IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: Short rib dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		0.200 Biomarker disease MGD Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. 23469164 2013
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		0.200 Biomarker disease MGD Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. 24009529 2013