chr9:107543287:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr9:107,543,287-107,690,436
hg38 chr9:104,781,006-104,928,155 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 squamous cell carcinoma NA BeFree Detail
0.011 Cardiovascular Diseases ATP binding cassette transporter 1 (ABCB1) plays a critical role in the developm... BeFree,GAD 25118983 Detail
0.002 Carotid Artery Diseases NA GAD Detail
0.005 intracranial arteriosclerosis NA GAD Detail
0.006 cerebral infarction NA BeFree,GAD Detail
0.005 brain ischemia NA GAD Detail
<0.001 cholesterol ester storage disease NA BeFree Detail
0.001 colorectal carcinoma NA BeFree Detail
0.120 Colorectal Neoplasms NA CTD_human Detail
<0.001 Congenital cataract NA BeFree Detail
<0.001 Crohn Disease NA BeFree Detail
<0.001 Cyanosis NA BeFree Detail
<0.001 Presenile dementia NA BeFree Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
0.003 dermatitis NA BeFree,LHGDN Detail
<0.001 Dermatitis, Atopic NA BeFree Detail
0.002 Diabetes In the present study, the effects of metabolites of diabetes and ischemia were o... BeFree 24796288 Detail
0.002 Diabetes Diabetes susceptibility in Mayas: Evidence for the involvement of polymorphisms ... BeFree 25839936 Detail
0.005 diabetes mellitus In the present study, the effects of metabolites of diabetes and ischemia were o... BeFree,LHGDN 24796288 Detail
0.005 diabetes mellitus Diabetes susceptibility in Mayas: Evidence for the involvement of polymorphisms ... BeFree,LHGDN 25839936 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
<0.001 Diabetic Nephropathy NA BeFree Detail
<0.001 eclampsia NA BeFree Detail
<0.001 Eczema NA BeFree Detail
<0.001 endometriosis NA BeFree Detail
0.081 Fatty Liver Increased expression of ATP-binding cassette transporter A1 (ABCA1) as a possibl... BeFree,RGD 26362727 Detail
<0.001 fibrosarcoma NA BeFree Detail
<0.001 glaucoma NA BeFree Detail
<0.001 primary angle-closure glaucoma Evaluation of the Association Between Common Genetic Variants Near the ABCA1 Gen... BeFree 26431478 Detail
0.001 Glioma Our findings indicate that de novo SL synthesis, S1P receptor-mediated signaling... BeFree 26002572 Detail
0.120 IgA glomerulonephritis NA CTD_human Detail
0.080 membranous glomerulonephritis NA RGD Detail
<0.001 Glycogen Storage Disease Type I NA BeFree Detail
0.001 chronic granulomatous disease NA BeFree Detail
<0.001 Hay fever Here, we assayed the key Th2 cytokine, IL-4, and its soluble and membrane-bound ... BeFree 25130266 Detail
<0.001 hepatitis C Up-regulation of the ATP-binding cassette transporter A1 inhibits hepatitis C vi... BeFree 24646941 Detail
<0.001 Hepatolenticular Degeneration NA BeFree Detail
<0.001 Herpes Simplex Infections NA BeFree Detail
0.006 HIV Infections Indeed, PAR1 upregulation leads to the inhibition of membrane-bound furin, PC5B,... BeFree,GAD 26283733 Detail
<0.001 Hodgkin Disease NA BeFree Detail
<0.001 Huntington disease Molecular perturbation of cholesterol biosynthesis and efflux in astrocytes caus... BeFree 25301063 Detail
0.130 Hypercholesterolemia NA BeFree,CTD_human,GAD,LHGDN Detail
0.124 Hypercholesterolemia, Familial NA BeFree,CTD_human,GAD Detail
<0.001 hyperglycemia NA BeFree Detail
0.095 Hyperlipidemia Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with ... BeFree,GAD,RGD 25110219 Detail
<0.001 Hyperlipidemia, Familial Combined We investigated the effect of dalcetrapib treatment on phytosterol levels in pat... BeFree 25281277 Detail
0.008 Hypertensive disease NA BeFree,GAD,LHGDN Detail
0.002 Hypertriglyceridemia NA GAD Detail
0.002 Hypolipoproteinemias NA GAD Detail
0.002 Inflammation NA GAD Detail
<0.001 Inflammatory Bowel Diseases NA BeFree Detail
<0.001 influenza HA is a membrane bound homotrimer in the influenza virus envelope, and the purif... BeFree 25540031 Detail
0.005 Insulin resistance NA GAD Detail
<0.001 ischemia In the present study, the effects of metabolites of diabetes and ischemia were o... BeFree 24796288 Detail
<0.001 Creutzfeldt-Jakob disease NA BeFree Detail
<0.001 Kidney Diseases NA BeFree Detail
0.123 Kidney Failure, Chronic These results suggest that the variation in the expression profile of membrane b... BeFree,CTD_human,GAD 24929145 Detail
<0.001 Kidney Neoplasm NA BeFree Detail
<0.001 Menkes Kinky Hair Syndrome NA BeFree Detail
0.002 Premature Obstetric Labor NA GAD Detail
