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Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)
Displaying entries 451 - 475 of 2090 in total
Pathway Name ▲ Protein Name UniProt ID Gene Symbol GlyTouCan ID
Defective Mismatch Repair Associated With MSH2
  • DUC1
  • DUG
  • GTBP
  • MSH2
  • MSH3
  • MSH6
Defective Mismatch Repair Associated With MSH3
  • DUC1
  • DUG
  • MSH2
  • MSH3
Defective Mismatch Repair Associated With MSH6
  • GTBP
  • MSH2
  • MSH6
Defective Mismatch Repair Associated With PMS2
  • COCA2
  • MLH1
  • PMS2
  • PMSL2
Defective NEU1 causes sialidosis
  • CTSA
  • ELNR1
  • GLB1
  • NANH
  • NEU1
  • PPGB
Defective OPLAH causes OPLAHD
  • OPLAH
Defective PAPSS2 causes SEMD-PA
  • ATPSK2
  • PAPSS2
Defective PGM1 causes CDG1t
  • PGM1
Defective PMM2 causes CDG-1a
  • PMM2
Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine
  • NP
  • PNP
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
  • DAG1
  • MGAT1.2
  • POMGNT1
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
  • DAG1
  • POMT1
  • POMT2
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
  • DAG1
  • POMT1
  • POMT2
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
  • RH50
  • RHAG
Defective RIPK1-mediated regulated necrosis
  • CASP8
  • FADD
  • MCH5
  • MORT1
  • RIP
  • RIP1
  • RIPK1
  • TRADD
  • TRAF2
  • TRAP3
Defective SERPING1 causes hereditary angioedema
  • C1IN
  • C1NH
  • F12
  • KLK3
  • KLKB1
  • SERPING1
Defective SFTPA2 causes IPF
  • COLEC5
  • PSAP
  • SFTP1
  • SFTPA
  • SFTPA2
  • SFTPA2B
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
  • DCT1
  • DMT1
  • NRAMP2
  • SLC11A2
Defective SLC12A1 causes Bartter syndrome 1 (BS1)
  • NKCC2
  • SLC12A1
Defective SLC12A3 causes Gitelman syndrome (GS)
  • NCC
  • SLC12A3
  • TSC
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
  • KCC3
  • SLC12A6
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
  • BSG
  • MCT1
  • SLC16A1
Defective SLC17A5 causes Salla disease (SD) and ISSD
  • SLC17A5
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
  • SLC17A8
  • VGLUT3
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
  • EAAC1
  • EAAT3
  • HEAAC1
  • SLC1A1
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Last updated: August 19, 2024