Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Displaying entries 1601 - 1625 of 2090 in total
Pathway Name ▼ Protein Name UniProt ID Gene Symbol GlyTouCan ID
Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
  • NPT2
  • SLC17A2
  • SLC34A1
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
  • ACATN
  • AT1
  • SLC33A1
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
  • GLUT9
  • SLC2A9
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
  • GLUT2
  • SLC2A2
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
  • GLUT10
  • SLC2A10
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
  • GLUT1
  • SLC2A1
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
  • ENT3
  • SLC29A3
Defective SLC26A4 causes Pendred syndrome (PDS)
  • PDS
  • SLC26A4
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
  • DRA
  • SLC26A3
Defective SLC26A2 causes chondrodysplasias
  • DTD
  • DTDST
  • SLC26A2
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
  • NCKX4
  • SLC24A4
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
  • KIAA0702
  • NCKX1
  • SLC24A1
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
  • OCTN2
  • SLC22A5
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)
  • OATL4
  • SLC22A12
  • URAT1
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
  • GLVR2
  • PIT2
  • SLC20A2
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
  • EAAC1
  • EAAT3
  • HEAAC1
  • SLC1A1
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
  • SLC17A8
  • VGLUT3
Defective SLC17A5 causes Salla disease (SD) and ISSD
  • SLC17A5
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
  • BSG
  • MCT1
  • SLC16A1
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
  • KCC3
  • SLC12A6
Defective SLC12A3 causes Gitelman syndrome (GS)
  • NCC
  • SLC12A3
  • TSC
Defective SLC12A1 causes Bartter syndrome 1 (BS1)
  • NKCC2
  • SLC12A1
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
  • DCT1
  • DMT1
  • NRAMP2
  • SLC11A2
Defective SFTPA2 causes IPF
  • COLEC5
  • PSAP
  • SFTP1
  • SFTPA
  • SFTPA2
  • SFTPA2B
Defective SERPING1 causes hereditary angioedema
  • C1IN
  • C1NH
  • F12
  • KLK3
  • KLKB1
  • SERPING1

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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