<0.001 Lecithin Acyltransferase Deficiency NA BeFree Detail
<0.001 leukemia NA BeFree Detail
0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Lipoidosis NA BeFree Detail
0.001 Liver neoplasms We show that the up-regulation of ABCA1 gene expression and its cholesterol effl... BeFree 24646941 Detail
0.003 Chronic Obstructive Airway Disease NA BeFree,GAD Detail
<0.001 Lung Neoplasms NA BeFree Detail
<0.001 Lupus Erythematosus, Systemic NA BeFree Detail
<0.001 lymphoma Ad-ISF35, an adenovirus vector encoding a membrane-bound engineered CD154 chimer... BeFree 25382101 Detail
<0.001 Lymphoproliferative Disorders NA BeFree Detail
<0.001 malaria NA BeFree Detail
<0.001 Malaria, Cerebral NA BeFree Detail
<0.001 Malaria, Falciparum NA BeFree Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
<0.001 paroxysmal nocturnal hemoglobinuria NA BeFree Detail
<0.001 Marijuana Abuse Adolescents with the Met/Met genotype and high rates of MB-COMT promoter methyla... BeFree 24902721 Detail
0.003 melanoma NA BeFree Detail
0.001 Metabolic Diseases Genetic defects in ATP binding cassette protein (ABCA1), apolipoprotein (APO) A1... BeFree 24916532 Detail
0.001 Metabolic Diseases ATP-binding cassette transporter A1: key player in cardiovascular and metabolic ... BeFree 24992457 Detail
<0.001 mitral valve stenosis NA BeFree Detail
<0.001 multiple myeloma Furthermore, we found that the blocking of membrane-bound HLA class I rather tha... BeFree 24850305 Detail
<0.001 multiple sclerosis NA BeFree Detail
<0.001 Myeloproliferative disease NA BeFree Detail
0.022 myocardial infarction The aim was to investigate the role of peripheral blood mononuclear cell (PBMNC)... BeFree,GAD,LHGDN 24796288 Detail
0.022 myocardial infarction Bioinformatic analysis of this differential gene-set for associated pathways rev... BeFree,GAD,LHGDN 24801707 Detail
<0.001 Myotonic dystrophy NA BeFree Detail
0.004 Neoplasm Metastasis Membrane-bound and truncated β3-integrins were shown to be key players in cancer... BeFree 24919191 Detail
0.004 Neoplasm Metastasis Claudin-4 is frequently expressed in primary breast cancers but especially in th... BeFree 25417118 Detail
0.004 Neoplasm Metastasis Thus, PTPN14 prevents metastasis by restricting the trafficking of both soluble ... BeFree 25690013 Detail
<0.001 nephroblastoma NA BeFree Detail
0.003 nephrotic syndrome NA BeFree,GAD Detail
<0.001 nervous system disorder NA BeFree Detail
0.002 neuroblastoma NA BeFree Detail
0.003 Niemann-Pick Diseases NA LHGDN Detail
0.004 obesity Current data exclude a major function of these syntrophins in ABCA1 activity and... BeFree,GAD 25625330 Detail
0.004 obesity We investigated the effect of cilostazol on hepatic ABCA1 expression and hepatic... BeFree,GAD 26362727 Detail
<0.001 Degenerative polyarthritis Our findings suggest, for the first time to our knowledge, that miR-33a regulate... BeFree 25880168 Detail
<0.001 osteosarcoma NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
<0.001 Peptic Ulcer NA BeFree Detail
0.120 Peripheral neuropathy NA CTD_human Detail
<0.001 plague NA BeFree Detail
<0.001 pulmonary alveolar proteinosis NA BeFree Detail
<0.001 Henoch-Schoenlein purpura NA BeFree Detail
0.002 Radiodermatitis NA GAD Detail
0.003 schizophrenia NA BeFree,GAD Detail
<0.001 Severe mental retardation (I.Q. 20-34) NA BeFree Detail
<0.001 Sezary syndrome NA BeFree Detail
<0.001 gastric ulcer NA BeFree Detail
0.011 Cerebrovascular accident Replication of protein-coding variants in candidate genes was observed for 2 pre... BeFree,GAD 25961151 Detail
<0.001 Subarachnoid Hemorrhage NA BeFree Detail
<0.001 syringomyelia NA BeFree Detail
0.599 Tangier disease Tangier disease (TD) is a rare autosomal recessive disorder, resulting from muta... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25227739 Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Vascular Diseases NA BeFree Detail
<0.001 Virus Diseases Up-regulation of the ATP-binding cassette transporter A1 inhibits hepatitis C vi... BeFree 24646941 Detail
<0.001 intestinal volvulus NA BeFree Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
<0.001 cerebral amyloid angiopathy NA BeFree Detail
<0.001 antiphospholipid syndrome NA BeFree Detail
<0.001 Synovial Cyst NA BeFree Detail
0.001 Ischemic stroke We investigated 244 unrelated, consecutively enrolled patients with ischemic str... BeFree 16446539 Detail
