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 VWF binding to collagen type I
  • F8VWF
  • VWF
PKA-mediated phosphorylation of CREB
  • PKACA
  • PKX1
  • PRKACA
  • PRKACB
  • PRKACG
  • PRKX
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
  • SLC39A4
  • ZIP4
ZBP1(DAI) mediated induction of type I IFNs
  • C20orf183
  • DLM1
  • ZBP1
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
  • SLC17A8
  • VGLUT3
Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)
  • ADHR
  • ARVP
  • AVP
  • AVPR2
  • DIR
  • DIR3
  • V2R
  • VP
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
  • ARVP
  • AVP
  • AVPR1
  • AVPR1A
  • AVPR1B
  • AVPR3
  • VP
  • VPR3
Ion channel transport
  • ATP6A1
  • ATP6AP1
  • ATP6B1
  • ATP6B2
  • ATP6C
  • ATP6D
  • ATP6E
  • ATP6E1
  • ATP6E2
  • ATP6EL2
  • ATP6F
  • ATP6G
  • ATP6G1
  • ATP6G2
  • ATP6G3
  • ATP6H
  • ATP6IP1
  • ATP6J
  • ATP6L
  • ATP6M
  • ATP6N1
  • ATP6N1A
  • ATP6N1B
  • ATP6N1C
  • ATP6N2
  • ATP6S1
  • ATP6S14
  • ATP6V0A1
  • ATP6V0A2
  • ATP6V0A3
  • ATP6V0A4
  • ATP6V0B
  • ATP6V0C
  • ATP6V0D1
  • ATP6V0D2
  • ATP6V0E
  • ATP6V0E1
  • ATP6V0E2
  • ATP6V0E2L
  • ATP6V1A
  • ATP6V1A1
  • ATP6V1B1
  • ATP6V1B2
  • ATP6V1C1
  • ATP6V1C2
  • ATP6V1D
  • ATP6V1E1
  • ATP6V1E2
  • ATP6V1EL2
  • ATP6V1F
  • ATP6V1G1
  • ATP6V1G2
  • ATP6V1G3
  • ATP6V1H
  • ATPL
  • C7orf32
  • NG38
  • TCIRG1
  • VATB
  • VATC
  • VATD
  • VATF
  • VATPS1
  • VPATPD
  • VPP1
  • VPP2
  • VPP3
  • XAP3
Defective UGT1A4 causes hyperbilirubinemia
  • GNT1
  • UGT1
  • UGT1A4
Defective UGT1A1 causes hyperbilirubinemia
  • GNT1
  • UGT1
  • UGT1A1
Defective GALE causes EDG
  • GALE
Defective DPAGT1 causes CDG-1j, CMSTA2
  • DPAGT1
  • DPAGT2
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
  • SLC35A3
Defective ALG14 causes ALG14-CMS
  • ALG13
  • ALG14
  • CXorf45
  • GLT28D1
PI Metabolism
  • TIPE3
  • TNFAIP8
  • TNFAIP8L1
  • TNFAIP8L2
  • TNFAIP8L3
Beta oxidation of palmitoyl-CoA to myristoyl-CoA
  • ACADVL
  • HADH
  • HADHA
  • HADHB
  • VLCAD
GLI proteins bind promoters of Hh responsive genes to promote transcription
  • GLI
  • GLI1
  • GLI2
  • GLI3
  • THP
TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P
  • TAL
  • TALDO
  • TALDO1
  • TALDOR
TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P
  • TAL
  • TALDO
  • TALDO1
  • TALDOR
Insulin effects increased synthesis of Xylulose-5-Phosphate
  • TAL
  • TALDO
  • TALDO1
  • TALDOR
  • TKT
Defective regulation of TLR7 by endogenous ligand
  • TLR7
Toll Like Receptor 7/8 (TLR7/8) Cascade
  • TLR7
  • TLR8
TLR3 deficiency - HSE
  • TLR3
Toll Like Receptor 10 (TLR10) Cascade
  • TLR10
Defective TBXAS1 causes GHDD
  • CYP5
  • CYP5A1
  • TBXAS1
  • TXAS

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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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