MCID: TNG002
MIFTS: 64

Tangier Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Tangier Disease

MalaCards integrated aliases for Tangier Disease:

Name: Tangier Disease 57 12 76 53 25 59 75 37 29 13 55 6 44 15 40 73
Analphalipoproteinemia 57 25 59 75
Familial High Density Lipoprotein Deficiency Disease 53 25
High Density Lipoprotein Deficiency, Tangier Type 57 53
Alpha High Density Lipoprotein Deficiency Disease 53 25
Familial High Density Lipoprotein Deficiency 12 6
High Density Lipoprotein Deficiency, Type 1 57 53
Hdl Lipoprotein Deficiency Disease 53 25
Familial Hypoalphalipoproteinemia 12 25
a-Alphalipoprotein Neuropathy 53 25
Cholesterol Thesaurismosis 53 25
Tangier Disease Neuropathy 25 73
Hdldt1 57 53
Tgd 57 75
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 59
High Density Lipoprotein Deficiency, Type 1; Hdldt1 57
Atp-Binding Cassette Transporter A1 Deficiency 59
Lipoprotein Deficiency Disease, Hdl, Familial 25
Familial Alpha-Lipoprotein Deficiency 12
High Density Lipoprotein Deficiency 1 75
Hypoalphalipoproteinemia, Familial 73
Familial Hypoalphalipo-Proteinemia 53
Tangier Hereditary Neuropathy 25
Tangier Disease, Variant 6
Familial Hdl Deficiency 73
Analphalipo-Proteinemia 53
Hdld1 75

Characteristics:

Orphanet epidemiological data:

59
tangier disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
tangier disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tangier Disease

Genetics Home Reference : 25 Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.

MalaCards based summary : Tangier Disease, also known as analphalipoproteinemia, is related to apo a-i deficiency and fish-eye disease, and has symptoms including dry skin An important gene associated with Tangier Disease is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are ABC transporters and Metabolism. The drugs Glyburide and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, tonsil and heart, and related phenotypes are corneal opacity and hypertriglyceridemia

OMIM : 57 Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants (Brooks-Wilson et al., 1999). (205400)

UniProtKB/Swiss-Prot : 75 High density lipoprotein deficiency 1: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.

NIH Rare Diseases : 53 Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) - the 'good cholesterol' - in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an autosomal recessive pattern.

Wikipedia : 76 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or hypoalphalipoproteinemia is a... more...

Related Diseases for Tangier Disease

Diseases related to Tangier Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 74, show less)
# Related Disease Score Top Affiliating Genes
1 apo a-i deficiency 30.7 APOA1 LCAT
2 fish-eye disease 30.5 APOA1 APOA2 LCAT
3 heart disease 28.4 ABCA1 APOA1 APOB APOE LPL
4 arteries, anomalies of 28.0 ABCA1 APOA1 APOB APOE CETP LPA
5 hypolipoproteinemia 27.6 ABCA1 APOA1 APOA2 APOB APOE LCAT
6 hypoalphalipoproteinemia, primary 27.6 ABCA1 APOA1 APOA2 APOB CETP LCAT
7 coronary heart disease 1 26.9 APOA1 APOA2 APOB APOE CETP LCAT
8 catel-manzke syndrome 11.3
9 sea-blue histiocyte disease 10.5 APOE LCAT
10 cerebral atherosclerosis 10.4 APOA1 APOE
11 amyloidosis aa 10.3 APOA1 LCAT LPA
12 hereditary amyloidosis 10.3 APOA1 APOA2
13 neuropathy 10.2
14 amyloidosis, familial visceral 10.2 APOA1 APOA2 LPA
15 xanthoma disseminatum 10.2 APOB APOE
16 hyperlipoproteinemia, type v 10.2 APOE LPL
17 hypercholesterolemia, autosomal dominant, type b 10.1 APOB APOE
18 syringomyelia 10.1
19 hepatic lipase deficiency 10.1 APOA1 APOE LPL
20 familial lcat deficiency 10.1 APOA1 APOA2 APOE LCAT
21 peripheral nervous system disease 10.1
22 recurrent acute pancreatitis 10.0 APOE LPL
23 vitamin e, familial isolated deficiency of 10.0 ABCA1 APOA1 APOB
24 fetal macrosomia 10.0 APOA1 APOB LCAT
25 defective apolipoprotein b-100 9.9 APOB APOE LCAT
26 mucositis 9.9
27 polyneuropathy 9.9
28 aortic atherosclerosis 9.9 ABCA1 APOE CETP LPA
29 schnyder corneal dystrophy 9.9 APOA2 APOB APOE
30 generalized atherosclerosis 9.8 APOE PLTP
31 peripheral vascular disease 9.8 APOA1 APOB LPA
32 dysbaric osteonecrosis 9.8 APOA1 APOB
33 inherited metabolic disorder 9.8 APOA1 APOB NPC1
34 werner syndrome 9.8
35 malaria 9.8
36 male infertility 9.8
37 peripheral artery disease 9.8
38 tonsillitis 9.8
39 pancreatitis 9.8
40 infertility 9.8
41 neuronitis 9.8
42 amyloid neuropathy 9.8
43 lewis-sumner syndrome 9.8
44 hyperlipidemia, combined, 1 9.8 APOB LPL
45 cerebrovascular disease 9.7 APOA1 APOB APOE
46 hypobetalipoproteinemia, familial, 1 9.7 APOA1 APOB APOE LCAT
47 homozygous familial hypercholesterolemia 9.6 APOB APOE LPL
48 coronary stenosis 9.6 APOA1 APOB APOE CETP
49 gallbladder disease 9.6 APOA1 APOB APOE CETP
50 carotid artery disease 9.5 APOA1 APOB APOE LPA
51 arteriosclerosis 9.5 APOA1 APOB APOE LPA
52 ischemic heart disease 9.4 APOA1 APOB APOE LPL
53 hypertriglyceridemia, familial 9.4 APOA1 APOB CETP LPL
54 leukodystrophy, hypomyelinating, 3 9.2 APOA1 APOA2 APOB APOE LPA
55 xanthomatosis 9.2 APOB APOE LPA LPL
56 lipoprotein glomerulopathy 9.2 APOA2 APOB APOE LCAT LPA
57 macular degeneration, age-related, 1 9.2 ABCA1 APOB APOE
58 hypertension, essential 9.2 APOA1 APOB LPA LPL
59 hyperlipoproteinemia, type iv 9.1 APOA1 APOA2 APOB APOE LPL
60 atherosclerosis susceptibility 8.9 ABCA1 APOA1 APOB APOE CETP LPA
61 abetalipoproteinemia 8.7 APOA1 APOB APOE CETP LCAT LPL
62 hyperlipidemia, familial combined 8.6 APOA1 APOA2 APOB APOE LPA LPL
63 hyperlipoproteinemia, type iii 8.6 APOA1 APOB APOE CETP LPA LPL
64 arcus corneae 8.5 APOA1 APOA2 APOB APOE CETP LCAT
65 myocardial infarction 8.5 ABCA1 APOA1 APOA2 APOB APOE CETP
66 vascular disease 8.3 ABCA1 APOA1 APOB APOE CETP LPA
67 familial hyperlipidemia 8.2 APOA1 APOB APOE CETP LCAT LPA
68 lipid metabolism disorder 8.2 APOA1 APOB APOE CETP LCAT LPA
69 lecithin:cholesterol acyltransferase deficiency 7.9 APOA1 APOA2 APOB APOE CETP LCAT
70 hypercholesterolemia, familial 7.6 ABCA1 APOA1 APOA2 APOB APOE CETP
71 coronary artery anomaly 7.6 ABCA1 APOA1 APOA2 APOB APOE CETP
72 body mass index quantitative trait locus 11 7.2 APOA1 APOA2 APOB APOE CETP LPA
73 hyperalphalipoproteinemia 1 7.1 ABCA1 APOA1 APOA2 APOB APOE CETP
74 diabetes mellitus, noninsulin-dependent 6.9 APOA1 APOA2 APOB APOE CETP LCAT

Graphical network of the top 20 diseases related to Tangier Disease:



Diseases related to Tangier Disease

Symptoms & Phenotypes for Tangier Disease

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Head And Neck Eyes:
visual impairment
corneal opacities
decreased corneal sensation due to peripheral neuropathy
cicatricial ectropion
incomplete eyelid closure
more
Skin Nails Hair Skin:
dry skin

Cardiovascular Vascular:
atherosclerosis
coronary artery disease, premature

Head And Neck Face:
facial diplegia due to peripheral neuropathy

Skin Nails Hair Hair:
distal loss of facial hair

Neurologic:
syringomyelia-like syndrome

Abdomen Liver:
hepatomegaly

Cardiovascular Heart:
myocardial infarction
left ventricular hypertrophy
heart disease, premature

Neurologic Peripheral Nervous System:
hyporeflexia
peripheral axonal neuropathy
pain and temperature sensation loss
nerve biopsy showed demyelination, remyelination, and deposition of fat droplets in axons

