4F2HC, SLC3A2

Lysinuria

ABC-1, ABC1

Tangiers disease

ABC7, hABC7

X-linked sideroblastic anemia

ABCR

Stargardt disease, Fundus flavimaculatus

AE1, SLC4A1

elliptocytosis, ovalocytosis, hemolytic anemia, spherocytosis, renal tubular acidosis

AE2, SLC4A2

congenital chloroidorrhea

AE3, SLC4A3

congenital chloroidorrhea

ALDR

Adrenoleukodystrophy

ANK

ankylosis (calcification); arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction

Aralar-like, SLC25A13

adult-onset type II citrullinemia

ATBo, SLC1A5, hATBo, ASCT2, AAAT

Neurodegeneration

BCMP1, UCP4, SLC25A14

HHH

CFTR

Cystic fibrosis

CTR-1, SLC31A1

Menkes/Wilsons disease

CTR-2, SLC31A2

Menkes/Wilsons disease, X-linked hypophosphatemia

DTD, SLC26A2

chondrodysplasias/ diadtrophic dysplasia

EAAT1, SLC1A3, GLAST1

Neurodegeneration, Amyotrophic lateral sclerosis

EAAT2, SLC1A2, GLT-1

Neurodegeneration, Dicarboxylic aminoaciduria

EAAT3, SLC1A1, EAAC1

Neurodegeneration

EAAT4, SLC1A6

Neurodegeneration

EAAT5, SLC1A7

Neurodegeneration

FIC1

Progressive familial intrahepatic cholestasis

FOLT, SLC19A1, RFC1

Folate malabsorption/megaloblastic anemia

GLUT1, SLC2A1

low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus, defect in glucose transport across the blood-brain barrier

GLUT2, SLC2A2

low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus (NIDDM)

GLUT3, SLC2A3

low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus (NIDDM)

GLUT4, SLC2A4

low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus (NIDDM)

GLUT5, SLC2A5

Isolated fructose malabsorption

HET

anemia, genetic hemochromatosis

HTT, SLC6A4

anxiety-related traits

LAT-2, SLC7A6

Lysinuric protein intolerance

LAT-3, SLC7A7

lysinuric protein intolerance

MDR1

human cancers

MDR2, MDR3

Familia intrahepatic cholestasis

MRP1

human cancers

NBC

Down's syndrome

NBC1, SLC4A4

renal tubular acidosis

NBC3, SLC4A7

congenital hypothyroidism

NCCT, SLC12A3, TSC

Gitelman syndrome

NHE2, SLC9A2

Microvillus inclusion disease

NHE3, SLC9A3/3P

Microvillus inclusion disease

NIS, SLC5A5

congenital hypothyroidism

NKCC1, SLC12A2

gitelman's syndrome

NKCC2, SLC12A1

Bartter's syndrome

NORTR

DiGeorge syndrome, velocardiofacial syndrome

NRAMP2, DCT1, SLC11A2,

attention-deficit disorder

NTCP2, ISBT, SLC10A2

primary bile acid malabsorption (PBAM)

OCTN2, SLC22A5

systemic carnitine deficiency (progressive cardiomyopathy, skeletal myopathy, hypoglycaemia, hyperammonaemia, sudden infant death syndrome)

ORNT1, SLC25A15

HHH

PMP34, SLC25A17

Graves' disease

rBAT, SLC3A1, D2

cystinuria

SATT, SLC1A4, ASCT1

Neurodegeneration

SBC2

hypocitraturia

SERT

various mental disorders

SGLT1, SLC5A1

renal glucosuria / glucose-galactose malabsorption

SGLT2, SLC5A2

renal glucosuria

SMVT, SLC5A6

anxiety-related traits, depression

TAP1

juvenile onset psriasis

y+L

Type I ystinuria