Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.320 GeneticVariation BEFREE These observations make it likely that, although IFT122 is essential for ciliogenesis, CED-type missense mutations underlie a skeletal ciliopathy phenotype by perturbing ciliary protein trafficking with minor effects on ciliogenesis per se. 29220510

2018
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.320 Biomarker GENOMICS_ENGLAND Because not all of our patients harbored mutations in IFT122, CED seems to be genetically heterogeneous. 20493458

2010
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.320 Biomarker BEFREE Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base. 10631145

2000