IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: Jeune thoracic dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.500 Biomarker disease GENOMICS_ENGLAND Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.500 GermlineCausalMutation disease ORPHANET Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013