IFT43, intraflagellar transport 43, 112752

N. diseases: 84; N. variants: 28
Disease: LOEYS-DIETZ SYNDROME 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566682530
rs1566682530
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		G 0.700 GeneticVariation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015