<0.001 Ischemic Cerebrovascular Accident We investigated 244 unrelated, consecutively enrolled patients with ischemic str... BeFree 16446539 Detail
<0.001 Chronic sinusitis P-glycoprotein (P-gp) is a membrane-bound efflux pump that is up-regulated in eo... BeFree 24717943 Detail
0.016 Myocardial Ischemia NA BeFree,GAD,LHGDN Detail
<0.001 Malignant neoplasm of brain NA BeFree Detail
<0.001 Malignant neoplasm of thorax NA BeFree Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 Lipid Metabolism Disorders NA BeFree Detail
0.011 Cardiovascular Diseases Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patien... BeFree 16446539 Detail
0.011 Cerebrovascular accident Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms m... BeFree 16446539 Detail
<0.001 acute myocardial infarction Peripheral Blood Mononuclear Cell ABCA1 Transcripts and Protein Expression in Ac... BeFree 24796288 Detail
0.044 Coronary heart disease Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms m... BeFree 16446539 Detail
<0.001 Atherosclerosis of aorta The present study demonstrates that Dgn enhances ABCA1-dependent cholesterol eff... BeFree 25765596 Detail
<0.001 adrenoleukodystrophy NA BeFree Detail
0.002 Malnutrition NA GAD Detail
<0.001 Prion Diseases NA BeFree Detail
<0.001 Aortic Aneurysm, Abdominal Membrane-Bound Thrombomodulin Regulates Macrophage Inflammation in Abdominal Aor... BeFree 26338301 Detail
<0.001 Smith-Lemli-Opitz syndrome NA BeFree Detail
0.003 Tumor Progression NA BeFree Detail
<0.001 hepatoblastoma Here, we investigated the role of microRNA-101 (miR-101) in regulating ATP-bindi... BeFree 26033364 Detail
<0.001 embryonal carcinoma NA BeFree Detail
<0.001 sebaceous adenocarcinoma NA BeFree Detail
<0.001 Cervical Intraepithelial Neoplasia NA BeFree Detail
<0.001 Metastatic malignant neoplasm to brain NA BeFree Detail
<0.001 Niemann-Pick disease, type C NA BeFree Detail
<0.001 Muscle twitch NA BeFree Detail
<0.001 Memory impairment NA BeFree Detail
<0.001 Malignant neoplasm of female breast NA BeFree Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Gastrointestinal Stromal Tumors NA BeFree Detail
0.005 coronary stenosis NA BeFree,GAD Detail
0.008 Dyslipidemias NA BeFree,GAD Detail
<0.001 Erectile dysfunction Levels of human erythrocyte membrane-bound and cytosolic glycohydrolases are ass... BeFree 25165407 Detail
0.003 Malignant neoplasm of lung NA BeFree,GAD Detail
0.010 age related macular degeneration NA BeFree,GAD Detail
<0.001 Chronic Periodontitis NA BeFree Detail
<0.001 Niemann-Pick disease, type B NA BeFree Detail
<0.001 Hereditary Cerebral Amyloid Angiopathy, Dutch Type NA BeFree Detail
<0.001 Impaired glucose tolerance Furthermore, other than its established role in regulating insulin secretion by ... BeFree 24992457 Detail
<0.001 Coinfection NA BeFree Detail
<0.001 Rhinovirus infection NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 Adenocarcinoma of pancreas NA BeFree Detail
<0.001 Congenital Disorders of Glycosylation NA BeFree Detail
<0.001 Xanthoma NA BeFree Detail
0.001 Senile Plaques NA BeFree Detail
<0.001 Adenocarcinoma of colon NA BeFree Detail
0.001 Glaucoma, Primary Open Angle Genes found to date associated with IOP and POAG are ABCA1, CAV1/CAV2, GAS7 and ... BeFree 25637523 Detail
0.001 Glaucoma, Primary Open Angle Recently, three large genome-wide association studies have identified multiple v... BeFree 26431478 Detail
0.002 Complications of Diabetes Mellitus NA GAD Detail
0.120 Apolipoprotein A-I deficiency NA ORPHANET Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Disseminated Malignant Neoplasm NA BeFree Detail
<0.001 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
0.001 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
0.003 Malignant neoplasm of prostate Another emerging strategy could be based on prostate specific membrane antigen (... BeFree 25469883 Detail
<0.001 Hematologic Neoplasms NA BeFree Detail
<0.001 Immunoglobulin G2 deficiency NA BeFree Detail
<0.001 Non-alcoholic Fatty Liver Disease miR-101 promotes intracellular cholesterol retention under inflammatory conditio... BeFree 26033364 Detail
<0.001 Primary antiphospholipid syndrome NA BeFree Detail
<0.001 Congenital Myotonic Dystrophy NA BeFree Detail
0.125 Hypoalphalipoproteinemias NA CTD_human,GAD,LHGDN Detail
