Symbol Location Mendelian disease OMIM
ABCA1 09q31.1 Tangier Disease 205400
HDL deficiency, type 2 604091
ABCA2 09q34.3
ABCA3 16p13.3 Neonatal respiratory failure 610921
ABCA4 01p21.3 Stargardt Disease 248200
Cone-rod dystrophy 3 604116
Retinitis pigmentosa 19 601718
ABCA5 17q24.3 Hypertrichosis 135400
ABCA6 17q24.3
ABCA7 19p13.3
ABCA8 17q24.3
ABCA9 17q24.3
ABCA10 17q24.3
ABCA12 02q34 Ichthyosis, autosomal recessive 242500, 601277
ABCA13 07p12.3
ABCB1 07q21.12
ABCB2 06p21 Bare lymphocyte syndrome 604571
ABCB3 06p21 Bare lymphocyte syndrome 604571
ABCB4 07q21.12 Cholestasis, intrahepatic 171060, 171060
ABCB5 07p21.1
ABCB6 02q35 Dyschromatosis universalis 605452
Microphthalmia, isolated, with coloboma 614497
Lan Blood group 605452
ABCB7 Xq21-22 Anemia, sideroblastic, with ataxia 301310
ABCB8 07q36.1
ABCB9 12q24.31
ABCB10 01q42.13
ABCB11 02q24.3 Hepatic cholestasis 605479, 601847
ABCC1 16p13.12
ABCC2 10q24.2 Dubin-Johnson syndrome 237500
ABCC3 17q21.33
ABCC4 13q32.1
ABCC5 03q27.1
ABCC6 16p13.12 Pseudoxanthoma elasticum 264800
Arterial calcification in infancy 614473
ABCC7 07q31.31 Cystic fibrosis 219700
CBAVD 277180
ABCC8 11p15.1 Diabetes mellitus, permanent neonatal 606176, 610374
Hyperinsulinemic hypoglycemia, 256450, 240800
ABCC9 12p12.1 Hypertrichotic osteochondrodysplasia 239850
Cardiomyopathy, dilated, 10 608569
ABCC10 06p21.1
ABCC11 16q12.1 Earwax, (wet/dry), colostrum secretion, odor 117800
ABCC12 16q12.1
ABCD1 Xq28 Adrenoleukodystrophy 300100
ABCD2 12q11
ABCD3 01p22.1 Bile acid synthesis defect, congenital, 5 616278
ABCD4 14q24.3 Methylmalonic aciduria and homocystinuria, cblJ type 603214
ABCE1 04q31.31
ABCF1 06p21.1
ABCF2 07q36.1
ABCF3 03q27.1
ABCG1 21q22.3
ABCG2 04q22 Junior blood group system, Gout 614490
ABCG4 11q23
ABCG5 02p21 Sitosterolemia 210250
ABCG8 02p21 Sitosterolemia 210250