Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 Biomarker disease GENOMICS_ENGLAND [Clinical features and mutational analysis of a case with Sensenbrenner syndrome]. 29896747 2018
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 GeneticVariation disease UNIPROT Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 GeneticVariation disease CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 Biomarker disease GENOMICS_ENGLAND De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia. 26892345 2016
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 Biomarker disease GENOMICS_ENGLAND Ciliary disorder of the skeleton. 22791528 2012
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 Biomarker disease GENOMICS_ENGLAND C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 21378380 2011
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 CausalMutation disease CLINVAR
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.600 Biomarker disease GENOMICS_ENGLAND