Skin Nails Hair Nails:
dystrophic nails

Head And Neck Mouth:
enlarged, yellow-orange tonsils

Muscle Soft Tissue:
distal muscle atrophy due to peripheral neuropathy

Laboratory Abnormalities:
decreased serum hdl cholesterol
decreased or absent apolipoprotein a-i
accumulation of cholesterol esters in various tissues
deficient efflux of intracellular cholesterol


Clinical features from OMIM:

205400

Human phenotypes related to Tangier Disease:

59 32 (showing 35, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
2 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
3 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
5 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
6 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
7 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
8 left ventricular hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001712
9 ectropion 59 32 frequent (33%) Frequent (79-30%) HP:0000656
10 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
11 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
12 hypocholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003146
13 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
14 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
15 carotid artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100546
16 accelerated atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0004943
17 chronic noninfectious lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002730
18 progressive peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007133
19 coronary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0005145
20 orange discoloured tonsils 59 32 frequent (33%) Frequent (79-30%) HP:0030814
21 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
22 impaired thermal sensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0006901
23 splenomegaly 32 HP:0001744
24 hepatomegaly 32 HP:0002240
25 visual impairment 32 HP:0000505
26 myocardial infarction 32 HP:0001658
27 opacification of the corneal stroma 32 HP:0007759
28 impaired pain sensation 32 HP:0007328
29 hyporeflexia 32 HP:0001265
30 nail dysplasia 32 HP:0002164
31 peripheral demyelination 32 HP:0011096
32 distal amyotrophy 32 HP:0003693
33 impaired temperature sensation 32 HP:0010829
34 coronary artery atherosclerosis 32 HP:0001677
35 decreased hdl cholesterol concentration 32 HP:0003233

UMLS symptoms related to Tangier Disease:


dry skin

GenomeRNAi Phenotypes related to Tangier Disease according to GeneCards Suite gene sharing:

26 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.61 ABCA1 APOA1 APOB APOE CETP LPA
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Tangier Disease:

46 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 ABCA1 APOA1 APOB APOE LCAT LPL
2 cellular MP:0005384 9.81 ABCG1 APOA1 APOB APOE LPL NPC1
3 homeostasis/metabolism MP:0005376 9.65 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 liver/biliary system MP:0005370 9.23 ABCA1 ABCG1 APOA1 APOB APOE LCAT

Drugs & Therapeutics for Tangier Disease

Drugs for Tangier Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 4, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4 10238-21-8 3488
2 Hypoglycemic Agents Phase 4
3
Adenosine Approved, Investigational Not Applicable 58-61-7 60961
4 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:

(showing 6, show less)
# Name Status NCT ID Phase Drugs
1 R230C and C230C Variants of ABCA1 and Glyburide Response Completed NCT01456650 Phase 4 Glyburide
2 Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese Children Completed NCT01886495 Phase 3
3 Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese Children Completed NCT01886482 Phase 3
4 High Protein Weight Loss Diet, High Sensitivity C-Reactive Protein and Cardiovascular Risks Among Obese Women Completed NCT01763528 Phase 3
5 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
6 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 Not Applicable 3H-cholesterol bound to albumin

Search NIH Clinical Center for Tangier Disease

Cochrane evidence based reviews: tangier disease

Genetic Tests for Tangier Disease

Genetic tests related to Tangier Disease:

# Genetic test Affiliating Genes
1 Tangier Disease 29 ABCA1

Anatomical Context for Tangier Disease

MalaCards organs/tissues related to Tangier Disease:

41
Liver, Tonsil, Heart, Lymph Node, Spleen, Skin, Testes

Publications for Tangier Disease

Articles related to Tangier Disease:

(showing 203, show less)
# Title Authors Year
1
Unusual yellow scaly colonic mucosal appearance: Tangier disease. ( 29352969 )
2018
2
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved. ( 29198592 )
2018
3
Peripheral neuropathy in Tangier disease: A literature review and assessment. ( 29582519 )
2018
4
Accelerated Atherogenicity in Tangier Disease. ( 29563393 )
2018
5
Clinical utility gene card for: Tangier disease. ( 28537273 )
2017
6
The iPSC Awakens ANGPTL3 in Tangier Disease. ( 28392245 )
2017
7
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. ( 26616730 )
2016
8
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. ( 27853448 )
2016
9
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. ( 25875382 )
2015
10
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. ( 26479764 )
2015
11
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. ( 25227739 )
2014
12
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. ( 25308558 )
2014
13
Tangier disease in a Turkish family. ( 25335997 )
2014
14
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. ( 23351586 )
2013
15
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. ( 24196952 )
2013
16
Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 )
2013
17
Tangier disease: epidemiology, pathophysiology, and management. ( 22913675 )
2012
18
Platelet activating factor levels and metabolism in Tangier disease: a case study. ( 22769014 )
2012
19
Recurrent lobar intracerebral hemorrhage in Tangier disease. ( 22133743 )
2012
20
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. ( 23430904 )
2012
21
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. ( 22179783 )
2012
22
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
23
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. ( 21844573 )
2011
24
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. ( 21763656 )
2011
25
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. ( 21860089 )
2011
26
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. ( 19765707 )
2010
27
Tangier disease phenotype diversity in dizygous twin sisters. ( 20070997 )
2010
28
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. ( 20093111 )
2010
29
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. ( 19344898 )
2009
30
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. ( 19208541 )
2009
31
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. ( 19723515 )
2009
32
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. ( 19556721 )
2009
33
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. ( 19470903 )
2009
34
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. ( 18374163 )
2008
35
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. ( 17560579 )
2008
36
Lewis-Sumner syndrome and Tangier disease. ( 18625867 )
2008
37
Severe Tangier disease with a novel ABCA1 gene mutation. ( 18955690 )
2008
38
An unusual presentation of Tangier disease with gallbladder involvement. ( 19317282 )
2008
39
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. ( 18787473 )
2008
40
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. ( 17434146 )
2007
41
Gastric mucosa appearance in a patient with Tangier disease. ( 17094727 )
2006
42
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. ( 16678735 )
2006
43
Tangier disease four decades of research: a reflection of the importance of HDL. ( 16611066 )
2006
44
Tangier disease: still more questions than answers. ( 16235041 )
2005
45
HDL deficiency and atherosclerosis: lessons from Tangier disease. ( 14746569 )
2004
46
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). ( 15163665 )
2004
47
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. ( 14747463 )
2004
48
Tangier disease. ( 15314143 )
2004
49
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. ( 15502486 )
2004
50
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. ( 15384103 )
2004
51
Tangier disease--a diagnostic challenge in countries endemic for leprosy. ( 14742612 )
2004
52
The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway. ( 15001567 )
2004
53
Tonsil with Tangier disease. ( 12696235 )
2003
54
Tangier disease with unusual clinical manifestations. ( 12702168 )
2003
55
Falciparum malaria and Tangier disease. ( 12718813 )
2003
56
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G&amp;gt;C mutation in ABCA1 gene. ( 12576507 )
2003
57
Postprandial hypertriglyceridaemia in patients with Tangier disease. ( 14645354 )
2003
58
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. ( 12615648 )
2003
59
Coronary artery bypass grafting for a patient with Tangier disease. ( 12382407 )
2002
60
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. ( 11927274 )
2002
61
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. ( 12111371 )
2002
62
Double deletions and missense mutations in the first nucleotide- binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease. ( 12111381 )
2002
63
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. ( 11257260 )
2001
64
Cholesterol and apolipoprotein B metabolism in Tangier disease. ( 11689226 )
2001
65
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. ( 11181755 )
2001
66
Accumulation of cardiolipin and lysocardiolipin in fibroblasts from Tangier disease subjects. ( 11445077 )
2001
67
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. ( 11476965 )
2001
68
Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. ( 11369017 )
2001
69
Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. ( 11350058 )
2001
70
Accumulation of RhoA, RhoB, RhoG, and Rac1 in fibroblasts from Tangier disease subjects suggests a regulatory role of Rho family proteins in cholesterol efflux. ( 11162504 )
2001
71
Novel approaches to treating cardiovascular disease: lessons from Tangier disease. ( 11227043 )
2001
72
Tangier disease as a test of the reverse cholesterol transport hypothesis. ( 11086021 )
2000
73
Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size. ( 10884295 )
2000
74
Decreased expression of a member of the Rho GTPase family, Cdc42Hs, in cells from Tangier disease - the small G protein may play a role in cholesterol efflux. ( 11078892 )
2000
75
Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. ( 10655069 )
2000
76
Tangier disease and ABCA1. ( 11111099 )
2000
77
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. ( 10787172 )
2000
78
Interferon-gamma induces downregulation of Tangier disease gene (ATP-binding-cassette transporter 1) in macrophage-derived foam cells. ( 10845873 )
2000
79
ABC1: the gene for Tangier disease and beyond. ( 10812922 )
2000
80
The Tangier disease gene encodes yet another pathophysiologically relevant atp-binding cassette protein. ( 10655285 )
2000
81
Cholesterol efflux from normal and Tangier disease fibroblasts into normal, high-density lipoprotein-deficient, and apolipoprotein E-deficient plasmas. ( 10877205 )
2000
82
Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. ( 10706591 )
2000
83
Tangier disease with continuous massive and longitudinal diffuse calcification in the coronary arteries : demonstration by the sagittal images of intravascular ultrasonography. ( 10821824 )
2000
84
Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. ( 9888863 )
1999
85
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. ( 10431237 )
1999
86
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. ( 10431236 )
1999
87
Reduction in apolipoprotein-mediated removal of cellular lipids by immortalization of human fibroblasts and its reversion by cAMP: lack of effect with Tangier disease cells. ( 10508196 )
1999
88
Tangier disease is caused by mutations in the gene encoding ATP- binding cassette transporter 1. ( 10431238 )
1999
89
Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. ( 10535983 )
1999
90
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. ( 10525055 )
1999
91
Decreased cholesterol efflux from fibroblasts of a patient without Tangier disease, but with markedly reduced high density lipoprotein cholesterol levels. ( 9506737 )
1998
92
Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. ( 9678768 )
1998
93
Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I. ( 9610765 )
1998
94
Digestive tract involvement in an infant and a child with Tangier disease. ( 9702662 )
1998
95
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. ( 9731541 )
1998
96
Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux. ( 9327782 )
1997
97
Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. ( 8941649 )
1996
98
The pathology of cornea in Tangier disease (familial high density lipoprotein deficiency). ( 8707957 )
1996
99
Tangier disease. ( 8694332 )
1996
100
HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. ( 7749882 )
1995
101
Generation of pre-beta 1-HDL and conversion into alpha-HDL. Evidence for disturbed HDL conversion in Tangier disease. ( 7583552 )
1995
102
Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. ( 7615839 )
1995
103
Severe aortic stenosis and atherosclerosis in a young man with Tangier disease. ( 8184829 )
1994
104
Colonic mucosal appearance of Tangier disease in a new patient. ( 7988831 )
1994
105
[Tangier disease]. ( 7853716 )
1994
106
The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. ( 7999122 )
1994
107
Homozygous Tangier disease and cardiovascular disease. ( 7945562 )
1994
108
Tangier disease: an unusual diagnosis for the endoscopist. ( 8076579 )
1994
109
Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux. ( 8432861 )
1993
110
Tangier disease: isolation and characterization of LpA-I, LpA-II, LpA-I: A-II and LpA-IV particles from plasma. ( 8347683 )
1993
111
Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis. ( 8348751 )
1993
112
The heart in Tangier disease. Severe coronary atherosclerosis with near absence of high-density lipoprotein cholesterol. ( 1380771 )
1992
113
Aortic features in Tangier disease and pathogenetic considerations--Part I. Fatty dots and streaks. ( 1380464 )
1992
114
A discrepancy between in vivo and in vitro lipoprotein lipase activity in a patient with Tangier disease. ( 1769125 )
1991
115
Characterization of metalloelastase-like activity from the plasma of a patient with Tangier disease. ( 1789930 )
1991
116
Isolation and characterization of an apoA-II-containing lipoprotein (LP-A-II:B complex) from plasma very low density lipoproteins of patients with Tangier disease and type V hyperlipoproteinemia. ( 1901345 )
1991
117
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. ( 1802966 )
1991
118
Abnormal processing of Golgi elements and lysosomes in Tangier disease. ( 2065025 )
1991
119
The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas. ( 2226526 )
1990
120
Tangier disease: central nervous system impairment in a case of syringomyelia-like syndrome. ( 2243232 )
1990
121
Tangier disease in a black patient: an unusual clinical presentation. ( 2164324 )
1990
122
Conformation of apolipoprotein B-100 in the low density lipoproteins of tangier disease. Identification of localized conformational response to triglyceride content. ( 1701170 )
1990
123
Evaluation of the particle size distribution of plasma lipoprotein in a patient with Tangier disease by high performance liquid chromatography. ( 2073749 )
1990
124
Absence of &amp;quot;A&amp;quot;-esterase activity in the serum of a patient with Tangier disease. ( 2558814 )
1989
125
Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell. ( 2757970 )
1989
126
Lecithin:cholesterol acyltransferase in familial HDL deficiency (Tangier disease). ( 3122840 )
1988
127
Familial high-density lipoprotein deficiency (Tangier disease): the third Italian case. ( 3141697 )
1988
128
Apolipoprotein A-I: deficiency in Tangier disease. ( 3146917 )
1988
129
Cardiac valvular involvement in Tangier disease. ( 3799433 )
1987
130
Ocular complications of Tangier disease. ( 3314502 )
1987
131
Plasma apolipoproteins in Tangier disease, as studied with two-dimensional electrophoresis. ( 3100093 )
1987
132
Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease. ( 3677505 )
1987
133
Studies on the mechanism of hypertriglyceridemia in Tangier disease. Determination of plasma lipolytic activities, k1 values and apolipoprotein composition of the major lipoprotein density classes. ( 3109493 )
1987
134
A method to screen apolipoprotein polymorphisms in whole plasma: description of apolipoprotein A-IV variants in dyslipidemias and a reassessment of apolipoprotein A-I in Tangier disease. ( 3105587 )
1987
135
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. ( 3425387 )
1987
136
Abnormalities in spinal neurons and dorsal root ganglion cells in Tangier disease presenting with a syringomyelia-like syndrome. ( 3625234 )
1987
137
In vivo metabolism of proapolipoprotein A-I in Tangier disease. ( 3119665 )
1987
138
Apoprotein A-I and lecithin: cholesterol acyltransferase in a patient with Tangier disease. ( 3099551 )
1986
139
Bile lipids, platelet aggregability and pro-ApoAI processing in 2 cases of Tangier disease. ( 3736556 )
1986
140
Erythrocyte membrane alterations and plasma lipids in patients with chylomicronemia and in Tangier disease. ( 3019588 )
1986
141
Immunochemical study of the plasma low and high density lipoproteins in Tangier disease. ( 3086124 )
1986
142
Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum. ( 2992211 )
1985
143
Tangier disease: a disorder of intracellular membrane traffic. ( 2994070 )
1985
144
Urinary proteins in a patient with Tangier disease. ( 3926343 )
1985
145
Tangier disease. The complete mRNA sequence encoding for preproapo-A- I. ( 2995392 )
1985
146
[Tangier disease. A rare thesaurismosis]. ( 3158991 )
1985
147
Tangier disease. A histological and ultrastructural study. ( 4070073 )
1985
148
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. ( 4082916 )
1985
149
The degradation of platelet-activating factor in the plasma of a patient with familial high density lipoprotein deficiency (Tangier disease). ( 4063532 )
1985
150
The use of reversed-phase high-performance liquid chromatography to analyse the cholesterol ester profiles present in lipoproteins of patients exhibiting hyperalphalipoproteinaemia or hypoalphalipoproteinaemia (Tangier disease). ( 3934204 )
1985
151
Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies. ( 2997405 )
1985
152
Tangier disease apolipoprotein A-I compared with normal plasma A-I using monoclonal antibodies. ( 2408675 )
1985
153
Tangier disease. In vitro conversion of proapo-A-ITangier to mature APO-A-ITangier. ( 6725246 )
1984
154
Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies. ( 6152683 )
1984
155
Japanese adult siblings with Tangier disease and statistical analysis of reported cases. ( 6443624 )
1984
156
Bile lipid composition and haemostatic variables in a case of high density lipoprotein deficiency (Tangier disease). ( 6421598 )
1984
157
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. ( 6428166 )
1984
158
Peripheral neuropathy in Tangier disease. ( 6317140 )
1983
159
Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins. ( 6412234 )
1983
160
Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. ( 6614036 )
1983
161
Tangier disease with oral abnormalities. ( 6409822 )
1983
162
Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease. ( 7068673 )
1982
163
Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier). ( 6806810 )
1982
164
Morphology and cytometry of sural nerve in Tangier disease. ( 7183919 )
1982
165
Tangier disease with normal serum cholesterol. ( 6960872 )
1982
166
Tangier disease. High density lipoprotein deficiency due to defective metabolism of an abnormal apolipoprotein A-i (ApoA-ITangier). ( 7130397 )
1982
167
Tangier disease: heterozygote detection and linkage analysis. ( 6951800 )
1982
168
Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease). ( 6790903 )
1981
169
Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins. ( 6787156 )
1981
170
The splanchnic autonomic outflow in amyloid neuropathy and Tangier disease. ( 7194438 )
1981
171
Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease). ( 7406376 )
1980
172
Prenatal detection of Tangier disease. ( 90856 )
1979
173
Charge-shift electrophoresis of apolipoproteins from normal humans and patients with Tangier disease. ( 216585 )
1979
174
Ocular manifestations of familial high-density lipoprotein deficiency (Tangier disease). ( 226043 )
1979
175
The metabolic defect in Tangier Disease. ( 215911 )
1979
176
Abnormal concentration and anomalous distribution of apolipoprotein A-I in Tangier disease. ( 622047 )
1978
177
High density lipoprotein infusion and partial plasma exchange in Tangier disease. ( 211037 )
1978
178
The role of high density lipoproteins in lecithin:cholesterol acyltransferase activity: perspectives from Tangier disease. ( 218282 )
1978
179
Apoprotein A metabolism in Tangier disease. ( 213084 )
1978
180
Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration. ( 75948 )
1978
181
Apoprotein A-I synthesis in normal intestinal mucosa and in Tangier disease. ( 213720 )
1978
182
Tangier disease: one explanation of lipid storage. ( 210378 )
1978
183
Metabolism of high-density lipoprotein apolipoproteins in Tangier disease. ( 211412 )
1978
184
Properties of the plasma very low and low density lipoproteins in Tangier disease. ( 201668 )
1978
185
The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. ( 190272 )
1977
186
Characterization of high density lipoproteins in patients heterozygous for Tangier disease. ( 198431 )
1977
187
Tangier disease (alpha-lipoprotein deficiency). ( 195100 )
1977
188
The storage lipids in Tangier disease. A physical chemical study. ( 193870 )
1977
189
The pathology of Tangier disease. A light and electron microscopic study. ( 162820 )
1975
190
Tangier disease. ( 170484 )
1975
191
Tangier disease. ( 4373121 )
1974
192
Lipoproteins and lipolytic plasma enzymes in a case of tangier disease. ( 4368872 )
1974
193
Nerve biopsy findings in two cases of Tangier disease. ( 4359503 )
1973
194
Peripheral nerve involvement in Tangier disease. ( 4361778 )
1973
195
Tangier disease. Report of a case and studies of lipid metabolism. ( 5058794 )
1972
196
Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein. ( 4341435 )
1972
197
Pathology of Tangier disease. ( 5118827 )
1971
198
Red-cell lipids in familial alphalipoprotein deficiency (Tangier disease). ( 4173269 )
1968
199
Cutaneous cholesterol ester deposition in Tangier disease. ( 6018991 )
1967
200
Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. ( 4165386 )
1967
201
Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities. ( 4165172 )
1967
202
Tangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults. ( 5831900 )
1965
203
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). ( 14162531 )
1964

