GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1601 - 1625** of **2090** in total

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Pathway Name ▼	Protein Name	UniProt ID	Gene Symbol	GlyTouCan ID
Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)	Sodium-dependent phosphate transport protein 2A	Q06495	NPT2 SLC17A2 SLC34A1
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)	Acetyl-coenzyme A transporter 1	O00400	ACATN AT1 SLC33A1
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)	Solute carrier family 2, facilitated glucose transporter member 9	Q9NRM0	GLUT9 SLC2A9	G58161NS
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)	Solute carrier family 2, facilitated glucose transporter member 2	P11168	GLUT2 SLC2A2	G58161NS G93924TT
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)	Solute carrier family 2, facilitated glucose transporter member 10	O95528	GLUT10 SLC2A10	G58161NS
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)	Solute carrier family 2, facilitated glucose transporter member 1	P11166	GLUT1 SLC2A1	G58161NS
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)	Equilibrative nucleoside transporter 3	Q9BZD2	ENT3 SLC29A3
Defective SLC26A4 causes Pendred syndrome (PDS)	Pendrin	O43511	PDS SLC26A4
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)	Chloride anion exchanger	P40879	DRA SLC26A3
Defective SLC26A2 causes chondrodysplasias	Sulfate transporter	P50443	DTD DTDST SLC26A2
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)	Sodium/potassium/calcium exchanger 4	Q8NFF2	NCKX4 SLC24A4
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)	Sodium/potassium/calcium exchanger 1	O60721	KIAA0702 NCKX1 SLC24A1
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)	Organic cation/carnitine transporter 2	O76082	OCTN2 SLC22A5
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)	Solute carrier family 22 member 12	Q96S37	OATL4 SLC22A12 URAT1
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)	Sodium-dependent phosphate transporter 2	Q08357	GLVR2 PIT2 SLC20A2
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)	Excitatory amino acid transporter 3	P43005	EAAC1 EAAT3 HEAAC1 SLC1A1
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)	Vesicular glutamate transporter 3	Q8NDX2	SLC17A8 VGLUT3
Defective SLC17A5 causes Salla disease (SD) and ISSD	Sialin	Q9NRA2	SLC17A5
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)	Basigin Monocarboxylate transporter 1	P35613 P53985	BSG MCT1 SLC16A1
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	Solute carrier family 12 member 6	Q9UHW9	KCC3 SLC12A6
Defective SLC12A3 causes Gitelman syndrome (GS)	Solute carrier family 12 member 3	P55017	NCC SLC12A3 TSC
Defective SLC12A1 causes Bartter syndrome 1 (BS1)	Solute carrier family 12 member 1	Q13621	NKCC2 SLC12A1
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)	Natural resistance-associated macrophage protein 2	P49281	DCT1 DMT1 NRAMP2 SLC11A2
Defective SFTPA2 causes IPF	Pulmonary surfactant-associated protein A2	Q8IWL1	COLEC5 PSAP SFTP1 SFTPA SFTPA2 SFTPA2B
Defective SERPING1 causes hereditary angioedema	Coagulation factor XII Plasma kallikrein Plasma protease C1 inhibitor	P00748 P03952 P05155	C1IN C1NH F12 KLK3 KLKB1 SERPING1

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