IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: RETINITIS PIGMENTOSA 71 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 GeneticVariation disease UNIPROT Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. 25168386 2015
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 Biomarker disease GENOMICS_ENGLAND Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 Biomarker disease CTD_human
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 CausalMutation disease CLINVAR