ABCA1 - ATP binding cassette subfamily A member 1 Gene

Also Known as TGD; ABC1; CERP; ABC-1; HDLDT1; HPALP1; HDLCQTL13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 19

About ABCA1

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:104,781,006-104,928,155 (from NCBI)

This gene has 5 transcripts (splice variants), 306 orthologues, 11 paralogues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 14.4), fat (RPKM 9.9) and 23 other tissues.

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With Cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

ABCA1 Products (1)

mRNA Protein Name
NM_005502.4 NP_005493.2 phospholipid-transporting ATPase ABCA1
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
11700048 GOA
enables ATPase binding IPI
IPI: Inferred from physical interaction
23931754 GOA
enables apolipoprotein A-I binding IPI
IPI: Inferred from physical interaction
11162594 GOA
enables apolipoprotein A-I receptor activity IDA
IDA: Inferred from direct assay
16443932 GOA
enables apolipoprotein binding IPI
IPI: Inferred from physical interaction
11162594 GOA
enables cholesterol transfer activity IDA
IDA: Inferred from direct assay
12084722 GOA
enables floppase activity IDA
IDA: Inferred from direct assay
16702602 GOA
enables phosphatidylcholine binding IDA
IDA: Inferred from direct assay
24097981 GOA
enables phosphatidylcholine floppase activity IDA
IDA: Inferred from direct assay
16702602 GOA
enables phosphatidylcholine floppase activity IMP
IMP: Inferred from mutant phenotype
35974019 GOA
enables phosphatidylserine floppase activity IDA
IDA: Inferred from direct assay
24097981 GOA
enables phospholipid transporter activity IGI
IGI: Inferred from genetic interaction
28373057 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12084722 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
23931754 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
16443932 GOA
enables sphingolipid floppase activity IDA
IDA: Inferred from direct assay
24097981 GOA
enables syntaxin binding IPI
IPI: Inferred from physical interaction
15469992 GOA
Biological Process GO Annotation Evidence References Source
involved in G protein-coupled receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
16443932 GOA
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
14701824 GOA
involved in cholesterol efflux IDA
IDA: Inferred from direct assay
10431236 GOA
involved in cholesterol efflux IGI
IGI: Inferred from genetic interaction
28373057 GOA
involved in cholesterol efflux IMP
IMP: Inferred from mutant phenotype
16443932 GOA
involved in cholesterol homeostasis IDA
IDA: Inferred from direct assay
10431236 GOA
involved in cholesterol metabolic process IDA
IDA: Inferred from direct assay
14747463 GOA
involved in endosomal transport IDA
IDA: Inferred from direct assay
14747463 GOA
involved in high-density lipoprotein particle assembly IMP
IMP: Inferred from mutant phenotype
10431236 GOA
involved in intracellular cholesterol transport IMP
IMP: Inferred from mutant phenotype
10431236 GOA
involved in lysosome organization IDA
IDA: Inferred from direct assay
15163665 GOA
involved in phospholipid efflux IDA
IDA: Inferred from direct assay
10431236 GOA
involved in phospholipid efflux IGI
IGI: Inferred from genetic interaction
28373057 GOA
involved in phospholipid efflux IMP
IMP: Inferred from mutant phenotype
16702602 GOA
involved in phospholipid homeostasis IMP
IMP: Inferred from mutant phenotype
16702602 GOA
involved in phospholipid translocation IDA
IDA: Inferred from direct assay
24097981 GOA
involved in platelet dense granule organization IMP
IMP: Inferred from mutant phenotype
15163665 GOA
involved in protein secretion IMP
IMP: Inferred from mutant phenotype
11855831 GOA
involved in regulation of Cdc42 protein signal transduction IMP
IMP: Inferred from mutant phenotype
16443932 GOA
involved in response to laminar fluid shear stress IDA
IDA: Inferred from direct assay
15358760 GOA
involved in reverse cholesterol transport IMP
IMP: Inferred from mutant phenotype
10431236 GOA
involved in signal release IMP
IMP: Inferred from mutant phenotype
11855831 GOA
Cellular Component GO Annotation Evidence References Source
located in endocytic vesicle IDA
IDA: Inferred from direct assay
14747463 GOA
located in endosome IDA
IDA: Inferred from direct assay
24097981 GOA
located in intracellular vesicle IDA
IDA: Inferred from direct assay
28373057 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
15469992 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
23931754 GOA
located in phagocytic vesicle IDA
IDA: Inferred from direct assay
15469992 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
10525055 GOA
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
35974019 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