0.010 dementia NA BeFree,GAD,LHGDN Detail
0.004 Overweight NA BeFree,GAD Detail
0.002 body mass NA GAD Detail
<0.001 Sleep Apnea, Obstructive ABCA1 expression and cellular cholesterol efflux in macrophages were significant... BeFree 25001295 Detail
0.126 Metabolic syndrome X Negative results in screening for possible new sequence variations on ATP-bindin... BeFree,GAD,GWASCAT 25362942 Detail
<0.001 Neurodegenerative Disorders ABCA1 is transcriptionally regulated by Liver X Receptors (LXR) and Retinoic X R... BeFree 24844148 Detail
<0.001 Ewings sarcoma NA BeFree Detail
<0.001 Malignant glioma NA BeFree Detail
<0.001 Carotid Atherosclerosis NA BeFree Detail
<0.001 Osteosarcoma of bone NA BeFree Detail
<0.001 Intraocular pressure disorder NA BeFree Detail
0.001 Carcinogenesis NA BeFree Detail
<0.001 Neurogenic hypertension NA BeFree Detail
0.003 prostate carcinoma Another emerging strategy could be based on prostate specific membrane antigen (... BeFree 25469883 Detail
<0.001 invasive cancer NA BeFree Detail
0.004 breast carcinoma To investigate the relative contributions of soluble and membrane-bound TβRIII o... BeFree 24966170 Detail
0.004 breast carcinoma Membrane-bound complement regulatory proteins are prognostic factors of operable... BeFree 25241923 Detail
0.004 breast carcinoma Claudin-4 is frequently expressed in primary breast cancers but especially in th... BeFree 25417118 Detail
0.001 Carcinoma of lung NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
0.002 Central neuroblastoma NA BeFree Detail
<0.001 Microalbuminuria NA BeFree Detail
0.120 Hyperlipoproteinemia Type IIa NA CTD_human Detail
<0.001 Memory Loss NA BeFree Detail
0.002 intracranial thrombosis NA GAD Detail
<0.001 chylomicron retention disease NA BeFree Detail
<0.001 Opitz trigonocephaly syndrome Genetic defects in ATP binding cassette protein (ABCA1), apolipoprotein (APO) A1... BeFree 24916532 Detail
<0.001 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 NA BeFree Detail
0.044 Coronary heart disease ABCA1 rs4149313 polymorphism and susceptibility to coronary heart disease: a met... BeFree 24942079 Detail
0.026 Coronary Arteriosclerosis ABCA1 rs4149313 polymorphism and susceptibility to coronary heart disease: a met... BeFree 24942079 Detail
<0.001 Endothelial dysfunction NA BeFree Detail
<0.001 Optic Atrophy, Hereditary, Leber NA BeFree Detail
<0.001 Metastatic Prostate Carcinoma The increased proteolytic activity of membrane-bound and secreted proteases on t... BeFree 25672980 Detail
<0.001 Vascular inflammations NA BeFree Detail
0.001 Ischemic stroke In addition, ZFHX3 and ABCA1 were discovered to have protein-coding variants ass... BeFree 25961151 Detail
0.003 Acute coronary syndrome NA BeFree,GAD Detail
<0.001 Venoocclusive disease NA BeFree Detail
<0.001 cutaneous mastocytosis NA BeFree Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
<0.001 Myxoid cyst NA BeFree Detail
<0.001 Drusen NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
<0.001 Bronchiolo-alveolar carcinoma, mucinous NA BeFree Detail
<0.001 Enthesitis NA BeFree Detail
<0.001 Chronic myeloproliferative disorder NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
0.005 Mammary Neoplasms NA BeFree,GAD,LHGDN Detail
<0.001 Tumor-Associated Vasculature NA BeFree Detail
<0.001 Tumor Angiogenesis NA BeFree Detail
0.002 Hypertriglyceridemia result NA GAD Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Cardioembolic stroke Replication of protein-coding variants in candidate genes was observed for 2 pre... BeFree 25961151 Detail
<0.001 Pneumocystis jiroveci pneumonia NA BeFree Detail
<0.001 Chronic Kidney Diseases NA BeFree Detail
<0.001 tumor vasculature NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
0.366 Hypoalphalipoproteinemia, Familial We investigated the effect of dalcetrapib treatment on phytosterol levels in pat... BeFree,CLINVAR,ORPHANET,UNIPROT 25281277 Detail
<0.001 Channelopathies NA BeFree Detail
0.080 Membranoproliferative Glomerulonephritis, X-Linked NA MGD Detail
<0.001 Photoreceptor degeneration NA BeFree Detail
0.082 liver carcinoma We show that the up-regulation of ABCA1 gene expression and its cholesterol effl... BeFree,RGD 24646941 Detail
0.120 Allergic rhinitis (disorder) NA GWASCAT Detail
<0.001 Extramedullary Hematopoiesis (disorder) NA BeFree Detail
