Disease ID | Disease name | Source of annotation with RFT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS212065 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4 |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Post-translational protein modification | R-HSA-597592 | 4.54 |
Defective RFT1 causes RFT1-CDG (CDG-1n) | R-HSA-4570571 | 12.98 |
Diseases associated with N-glycosylation of proteins | R-HSA-3781860 | 8.89 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
lipid transporter activity | GO:0005319 | 5.03 |
transporter activity | GO:0005215 | 2.57 |
substrate-specific transporter activity | GO:0022892 | 2.72 |