GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **1626 - 1650** of **2090** in total

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Pathway Name ▼	Protein Name	UniProt ID	Gene Symbol
Defective RIPK1-mediated regulated necrosis	Caspase-8 FAS-associated death domain protein Receptor-interacting serine/threonine-protein kinase 1 TNF receptor-associated factor 2 Tumor necrosis factor receptor type 1-associated DEATH domain protein	Q12933 Q13158 Q13546 Q14790 Q15628	CASP8 FADD MCH5 MORT1 RIP RIP1 RIPK1 TRADD TRAF2 TRAP3
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)	Ammonium transporter Rh type A	Q02094	RH50 RHAG
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2	Dystroglycan 1 Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 2	Q14118 Q9UKY4 Q9Y6A1	DAG1 POMT1 POMT2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1	Dystroglycan 1 Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 2	Q14118 Q9UKY4 Q9Y6A1	DAG1 POMT1 POMT2
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3	Dystroglycan 1 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	Q14118 Q8WZA1	DAG1 MGAT1.2 POMGNT1
Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine	Purine nucleoside phosphorylase	P00491	NP PNP
Defective PMM2 causes CDG-1a	Phosphomannomutase 2	O15305	PMM2
Defective PGM1 causes CDG1t	Phosphoglucomutase-1	P36871	PGM1
Defective PAPSS2 causes SEMD-PA	Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	O95340	ATPSK2 PAPSS2
Defective OPLAH causes OPLAHD	5-oxoprolinase	O14841	OPLAH
Defective NEU1 causes sialidosis	Beta-galactosidase Lysosomal protective protein Sialidase-1	P10619 P16278 Q99519	CTSA ELNR1 GLB1 NANH NEU1 PPGB
Defective Mismatch Repair Associated With PMS2	DNA mismatch repair protein Mlh1 Mismatch repair endonuclease PMS2	P40692 P54278	COCA2 MLH1 PMS2 PMSL2
Defective Mismatch Repair Associated With MSH6	DNA mismatch repair protein Msh2 DNA mismatch repair protein Msh6	P43246 P52701	GTBP MSH2 MSH6
Defective Mismatch Repair Associated With MSH3	DNA mismatch repair protein Msh2 DNA mismatch repair protein Msh3	P20585 P43246	DUC1 DUG MSH2 MSH3
Defective Mismatch Repair Associated With MSH2	DNA mismatch repair protein Msh2 DNA mismatch repair protein Msh3 DNA mismatch repair protein Msh6	P20585 P43246 P52701	DUC1 DUG GTBP MSH2 MSH3 MSH6
Defective Mismatch Repair Associated With MLH1	DNA mismatch repair protein Mlh1 Mismatch repair endonuclease PMS2	P40692 P54278	COCA2 MLH1 PMS2 PMSL2
Defective MUT causes MMAM	Methylmalonic aciduria type A protein, mitochondrial Methylmalonyl-CoA mutase, mitochondrial	P22033 Q8IVH4	MMAA MMUT MUT
Defective MTRR causes HMAE	Methionine synthase reductase Methionine synthase	Q99707 Q9UBK8	MTR MTRR
Defective MTR causes HMAG	Methionine synthase reductase Methionine synthase	Q99707 Q9UBK8	MTR MTRR
Defective MPI causes CDG-1b	Mannose-6-phosphate isomerase	P34949	MPI PMI1
Defective MPDU1 causes CDG-1f	Mannose-P-dolichol utilization defect 1 protein	O75352	MPDU1
Defective MOGS causes CDG-2b	Mannosyl-oligosaccharide glucosidase	Q13724	GCS1 MOGS
Defective MMAB causes MMA, cblB type	Corrinoid adenosyltransferase MMAB	Q96EY8	MMAB
Defective MMAA causes MMA, cblA type	Methylmalonic aciduria type A protein, mitochondrial Methylmalonyl-CoA mutase, mitochondrial	P22033 Q8IVH4	MMAA MMUT MUT
Defective MGAT2 causes CDG-2a	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	Q10469	MGAT2

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