<0.001 Steatohepatitis Increased expression of ATP-binding cassette transporter A1 (ABCA1) as a possibl... BeFree 26362727 Detail
0.125 Familial HDL deficiency NA BeFree,CTD_human Detail
<0.001 Plaque, Amyloid NA BeFree Detail
0.002 Cerebral Hemorrhage NA GAD Detail
<0.001 High density lipoprotein deficiency NA BeFree Detail
<0.001 Ischemic Cerebrovascular Accident In addition, ZFHX3 and ABCA1 were discovered to have protein-coding variants ass... BeFree 25961151 Detail
<0.001 Juvenile arthritis NA BeFree Detail
<0.001 Allergic disposition NA BeFree Detail
<0.001 Placental Malformation NA BeFree Detail
<0.001 Neutrophilia (disorder) NA BeFree Detail
<0.001 Middle East respiratory syndrome NA BeFree Detail
<0.001 juvenile rheumatoid arthritis NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
0.041 Alzheimer's disease This study shows that 24-hydroxycholesterol, 27-hydroxycholesterol, and 7β-hydro... BeFree,GAD,LHGDN 24802026 Detail
0.041 Alzheimer's disease This review summarizes the recent results of research on ABCA1, particularly rel... BeFree,GAD,LHGDN 24844148 Detail
<0.001 Amnesia NA BeFree Detail
<0.001 aplastic anemia NA BeFree Detail
0.002 Angina Pectoris NA GAD Detail
<0.001 aortic aneurysm Membrane-bound TM in macrophages plays an essential role in the development of A... BeFree 26338301 Detail
<0.001 arthritis NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
<0.001 asthma NA BeFree Detail
<0.001 bipolar disorder Expression of transcripts for membrane bound receptors and ion channels was sign... BeFree 25116795 Detail
0.003 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
<0.001 Blood Coagulation Disorders NA BeFree Detail
<0.001 Bloom syndrome NA BeFree Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.005 Malignant neoplasm of breast To investigate the relative contributions of soluble and membrane-bound TβRIII o... BeFree 24966170 Detail
0.005 Malignant neoplasm of breast Membrane-bound complement regulatory proteins are prognostic factors of operable... BeFree 25241923 Detail
0.005 Malignant neoplasm of breast Claudin-4 is frequently expressed in primary breast cancers but especially in th... BeFree 25417118 Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 female breast carcinoma NA BeFree Detail
<0.001 Carcinoma, Ehrlich Tumor NA BeFree Detail
0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
ATP binding cassette transporter 1 (ABCB1) plays a critical role in the development and progression ... DisGeNET Detail
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In the present study, the effects of metabolites of diabetes and ischemia were observed on PBMNC ABC... DisGeNET Detail
Diabetes susceptibility in Mayas: Evidence for the involvement of polymorphisms in HHEX, HNF4α, KCNJ... DisGeNET Detail
In the present study, the effects of metabolites of diabetes and ischemia were observed on PBMNC ABC... DisGeNET Detail
Diabetes susceptibility in Mayas: Evidence for the involvement of polymorphisms in HHEX, HNF4α, KCNJ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Increased expression of ATP-binding cassette transporter A1 (ABCA1) as a possible mechanism for the ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Evaluation of the Association Between Common Genetic Variants Near the ABCA1 Gene and Primary Angle ... DisGeNET Detail
Our findings indicate that de novo SL synthesis, S1P receptor-mediated signaling, and ABCA1-mediated... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we assayed the key Th2 cytokine, IL-4, and its soluble and membrane-bound receptor in patients... DisGeNET Detail
Up-regulation of the ATP-binding cassette transporter A1 inhibits hepatitis C virus infection. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Indeed, PAR1 upregulation leads to the inhibition of membrane-bound furin, PC5B, and PC7 and inhibit... DisGeNET Detail
NA DisGeNET Detail
Molecular perturbation of cholesterol biosynthesis and efflux in astrocytes caused similarly altered... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with hyperlipidemia in th... DisGeNET Detail
We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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HA is a membrane bound homotrimer in the influenza virus envelope, and the purified rHA protein asse... DisGeNET Detail
NA DisGeNET Detail
