Annotation Detail for ABCA4
Basic Information
Top
| Gene Symbol: | ABCA4 ( ABC10,ABCR,ARMD2,CORD3,DKFZp781N1972,FFM,FLJ17534,RMP,RP19,STGD,STGD1 ) |
|---|
| Gene Full Name: | ATP-binding cassette, sub-family A (ABC1), member 4 |
|---|
| Band: | 1p22.1 |
|---|
| Quick Links | Entrez ID:24; OMIM: 601691; Uniprot ID:ABCA4_HUMAN; ENSEMBL ID: ENSG00000198691; HGNC ID: 34 |
|---|
| Relate to Another Database: |
SFARIGene;
denovo-db |
| Pathway ID | Pathway Name |
|---|
| hsa02010 | ABC transporters |
| Desease ID | Desease Name |
|---|
| 1705 | Retinitis pigmentosa |
| 1808 | Eye disease |
| 1832 | Congenital abnormality |
| 1911 | Intestinal disease |
| 2178 | Retinal disease |
| Desease Name |
|---|
| Macular Degeneration |
| cone-rod dystrophy macular dystrophy retinitis pigmentosa |
| Late-onset Stargardt disease |
| VISION |
| Desease Name |
|---|
| Stargardt disease-1 |
| Retinal dystrophy, early-onset severe |
| Macular degeneration, age-related, 2 |
| Cone-rod dystrophy 3 |
| Retinitis pigmentosa-19 |
| Fundus flavimaculatus |
| Chemical ID |
Chemical Name |
Interaction |
Interaction Action |
Publication |
|---|
| C006253 |
pirinixic acid |
pirinixic acid results in increased expression of ABCA4 mRNA | increases expression | 20059764
|
| C006253 |
pirinixic acid |
PPARA protein promotes the reaction [pirinixic acid results in increased expression of ABCA4 mRNA] | increases expression|increases reaction | 20059764
|
| D012172 |
Retinaldehyde |
ABCA4 protein affects the transport of Retinaldehyde | affects transport | 16968212
|
| Disease ID |
Disease Name |
Direct Evidence |
Inference Chemical Name |
Inference Score |
Publication |
|---|
| MESH:D055371 |
Acute Lung Injury |
|
pirinixic acid |
3.72 | 18653653 |
| MESH:D018248 |
Adenoma, Liver Cell |
|
pirinixic acid |
4.37 | 16434500 |
| MESH:D001778 |
Blood Coagulation Disorders |
|
pirinixic acid |
3.70 | 19483382 |
| MESH:D002779 |
Cholestasis |
|
pirinixic acid |
3.19 | 19176532 |
| MESH:D002971 |
Cleft Lip |
marker/mechanism |
|
| 20436469 |
| OMIM:604116 |
CONE-ROD DYSTROPHY 3 |
marker/mechanism |
|
| |
| MESH:D003876 |
Dermatitis, Atopic |
|
pirinixic acid |
2.61 | 18249437 |
| MESH:D004487 |
Edema |
|
pirinixic acid |
3.02 | 12083418 |
| MESH:D005234 |
Fatty Liver |
|
pirinixic acid |
3.31 | 20131406 19236843 |
| MESH:D006333 |
Heart Failure |
|
pirinixic acid |
2.81 | 20558911 |
| MESH:D006529 |
Hepatomegaly |
|
pirinixic acid |
3.76 | 18467677 16221962 19176532 19772884 |
| MESH:D006943 |
Hyperglycemia |
|
pirinixic acid |
3.69 | 20558911 |
| MESH:D007333 |
Insulin Resistance |
|
pirinixic acid |
2.93 | 16306350 |
| MESH:D008106 |
Liver Cirrhosis, Experimental |
|
pirinixic acid |
3.13 | 15474484 |
| MESH:D008106 |
Liver Cirrhosis, Experimental |
|
Retinaldehyde |
3.13 | 16248980 |
| MESH:D008113 |
Liver Neoplasms |
|
pirinixic acid |
1.95 | 20007298 15890375 16377806 |
| MESH:D008268 |
Macular Degeneration |
marker/mechanism |
|
| 16968212 |
| MESH:D009135 |
Muscular Diseases |
|
pirinixic acid |
4.27 | 16239165 |
| MESH:D009203 |
Myocardial Infarction |
|
pirinixic acid |
2.30 | 19151258 |
| MESH:D015428 |
Myocardial Reperfusion Injury |
|
pirinixic acid |
3.33 | 16411023 |
| MESH:D009369 |
Neoplasms |
|
pirinixic acid |
2.14 | 17405874 |
| MESH:D009765 |
Obesity |
|
pirinixic acid |
1.90 | 20558911 |
| MESH:D015427 |
Reperfusion Injury |
|
pirinixic acid |
2.58 | 19058328 |
| MESH:D012174 |
Retinitis Pigmentosa |
marker/mechanism |
|
| 16968212 |
| MESH:C535804 |
Stargardt disease 1 |
marker/mechanism |
|
| |
| Pathway ID |
Pathway Name |
|---|
| KEGG:02010 |
ABC transporters |
PharmGKB Accession:PA24379
| Releated gene ID |
Related gene Name |
| PA24379 | ABCA4 |
Drug Bank