IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: Nijmegen Breakage Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.010 GeneticVariation disease BEFREE This is the second report of IFT172 mutations in BBS patients validating IFT172 as the twentieth BBS gene (BBS20). 26763875 2016