Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907193
rs387907193
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. 28288023

2017
dbSNP: rs387907193
rs387907193
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. 28724397

2017
dbSNP: rs387907193
rs387907193
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. 24009529

2013
dbSNP: rs387907193
rs387907193
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 23418020

2013
dbSNP: rs387907193
rs387907193
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 22503633

2012
dbSNP: rs387907193
rs387907193
IFT140 ; LOC105371046
C 0.800 CausalMutation CLINVAR