phospholipid-transporting ATPase ABCA1

  • ATP-binding cassette sub-family A member 1

ABCA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ABCA1 O95477 STX12 Homo sapiens Q86Y82
IF
15469992
Intra
ABCA1 O95477 STX12 Homo sapiens Q86Y82 15469992
Intra
ABCA1 O95477 STX12 Homo sapiens Q86Y82 15469992
Intra
ABCA1 O95477 SNTB1 Homo sapiens Q13884 16192269
Intra
ABCA1 O95477 CANX Homo sapiens P27824 25170080
Intra
ABCA1 O95477 CANX Homo sapiens P27824 25170080
Intra
ABCA1 O95477 APOA1 Homo sapiens P02647 30458687
Intra
ABCA1 O95477 APOA1 Homo sapiens P02647 30458687
Intra
ABCA1 O95477 SNTA1 Homo sapiens Q13424 16192269
Intra
ABCA1 O95477 SNTA1 Homo sapiens Q13424 16192269
Intra
ABCA1 O95477 ABCA12 Homo sapiens Q86UK0 23931754
Intra
ABCA1 O95477 ABCA12 Homo sapiens Q86UK0 23931754
Intra
ABCA1 O95477 ABCA12 Homo sapiens Q86UK0
PLA
23931754
Intra
ABCA1 O95477 ABCA12 Homo sapiens Q86UK0 23931754
Cross: Cross-species interaction Intra: Intraspecies interaction

ABCA1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810289 ABCA1 Antibody WB Human, Mouse, Rat
HY-P83876 ABCA1 Antibody (YA3573) IHC-P, ICC/IF, FC Human, Mouse, Rat, Rabbit, Monkey
HY-P83876A ABCA1 Antibody (YA3573)(PBS only) IHC-P, ICC/IF, FC Human, Mouse, Rat, Rabbit, Monkey

