IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: Thoracic dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		0.110 GeneticVariation disease BEFREE IFT172 is a member of the IFT complex B, and IFT172 mutation is associated with pathologies including short rib thoracic dysplasia, retinitis pigmentosa and Bardet-Biedl syndrome, but how it underpins these conditions is not clear. 31850339 2019
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		0.110 Biomarker disease HPO