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| DB_ID | Name |
|---|
| 5619035 | Defective SLC17A5 causes Salla disease (SD) and ISSD |
| 5619043 | Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) |
| 5619048 | Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) |
| 5619049 | Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) |
| 5619050 | Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) |
| 5619060 | Defective CP causes aceruloplasminemia (ACERULOP) |
| 5619061 | Defective SLC33A1 causes spastic paraplegia 42 (SPG42) |
| 5619072 | Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) |
| 5619077 | Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) |
| 5619078 | Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) |
| 5619083 | Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) |
| 5619108 | Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) |
| 5619068 | Defective SLC2A10 causes arterial tortuosity syndrome (ATS) |
| 5619047 | Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) |
| 5656364 | Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) |
| 5658208 | Defective SLC5A2 causes renal glucosuria (GLYS1) |
| 5619098 | Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) |
| 5619056 | Defective HK1 causes hexokinase deficiency (HK deficiency) |
| 5619073 | Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) |
| 5619107 | Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) |
| 5619063 | Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) |
| 5619099 | Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) |
| 9036092 | Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) |
| 5619110 | Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) |
| 5619058 | Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR) |
| 5655799 | Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) |
| 3560792 | Defective SLC26A2 causes chondrodysplasias |
| 5619042 | Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) |
| 5619109 | Defective SLC6A2 causes orthostatic intolerance (OI) |
| 5619089 | Defective SLC6A5 causes hyperekplexia 3 (HKPX3) |
| 5619055 | Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) |
| 5619036 | Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) |
| 5619092 | Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) |
| 5619052 | Defective SLC9A9 causes autism 16 (AUTS16) |
| 5619066 | Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) |
| 5619053 | Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) |
| 5619071 | Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) |
| 5619070 | Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) |
| 5619088 | Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) |
| 5619096 | Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) |
| 5619054 | Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) |
| 5619104 | Defective SLC12A1 causes Bartter syndrome 1 (BS1) |
| 5619087 | Defective SLC12A3 causes Gitelman syndrome (GS) |
| 5619039 | Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) |
| 5619111 | Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) |
| 5619040 | Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) |
| 5619045 | Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) |
| 5619097 | Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) |
| 5619076 | Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) |
| 5619041 | Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) |
| 5619067 | Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) |
| 5619062 | Defective SLC1A3 causes episodic ataxia 6 (EA6) |
| 5619113 | Defective SLC3A1 causes cystinuria (CSNU) |
| 5619085 | Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) |
| 5619046 | Defective SLC26A4 causes Pendred syndrome (PDS) |
| 5619079 | Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria |
| 5659729 | Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria |
| 5619094 | Variant SLC6A14 may confer susceptibility towards obesity |
| 5619102 | SLC transporter disorders |
| 5663020 | Defective SLC35A1 in sialic acid metabolism causes congenital disorder of glycosylation 2F (CDG2F) |
| 5660862 | Defective amino acid transport by SLC7A7 causes lysinuric protein intolerance (LPI) |
| 5660883 | Defective amino acid transport by SLC7A9 causes cystinuria (CSNU) |
| 5619081 | Defective neurotransmitter clearance by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS) |
| 5619037 | Defective transport by SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) |
| 5659735 | Defective transport of amino acids by SLC6A19 causes Hartnup disorder (HND) |
| 5660724 | Defective transport of neurotransmitters by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS) |
| 5660686 | Variant SLC6A20 affecting amino acid transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) |
| 5619101 | Variant SLC6A20 affecting neurotransmitter transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) |
| 5619114 | Defective SLC5A7 in the neurotransmitter release cycle causes distal hereditary motor neuronopathy 7A (HMN7A) |
| 5658471 | Defective transport by SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) |
| 5619044 | Defective transport of neurotransmitters by SLC6A19 causes Hartnup disorder (HND) |
| 5619095 | Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) |
