IFT43, intraflagellar transport 43, 112752

N. diseases: 84; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.610 Biomarker disease GENOMICS_ENGLAND [Clinical features and mutational analysis of a case with Sensenbrenner syndrome]. 29896747 2018
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.610 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
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.610 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.610 Biomarker disease GENOMICS_ENGLAND Ciliary disorder of the skeleton. 22791528 2012
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.610 GeneticVariation disease BEFREE C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 21378380 2011
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.610 Biomarker disease CTD_human
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND [Clinical features and mutational analysis of a case with Sensenbrenner syndrome]. 29896747 2018
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		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
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		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
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		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
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		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
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Ciliary disorder of the skeleton. 22791528 2012
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 21378380 2011
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		0.600 CausalMutation disease CLINVAR
CUI: C4693420
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4693443
Disease: RETINITIS PIGMENTOSA 81
RETINITIS PIGMENTOSA 81 		0.400 GeneticVariation disease UNIPROT A mutation in IFT43 causes non-syndromic recessive retinal degeneration. 28973684 2017
CUI: C4693443
Disease: RETINITIS PIGMENTOSA 81
RETINITIS PIGMENTOSA 81 		0.400 GeneticVariation disease CLINVAR A mutation in IFT43 causes non-syndromic recessive retinal degeneration. 28973684 2017
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		0.300 Biomarker disease GENOMICS_ENGLAND [Clinical features and mutational analysis of a case with Sensenbrenner syndrome]. 29896747 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 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
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		0.300 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
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		0.300 Biomarker disease GENOMICS_ENGLAND Ciliary disorder of the skeleton. 22791528 2012
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		0.300 Biomarker disease GENOMICS_ENGLAND C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 21378380 2011
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		0.300 Biomarker disease GENOMICS_ENGLAND