Variations for Tangier Disease

UniProtKB/Swiss-Prot genetic disease variations for Tangier Disease:

75 (showing 26, show less)
# Symbol AA change Variation ID SNP ID
1 ABCA1 p.Arg587Trp VAR_009146 rs2853574
2 ABCA1 p.Trp590Ser VAR_009147 rs137854496
3 ABCA1 p.Gln597Arg VAR_009148 rs2853578
4 ABCA1 p.Asn935Ser VAR_009150 rs28937313
5 ABCA1 p.Ala937Val VAR_009151 rs137854495
6 ABCA1 p.Asp1289Asn VAR_009152 rs137854500
7 ABCA1 p.Cys1477Arg VAR_009153 rs137854494
8 ABCA1 p.Ile1517Arg VAR_009154
9 ABCA1 p.Asn1800His VAR_009155 rs146292819
10 ABCA1 p.Ala255Thr VAR_012620 rs758100110
11 ABCA1 p.Thr929Ile VAR_012626
12 ABCA1 p.Ala1046Asp VAR_012627 rs141021096
13 ABCA1 p.Ser1506Leu VAR_012630 rs137854497
14 ABCA1 p.Arg2081Trp VAR_012635 rs137854501
15 ABCA1 p.Asn935His VAR_037968 rs28937314
16 ABCA1 p.Arg1680Trp VAR_037970 rs137854498
17 ABCA1 p.Glu284Lys VAR_062482
18 ABCA1 p.Tyr482Cys VAR_062485
19 ABCA1 p.Trp590Leu VAR_062487 rs137854496
20 ABCA1 p.Trp840Arg VAR_062491
21 ABCA1 p.Arg1068Cys VAR_062493 rs745593394
22 ABCA1 p.Leu1379Phe VAR_062497
23 ABCA1 p.Val1704Asp VAR_062501
24 ABCA1 p.Arg1851Gln VAR_062502 rs1055285452High
25 ABCA1 p.Arg1901Ser VAR_062504
26 ABCA1 p.Gln2196His VAR_062507 rs564764153

ClinVar genetic disease variations for Tangier Disease:

6
(showing 391, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA1 NM_005502.3(ABCA1): c.4429T> C (p.Cys1477Arg) single nucleotide variant Pathogenic rs137854494 GRCh37 Chromosome 9, 107568557: 107568557
2 ABCA1 NM_005502.3(ABCA1): c.4429T> C (p.Cys1477Arg) single nucleotide variant Pathogenic rs137854494 GRCh38 Chromosome 9, 104806276: 104806276
3 ABCA1 NM_005502.3(ABCA1): c.3738+1G> C single nucleotide variant Pathogenic rs796051872 GRCh37 Chromosome 9, 107578423: 107578423
4 ABCA1 NM_005502.3(ABCA1): c.3738+1G> C single nucleotide variant Pathogenic rs796051872 GRCh38 Chromosome 9, 104816142: 104816142
5 ABCA1 NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg) single nucleotide variant Pathogenic rs2853578 GRCh37 Chromosome 9, 107593308: 107593308
6 ABCA1 NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg) single nucleotide variant Pathogenic rs2853578 GRCh38 Chromosome 9, 104831027: 104831027
7 ABCA1 NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh37 Chromosome 9, 107593274: 107593274
8 ABCA1 NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh38 Chromosome 9, 104830993: 104830993
9 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh37 Chromosome 9, 107584801: 107584801
10 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh38 Chromosome 9, 104822520: 104822520
11 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh37 Chromosome 9, 107584795: 107584795
12 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh38 Chromosome 9, 104822514: 104822514
13 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh38 Chromosome 9, 104831740: 104831753
14 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh37 Chromosome 9, 107594021: 107594034
15 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh37 Chromosome 9, 107581062: 107581063
16 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh38 Chromosome 9, 104818781: 104818782
17 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh37 Chromosome 9, 107549221: 107549221
18 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh38 Chromosome 9, 104786940: 104786940
19 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic GRCh37 Chromosome 9, 107584880: 107584880
20 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic GRCh38 Chromosome 9, 104822599: 104822599
21 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh37 Chromosome 9, 107566949: 107566949
22 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh38 Chromosome 9, 104804668: 104804668
23 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh37 Chromosome 9, 107584802: 107584802
24 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh38 Chromosome 9, 104822521: 104822521
25 ABCA1 NG_007981.1 indel Pathogenic
26 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh37 Chromosome 9, 107560785: 107560785
27 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh38 Chromosome 9, 104798504: 104798504
28 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh37 Chromosome 9, 107576435: 107576435
29 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh38 Chromosome 9, 104814154: 104814154
30 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh37 Chromosome 9, 107593379: 107593379
31 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh38 Chromosome 9, 104831098: 104831098
32 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh37 Chromosome 11, 116707850: 116707850
33 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh38 Chromosome 11, 116837134: 116837134
34 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh37 Chromosome 9, 107543284: 107543284
35 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh38 Chromosome 9, 104781003: 104781003
36 ABCA1 NM_005502.3(ABCA1): c.*3254T> C single nucleotide variant Likely benign rs79840023 GRCh37 Chromosome 9, 107543342: 107543342
37 ABCA1 NM_005502.3(ABCA1): c.*3254T> C single nucleotide variant Likely benign rs79840023 GRCh38 Chromosome 9, 104781061: 104781061
38 ABCA1 NM_005502.3(ABCA1): c.*3087C> T single nucleotide variant Likely benign rs190539368 GRCh37 Chromosome 9, 107543509: 107543509
39 ABCA1 NM_005502.3(ABCA1): c.*3087C> T single nucleotide variant Likely benign rs190539368 GRCh38 Chromosome 9, 104781228: 104781228
40 ABCA1 NM_005502.3(ABCA1): c.*3029A> G single nucleotide variant Likely benign rs181614282 GRCh37 Chromosome 9, 107543567: 107543567
41 ABCA1 NM_005502.3(ABCA1): c.*3029A> G single nucleotide variant Likely benign rs181614282 GRCh38 Chromosome 9, 104781286: 104781286
42 ABCA1 NM_005502.3(ABCA1): c.*2705G> A single nucleotide variant Likely benign rs75141626 GRCh37 Chromosome 9, 107543891: 107543891
43 ABCA1 NM_005502.3(ABCA1): c.*2705G> A single nucleotide variant Likely benign rs75141626 GRCh38 Chromosome 9, 104781610: 104781610
44 ABCA1 NM_005502.3(ABCA1): c.*1911C> T single nucleotide variant Benign rs4149340 GRCh38 Chromosome 9, 104782404: 104782404
45 ABCA1 NM_005502.3(ABCA1): c.*1911C> T single nucleotide variant Benign rs4149340 GRCh37 Chromosome 9, 107544685: 107544685
46 ABCA1 NM_005502.3(ABCA1): c.*1896G> A single nucleotide variant Benign rs363717 GRCh37 Chromosome 9, 107544700: 107544700
47 ABCA1 NM_005502.3(ABCA1): c.*1896G> A single nucleotide variant Benign rs363717 GRCh38 Chromosome 9, 104782419: 104782419
48 ABCA1 NM_005502.3(ABCA1): c.*1657C> T single nucleotide variant Uncertain significance rs886063296 GRCh37 Chromosome 9, 107544939: 107544939
49 ABCA1 NM_005502.3(ABCA1): c.*1657C> T single nucleotide variant Uncertain significance rs886063296 GRCh38 Chromosome 9, 104782658: 104782658
50 ABCA1 NM_005502.3(ABCA1): c.*1327G> A single nucleotide variant Likely benign rs202165873 GRCh37 Chromosome 9, 107545269: 107545269
51 ABCA1 NM_005502.3(ABCA1): c.*1327G> A single nucleotide variant Likely benign rs202165873 GRCh38 Chromosome 9, 104782988: 104782988
52 ABCA1 NM_005502.3(ABCA1): c.*1260C> G single nucleotide variant Likely benign rs148609447 GRCh37 Chromosome 9, 107545336: 107545336
53 ABCA1 NM_005502.3(ABCA1): c.*1260C> G single nucleotide variant Likely benign rs148609447 GRCh38 Chromosome 9, 104783055: 104783055
54 ABCA1 NM_005502.3(ABCA1): c.*1218A> G single nucleotide variant Likely benign rs528656411 GRCh37 Chromosome 9, 107545378: 107545378
55 ABCA1 NM_005502.3(ABCA1): c.*1218A> G single nucleotide variant Likely benign rs528656411 GRCh38 Chromosome 9, 104783097: 104783097
56 ABCA1 NM_005502.3(ABCA1): c.*1211G> A single nucleotide variant Likely benign rs547220092 GRCh37 Chromosome 9, 107545385: 107545385
57 ABCA1 NM_005502.3(ABCA1): c.*1211G> A single nucleotide variant Likely benign rs547220092 GRCh38 Chromosome 9, 104783104: 104783104
58 ABCA1 NM_005502.3(ABCA1): c.*1204A> T single nucleotide variant Uncertain significance rs886063299 GRCh37 Chromosome 9, 107545392: 107545392
59 ABCA1 NM_005502.3(ABCA1): c.*1204A> T single nucleotide variant Uncertain significance rs886063299 GRCh38 Chromosome 9, 104783111: 104783111
60 ABCA1 NM_005502.3(ABCA1): c.*677A> G single nucleotide variant Uncertain significance rs886063301 GRCh37 Chromosome 9, 107545919: 107545919
61 ABCA1 NM_005502.3(ABCA1): c.*677A> G single nucleotide variant Uncertain significance rs886063301 GRCh38 Chromosome 9, 104783638: 104783638
62 ABCA1 NM_005502.3(ABCA1): c.*395T> A single nucleotide variant Benign rs73517870 GRCh37 Chromosome 9, 107546201: 107546201
63 ABCA1 NM_005502.3(ABCA1): c.*395T> A single nucleotide variant Benign rs73517870 GRCh38 Chromosome 9, 104783920: 104783920
64 ABCA1 NM_005502.3(ABCA1): c.*368A> G single nucleotide variant Uncertain significance rs13306080 GRCh37 Chromosome 9, 107546228: 107546228
65 ABCA1 NM_005502.3(ABCA1): c.*368A> G single nucleotide variant Uncertain significance rs13306080 GRCh38 Chromosome 9, 104783947: 104783947
66 ABCA1 NM_005502.3(ABCA1): c.*337C> T single nucleotide variant Likely benign rs569460168 GRCh37 Chromosome 9, 107546259: 107546259
67 ABCA1 NM_005502.3(ABCA1): c.*337C> T single nucleotide variant Likely benign rs569460168 GRCh38 Chromosome 9, 104783978: 104783978
68 ABCA1 NM_005502.3(ABCA1): c.*16delC deletion Likely benign rs762785983 GRCh38 Chromosome 9, 104784299: 104784299
69 ABCA1 NM_005502.3(ABCA1): c.*16delC deletion Likely benign rs762785983 GRCh37 Chromosome 9, 107546580: 107546580
