IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.120 GeneticVariation group BEFREE As such, this study represents a "proof of concept" for using proband-derived iPSCs to model renal disease and illustrates dysfunctional cellular pathways beyond the primary cilium in the setting of IFT140 mutations, which are established for other NPHP genotypes. 29706353 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.120 Biomarker group BEFREE The present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy. 23418020 2013
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.120 Biomarker group HPO