Defective BTD causes biotidinase deficiency

Adrenaline signalling through Alpha-2 adrenergic receptor

Defective GNE causes sialuria, NK and IBM2

Proton-coupled neutral amino acid transporters

Sodium-coupled sulphate, di- and tri-carboxylate transporters

Zinc efflux and compartmentalization by the SLC30 family

Zinc influx into cells by the SLC39 gene family

Defective CYP11B2 causes CMO-1 deficiency

Defective SLC17A5 causes Salla disease (SD) and ISSD

Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)

Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)

Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)

Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)

Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)

Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)

Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)

Defective SLC6A19 causes Hartnup disorder (HND)

Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)

Defective SLC26A4 causes Pendred syndrome (PDS)

Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)

Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)

Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4),  distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)

Defective SLC9A9 causes autism 16 (AUTS16)

Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)

Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)

Defective HK1 causes hexokinase deficiency (HK deficiency)

Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)

Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

Defective SLC1A3 causes episodic ataxia 6 (EA6)

Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)

Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)