70 ABCA1 NM_005502.3(ABCA1): c.6183C> T (p.Gly2061=) single nucleotide variant Benign rs9282537 GRCh37 Chromosome 9, 107550222: 107550222
71 ABCA1 NM_005502.3(ABCA1): c.6183C> T (p.Gly2061=) single nucleotide variant Benign rs9282537 GRCh38 Chromosome 9, 104787941: 104787941
72 ABCA1 NM_005502.3(ABCA1): c.6109T> A (p.Tyr2037Asn) single nucleotide variant Uncertain significance rs886063305 GRCh37 Chromosome 9, 107550296: 107550296
73 ABCA1 NM_005502.3(ABCA1): c.6109T> A (p.Tyr2037Asn) single nucleotide variant Uncertain significance rs886063305 GRCh38 Chromosome 9, 104788015: 104788015
74 ABCA1 NM_005502.3(ABCA1): c.5870A> C (p.Lys1957Thr) single nucleotide variant Uncertain significance rs759114091 GRCh37 Chromosome 9, 107553260: 107553260
75 ABCA1 NM_005502.3(ABCA1): c.5870A> C (p.Lys1957Thr) single nucleotide variant Uncertain significance rs759114091 GRCh38 Chromosome 9, 104790979: 104790979
76 ABCA1 NM_005502.3(ABCA1): c.4440G> T (p.Gly1480=) single nucleotide variant Benign rs41494750 GRCh37 Chromosome 9, 107568546: 107568546
77 ABCA1 NM_005502.3(ABCA1): c.4440G> T (p.Gly1480=) single nucleotide variant Benign rs41494750 GRCh38 Chromosome 9, 104806265: 104806265
78 ABCA1 NM_005502.3(ABCA1): c.4195A> T (p.Thr1399Ser) single nucleotide variant Likely benign rs538614702 GRCh37 Chromosome 9, 107571826: 107571826
79 ABCA1 NM_005502.3(ABCA1): c.4195A> T (p.Thr1399Ser) single nucleotide variant Likely benign rs538614702 GRCh38 Chromosome 9, 104809545: 104809545
80 ABCA1 NM_005502.3(ABCA1): c.3544G> A (p.Ala1182Thr) single nucleotide variant Likely benign rs143180998 GRCh37 Chromosome 9, 107578618: 107578618
81 ABCA1 NM_005502.3(ABCA1): c.3544G> A (p.Ala1182Thr) single nucleotide variant Likely benign rs143180998 GRCh38 Chromosome 9, 104816337: 104816337
82 ABCA1 NM_005502.3(ABCA1): c.2988C> G (p.Phe996Leu) single nucleotide variant Uncertain significance rs886063310 GRCh37 Chromosome 9, 107582323: 107582323
83 ABCA1 NM_005502.3(ABCA1): c.2988C> G (p.Phe996Leu) single nucleotide variant Uncertain significance rs886063310 GRCh38 Chromosome 9, 104820042: 104820042
84 ABCA1 NM_005502.3(ABCA1): c.948G> A (p.Gly316=) single nucleotide variant Benign rs2246841 GRCh37 Chromosome 9, 107602666: 107602666
85 ABCA1 NM_005502.3(ABCA1): c.948G> A (p.Gly316=) single nucleotide variant Benign rs2246841 GRCh38 Chromosome 9, 104840385: 104840385
86 ABCA1 NM_005502.3(ABCA1): c.936C> T (p.Pro312=) single nucleotide variant Benign rs2274873 GRCh37 Chromosome 9, 107602678: 107602678
87 ABCA1 NM_005502.3(ABCA1): c.936C> T (p.Pro312=) single nucleotide variant Benign rs2274873 GRCh38 Chromosome 9, 104840397: 104840397
88 ABCA1 NM_005502.3(ABCA1): c.720+6T> C single nucleotide variant Likely benign rs188308962 GRCh37 Chromosome 9, 107620797: 107620797
89 ABCA1 NM_005502.3(ABCA1): c.720+6T> C single nucleotide variant Likely benign rs188308962 GRCh38 Chromosome 9, 104858516: 104858516
90 ABCA1 NM_005502.3(ABCA1): c.360C> T (p.Thr120=) single nucleotide variant Uncertain significance rs771661583 GRCh38 Chromosome 9, 104883100: 104883100
91 ABCA1 NM_005502.3(ABCA1): c.360C> T (p.Thr120=) single nucleotide variant Uncertain significance rs771661583 GRCh37 Chromosome 9, 107645381: 107645381
92 ABCA1 NM_005502.3(ABCA1): c.254C> T (p.Pro85Leu) single nucleotide variant Likely benign rs145183203 GRCh38 Chromosome 9, 104884475: 104884475
93 ABCA1 NM_005502.3(ABCA1): c.254C> T (p.Pro85Leu) single nucleotide variant Likely benign rs145183203 GRCh37 Chromosome 9, 107646756: 107646756
94 ABCA1 NM_005502.3(ABCA1): c.-18G> C single nucleotide variant Benign rs1800978 GRCh37 Chromosome 9, 107665978: 107665978
95 ABCA1 NM_005502.3(ABCA1): c.-18G> C single nucleotide variant Benign rs1800978 GRCh38 Chromosome 9, 104903697: 104903697
96 ABCA1 NM_005502.3(ABCA1): c.-139T> C single nucleotide variant Uncertain significance rs192053696 GRCh37 Chromosome 9, 107690262: 107690262
97 ABCA1 NM_005502.3(ABCA1): c.-139T> C single nucleotide variant Uncertain significance rs192053696 GRCh38 Chromosome 9, 104927981: 104927981
98 ABCA1 NM_005502.3(ABCA1): c.*3220A> G single nucleotide variant Likely benign rs10991377 GRCh37 Chromosome 9, 107543376: 107543376
99 ABCA1 NM_005502.3(ABCA1): c.*3220A> G single nucleotide variant Likely benign rs10991377 GRCh38 Chromosome 9, 104781095: 104781095
100 ABCA1 NM_005502.3(ABCA1): c.*3205_*3207delAAA deletion Likely benign rs538025657 GRCh37 Chromosome 9, 107543389: 107543391
101 ABCA1 NM_005502.3(ABCA1): c.*3205_*3207delAAA deletion Likely benign rs538025657 GRCh38 Chromosome 9, 104781108: 104781110
102 ABCA1 NM_005502.3(ABCA1): c.*3083T> C single nucleotide variant Likely benign rs77877520 GRCh37 Chromosome 9, 107543513: 107543513
103 ABCA1 NM_005502.3(ABCA1): c.*3083T> C single nucleotide variant Likely benign rs77877520 GRCh38 Chromosome 9, 104781232: 104781232
104 ABCA1 NM_005502.3(ABCA1): c.*2446A> C single nucleotide variant Uncertain significance rs886063293 GRCh37 Chromosome 9, 107544150: 107544150
105 ABCA1 NM_005502.3(ABCA1): c.*2446A> C single nucleotide variant Uncertain significance rs886063293 GRCh38 Chromosome 9, 104781869: 104781869
106 ABCA1 NM_005502.3(ABCA1): c.*2089G> A single nucleotide variant Likely benign rs146353431 GRCh37 Chromosome 9, 107544507: 107544507
107 ABCA1 NM_005502.3(ABCA1): c.*2089G> A single nucleotide variant Likely benign rs146353431 GRCh38 Chromosome 9, 104782226: 104782226
108 ABCA1 NM_005502.3(ABCA1): c.*1768T> A single nucleotide variant Likely benign rs535255845 GRCh37 Chromosome 9, 107544828: 107544828
109 ABCA1 NM_005502.3(ABCA1): c.*1768T> A single nucleotide variant Likely benign rs535255845 GRCh38 Chromosome 9, 104782547: 104782547
110 ABCA1 NM_005502.3(ABCA1): c.*1767G> T single nucleotide variant Likely benign rs547281385 GRCh37 Chromosome 9, 107544829: 107544829
111 ABCA1 NM_005502.3(ABCA1): c.*1767G> T single nucleotide variant Likely benign rs547281385 GRCh38 Chromosome 9, 104782548: 104782548
112 ABCA1 NM_005502.3(ABCA1): c.*1653T> A single nucleotide variant Benign rs41432545 GRCh37 Chromosome 9, 107544943: 107544943
113 ABCA1 NM_005502.3(ABCA1): c.*1653T> A single nucleotide variant Benign rs41432545 GRCh38 Chromosome 9, 104782662: 104782662
114 ABCA1 NM_005502.3(ABCA1): c.*1574T> C single nucleotide variant Uncertain significance rs886063297 GRCh37 Chromosome 9, 107545022: 107545022
115 ABCA1 NM_005502.3(ABCA1): c.*1574T> C single nucleotide variant Uncertain significance rs886063297 GRCh38 Chromosome 9, 104782741: 104782741
116 ABCA1 NM_005502.3(ABCA1): c.*1466delT deletion Benign rs200463326 GRCh37 Chromosome 9, 107545130: 107545130
117 ABCA1 NM_005502.3(ABCA1): c.*1466delT deletion Benign rs200463326 GRCh38 Chromosome 9, 104782849: 104782849
118 ABCA1 NM_005502.3(ABCA1): c.*1440C> T single nucleotide variant Benign rs4149339 GRCh37 Chromosome 9, 107545156: 107545156
119 ABCA1 NM_005502.3(ABCA1): c.*1440C> T single nucleotide variant Benign rs4149339 GRCh38 Chromosome 9, 104782875: 104782875
120 ABCA1 NM_005502.3(ABCA1): c.*486G> A single nucleotide variant Uncertain significance rs745459951 GRCh37 Chromosome 9, 107546110: 107546110
121 ABCA1 NM_005502.3(ABCA1): c.*486G> A single nucleotide variant Uncertain significance rs745459951 GRCh38 Chromosome 9, 104783829: 104783829
122 ABCA1 NM_005502.3(ABCA1): c.*321delT deletion Benign rs557492263 GRCh37 Chromosome 9, 107546275: 107546275
123 ABCA1 NM_005502.3(ABCA1): c.*321delT deletion Benign rs557492263 GRCh38 Chromosome 9, 104783994: 104783994
124 ABCA1 NM_005502.3(ABCA1): c.*289T> C single nucleotide variant Uncertain significance rs886063303 GRCh38 Chromosome 9, 104784026: 104784026
125 ABCA1 NM_005502.3(ABCA1): c.*289T> C single nucleotide variant Uncertain significance rs886063303 GRCh37 Chromosome 9, 107546307: 107546307
126 ABCA1 NM_005502.3(ABCA1): c.6184G> A (p.Gly2062Arg) single nucleotide variant Uncertain significance rs752051518 GRCh37 Chromosome 9, 107550221: 107550221
127 ABCA1 NM_005502.3(ABCA1): c.6184G> A (p.Gly2062Arg) single nucleotide variant Uncertain significance rs752051518 GRCh38 Chromosome 9, 104787940: 104787940
128 ABCA1 NM_005502.3(ABCA1): c.5757+12C> T single nucleotide variant Uncertain significance rs769533549 GRCh37 Chromosome 9, 107555055: 107555055
