Disease: Loeys-Dietz Syndrome, Type 1a ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449 2012
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. 21522183 2011
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 19883511 2009
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670 2006
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
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
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757 2005
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a 		G 0.800 CausalMutation CLINVAR