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 |