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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 476 - 500 of 2090 in total
Pathway Name ▲ Protein Name UniProt ID Gene Symbol GlyTouCan ID
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
  • GLVR2
  • PIT2
  • SLC20A2
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)
  • OATL4
  • SLC22A12
  • URAT1
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
  • OCTN2
  • SLC22A5
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
  • KIAA0702
  • NCKX1
  • SLC24A1
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
  • NCKX4
  • SLC24A4
Defective SLC26A2 causes chondrodysplasias
  • DTD
  • DTDST
  • SLC26A2
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
  • DRA
  • SLC26A3
Defective SLC26A4 causes Pendred syndrome (PDS)
  • PDS
  • SLC26A4
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
  • ENT3
  • SLC29A3
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
  • GLUT1
  • SLC2A1
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
  • GLUT10
  • SLC2A10
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
  • GLUT2
  • SLC2A2
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
  • GLUT9
  • SLC2A9
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
  • ACATN
  • AT1
  • SLC33A1
Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
  • NPT2
  • SLC17A2
  • SLC34A1
Defective SLC34A2 causes PALM
  • SLC34A2
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
  • SLC34A2
Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
  • NPT2C
  • NPTIIC
  • SLC34A3
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
  • SLC35A1
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
  • SLC35A1
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
  • SLC35A3
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
  • SLC39A4
  • ZIP4
Defective SLC3A1 causes cystinuria (CSNU)
  • BAT1
  • NBAT
  • SLC3A1
  • SLC7A9
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
  • FPN
  • FPN1
  • HEPH
  • IREG1
  • KIAA0698
  • SLC11A3
  • SLC40A1
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
  • CP
  • FPN
  • FPN1
  • IREG1
  • SLC11A3
  • SLC40A1
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Last updated: August 19, 2024