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Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)
Displaying entries 1576 - 1600 of 2090 in total
Pathway Name ▼ Protein Name UniProt ID Gene Symbol GlyTouCan ID
Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
  • GLYT2
  • NET1
  • SLC6A5
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
  • DAT1
  • SLC6A3
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
  • DAT1
  • SLC6A3
Defective SLC6A2 causes orthostatic intolerance (OI)
  • NAT1
  • NET1
  • SLC6A2
  • SLC6A5
Defective SLC6A19 causes Hartnup disorder (HND)
  • B0AT1
  • SLC6A19
Defective SLC6A19 causes Hartnup disorder (HND)
  • B0AT1
  • SLC6A19
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
  • B0AT3
  • SLC6A18
  • XTRP2
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
  • B0AT3
  • SLC6A18
  • XTRP2
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
  • CHT1
  • SLC5A7
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
  • CHT1
  • SLC5A7
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
  • NIS
  • SLC5A5
Defective SLC5A2 causes renal glucosuria (GLYS1)
  • SGLT2
  • SLC5A2
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
  • NAGT
  • SGLT1
  • SLC5A1
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
  • NBC
  • NBC1
  • NBCE1
  • SLC4A4
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
  • AE1
  • DI
  • EPB3
  • SLC4A1
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
  • CP
  • FPN
  • FPN1
  • IREG1
  • SLC11A3
  • SLC40A1
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
  • FPN
  • FPN1
  • HEPH
  • IREG1
  • KIAA0698
  • SLC11A3
  • SLC40A1
Defective SLC3A1 causes cystinuria (CSNU)
  • BAT1
  • NBAT
  • SLC3A1
  • SLC7A9
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
  • SLC39A4
  • ZIP4
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
  • SLC35A3
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
  • SLC35A1
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
  • SLC35A1
Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
  • NPT2C
  • NPTIIC
  • SLC34A3
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
  • SLC34A2
Defective SLC34A2 causes PALM
  • SLC34A2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024