In the present study, the effects of metabolites of diabetes and ischemia were observed on PBMNC ABC... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These results suggest that the variation in the expression profile of membrane bound and soluble iso... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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We show that the up-regulation of ABCA1 gene expression and its cholesterol efflux function in Huh7.... DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
Ad-ISF35, an adenovirus vector encoding a membrane-bound engineered CD154 chimeric protein (ISF35), ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Adolescents with the Met/Met genotype and high rates of MB-COMT promoter methylation were less likel... DisGeNET Detail
NA DisGeNET Detail
Genetic defects in ATP binding cassette protein (ABCA1), apolipoprotein (APO) A1, lecithin cholester... DisGeNET Detail
ATP-binding cassette transporter A1: key player in cardiovascular and metabolic disease at local and... DisGeNET Detail
NA DisGeNET Detail
Furthermore, we found that the blocking of membrane-bound HLA class I rather than HLA-G using antibo... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The aim was to investigate the role of peripheral blood mononuclear cell (PBMNC) ABCA1 expression in... DisGeNET Detail
Bioinformatic analysis of this differential gene-set for associated pathways revealed 1) increasing ... DisGeNET Detail
NA DisGeNET Detail
Membrane-bound and truncated β3-integrins were shown to be key players in cancer metastasis. DisGeNET Detail
Claudin-4 is frequently expressed in primary breast cancers but especially in their metastases and i... DisGeNET Detail
Thus, PTPN14 prevents metastasis by restricting the trafficking of both soluble and membrane-bound p... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Current data exclude a major function of these syntrophins in ABCA1 activity and insulin release but... DisGeNET Detail
We investigated the effect of cilostazol on hepatic ABCA1 expression and hepatic steatosis in diet-i... DisGeNET Detail
Our findings suggest, for the first time to our knowledge, that miR-33a regulates cholesterol synthe... DisGeNET Detail
NA DisGeNET Detail
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Replication of protein-coding variants in candidate genes was observed for 2 previously reported GWA... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP bin... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Up-regulation of the ATP-binding cassette transporter A1 inhibits hepatitis C virus infection. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We investigated 244 unrelated, consecutively enrolled patients with ischemic stroke, 150 patients wi... DisGeNET Detail
We investigated 244 unrelated, consecutively enrolled patients with ischemic stroke, 150 patients wi... DisGeNET Detail
P-glycoprotein (P-gp) is a membrane-bound efflux pump that is up-regulated in eosinophilic chronic r... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascu... DisGeNET Detail
Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms may be associated wit... DisGeNET Detail
Peripheral Blood Mononuclear Cell ABCA1 Transcripts and Protein Expression in Acute Myocardial Infar... DisGeNET Detail
Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms may be associated wit... DisGeNET Detail
The present study demonstrates that Dgn enhances ABCA1-dependent cholesterol efflux and inhibits aor... DisGeNET Detail
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Membrane-Bound Thrombomodulin Regulates Macrophage Inflammation in Abdominal Aortic Aneurysm. DisGeNET Detail
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Here, we investigated the role of microRNA-101 (miR-101) in regulating ATP-binding cassette transpor... DisGeNET Detail
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Levels of human erythrocyte membrane-bound and cytosolic glycohydrolases are associated with oxidati... DisGeNET Detail
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Furthermore, other than its established role in regulating insulin secretion by β-cells, evidence is... DisGeNET Detail
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Genes found to date associated with IOP and POAG are ABCA1, CAV1/CAV2, GAS7 and TMCO1. DisGeNET Detail
