IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.030 Biomarker disease BEFREE This mouse model exhibits key features of the retinal phenotype observed in patients with IFT172-associated blindness and can be used for in vivo testing of ciliopathy therapies. 29659833 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.030 GeneticVariation disease BEFREE It has recently been reported that mutations in IFT172 cause a severe ciliopathy syndrome involving skeletal, renal, hepatic and retinal abnormalities (Jeune and Mainzer-Saldino syndromes). 25168386 2015
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.030 GeneticVariation disease BEFREE Whole-exome sequencing demonstrated compound heterozygous mutations of IFT172, thus consistent with a ciliopathy. 25664603 2015