Related Diseases

Diseases Alias
Tangier Disease
  • Analphalipoproteinemia

  • High Density Lipoprotein Deficiency, Tangier Type

  • TGD

  • High Density Lipoprotein Deficiency, Type 1

  • Hdldt1

  • Familial High Density Lipoprotein Deficiency

  • A-Alphalipoprotein Neuropathy

  • Alpha High Density Lipoprotein Deficiency Disease

  • Cholesterol Thesaurismosis

  • Familial High Density Lipoprotein Deficiency Disease

  • Hdl Lipoprotein Deficiency Disease

  • Tangier Disease Neuropathy

  • Familial Alpha-Lipoprotein Deficiency

  • Familial High-Density Lipoprotein Deficiency 1

  • Primary Hypoalphalipoproteinemia 1

  • Analphalipo-Proteinemia

  • Familial Hypoalphalipo-Proteinemia

  • Familial Hypoalphalipoproteinemia

  • Lipoprotein Deficiency Disease, Hdl, Familial

  • Tangier Hereditary Neuropathy

  • Atp-Binding Cassette Transporter A1 Deficiency

  • Hdld1

  • High Density Lipoprotein Deficiency 1

  • Tangier Disease, Variant

  • Hypoalphalipoproteinemia, Familial

  • Familial Hdl Deficiency

Hypoalphalipoproteinemia, Primary, 1
  • Familial Hdl Deficiency

  • Fha

  • High Density Lipoprotein Deficiency

  • Familial Hypoalphalipoproteinemia

  • Hypoalphalipoproteinemia, Familial

  • Hdld

  • Fhd

  • Hdl Deficiency, Type 2

  • Primary Hypoalphalipoproteinemia 1

  • Hdl Cholesterol, Low Serum

  • Hdlc

  • Hdl Deficiency, Familial, 1

  • Hypoalphalipoproteinemia, Primary

  • Low Serum Hdl Cholesterol

  • Primary Hypoalphalipoproteinemia

  • FHA1

  • Hdld2

  • High Density Lipoprotein Deficiency 2

  • Hypoalphalipoproteinemias

  • Apolipoprotein A-I Deficiency

Hypoalphalipoproteinemia, Primary, 2
  • Apolipoprotein A-I Deficiency

  • Hypoalphalipoproteinemia, Primary, 2, Autosomal Recessive

  • Primary Hypoalphalipoproteinemia 2

  • High Density Lipoprotein Deficiency

  • Apoa-I Deficiency

  • Familial Apoa-I Deficiency

  • Familial Hypoalphalipoproteinemia

  • FHA2

  • Apolipoprotein A-I

Hypolipoproteinemia
  • Hypolipoproteinaemia

  • Lipoprotein Deficiencies

  • Lipoprotein Disorder

  • Hypolipoproteinemias

  • Lipoprotein

  • Lipoprotein Deficiency

  • Hypolipidaemia

  • Lipoprotein Deficiency Disorder

  • High-Density Lipoid Deficiency

  • High-Density Lipoprotein Deficiency

  • Dyslipidaemia, Depressed Hdl Cholesterol

Hypoalphalipoproteinemia
Coronary Heart Disease 5
  • Coronary Heart Disease, Susceptibility To, 5

  • CHDS5

  • Coronary Artery Disease, Early-Onset

  • Coronary Artery Disease Early-Onset

  • Early-Onset Coronary Artery Disease

  • Heart, Coronary, Disease, Susceptibility To, Type 5

Scott Syndrome
  • SCTS

  • Bdplt7

  • Prothrombin Consumption Deficiency

  • Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

  • Bleeding Disorder, Platelet-Type, 7

  • Prothrombin Conversion Defect, Familial

  • Prothrombin Consumption Inhibitor, Familial

  • Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

  • Familial Prothrombin Consumption Inhibitor

  • Familial Prothrombin Conversion Defect

  • Platelet-Type Bleeding Disorder 7

  • Platelet Factor X Receptor Deficiency

  • Bleeding Disorder Platelet-Type 7

  • Prothrombin Consumption Inhibitor Familial

  • Prothrombin Conversion Defect Familial

Lysosomal Acid Lipase Deficiency
  • Wolman Disease

  • Cholesteryl Ester Storage Disease

  • Lal Deficiency

  • Lipa Deficiency

  • Cholesterol Ester Storage Disease

  • CESD

  • Cholesterol Ester Hydrolase Deficiency

  • Acid Lipase Deficiency

  • Acid Esterase Deficiency

  • Familial Xanthomatosis

  • Wolman Xanthomatosis

  • Wolman'S Disease

  • Wolman'S Or Triglyceride Storage Type Iii Disease

  • Xanthomatosis, Familial

  • Liposomal Acid Lipase Deficiency, Wolman Type

  • Familial Visceral Xanthomatosis

  • Primary Familial Xanthomatosis

  • Primary Familial Xanthomatosis With Adrenal Calcification

  • Acid Lipase Disease

  • WOD

  • Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Smith-Lemli-Opitz Syndrome
  • SLOS

