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Stefan Broer
Expand All
Reviewed Pathways (15/72)
Date
Identifier
Pathway
Reference
2015-08-04
R-HSA-3560792
Defective SLC26A2 causes chondrodysplasias
BibTex
2015-08-04
R-HSA-5619102
SLC transporter disorders
BibTex
2015-08-04
R-HSA-5659735
Defective SLC6A19 causes Hartnup disorder (HND)
BibTex
2015-08-04
R-HSA-5660883
Defective SLC7A9 causes cystinuria (CSNU)
BibTex
2015-08-04
R-HSA-5659729
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
BibTex
2015-08-04
R-HSA-5619037
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
BibTex
2015-08-04
R-HSA-5619036
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
BibTex
2015-08-04
R-HSA-5619039
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
BibTex
2015-08-04
R-HSA-5619035
Defective SLC17A5 causes Salla disease (SD) and ISSD
BibTex
2015-08-04
R-HSA-5619061
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
BibTex
2015-08-04
R-HSA-5619060
Defective CP causes aceruloplasminemia (ACERULOP)
BibTex
2015-08-04
R-HSA-5655799
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
BibTex
2015-08-04
R-HSA-5619063
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
BibTex
2015-08-04
R-HSA-5619062
Defective SLC1A3 causes episodic ataxia 6 (EA6)
BibTex
2015-08-04
R-HSA-5619056
Defective HK1 causes hexokinase deficiency (HK deficiency)
BibTex
Show all reviewed pathways...
Reviewed Reactions (15/66)
Date
Identifier
Reaction
Reference
2015-08-04
R-HSA-5627802
SLC26A4 transports I- from cytosol to extracellular region
BibTex
2015-08-04
R-HSA-3560789
Defective SLC26A2 does not cotransport extracellular SO4(2-), H+ to cytosol
BibTex
2015-08-04
R-HSA-5659734
Defective SLC6A19 does not cotransport neutral amino acids, Na+ from extracellular region to cytosol
BibTex
2015-08-04
R-HSA-5660890
Defective SLC7A9 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu
BibTex
2015-08-04
R-HSA-5659755
Defective SLC6A18 does not transport Gly from extracellular region to cytosol
BibTex
2015-08-04
R-HSA-5651942
Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP
BibTex
2015-08-04
R-HSA-5626356
Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+
BibTex
2015-08-04
R-HSA-5623806
Defective SLC12A6 does not cotransport K+, Cl- from cytosol to extracellular region
BibTex
2015-08-04
R-HSA-5624239
Defective SLC17A5 does not cotransport Neu5Ac, H+ from lysosomal lumen to cytosol
BibTex
2015-08-04
R-HSA-5649742
Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen
BibTex
2015-08-04
R-HSA-5621402
Defective CP does not oxidise Fe2+ to Fe3+
BibTex
2015-08-04
R-HSA-5655760
Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol
BibTex
2015-08-04
R-HSA-5628807
Defective SLC29A3 does not transport nucleosides from lysosomal lumen to cytosol
BibTex
2015-08-04
R-HSA-5625015
Defective SLC1A3 does not cotransport L-Glu,L-Asp,D-Asp,H+,3Na+ from extracellular region to cytosol
BibTex
2015-08-04
R-HSA-5621888
Defective HK1 does not phosphorylate Glc to form G6P
BibTex
Show all reviewed reactions...
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