129 ABCA1 NM_005502.3(ABCA1): c.5757+12C> T single nucleotide variant Uncertain significance rs769533549 GRCh38 Chromosome 9, 104792774: 104792774
130 ABCA1 NM_005502.3(ABCA1): c.5383-5_5383-3dupTTT duplication Benign rs377469216 GRCh37 Chromosome 9, 107556794: 107556796
131 ABCA1 NM_005502.3(ABCA1): c.5383-5_5383-3dupTTT duplication Benign rs377469216 GRCh38 Chromosome 9, 104794513: 104794515
132 ABCA1 NM_005502.3(ABCA1): c.5376C> T (p.Thr1792=) single nucleotide variant Likely benign rs13306077 GRCh37 Chromosome 9, 107558340: 107558340
133 ABCA1 NM_005502.3(ABCA1): c.5376C> T (p.Thr1792=) single nucleotide variant Likely benign rs13306077 GRCh38 Chromosome 9, 104796059: 104796059
134 ABCA1 NM_005502.3(ABCA1): c.5039G> A (p.Arg1680Gln) single nucleotide variant Likely benign rs150125857 GRCh37 Chromosome 9, 107560784: 107560784
135 ABCA1 NM_005502.3(ABCA1): c.5039G> A (p.Arg1680Gln) single nucleotide variant Likely benign rs150125857 GRCh38 Chromosome 9, 104798503: 104798503
136 ABCA1 NM_005502.3(ABCA1): c.5034G> A (p.Gln1678=) single nucleotide variant Likely benign rs13306075 GRCh37 Chromosome 9, 107560789: 107560789
137 ABCA1 NM_005502.3(ABCA1): c.5034G> A (p.Gln1678=) single nucleotide variant Likely benign rs13306075 GRCh38 Chromosome 9, 104798508: 104798508
138 ABCA1 NM_005502.3(ABCA1): c.5019C> T (p.Val1673=) single nucleotide variant Likely benign rs371136175 GRCh37 Chromosome 9, 107560804: 107560804
139 ABCA1 NM_005502.3(ABCA1): c.5019C> T (p.Val1673=) single nucleotide variant Likely benign rs371136175 GRCh38 Chromosome 9, 104798523: 104798523
140 ABCA1 NM_005502.3(ABCA1): c.4158A> G (p.Glu1386=) single nucleotide variant Uncertain significance rs886063306 GRCh37 Chromosome 9, 107573098: 107573098
141 ABCA1 NM_005502.3(ABCA1): c.4158A> G (p.Glu1386=) single nucleotide variant Uncertain significance rs886063306 GRCh38 Chromosome 9, 104810817: 104810817
142 ABCA1 NM_005502.3(ABCA1): c.3945G> A (p.Gly1315=) single nucleotide variant Benign rs35545593 GRCh37 Chromosome 9, 107574960: 107574960
143 ABCA1 NM_005502.3(ABCA1): c.3945G> A (p.Gly1315=) single nucleotide variant Benign rs35545593 GRCh38 Chromosome 9, 104812679: 104812679
144 ABCA1 NM_005502.3(ABCA1): c.3833A> G (p.Lys1278Arg) single nucleotide variant Uncertain significance rs886063308 GRCh37 Chromosome 9, 107576467: 107576467
145 ABCA1 NM_005502.3(ABCA1): c.3833A> G (p.Lys1278Arg) single nucleotide variant Uncertain significance rs886063308 GRCh38 Chromosome 9, 104814186: 104814186
146 ABCA1 NM_005502.3(ABCA1): c.3684G> A (p.Arg1228=) single nucleotide variant Benign rs2230807 GRCh37 Chromosome 9, 107578478: 107578478
147 ABCA1 NM_005502.3(ABCA1): c.3684G> A (p.Arg1228=) single nucleotide variant Benign rs2230807 GRCh38 Chromosome 9, 104816197: 104816197
148 ABCA1 NM_005502.3(ABCA1): c.3633A> G (p.Glu1211=) single nucleotide variant Benign rs34788556 GRCh38 Chromosome 9, 104816248: 104816248
149 ABCA1 NM_005502.3(ABCA1): c.3633A> G (p.Glu1211=) single nucleotide variant Benign rs34788556 GRCh37 Chromosome 9, 107578529: 107578529
150 ABCA1 NM_005502.3(ABCA1): c.3364C> T (p.Leu1122=) single nucleotide variant Benign rs35204915 GRCh37 Chromosome 9, 107581042: 107581042
151 ABCA1 NM_005502.3(ABCA1): c.3364C> T (p.Leu1122=) single nucleotide variant Benign rs35204915 GRCh38 Chromosome 9, 104818761: 104818761
152 ABCA1 NM_005502.3(ABCA1): c.3330C> G (p.Cys1110Trp) single nucleotide variant Uncertain significance rs886063309 GRCh37 Chromosome 9, 107581076: 107581076
153 ABCA1 NM_005502.3(ABCA1): c.3330C> G (p.Cys1110Trp) single nucleotide variant Uncertain significance rs886063309 GRCh38 Chromosome 9, 104818795: 104818795
154 ABCA1 NM_005502.3(ABCA1): c.3159T> G (p.Val1053=) single nucleotide variant Benign/Likely benign rs35871586 GRCh37 Chromosome 9, 107581949: 107581949
155 ABCA1 NM_005502.3(ABCA1): c.3159T> G (p.Val1053=) single nucleotide variant Benign/Likely benign rs35871586 GRCh38 Chromosome 9, 104819668: 104819668
156 ABCA1 NM_005502.3(ABCA1): c.2814G> A (p.Gly938=) single nucleotide variant Likely benign rs9282546 GRCh37 Chromosome 9, 107584791: 107584791
157 ABCA1 NM_005502.3(ABCA1): c.2814G> A (p.Gly938=) single nucleotide variant Likely benign rs9282546 GRCh38 Chromosome 9, 104822510: 104822510
158 ABCA1 NM_005502.3(ABCA1): c.2311G> C (p.Val771Leu) single nucleotide variant Likely benign rs2066718 GRCh37 Chromosome 9, 107589255: 107589255
159 ABCA1 NM_005502.3(ABCA1): c.2311G> C (p.Val771Leu) single nucleotide variant Likely benign rs2066718 GRCh38 Chromosome 9, 104826974: 104826974
160 ABCA1 NM_005502.3(ABCA1): c.2143C> A (p.Pro715Thr) single nucleotide variant Uncertain significance rs886063312 GRCh37 Chromosome 9, 107589423: 107589423
161 ABCA1 NM_005502.3(ABCA1): c.2143C> A (p.Pro715Thr) single nucleotide variant Uncertain significance rs886063312 GRCh38 Chromosome 9, 104827142: 104827142
162 ABCA1 NM_005502.3(ABCA1): c.1635C> T (p.Ser545=) single nucleotide variant Likely benign rs9282539 GRCh37 Chromosome 9, 107593983: 107593983
163 ABCA1 NM_005502.3(ABCA1): c.1635C> T (p.Ser545=) single nucleotide variant Likely benign rs9282539 GRCh38 Chromosome 9, 104831702: 104831702
164 ABCA1 NM_005502.3(ABCA1): c.1486C> T (p.Arg496Trp) single nucleotide variant Likely benign rs147675550 GRCh37 Chromosome 9, 107594878: 107594878
165 ABCA1 NM_005502.3(ABCA1): c.1486C> T (p.Arg496Trp) single nucleotide variant Likely benign rs147675550 GRCh38 Chromosome 9, 104832597: 104832597
166 ABCA1 NM_005502.3(ABCA1): c.842T> C (p.Met281Thr) single nucleotide variant Likely benign rs559110055 GRCh37 Chromosome 9, 107602772: 107602772
167 ABCA1 NM_005502.3(ABCA1): c.842T> C (p.Met281Thr) single nucleotide variant Likely benign rs559110055 GRCh38 Chromosome 9, 104840491: 104840491
168 ABCA1 NM_005502.3(ABCA1): c.787C> G (p.His263Asp) single nucleotide variant Uncertain significance rs200572505 GRCh37 Chromosome 9, 107607784: 107607784
169 ABCA1 NM_005502.3(ABCA1): c.787C> G (p.His263Asp) single nucleotide variant Uncertain significance rs200572505 GRCh38 Chromosome 9, 104845503: 104845503
170 ABCA1 NM_005502.3(ABCA1): c.97C> T (p.Leu33=) single nucleotide variant Uncertain significance rs886063313 GRCh37 Chromosome 9, 107651446: 107651446
171 ABCA1 NM_005502.3(ABCA1): c.97C> T (p.Leu33=) single nucleotide variant Uncertain significance rs886063313 GRCh38 Chromosome 9, 104889165: 104889165
172 ABCA1 NM_005502.3(ABCA1): c.-138G> A single nucleotide variant Uncertain significance rs764398402 GRCh37 Chromosome 9, 107690261: 107690261
173 ABCA1 NM_005502.3(ABCA1): c.-138G> A single nucleotide variant Uncertain significance rs764398402 GRCh38 Chromosome 9, 104927980: 104927980
174 ABCA1 NM_005502.3(ABCA1): c.-289G> T single nucleotide variant Uncertain significance rs886063316 GRCh37 Chromosome 9, 107690412: 107690412
175 ABCA1 NM_005502.3(ABCA1): c.-289G> T single nucleotide variant Uncertain significance rs886063316 GRCh38 Chromosome 9, 104928131: 104928131
176 ABCA1 NM_005502.3(ABCA1): c.-343A> C single nucleotide variant Uncertain significance rs886063317 GRCh37 Chromosome 9, 107690466: 107690466
177 ABCA1 NM_005502.3(ABCA1): c.-343A> C single nucleotide variant Uncertain significance rs886063317 GRCh38 Chromosome 9, 104928185: 104928185
178 APOA1 NM_000039.2(APOA1): c.562G> T (p.Ala188Ser) single nucleotide variant Likely benign rs140770089 GRCh37 Chromosome 11, 116706766: 116706766
179 APOA1 NM_000039.2(APOA1): c.562G> T (p.Ala188Ser) single nucleotide variant Likely benign rs140770089 GRCh38 Chromosome 11, 116836050: 116836050
180 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh37 Chromosome 11, 116706848: 116706848
181 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh38 Chromosome 11, 116836132: 116836132
182 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh37 Chromosome 11, 116706874: 116706874
183 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh38 Chromosome 11, 116836158: 116836158
184 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh37 Chromosome 11, 116707749: 116707749
185 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh38 Chromosome 11, 116837033: 116837033
186 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh37 Chromosome 11, 116708095: 116708095
