Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Displaying entries 2051 - 2075 of 2090 in total
Pathway Name Protein Name UniProt ID Gene Symbol ▲ GlyTouCan ID
Oleoyl-phe metabolism
  • PM20D1
Defective PMM2 causes CDG-1a
  • PMM2
Integration of energy metabolism
  • PPP2CA
  • PPP2CB
  • PPP2R1A
  • PPP2R1B
  • PPP2R5D
PRPP biosynthesis
  • PRPS1
  • PRPS1L1
  • PRPS2
  • PRPS3
  • PRPSL
TICAM1 deficiency - HSE
  • PRVTIRB
  • TICAM1
  • TLR3
  • TRIF
Toll Like Receptor 3 (TLR3) Cascade
  • PRVTIRB
  • TICAM1
  • TLR3
  • TRIF
Defective translocation of RB1 mutants to the nucleus
  • RB1
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
  • RH50
  • RHAG
RPIA deficiency: failed conversion of R5P to RU5P
  • RPI
  • RPIA
RPIA deficiency: failed conversion of RU5P to R5P
  • RPI
  • RPIA
Defective pro-SFTPB causes SMDP1 and RDS
  • SFTP3
  • SFTPB
Defective SLC5A2 causes renal glucosuria (GLYS1)
  • SGLT2
  • SLC5A2
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
  • SIT1
  • SLC6A20
  • XT3
  • XTRP3
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
  • SIT1
  • SLC6A20
  • XT3
  • XTRP3
Defective SLC17A5 causes Salla disease (SD) and ISSD
  • SLC17A5
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
  • SLC17A8
  • VGLUT3
Zinc efflux and compartmentalization by the SLC30 family
  • SLC30A1
  • SLC30A2
  • SLC30A3
  • SLC30A5
  • SLC30A8
  • ZNT1
  • ZNT2
  • ZNT3
  • ZNT5
  • ZNT8
  • ZNTL1
  • ZTL1
Defective SLC34A2 causes PALM
  • SLC34A2
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
  • SLC34A2
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
Variant SLC6A14 may confer susceptibility towards obesity
  • SLC6A14
Toxicity of botulinum toxin type C (botC)
  • SNAP
  • SNAP25
  • STX1
  • STX1A
  • STX1B
  • STX1B1
  • STX1B2

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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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