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: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.110 GeneticVariation disease BEFREE In this study, trio whole-exome sequencing of a prospectively identified nephronophthisis (NPHP) proband and her parents identified compound-heterozygous variants in IFT140, a gene previously associated with NPHP-related ciliopathies. 29706353 2018
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.110 Biomarker disease HPO