  • Rsh Syndrome

  • 7-Dehydrocholesterol Reductase Deficiency

  • Slo Syndrome

  • Rutledge Lethal Multiple Congenital Anomaly Syndrome

  • Lethal Acrodysgenital Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

  • Smith-Opitz-Inborn Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

  • Smith Lemli Opitz Syndrome

  • Smith-Lemli-Opitz Syndrome, Type Ii

Atherosclerosis Susceptibility
  • Atherosclerosis

  • Atherosclerosis, Susceptibility To

  • ATHS

  • Atherogenic Lipoprotein Phenotype

  • Alp

  • Arteriosclerosis

Hyperalphalipoproteinemia 1
  • Hyperalphalipoproteinemia

  • HALP1

  • Cetp Deficiency

  • Cholesterol-Ester Transfer Protein Deficiency

  • Familial Hyperalphalipoproteinemia

  • Cholesteryl Ester Transfer Protein Deficiency

  • Cept Deficiency

  • Cholesterol Ester Transfer Protein Deficiency

Niemann-Pick Disease, Type C1
  • Niemann-Pick Disease, Type C

  • NPC1

  • Niemann-Pick Disease, Type D

  • Niemann-Pick Disease Type C1

  • Niemann-Pick Disease With Cholesterol Esterification Block

  • Niemann-Pick Disease, Subacute Juvenile Form

  • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

  • Npc

  • Niemann-Pick Disease, Chronic Neuronopathic Form

  • Niemann-Pick Disease Without Sphingomyelinase Deficiency

  • Niemann-Pick Disease Type C

  • Niemann-Pick Disease Type D

  • Niemann-Pick C1 Disease

  • Niemann-Pick Disease C1

  • Niemann-Pick Disease Chronic Neuronopathic Form

  • Niemann-Pick Disease Nova Scotian Type

  • Niemann-Pick Disease Subacute Juvenile Form

  • Niemann-Pick Disease Type Ii

  • Niemann-Picks Disease Type C

Pulmonary Alveolar Proteinosis
Xanthomatosis
  • Xanthomatosis, Susceptibility To

