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: rs1555360362
rs1555360362
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		T 0.700 GeneticVariation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
dbSNP: rs1555360362
rs1555360362
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		T 0.700 GeneticVariation CLINVAR A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 23824657 2013
dbSNP: rs1555360362
rs1555360362
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		T 0.700 GeneticVariation CLINVAR TGF-β - an excellent servant but a bad master. 22943793 2012
dbSNP: rs1555360362
rs1555360362
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		T 0.700 GeneticVariation CLINVAR Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. 1631557 1992