Gene table of MPDU1 : mannose-P-dolichol utilization defect 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MPDU1	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

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Defective MPDU1 causes MPDU1-CDG (CDG-1f)	R-HSA-4687000	12.98
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
Diseases associated with N-glycosylation of proteins	R-HSA-3781860	8.89
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46