  • Xanthelasmatosis

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

Aortic Atherosclerosis
  • Atherosclerosis Of Aorta

  • Aorta Atheroma

  • Aorta Calcification

  • Aorta Arteriosclerosis

  • Aortic Degeneration

  • Aortic Calcification

  • Aortic Atheroma

  • Aortic Arteriosclerotic Disease

  • Aortic Arteriosclerosis

  • Aorta Sclerosis

  • Aorta Degeneration

  • Atheromatous Aortic

  • Calcified Aortic Stenosis

  • Atheromatous Aorta

  • Arteriosclerotic Aortitis

  • Arteriosclerotic Aortic Stenosis

  • Arteriosclerotic Aorta Disease

  • Aortic Sclerosis

Cardiovascular System Disease
  • Abnormality Of The Cardiovascular System

  • Cardiovascular Disease

  • Disease Of Subdivision Of Hemolymphoid System

  • Disorder Of Cardiovascular System

  • Cardiovascular Diseases

Familial Hypercholesterolemia
  • Hyperlipoproteinemia Type Iia

  • Familial Hyperbetalipoproteinaemia

  • Familial Hypercholesteremia

  • Fredrickson Type Iia Hyperlipoproteinemia

  • Fredrickson Type Iia Lipidaemia

  • Hyperbetalipoproteinemia

  • Type Ii Hyperlipidemia

  • Familial Hypercholesterolæmia

  • Familial Hypercholesterolaemia

  • Fh

  • Hypercholesterolemia Familial

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial

Splenomegaly
Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Anomaly

  • Coronary Artery Disease, Susceptibility To

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

Sitosterolemia
  • Phytosterolemia

  • Beta-Sitosterolemia

  • Plant Sterol Storage Disease

  • Phytosterolæmia

  • Sitosterolæmia

  • Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

  • Phytosterolaemia

  • Sitosterolaemia

  • Sitosterolemia With Xanthomatosis

Vascular Disease
  • Vascular Diseases

  • Aneurysm

  • Spinal Cord Ischemia

  • Vascular Anomaly

  • Spinal Cord Vascular Diseases

  • Vascular Tissue Disease

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

C Syndrome
  • Opitz Trigonocephaly Syndrome

  • Trigonocephaly

  • Trigonocephaly Syndrome

  • Trigonocephaly C Syndrome

  • Opitz C Trigonocephaly

  • Opitz Trigonocephaly C Syndrome

  • Otcs

  • CSYN

Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1

Polyneuropathy
  • Polyneuropathies

Lysosomal And Lipase Deficiency
Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Cholesterol Ester Storage Disease
Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Diabetes Mellitus
  • Diabetes

Ichthyosis, Congenital, Autosomal Recessive 4a
  • Ichthyosis Congenita Iib

  • Icr2b

  • Autosomal Recessive Congenital Ichthyosis 4a

  • ARCI4A

  • Lamellar Ichthyosis 2

  • Li2

  • Ichthyosis, Lamellar, 2, Formerly

  • Li2, Formerly

  • Ichthyosis Lamellar 2

  • Lamellar Ichthyosis, Type 2

  • Ichthyosis, Lamellar 2

  • Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Niemann-Pick Disease
  • Sphingomyelin/Cholesterol Lipidosis

  • Niemann-Pick Diseases

  • Lipoid Histiocytosis

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency Disease

  • Lipid Histiocytosis

  • Neuronal Cholesterol Lipidosis

  • Neuronal Lipidosis

  • Npd

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Type A

Glaucoma, Primary Open Angle
  • Glaucoma 1, Open Angle, E

  • Primary Open Angle Glaucoma

  • POAG

  • Adult-Onset Primary Open Angle Glaucoma

  • Chronic Simple Glaucoma

  • GLC1E

  • Primary Open Angle Glaucoma 1e

  • Glaucoma, Open Angle, Primary

Stargardt Disease
  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease

Autosomal Recessive Congenital Ichthyosis
  • Lamellar Ichthyosis

  • Congenital Ichthyosiform Erythroderma

  • Li

  • Congenital Nonbullous Ichthyosiform Erythroderma

  • Arci

  • Congenital Lamellar Ichthyosis

  • Nonbullous Congenital Ichthyosiform Erythroderma

  • Cie

  • Congenital Non-Bullous Ichthyosiform Erythroderma

  • Erythrodermic Ichthyosis

  • Nbcie

  • Ncie

  • Non-Bullous Congenital Ichthyosiform Erythroderma

  • Collodion Baby

  • Ichthyosis, Lamellar

  • Non Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

  • Collodion Baby Syndrome

  • Ichthyoses, Lamellar

  • Nbie

  • Nonbullous Ichthyosiform Erythroderma

  • Classic Lamellar Ichthyosis

  • Ichthyosiform Erythroderma Nonbullous Congenital

  • Ichthyosiform Erythroderma Congenital

  • Ichthyosis, Congenital, Autosomal Recessive

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Fetus

  • Non-Bullous Ichthyosiform Erythroderma

Stroke, Ischemic
  • Cerebral Infarction

  • Stroke

  • Ischemic Stroke

  • Cerebrovascular Accident

  • Cerebral Infarction, Susceptibility To

  • Stroke, Ischemic, Susceptibility To

  • Cerebral Infarct

  • Ischemic Stroke, Susceptibility To

  • Stroke, Susceptibility To

  • Cva - Cerebral Infarction

  • ISCHSTR

  • Ischemic Cerebrovascular Accident

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ABCA1 VGNC VGNC:69545
Felis catus ABCA1 VGNC VGNC:59461
Mus musculus ABCA1 MGD MGI:99607
Rattus norvegicus ABCA1 RGD RGD:631344
Canis familiaris ABCA1 VGNC VGNC:37422
Bos taurus ABCA1 VGNC VGNC:25455
Others ABCA1 NCBI