GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **451 - 475** of **2090** in total

« First

‹ Prev

…

15

16

17

18

19

20

21

22

23

…

Next ›

Last »
Pathway Name ▲	Protein Name	UniProt ID	Gene Symbol
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 MSH3	DNA mismatch repair protein Msh2 DNA mismatch repair protein Msh3	P20585 P43246	DUC1 DUG MSH2 MSH3
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 PMS2	DNA mismatch repair protein Mlh1 Mismatch repair endonuclease PMS2	P40692 P54278	COCA2 MLH1 PMS2 PMSL2
Defective NEU1 causes sialidosis	Beta-galactosidase Lysosomal protective protein Sialidase-1	P10619 P16278 Q99519	CTSA ELNR1 GLB1 NANH NEU1 PPGB
Defective OPLAH causes OPLAHD	5-oxoprolinase	O14841	OPLAH
Defective PAPSS2 causes SEMD-PA	Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	O95340	ATPSK2 PAPSS2
Defective PGM1 causes CDG1t	Phosphoglucomutase-1	P36871	PGM1
Defective PMM2 causes CDG-1a	Phosphomannomutase 2	O15305	PMM2
Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine	Purine nucleoside phosphorylase	P00491	NP PNP
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 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 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 RHAG causes regulator type Rh-null hemolytic anemia (RHN)	Ammonium transporter Rh type A	Q02094	RH50 RHAG
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 SERPING1 causes hereditary angioedema	Coagulation factor XII Plasma kallikrein Plasma protease C1 inhibitor	P00748 P03952 P05155	C1IN C1NH F12 KLK3 KLKB1 SERPING1
Defective SFTPA2 causes IPF	Pulmonary surfactant-associated protein A2	Q8IWL1	COLEC5 PSAP SFTP1 SFTPA SFTPA2 SFTPA2B
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)	Natural resistance-associated macrophage protein 2	P49281	DCT1 DMT1 NRAMP2 SLC11A2
Defective SLC12A1 causes Bartter syndrome 1 (BS1)	Solute carrier family 12 member 1	Q13621	NKCC2 SLC12A1
Defective SLC12A3 causes Gitelman syndrome (GS)	Solute carrier family 12 member 3	P55017	NCC SLC12A3 TSC
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	Solute carrier family 12 member 6	Q9UHW9	KCC3 SLC12A6
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)	Basigin Monocarboxylate transporter 1	P35613 P53985	BSG MCT1 SLC16A1
Defective SLC17A5 causes Salla disease (SD) and ISSD	Sialin	Q9NRA2	SLC17A5
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)	Vesicular glutamate transporter 3	Q8NDX2	SLC17A8 VGLUT3
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)	Excitatory amino acid transporter 3	P43005	EAAC1 EAAT3 HEAAC1 SLC1A1

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

International Collaboration

Acknowledgements