Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)

Defective SLC2A10 causes arterial tortuosity syndrome (ATS)

Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)

Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)

Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)

Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)

Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)

Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria

Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)

Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)

Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)

Defective SLC12A3 causes Gitelman syndrome (GS)

Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)

Defective SLC6A5 causes hyperekplexia 3 (HKPX3)

Defective SLC9A6 causes  X-linked, syndromic mental retardation,, Christianson type (MRXSCH)

Variant SLC6A14 may confer susceptibility towards obesity

Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)

Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)

Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)

Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)

Defective SLC12A1 causes Bartter syndrome 1 (BS1)

Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)

Defective SLC6A2 causes orthostatic intolerance (OI)

Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)

Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)

Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)

Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)