Stefan Broer

Reviewed Pathways (72/72)
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
2015-08-04 R-HSA-5619058 Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR) BibTex
2015-08-04 R-HSA-5619068 Defective SLC2A10 causes arterial tortuosity syndrome (ATS) BibTex
2015-08-04 R-HSA-5619071 Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) BibTex
2015-08-04 R-HSA-5619070 Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) BibTex
2015-08-04 R-HSA-5619067 Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) BibTex
2015-08-04 R-HSA-5619066 Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) BibTex
2015-08-04 R-HSA-5619045 Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) BibTex
2015-08-04 R-HSA-5658471 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) BibTex
2015-08-04 R-HSA-5619044 Defective SLC6A19 causes Hartnup disorder (HND) BibTex
2015-08-04 R-HSA-5619047 Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) BibTex
2015-08-04 R-HSA-5619046 Defective SLC26A4 causes Pendred syndrome (PDS) BibTex
2015-08-04 R-HSA-5619041 Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) BibTex
2015-08-04 R-HSA-9036092 Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) BibTex
2015-08-04 R-HSA-5619040 Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) BibTex
2015-08-04 R-HSA-5619043 Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) BibTex
2015-08-04 R-HSA-5658208 Defective SLC5A2 causes renal glucosuria (GLYS1) BibTex
2015-08-04 R-HSA-5619042 Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) BibTex
2015-08-04 R-HSA-5619053 Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) BibTex
2015-08-04 R-HSA-5619052 Defective SLC9A9 causes autism 16 (AUTS16) BibTex
2015-08-04 R-HSA-5619055 Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) BibTex
2015-08-04 R-HSA-5619054 Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) BibTex
2015-08-04 R-HSA-5619049 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) BibTex
2015-08-04 R-HSA-5619048 Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) BibTex
2015-08-04 R-HSA-5619050 Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) BibTex
2015-08-04 R-HSA-5619092 Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) BibTex
2015-08-04 R-HSA-5619095 Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) BibTex
2015-08-04 R-HSA-5619094 Variant SLC6A14 may confer susceptibility towards obesity BibTex
2015-08-04 R-HSA-5619089 Defective SLC6A5 causes hyperekplexia 3 (HKPX3) BibTex
2015-08-04 R-HSA-5619088 Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) BibTex
2015-08-04 R-HSA-5619101 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) BibTex
2015-08-04 R-HSA-5619097 Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) BibTex
2015-08-04 R-HSA-5619096 Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) BibTex
2015-08-04 R-HSA-5619099 Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) BibTex
2015-08-04 R-HSA-5619098 Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) BibTex
2015-08-04 R-HSA-5619077 Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) BibTex
2015-08-04 R-HSA-5619076 Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) BibTex
2015-08-04 R-HSA-5619079 Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria BibTex
2015-08-04 R-HSA-5619078 Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) BibTex
2015-08-04 R-HSA-5619073 Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) BibTex
2015-08-04 R-HSA-5619072 Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) BibTex
2015-08-04 R-HSA-5619085 Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) BibTex
2015-08-04 R-HSA-5660686 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) BibTex
2015-08-04 R-HSA-5619087 Defective SLC12A3 causes Gitelman syndrome (GS) BibTex
2015-08-04 R-HSA-5619081 Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS) BibTex
2015-08-04 R-HSA-5619083 Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) BibTex
2015-08-04 R-HSA-5660724 Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS) BibTex
2015-08-04 R-HSA-5660862 Defective SLC7A7 causes lysinuric protein intolerance (LPI) BibTex
2015-08-04 R-HSA-5619109 Defective SLC6A2 causes orthostatic intolerance (OI) BibTex
2015-08-04 R-HSA-5619108 Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) BibTex
2015-08-04 R-HSA-5619111 Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) BibTex
2015-08-04 R-HSA-5619110 Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) BibTex
2015-08-04 R-HSA-5619104 Defective SLC12A1 causes Bartter syndrome 1 (BS1) BibTex
2015-08-04 R-HSA-5619107 Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) BibTex
2015-08-04 R-HSA-5663020 Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) BibTex
2015-08-04 R-HSA-5656364 Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) BibTex
2015-08-04 R-HSA-5619113 Defective SLC3A1 causes cystinuria (CSNU) BibTex
2015-08-04 R-HSA-5619114 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) BibTex
