IFT80, intraflagellar transport 80, 57560

N. diseases: 109; N. variants: 10
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 GeneticVariation disease BEFREE We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS. 30767363 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 GeneticVariation disease BEFREE We studied the case of a female child with a novel ciliopathy phenotype and identified two novel mutations in the gene IFT80. 29923190 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease GENOMICS_ENGLAND