMutation CLINVAR
Abnormal cardiac ventricle morphology
CUI: C4025752
Disease: Abnormal cardiac ventricle morphology
0.700 CausalMutation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 18781618 2008
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 CausalMutation CLINVAR
Loeys-Dietz Syndrome, Type 1a
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849 2006