Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Displaying entries 26 - 50 of 2090 in total
Pathway Name Protein Name UniProt ID Gene Symbol ▼ GlyTouCan ID
Defective SLC17A5 causes Salla disease (SD) and ISSD
  • SLC17A5
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 SLC5A2 causes renal glucosuria (GLYS1)
  • SGLT2
  • SLC5A2
Defective pro-SFTPB causes SMDP1 and RDS
  • SFTP3
  • SFTPB
RPIA deficiency: failed conversion of R5P to RU5P
  • RPI
  • RPIA
RPIA deficiency: failed conversion of RU5P to R5P
  • RPI
  • RPIA
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
  • RH50
  • RHAG
Defective translocation of RB1 mutants to the nucleus
  • RB1
TICAM1 deficiency - HSE
  • PRVTIRB
  • TICAM1
  • TLR3
  • TRIF
Toll Like Receptor 3 (TLR3) Cascade
  • PRVTIRB
  • TICAM1
  • TLR3
  • TRIF
PRPP biosynthesis
  • PRPS1
  • PRPS1L1
  • PRPS2
  • PRPS3
  • PRPSL
Integration of energy metabolism
  • PPP2CA
  • PPP2CB
  • PPP2R1A
  • PPP2R1B
  • PPP2R5D
Defective PMM2 causes CDG-1a
  • PMM2
Oleoyl-phe metabolism
  • PM20D1
Response to elevated platelet cytosolic Ca2+
  • PKCA
  • PKCB
  • PKCG
  • PRKACA
  • PRKCA
  • PRKCB
  • PRKCB1
  • PRKCG
Disinhibition of SNARE formation
  • PKCA
  • PKCB
  • PKCG
  • PRKACA
  • PRKCA
  • PRKCB
  • PRKCB1
  • PRKCG
  • STX4
  • STX4A
  • STXBP3
PKA-mediated phosphorylation of CREB
  • PKACA
  • PKX1
  • PRKACA
  • PRKACB
  • PRKACG
  • PRKX
PI and PC transport between ER and Golgi membranes
  • PITPNB
Defective PGM1 causes CDG1t
  • PGM1
Defective SLC26A4 causes Pendred syndrome (PDS)
  • PDS
  • SLC26A4
PDGFR mutants bind TKIs
  • PDGFR2
  • PDGFRA
  • RHEPDGFRA
Sunitinib-resistant PDGFR mutants
  • PDGFR2
  • PDGFRA
  • RHEPDGFRA
Sorafenib-resistant PDGFR mutants
  • PDGFR2
  • PDGFRA
  • RHEPDGFRA
Imatinib-resistant PDGFR mutants
  • PDGFR2
  • PDGFRA
  • RHEPDGFRA

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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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