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: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease
0.510 GermlineCausalMutation disease ORPHANET In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. 24140113 2013
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease
0.510 Biomarker disease GENOMICS_ENGLAND In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. 24140113 2013
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease
0.510 Biomarker disease BEFREE In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. 24140113 2013