rs111854391, TGFBR1

N. diseases: 18
Disease: Loeys-Dietz Syndrome, Type 1a ×
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 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
Loeys-Dietz Syndrome, Type 1a
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
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
Loeys-Dietz Syndrome, Type 1a
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
Loeys-Dietz Syndrome, Type 1a
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670 2006
Loeys-Dietz Syndrome, Type 1a
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
Loeys-Dietz Syndrome, Type 1a
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
0.800 CausalMutation CLINVAR