Reactome | BioModels Database:BIOMD0000000054

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BioModels Database:BIOMD0000000054 Show undefined attributes

created	[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
databaseName	BioModels Database
dbId	12819515
displayName	BioModels Database:BIOMD0000000054
identifier	BIOMD0000000054
referenceDatabase	[ReferenceDatabase:12819428] BioModels Database
schemaClass	DatabaseIdentifier
url	https://www.ebi.ac.uk/biomodels/BIOMD0000000054

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(crossReference)

[Pathway:R-HSA-5619111] Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
[Pathway:R-HSA-5619053] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
[Pathway:R-HSA-5619077] Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
[Pathway:R-HSA-5619036] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
[Pathway:R-HSA-5658208] Defective SLC5A2 causes renal glucosuria (GLYS1)
[Pathway:R-HSA-5619081] Defective neurotransmitter clearance by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
[Pathway:R-HSA-9730628] Sensory perception of salty taste
[Pathway:R-HSA-5656364] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
[Pathway:R-HSA-5660686] Variant SLC6A20 affecting amino acid transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
[Pathway:R-HSA-5619104] Defective SLC12A1 causes Bartter syndrome 1 (BS1)
[Pathway:R-HSA-5619087] Defective SLC12A3 causes Gitelman syndrome (GS)
[Pathway:R-HSA-429593] Inositol transporters
[Pathway:R-HSA-5619114] Defective SLC5A7 in the neurotransmitter release cycle causes distal hereditary motor neuronopathy 7A (HMN7A)
[Pathway:R-HSA-5619089] Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
[Pathway:R-HSA-5619097] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
[Pathway:R-HSA-5619096] Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
[Pathway:R-HSA-425381] Bicarbonate transporters
[Pathway:R-HSA-5660724] Defective transport of neurotransmitters by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
[Pathway:R-HSA-5619101] Variant SLC6A20 affecting neurotransmitter transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
[Pathway:R-HSA-427589] Type II Na+/Pi cotransporters
[Pathway:R-HSA-425986] Sodium/Proton exchangers
[Pathway:R-HSA-5619054] Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
[Pathway:R-HSA-5660862] Defective amino acid transport by SLC7A7 causes lysinuric protein intolerance (LPI)
[Pathway:R-HSA-425561] Sodium/Calcium exchangers
[Pathway:R-HSA-9958517] SLC-mediated bile acid transport
[Pathway:R-HSA-5619109] Defective SLC6A2 causes orthostatic intolerance (OI)
[Pathway:R-HSA-5619092] Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
[Pathway:R-HSA-5687583] Defective SLC34A2 causes PALM
[Pathway:R-HSA-427652] Sodium-coupled phosphate cotransporters
[Pathway:R-HSA-5619055] Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
[Pathway:R-HSA-5658471] Defective transport by SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
[Pathway:R-HSA-426117] Cation-coupled Chloride cotransporters
[Pathway:R-HSA-5619052] Defective SLC9A9 causes autism 16 (AUTS16)
[Pathway:R-HSA-433137] Sodium-coupled sulphate, di- and tri-carboxylate transporters
[Pathway:R-HSA-5619045] Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
[Pathway:R-HSA-5619040] Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)

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