Gene: RFT1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 GeneticVariation disease BEFREE RFT1-congenital disorder of glycosylation (CDG) syndrome, a recessive N-glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non-specific epilepsy. 26892341 2016
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 Biomarker disease GENOMICS_ENGLAND RFT1-CDG in adult siblings with novel mutations. 23111317 2012
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 GeneticVariation disease BEFREE We report on two young adult siblings with RFT1-CDG, compound heterozygotes for the novel missense mutations c.1222A>G (p.M408V) and c.1325G>A (p.R442Q) in RFT1 gene. 23111317 2012
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 GeneticVariation disease UNIPROT RFT1 deficiency in three novel CDG patients. 19701946 2009
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 Biomarker disease BEFREE Recently, the first RFT1-deficient CDG (RFT1-CDG) patient was identified and presented a severe N-glycosylation disorder. 19701946 2009
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 GeneticVariation disease UNIPROT Human RFT1 deficiency leads to a disorder of N-linked glycosylation. 18313027 2008
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 Biomarker disease GENOMICS_ENGLAND Human RFT1 deficiency leads to a disorder of N-linked glycosylation. 18313027 2008
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 CausalMutation disease CLINVAR
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 GeneticVariation disease CLINVAR
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		0.730 Biomarker disease CTD_human