IFT43, intraflagellar transport 43, 112752

N. diseases: 84; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140366557
rs140366557
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
CUI: C4693443
Disease:
RETINITIS PIGMENTOSA 81 		A 0.800 GeneticVariation CLINVAR A mutation in IFT43 causes non-syndromic recessive retinal degeneration. 28973684 2017
dbSNP: rs140366557
rs140366557
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
CUI: C4693443
Disease:
RETINITIS PIGMENTOSA 81 		0.800 GeneticVariation UNIPROT A mutation in IFT43 causes non-syndromic recessive retinal degeneration. 28973684 2017
dbSNP: rs1555369050
rs1555369050
Entrez Id: 112752;105370573
Gene Symbol: IFT43;LOC105370573
IFT43;LOC105370573
CUI: C4693420
Disease:
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		0.800 GeneticVariation UNIPROT Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
dbSNP: rs1555369050
rs1555369050
Entrez Id: 112752;105370573
Gene Symbol: IFT43;LOC105370573
IFT43;LOC105370573
CUI: C4693420
Disease:
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		C 0.800 GeneticVariation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
dbSNP: rs398122984
rs398122984
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3810012
Disease:
RIENHOFF SYNDROME 		0.800 GeneticVariation UNIPROT 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: rs1555369050
rs1555369050
Entrez Id: 112752;105370573
Gene Symbol: IFT43;LOC105370573
IFT43;LOC105370573
CUI: C4693420
Disease:
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs398122984
rs398122984
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3810012
Disease:
RIENHOFF SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs3917211
rs3917211
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: rs1555360883
rs1555360883
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
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
dbSNP: rs796051885
rs796051885
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		A 0.700 CausalMutation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
dbSNP: rs796051885
rs796051885
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 26184463 2015
dbSNP: rs796051885
rs796051885
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		A 0.700 CausalMutation CLINVAR De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 24798638 2014
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: rs9323624
rs9323624
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
CUI: C0002994
Disease:
Angioedema 		A 0.700 GeneticVariation GWASCAT Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. 24236485 2013
dbSNP: rs9323624
rs9323624
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
CUI: C0042109
Disease:
Urticaria 		A 0.700 GeneticVariation GWASCAT Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. 24236485 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: rs3917153
rs3917153
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs3917153
rs3917153
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs3917210
rs3917210
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C0489786
Disease:
Height 		0.700 GeneticVariation GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676 2011
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
dbSNP: rs1057523647
rs1057523647
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060502826
rs1060502826
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060502827
rs1060502827
Entrez Id: 7043;112752
Gene Symbol: TGFB3;IFT43
TGFB3;IFT43
CUI: C3553762
Disease:
LOEYS-DIETZ SYNDROME 4 		C 0.700 CausalMutation CLINVAR