IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: Kidney Diseases ×
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 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
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