Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Displaying entries 1 - 25 of 2090 in total
Pathway Name Protein Name UniProt ID ▼ Gene Symbol GlyTouCan ID
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
  • NBC
  • NBC1
  • NBCE1
  • SLC4A4
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
  • LST1
  • OATP1B1
  • OATP2
  • OATPC
  • SLC21A6
  • SLCO1B1
Nucleotide catabolism
  • MOP5
  • SAMHD1
Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
  • GLYT2
  • NET1
  • SLC6A5
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
  • SLC35A3
Synthesis of IPs in the ER lumen
  • MINPP1
  • MIPP
Variant SLC6A14 may confer susceptibility towards obesity
  • SLC6A14
alectinib-resistant ALK mutants
  • ALK
NVP-TAE684-resistant ALK mutants
  • ALK
lorlatinib-resistant ALK mutants
  • ALK
crizotinib-resistant ALK mutants
  • ALK
ASP-3026-resistant ALK mutants
  • ALK
ceritinib-resistant ALK mutants
  • ALK
brigatinib-resistant ALK mutants
  • ALK
Defective MAN1B1 causes MRT15
  • MAN1B1
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
  • KCC3
  • SLC12A6
Defective regulation of TLR7 by endogenous ligand
  • TLR7
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
  • GLUT9
  • SLC2A9
Defective SLC17A5 causes Salla disease (SD) and ISSD
  • SLC17A5
Toll Like Receptor 7/8 (TLR7/8) Cascade
  • TLR7
  • TLR8
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
  • LST2
  • OATP1B3
  • OATP8
  • SLC21A8
  • SLCO1B3
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 ABCB6 causes MCOPCB7
  • ABCB6
  • MTABC3
  • PRP
  • UMAT
Tandem pore domain halothane-inhibited K+ channel (THIK)
  • KCNK13

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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