Publication for PMM2 and ALG1

Species	Symbol	Function*	Entrez Gene ID*	Other ID	Gene coexpression	CoexViewer
hsa	PMM2	phosphomannomutase 2	5373			[link]
hsa	ALG1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	56052

Pubmed ID	Priority	Text
30770376	0.98	PMM2, MPI, GMPPA, GMPPB, PGM3, NGLY1, DOLK, DHDSS, DPAGT1, ALG13, ALG14, ALG1, ALG2, ALG11, RFT1, DPM1-3, MPDU1, ALG3, ALG9, ALG12, ALG6, ALG8, UGP2, GALE, ALG5, ALG10, MOGS, GMDS, TSTA3, GK, FPGT, FUK, SLC35C1, SLC35A2, SLC35A3, GNE, NANS, NANP, CMAS, PGM1, and CAD.
	0.95	ALG1-CDG (red), ALG9-CDG, PMM2-CDG (blue), DDOST-CDG (purple), and STT3B-CDG (pink).
	0.89	ALG1-, PMM2-, and ALG9-CDG with our new ESI-QTOF assay.
24831587	0.98	PMM2-CDG, MPI-CDG, and ALG1-CDG (Fig. 1g) Several CDG forms involve immune deficiency.
26430078	0.97	ALG1 (ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase), PMM2 (phosphomannomutase 2), and MPI (mannose phosphate isomerase).
	0.97	ALG1-CDG, PMM2-CDG, or MPI-CDG, which are the CDG types caused by ALG1 [ALG1 (asparagine-linked glycosylation protein 1), chitobiosyldiphosphodolichol beta-mannosyltransferase],12 PMM2 (phosphomannomutase 2), and MPI (mannose phosphate isomerase), respectively.
	0.97	ALG1-CDG, and 20 patients with PMM2-CDG.
	0.96	ALG1-, PMM2-, or MPI-CDG for screening of these 3 common CDG subtypes that comprise >70% of CDG type I patients.
	0.96	PMM2-CDG, plasma N-glycan), Fig. 1H (PMM2-CDG, purified transferrin N-glycan), and Fig. 3E (MPI-CDG, plasma N-glycan), the N-tetrasaccharide was present in patients with PMM2-CDG and MPI-CDG, although its concentration was lower than in patients with ALG1-CDG.
	0.96	ALG1-CDG transferrin, this tetrasaccharide was 13.8% of the major biantennary glycans, in contrast to 2% for PMM2-CDG transferrin.
	0.96	ALG1-CDG and PMM2-CDG samples showed that the tetrasaccharide comprised 34% and 5% of the biantennary glycans (Fig. 1, B and C).
	0.96	ALG1-CDG and instead supports a diagnosis of PMM2-CDG or MPI-CDG.
	0.96	ALG1-CDG or PMM2-CDG therefore highlights the potential for identifying biomarkers usable in cellular models.
	0.96	ALG1-CDG and PMM2-CDG
	0.95	ALG1-CDG, PMM2-CDG, and MPI-CDG patients had substantially more N-tetrasaccharide than unaffected controls.
	0.95	PMM2-CDG and MPI-CDG, but not in patients with ALG1-CDG.
	0.95	ALG1-CDG (mutations and putative mutations from patients with ALG1-CDG are shown in Table 1), 20 patients with PMM2-CDG, 1 patient with MPI-CDG, and 20 unaffected controls showed that the N-tetrasaccharide was undetectable in all the controls and present in all the patients with PMM2-CDG or ALG1-CDG (Fig. 2E).
	0.95	PMM2-CDG (B) and ALG1-CDG (C) cells.
	0.94	ALG1-CDG and PMM2-CDG or MPI-CDG that is important because it facilitates diagnosis of the 3 most common type I CDGs.
	0.93	ALG1-CDG and 0.02 in PMM2-CDG, vs a ratio of 2 between disialylated N-glycan at m/z 2792 and transferrin monomers in an unaffected control (Table 2).
	0.93	ALG1-CDG, PMM2-CDG, and MPI-CDG suggested that this small N-glycan reflected a deficiency in mannosylation.
	0.93	ALG1-CDG treated with PNGase F, and total released N-glycans labeled with aniline and measured by the same LC-MS/MS method. (D), Calibration curve of tetrasaccharide with synthesized standard. (E), Concentrations of N-tetrasaccharide in 20 controls (gray), 20 patients with PMM2-CDG (green), and 10 patients with ALG1-CDG (red). (F), Ratio between N-tetrasaccharide and Man3GlcNAc2 in 20 controls, 20 patients with PMM2-CDG, and 10 patients with putative or proven ALG1-CDG.
	0.92	ALG1-CDG and PMM2-CDG (Table 2), on the basis of these preliminary studies, it is a potential diagnostic biochemical marker.
	0.92	ALG1-CDG by routine transferrin analysis with ESI-MS, the concentrations detected are very low and are undetectable in PMM2-CDG or MPI-CDG.
	0.86	ALG1-CDG and 5 patients with PMM2-CDG, but not control fibroblasts (Fig. 3, A-C).
	0.54	ALG1-CDG and within the reference range or low in patients with PMM2-CDG or MPI-CDG (Fig. 2F).
	0.53	PMM2-CDG (1.2) and lower limit of ALG1-CDG (15) are shown with dotted lines.
25667580	0.97	chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1), phosphomannomutase 2 (PMM2), and scavenger receptor class B, member 2 (SCARB2).
26931382	0.96	ALG1-CDG cases (trace amounts are detected in PMM2-CDG and MPI-CDG cases), it serves as a biomarker for either detecting or confirming a diagnosis of ALG1-CDG.
26125015	0.95	phosphomannomutase 2 (PMM2) provide key sugar substrate and beta-1,4-mannosyltransferase (ALG1) adds the first mannose.
27725718	0.94	PMM2-CDG, ALG11-CDG, ALG1-CDG, ALG6-CDG, MPDU1-CDG and RFT1-CDG patients, and grouped into severe, moderate and mild phenotypes.
	0.89	PMM2-CDG, ALG11-CDG, ALG1-CDG, ALG6-CDG, MPDU1-CDG, RFT1-CDG, see Table 2).
23776380	0.93	ALG1-CDG (CDG-Ik) and PMI-CDG (CDG-Ib) may be the most frequent after PMM2-CDG (CDG-Ia) and present at the severe end of the CDG I clinical spectrum.
26066342	0.90	PMM2-CDG and ALG1-CDG.
26335155	0.88	ALG1-CDG (closed diamonds, n=11), PMM2-CDG (closed triangles, n=8), RFT1-CDG (closed circles, n=4), PMI-CDG (closed squares, n=2), suspected CDG according to IEF or CDT (open circles, n=20) and CDT-positivity post excessive alcohol consumption (open diamonds, n=100) are shown.
	0.85	ALG1-CDG, PMM2-CDG, suspected CDG and individuals with alcohol abuse.
27343064	0.75	PMM2, ALG6, ALG7, ALG13/14, ALG1, ALG2, DPM1/2/3, DOLK MPDU1, and ALG11) did not reveal potential disease causing variants.