GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **2051 - 2075** of **2090** in total

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Pathway Name	Protein Name	UniProt ID ▲	Gene Symbol	GlyTouCan ID
Defective MTRR causes HMAE	Methionine synthase reductase Methionine synthase	Q99707 Q9UBK8	MTR MTRR
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)	Hephaestin Solute carrier family 40 member 1	Q9BQS7 Q9NP59	FPN FPN1 HEPH IREG1 KIAA0698 SLC11A3 SLC40A1
Defective ALG1 causes CDG-1k	Chitobiosyldiphosphodolichol beta-mannosyltransferase	Q9BT22	ALG1 HMAT1 HMT1
Toll Like Receptor 10 (TLR10) Cascade	Toll-like receptor 10	Q9BXR5	TLR10
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)	Equilibrative nucleoside transporter 3	Q9BZD2	ENT3 SLC29A3
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)	High affinity choline transporter 1	Q9GZV3	CHT1 SLC5A7
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)	High affinity choline transporter 1	Q9GZV3	CHT1 SLC5A7
FGFR1c and Klotho ligand binding and activation	Fibroblast growth factor 23	Q9GZV9	FGF23 HYPF
ZBP1(DAI) mediated induction of type I IFNs	Z-DNA-binding protein 1	Q9H171	C20orf183 DLM1 ZBP1
Defective ABCG8 causes GBD4 and sitosterolemia	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 8	Q9H221 Q9H222	ABCG5 ABCG8
Defective ABCG5 causes sitosterolemia	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 8	Q9H221 Q9H222	ABCG5 ABCG8
Defective DPAGT1 causes CDG-1j, CMSTA2	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	Q9H3H5	DPAGT1 DPAGT2
Defective ALG9 causes CDG-1l	Alpha-1,2-mannosyltransferase ALG9	Q9H6U8	ALG9 DIBD1
Tandem pore domain halothane-inhibited K+ channel (THIK)	Potassium channel subfamily K member 13	Q9HB14	KCNK13
Defective ABCB6 causes MCOPCB7	ATP-binding cassette sub-family B member 6	Q9NP58	ABCB6 MTABC3 PRP UMAT
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)	Sodium- and chloride-dependent transporter XTRP3	Q9NP91	SIT1 SLC6A20 XT3 XTRP3
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)	Sodium- and chloride-dependent transporter XTRP3	Q9NP91	SIT1 SLC6A20 XT3 XTRP3
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)	Solute carrier organic anion transporter family member 1B3	Q9NPD5	LST2 OATP1B3 OATP8 SLC21A8 SLCO1B3
Toll Like Receptor 7/8 (TLR7/8) Cascade	Toll-like receptor 7 Toll-like receptor 8	Q9NR97 Q9NYK1	TLR7 TLR8
Defective SLC17A5 causes Salla disease (SD) and ISSD	Sialin	Q9NRA2	SLC17A5
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)	Solute carrier family 2, facilitated glucose transporter member 9	Q9NRM0	GLUT9 SLC2A9	G58161NS
Defective regulation of TLR7 by endogenous ligand	Toll-like receptor 7	Q9NYK1	TLR7
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	Solute carrier family 12 member 6	Q9UHW9	KCC3 SLC12A6

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