IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.420 GeneticVariation disease BEFREE This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease. 26968735 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.420 GermlineCausalMutation disease ORPHANET Exome sequencing data analysis led to the identification of IFT140 variants in multiple unrelated non-syndromic LCA and RP cases. 26216056 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.420 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.420 GeneticVariation disease BEFREE Exome sequencing data analysis led to the identification of IFT140 variants in multiple unrelated non-syndromic LCA and RP cases. 26216056 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.420 GeneticVariation disease CLINVAR