IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: Ataxia Telangiectasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 Biomarker disease BEFREE In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. 24140113 2013