IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: RETINITIS PIGMENTOSA 80 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.400 GeneticVariation disease UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340 2016
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.400 GeneticVariation disease UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735 2016
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.400 GeneticVariation disease UNIPROT Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056 2015
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.400 CausalMutation disease CLINVAR