Recently, three large genome-wide association studies have identified multiple variants associated w... DisGeNET Detail
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Another emerging strategy could be based on prostate specific membrane antigen (PSMA), a unique memb... DisGeNET Detail
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miR-101 promotes intracellular cholesterol retention under inflammatory conditions through suppressi... DisGeNET Detail
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ABCA1 expression and cellular cholesterol efflux in macrophages were significantly decreased in OSAH... DisGeNET Detail
Negative results in screening for possible new sequence variations on ATP-binding cassette transport... DisGeNET Detail
ABCA1 is transcriptionally regulated by Liver X Receptors (LXR) and Retinoic X Receptors (RXR) which... DisGeNET Detail
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Another emerging strategy could be based on prostate specific membrane antigen (PSMA), a unique memb... DisGeNET Detail
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To investigate the relative contributions of soluble and membrane-bound TβRIII on TGF-β signaling an... DisGeNET Detail
Membrane-bound complement regulatory proteins are prognostic factors of operable breast cancer treat... DisGeNET Detail
Claudin-4 is frequently expressed in primary breast cancers but especially in their metastases and i... DisGeNET Detail
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Genetic defects in ATP binding cassette protein (ABCA1), apolipoprotein (APO) A1, lecithin cholester... DisGeNET Detail
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ABCA1 rs4149313 polymorphism and susceptibility to coronary heart disease: a meta-analysis. DisGeNET Detail
ABCA1 rs4149313 polymorphism and susceptibility to coronary heart disease: a meta-analysis. DisGeNET Detail
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The increased proteolytic activity of membrane-bound and secreted proteases on the surface of cancer... DisGeNET Detail
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In addition, ZFHX3 and ABCA1 were discovered to have protein-coding variants associated with ischemi... DisGeNET Detail
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Replication of protein-coding variants in candidate genes was observed for 2 previously reported GWA... DisGeNET Detail
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We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial ... DisGeNET Detail
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We show that the up-regulation of ABCA1 gene expression and its cholesterol efflux function in Huh7.... DisGeNET Detail
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Increased expression of ATP-binding cassette transporter A1 (ABCA1) as a possible mechanism for the ... DisGeNET Detail
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In addition, ZFHX3 and ABCA1 were discovered to have protein-coding variants associated with ischemi... DisGeNET Detail
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This study shows that 24-hydroxycholesterol, 27-hydroxycholesterol, and 7β-hydroxycholesterol, the t... DisGeNET Detail
This review summarizes the recent results of research on ABCA1, particularly relevant to atheroscler... DisGeNET Detail
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Membrane-bound TM in macrophages plays an essential role in the development of AAA by enhancing proi... DisGeNET Detail
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Expression of transcripts for membrane bound receptors and ion channels was significantly increased ... DisGeNET Detail
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To investigate the relative contributions of soluble and membrane-bound TβRIII on TGF-β signaling an... DisGeNET Detail
Membrane-bound complement regulatory proteins are prognostic factors of operable breast cancer treat... DisGeNET Detail
Claudin-4 is frequently expressed in primary breast cancers but especially in their metastases and i... DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386556114 dbSNP
Genome
hg19
Position
chr9:107,543,287-107,690,436
Variant Type
snv
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