IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: Mainzer-Saldino Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307074
rs1085307074
Entrez Id: 9742;105371046
Gene Symbol: IFT140;LOC105371046
IFT140;LOC105371046
CUI: C1849437
Disease:
Mainzer-Saldino Disease 		T 0.700 GeneticVariation CLINVAR Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 23418020 2013