Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Displaying entries 76 - 100 of 2090 in total
Pathway Name Protein Name UniProt ID Gene Symbol ▼ GlyTouCan ID
Defective SLC9A9 causes autism 16 (AUTS16)
  • NHE9
  • SLC9A9
NFG and proNGF binds to p75NTR
  • NGF
  • NGFB
  • NGFR
  • SORCS3
  • TNFRSF16
Ceramide signalling
  • NGF
  • NGFB
  • NGFR
  • SMPD2
  • TNFRSF16
NEIL3-mediated resolution of ICLs
  • NEIL3
Defective Base Excision Repair Associated with NEIL3
  • NEIL3
Peptide hormone biosynthesis
  • NEC1
  • PCSK1
  • POMC
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
  • NCKX4
  • SLC24A4
Defective SLC12A3 causes Gitelman syndrome (GS)
  • NCC
  • SLC12A3
  • TSC
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
  • NBC
  • NBC1
  • NBCE1
  • SLC4A4
Defective SLC6A2 causes orthostatic intolerance (OI)
  • NAT1
  • NET1
  • SLC6A2
  • SLC6A5
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
  • NANOG
  • OCT3
  • OCT4
  • OTF3
  • POU5F1
  • SOX2
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
  • NAGT
  • SGLT1
  • SLC5A1
MPS IIIB - Sanfilippo syndrome B
  • NAGLU
  • UFHSD1
Sodium-coupled sulphate, di- and tri-carboxylate transporters
  • NACT
  • NADC1
  • NADC3
  • NAS1
  • NASI1
  • SDCT1
  • SDCT2
  • SLC13A1
  • SLC13A2
  • SLC13A3
  • SLC13A4
  • SLC13A5
  • SUT1
MyD88 deficiency (TLR5)
  • MYD88
  • TIL3
  • TLR5
  • flaF
  • fliC
  • hag
Defective MTR causes HMAG
  • MTR
  • MTRR
Defective MTRR causes HMAE
  • MTR
  • MTRR
TRKA activation by NGF
  • MTC
  • NGF
  • NGFB
  • NTRK1
  • TRK
  • TRKA
PLC-gamma1 signalling
  • MTC
  • NGF
  • NGFB
  • NTRK1
  • PLC1
  • PLCG1
  • TRK
  • TRKA
Defective MPI causes CDG-1b
  • MPI
  • PMI1
Defective MPDU1 causes CDG-1f
  • MPDU1
Opioid Signalling
  • MOR1
  • OPRM1
  • PDYN
  • POMC
Nucleotide catabolism
  • MOP5
  • SAMHD1
PTEN Loss of Function in Cancer
  • MMAC1
  • PTEN
  • TEP1
Defective MMAB causes MMA, cblB type
  • MMAB

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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