Loeys-dietz syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Loeys-Dietz Syndrome C2697932 FBN1 Causal Pathogenic evidence from ClinVar - ClinVar
SMAD3 Causal Pathogenic evidence from ClinVar 22772368, 23161884 ClinVar
TGFB2 Causal Pathogenic evidence from ClinVar 22772368, 23161884 ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar 25835445 ClinVar
TGFBR1 Causal Pathogenic evidence from ClinVar 8242743, 15731757, 16791849, 16799921, 16928994, 18455604, 18703712, 18781618, 19542084, 19883511, 20358619, 21267002, 21358634, 22113417, 22772368, 24355923, 25644172, 26848186, 26877057, 26888179, 27879313 ClinVar
TGFBR2 Causal Pathogenic evidence from ClinVar 12975342, 15235604, 15731757, 16283890, 16799921, 16835936, 16928994, 17330129, 17935258, 18084123, 18781618, 18852674, 19006214, 20358619, 21098638, 21267002, 22095581, 22113417, 22772368, 22772377, 23161884, 23884466, 24220024, 26888179, 27879313, 28182693 ClinVar
COL3A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243125, 26888179 -
SMAD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29392890 -
Loeys-Dietz Aortic Aneurysm Syndrome C1836635 SMAD3 Causal Pathogenic evidence from ClinVar 22772368 ClinVar
TGFB2 Causal Pathogenic evidence from ClinVar 22772368 ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar - ClinVar
TGFBR1 Causal Pathogenic evidence from ClinVar 15731757, 16928994, 20358619, 22772368 ClinVar
TGFBR2 Causal Pathogenic evidence from ClinVar 15235604, 15731757, 16928994, 18084123, 19006214, 20358619, 22772368 ClinVar
LOEYS-DIETZ SYNDROME 3 C3151087 SMAD3 Causal Pathogenic evidence from ClinVar 11285272, 17589920, 21217753, 21778426, 22167769, 23161884, 23782924, 29392890 ClinVar
Loeys-Dietz Syndrome, Type 1a C4551955 SMAD3 Causal Pathogenic evidence from ClinVar 22772368 ClinVar
TGFB2 Causal Pathogenic evidence from ClinVar 22772368 ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar - ClinVar
TGFBR1 Causal Pathogenic evidence from ClinVar 15731757, 16596670, 16791849, 16799921, 16928994, 18070134, 19883511, 20358619, 22113417, 22772368, 24896178, 26888179 ClinVar
TGFBR2 Causal Pathogenic evidence from ClinVar 15235604, 18084123, 19006214, 20358619, 22772368 ClinVar
LOEYS-DIETZ SYNDROME 4 C3553762 TGFB2 Causal Pathogenic evidence from ClinVar 22772368, 22772371, 23161884, 29392890 ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar 1631557, 22943793, 23824657, 24798638, 25835445, 26184463 ClinVar
IFT43 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1631557, 22943793, 23824657, 24798638, 25835445, 26184463 -
RIENHOFF SYNDROME C3810012 TGFB3 Causal Pathogenic evidence from ClinVar 23824657, 24798638, 25835445 ClinVar
IFT43 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Loeys-Dietz syndrome 60030 TGFBR1 Causal Pathogenic evidence from ClinVar - ClinVar
TGFBR2 Causal Pathogenic evidence from ClinVar - ClinVar