Reactome: A Curated Pathway Database

Query author contributions in Reactome

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Pathways reviewed by Broer, Stefan (352037)

DB_ID Name
5619037 Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
5619036 Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
5619039 Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
5619035 Defective SLC17A5 causes Salla disease (SD) and ISSD
5619061 Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
5619060 Defective CP causes aceruloplasminemia (ACERULOP)
5619063 Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
5619062 Defective SLC1A3 causes episodic ataxia 6 (EA6)
5619056 Defective HK1 causes hexokinase deficiency (HK deficiency)
5619058 Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
5619068 Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
5619071 Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)
5619070 Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
5619067 Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
5619066 Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)
5619045 Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
5619044 Defective SLC6A19 causes Hartnup disorder (HND)
5619047 Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
5619046 Defective SLC26A4 causes Pendred syndrome (PDS)
5619041 Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
5619040 Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
5619043 Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
5619042 Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
5619053 Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
5619052 Defective SLC9A9 causes autism 16 (AUTS16)
5619055 Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
5619054 Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
5619049 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
5619048 Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
5619050 Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
5619092 Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
5619095 Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)
5619094 Variant SLC6A14 may confer susceptibility towards obesity
5619089 Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
5619088 Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
5619101 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
5619102 SLC transporter disorders
5619097 Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
5619096 Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
5619099 Defective AVP causes neurohypophyseal diabetes insipidus (NDI)
5619098 Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
5619077 Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
5619076 Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
5619079 Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
5619078 Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
5619073 Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
5619072 Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)
5619085 Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
5619087 Defective SLC12A3 causes Gitelman syndrome (GS)
5619081 Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
5619083 Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
5619109 Defective SLC6A2 causes orthostatic intolerance (OI)
5619108 Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
5619111 Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
5619110 Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
5619104 Defective SLC12A1 causes Bartter syndrome 1 (BS1)
5619107 Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
5619113 Defective SLC3A1 causes cystinuria (CSNU)
5619114 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
5655799 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
5656364 Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
3560792 Defective SLC26A2 causes chondrodysplasias
5658208 Defective SLC5A2 causes renal glucosuria (GLYS1)
5658471 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
5659735 Defective SLC6A19 causes Hartnup disorder (HND)
5659729 Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
5660686 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
5660724 Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
5660883 Defective SLC7A9 causes cystinuria (CSNU)
5660862 Defective SLC7A7 causes lysinuric protein intolerance (LPI)
5661182 Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
5663020 Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)

Details on Person Broer, Stefan

Class:IdPerson:352037
_displayNameBroer, Stefan
_timestamp2017-08-22 20:39:56
created[InstanceEdit:352012] D'Eustachio, P, 2008-05-29 20:27:07
firstnameStefan
initialS
modified[InstanceEdit:3211405] Wu, G, 2013-03-06
surnameBroer
(author)[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
[LiteratureReference:352038] Functional characterization of the Betaine/gamma-aminobutyric acid transporter BGT-1 expressed in Xenopus oocytes
[LiteratureReference:352222] Amino acid transport across mammalian intestinal and renal epithelia
[LiteratureReference:352381] Neutral amino acid transporter ASCT2 displays substrate-induced Na+ exchange and a substrate-gated anion conductance
[LiteratureReference:375453] Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
[LiteratureReference:379420] The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine
[LiteratureReference:5625009] Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria
[LiteratureReference:5653856] Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters
[LiteratureReference:5659753] The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
[LiteratureReference:6789775] The solute carrier 6 family of transporters
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