Reviewed Reactions (66/66)
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
2015-08-04 R-HSA-5661198 Defective SLCO1B3 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte) BibTex
2015-08-04 R-HSA-5632871 Defective SLC2A10 does not transport Glc from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5625210 Defective SLC22A12 does not exchange extracellular urate for cytosolic LACT BibTex
2015-08-04 R-HSA-5624211 Defective SLC16A1 does not cotransport monocarboxylates, H+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5625029 SLC1A1 does not cotransport L-Glu,L-Asp,D-Asp,H+,3Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5625574 Defective SLC22A18 does not exchange extracellular organic cations for cytosolic H+ BibTex
2015-08-04 R-HSA-5651697 Defective SLC34A2 does not cotransport Pi, 3Na+ BibTex
2015-08-04 R-HSA-5658483 Defective SLC5A7 does not cotransport Cho, Cl-, Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5638209 Defective SLC2A9 does not transport Fru, Glc, urate BibTex
2015-08-04 R-HSA-5627870 SLC26A4 does not transport I- from cytosol to extracellular region BibTex
2015-08-04 R-HSA-5653850 Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-9035517 Defective AVP mutants do not bind AVPR2 BibTex
2015-08-04 R-HSA-5651685 Defective SLC34A1 does not cotransport Pi, 3Na+ BibTex
2015-08-04 R-HSA-5632804 SLC2A1 tetramer does not transport Glc from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5658163 Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5623051 Defective RHAG does not transport NH4+ from cytosol to extracellular region (rbc) BibTex
2015-08-04 R-HSA-5625674 Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5661086 Defective SLC9A9 does not exchange Na+ for H+ across the late endosome membrane BibTex
2015-08-04 R-HSA-5626270 Defective SLC24A4 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ BibTex
2015-08-04 R-HSA-5656219 Defective SLC4A4 does not cotransport Na+ with 3HCO3- BibTex
2015-08-04 R-HSA-5655733 Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region BibTex
2015-08-04 R-HSA-5623558 Defective SLC11A2 does not cotransport Fe2+, H+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5656248 Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) BibTex
2015-08-04 R-HSA-5661039 Defective SLC9A6 does not exchange Na+ for H+ across the early endosome membrane BibTex
2015-08-04 R-HSA-5661188 Defective SLCO2A1 does not transport PGT substrates from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5659674 Variant SLC6A14 cotransports SLC6A14 ligands, Cl-, 2Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5660840 Defective SLC6A5 does not cotransport Gly, Cl-, Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5654125 Defective SLC39A4 does not transport Zn2+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5660694 Variant SLC6A20 does not cotransport L-Pro, Na+ from extracellulare region to cytosol BibTex
2015-08-04 R-HSA-5651971 Defective SLC34A3 does not cotransport Pi, 2Na+ BibTex
2015-08-04 R-HSA-5658195 Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5621425 Defective AVP mutants do not bind AVPR1A,B BibTex
2015-08-04 R-HSA-5638222 Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region BibTex
2015-08-04 R-HSA-5625841 Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ BibTex
2015-08-04 R-HSA-5624256 Defective SLC17A8 does not exchange cytosolic L-Glu for synaptic vesicle H+ BibTex
2015-08-04 R-HSA-5653596 Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen BibTex
2015-08-04 R-HSA-5621918 Defective GCK does not phosphorylate Glc to form G6P BibTex
2015-08-04 R-HSA-5652099 Defective SLC35A2 does not exchange UDP-Gal, UDP-GalNAc for UMP BibTex
2015-08-04 R-HSA-5627737 SLC26A3 does not exchange Cl- for HCO3- BibTex
2015-08-04 R-HSA-5623705 Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5660706 Defective SLC6A3 does not cotransport DA, Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5653622 Defective SLC35A3 does not exchange UDP-GlcNAc for UMP BibTex
2015-08-04 R-HSA-5660910 Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane BibTex
2015-08-04 R-HSA-5659764 Defective SLC6A2 does not cotransport NAd, Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5627891 Defective SLC27A4 does not transport LCFAs from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5625123 Defective SLC20A2 does not cotransport Pi, Na+ from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5661184 Defective SLCO1B1 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte) BibTex
2015-08-04 R-HSA-5623588 Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol BibTex
2015-08-04 R-HSA-5661474 Defective NPC does not transport GCK1:GKRP from cytosol to nucleoplasm BibTex
2015-08-04 R-HSA-5656356 Defective SLC5A1 does not cotransport Glc and Na+ BibTex
2015-08-04 R-HSA-5655702 Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu BibTex
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