187 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh38 Chromosome 11, 116837379: 116837379
188 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh37 Chromosome 11, 116708114: 116708114
189 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh38 Chromosome 11, 116837398: 116837398
190 ABCA1 NM_005502.3(ABCA1): c.*3279A> T single nucleotide variant Likely benign rs572159293 GRCh37 Chromosome 9, 107543317: 107543317
191 ABCA1 NM_005502.3(ABCA1): c.*3279A> T single nucleotide variant Likely benign rs572159293 GRCh38 Chromosome 9, 104781036: 104781036
192 ABCA1 NM_005502.3(ABCA1): c.*3251T> C single nucleotide variant Likely benign rs148080589 GRCh37 Chromosome 9, 107543345: 107543345
193 ABCA1 NM_005502.3(ABCA1): c.*3251T> C single nucleotide variant Likely benign rs148080589 GRCh38 Chromosome 9, 104781064: 104781064
194 ABCA1 NM_005502.3(ABCA1): c.*2907A> C single nucleotide variant Likely benign rs551547276 GRCh37 Chromosome 9, 107543689: 107543689
195 ABCA1 NM_005502.3(ABCA1): c.*2907A> C single nucleotide variant Likely benign rs551547276 GRCh38 Chromosome 9, 104781408: 104781408
196 ABCA1 NM_005502.3(ABCA1): c.*2653C> G single nucleotide variant Likely benign rs535377345 GRCh37 Chromosome 9, 107543943: 107543943
197 ABCA1 NM_005502.3(ABCA1): c.*2653C> G single nucleotide variant Likely benign rs535377345 GRCh38 Chromosome 9, 104781662: 104781662
198 ABCA1 NM_005502.3(ABCA1): c.*2611A> G single nucleotide variant Likely benign rs572043133 GRCh37 Chromosome 9, 107543985: 107543985
199 ABCA1 NM_005502.3(ABCA1): c.*2611A> G single nucleotide variant Likely benign rs572043133 GRCh38 Chromosome 9, 104781704: 104781704
200 ABCA1 NM_005502.3(ABCA1): c.*1326C> T single nucleotide variant Likely benign rs563738526 GRCh38 Chromosome 9, 104782989: 104782989
201 ABCA1 NM_005502.3(ABCA1): c.*1326C> T single nucleotide variant Likely benign rs563738526 GRCh37 Chromosome 9, 107545270: 107545270
202 ABCA1 NM_005502.3(ABCA1): c.*1291delT deletion Likely benign rs547038401 GRCh37 Chromosome 9, 107545305: 107545305
203 ABCA1 NM_005502.3(ABCA1): c.*1291delT deletion Likely benign rs547038401 GRCh38 Chromosome 9, 104783024: 104783024
204 ABCA1 NM_005502.3(ABCA1): c.*566G> C single nucleotide variant Uncertain significance rs886063302 GRCh37 Chromosome 9, 107546030: 107546030
205 ABCA1 NM_005502.3(ABCA1): c.*566G> C single nucleotide variant Uncertain significance rs886063302 GRCh38 Chromosome 9, 104783749: 104783749
206 ABCA1 NM_005502.3(ABCA1): c.*417A> G single nucleotide variant Likely benign rs561319670 GRCh37 Chromosome 9, 107546179: 107546179
207 ABCA1 NM_005502.3(ABCA1): c.*417A> G single nucleotide variant Likely benign rs561319670 GRCh38 Chromosome 9, 104783898: 104783898
208 ABCA1 NM_005502.3(ABCA1): c.*19G> T single nucleotide variant Likely benign rs368288959 GRCh38 Chromosome 9, 104784296: 104784296
209 ABCA1 NM_005502.3(ABCA1): c.*19G> T single nucleotide variant Likely benign rs368288959 GRCh37 Chromosome 9, 107546577: 107546577
210 ABCA1 NM_005502.3(ABCA1): c.6450G> A (p.Pro2150=) single nucleotide variant Likely benign rs61741359 GRCh37 Chromosome 9, 107547872: 107547872
211 ABCA1 NM_005502.3(ABCA1): c.6450G> A (p.Pro2150=) single nucleotide variant Likely benign rs61741359 GRCh38 Chromosome 9, 104785591: 104785591
212 ABCA1 NM_005502.3(ABCA1): c.5813C> T (p.Pro1938Leu) single nucleotide variant Uncertain significance rs868096941 GRCh37 Chromosome 9, 107554224: 107554224
213 ABCA1 NM_005502.3(ABCA1): c.5813C> T (p.Pro1938Leu) single nucleotide variant Uncertain significance rs868096941 GRCh38 Chromosome 9, 104791943: 104791943
214 ABCA1 NM_005502.3(ABCA1): c.5774G> A (p.Arg1925Gln) single nucleotide variant Likely benign rs142688906 GRCh37 Chromosome 9, 107554263: 107554263
215 ABCA1 NM_005502.3(ABCA1): c.5774G> A (p.Arg1925Gln) single nucleotide variant Likely benign rs142688906 GRCh38 Chromosome 9, 104791982: 104791982
216 ABCA1 NM_005502.3(ABCA1): c.5383-3delT deletion Benign rs766536085 GRCh37 Chromosome 9, 107556794: 107556794
217 ABCA1 NM_005502.3(ABCA1): c.5383-3delT deletion Benign rs766536085 GRCh38 Chromosome 9, 104794513: 104794513
218 ABCA1 NM_005502.3(ABCA1): c.5020G> A (p.Val1674Ile) single nucleotide variant Likely benign rs138422574 GRCh37 Chromosome 9, 107560803: 107560803
219 ABCA1 NM_005502.3(ABCA1): c.5020G> A (p.Val1674Ile) single nucleotide variant Likely benign rs138422574 GRCh38 Chromosome 9, 104798522: 104798522
220 ABCA1 NM_005502.3(ABCA1): c.4760A> G (p.Lys1587Arg) single nucleotide variant Benign rs2230808 GRCh37 Chromosome 9, 107562804: 107562804
221 ABCA1 NM_005502.3(ABCA1): c.4760A> G (p.Lys1587Arg) single nucleotide variant Benign rs2230808 GRCh38 Chromosome 9, 104800523: 104800523
222 ABCA1 NM_005502.3(ABCA1): c.4698+7T> C single nucleotide variant Likely benign rs41415046 GRCh37 Chromosome 9, 107564328: 107564328
223 ABCA1 NM_005502.3(ABCA1): c.4698+7T> C single nucleotide variant Likely benign rs41415046 GRCh38 Chromosome 9, 104802047: 104802047
224 ABCA1 NM_005502.3(ABCA1): c.4536G> T (p.Thr1512=) single nucleotide variant Likely benign rs41277763 GRCh37 Chromosome 9, 107566930: 107566930
225 ABCA1 NM_005502.3(ABCA1): c.4536G> T (p.Thr1512=) single nucleotide variant Likely benign rs41277763 GRCh38 Chromosome 9, 104804649: 104804649
226 ABCA1 NM_005502.3(ABCA1): c.4222C> T (p.Leu1408Phe) single nucleotide variant Likely benign rs201879964 GRCh37 Chromosome 9, 107571799: 107571799
227 ABCA1 NM_005502.3(ABCA1): c.4222C> T (p.Leu1408Phe) single nucleotide variant Likely benign rs201879964 GRCh38 Chromosome 9, 104809518: 104809518
228 ABCA1 NM_005502.3(ABCA1): c.4024C> T (p.Arg1342Trp) single nucleotide variant Uncertain significance rs760786920 GRCh37 Chromosome 9, 107574881: 107574881
229 ABCA1 NM_005502.3(ABCA1): c.4024C> T (p.Arg1342Trp) single nucleotide variant Uncertain significance rs760786920 GRCh38 Chromosome 9, 104812600: 104812600
230 ABCA1 NM_005502.3(ABCA1): c.3726G> A (p.Thr1242=) single nucleotide variant Likely benign rs548468204 GRCh37 Chromosome 9, 107578436: 107578436
231 ABCA1 NM_005502.3(ABCA1): c.3726G> A (p.Thr1242=) single nucleotide variant Likely benign rs548468204 GRCh38 Chromosome 9, 104816155: 104816155
232 ABCA1 NM_005502.3(ABCA1): c.*2746T> C single nucleotide variant Uncertain significance rs754322675 GRCh37 Chromosome 9, 107543850: 107543850
233 ABCA1 NM_005502.3(ABCA1): c.*2746T> C single nucleotide variant Uncertain significance rs754322675 GRCh38 Chromosome 9, 104781569: 104781569
234 ABCA1 NM_005502.3(ABCA1): c.3516G> C (p.Glu1172Asp) single nucleotide variant Benign rs33918808 GRCh37 Chromosome 9, 107579632: 107579632
235 ABCA1 NM_005502.3(ABCA1): c.3516G> C (p.Glu1172Asp) single nucleotide variant Benign rs33918808 GRCh38 Chromosome 9, 104817351: 104817351
236 ABCA1 NM_005502.3(ABCA1): c.3099G> C (p.Leu1033=) single nucleotide variant Uncertain significance rs144726669 GRCh37 Chromosome 9, 107582212: 107582212
237 ABCA1 NM_005502.3(ABCA1): c.3099G> C (p.Leu1033=) single nucleotide variant Uncertain significance rs144726669 GRCh38 Chromosome 9, 104819931: 104819931
238 ABCA1 NM_005502.3(ABCA1): c.*2486T> C single nucleotide variant Likely benign rs539455164 GRCh37 Chromosome 9, 107544110: 107544110
239 ABCA1 NM_005502.3(ABCA1): c.*2486T> C single nucleotide variant Likely benign rs539455164 GRCh38 Chromosome 9, 104781829: 104781829
240 ABCA1 NM_005502.3(ABCA1): c.*2409T> C single nucleotide variant Likely benign rs557529420 GRCh37 Chromosome 9, 107544187: 107544187
241 ABCA1 NM_005502.3(ABCA1): c.*2409T> C single nucleotide variant Likely benign rs557529420 GRCh38 Chromosome 9, 104781906: 104781906
242 ABCA1 NM_005502.3(ABCA1): c.2602G> A (p.Glu868Lys) single nucleotide variant Likely benign rs35207495 GRCh37 Chromosome 9, 107586800: 107586800
243 ABCA1 NM_005502.3(ABCA1): c.2602G> A (p.Glu868Lys) single nucleotide variant Likely benign rs35207495 GRCh38 Chromosome 9, 104824519: 104824519
244 ABCA1 NM_005502.3(ABCA1): c.2337+8C> A single nucleotide variant Uncertain significance rs886063311 GRCh37 Chromosome 9, 107589221: 107589221
245 ABCA1 NM_005502.3(ABCA1): c.2337+8C> A single nucleotide variant Uncertain significance rs886063311 GRCh38 Chromosome 9, 104826940: 104826940
246 ABCA1 NM_005502.3(ABCA1): c.1996C> T (p.Arg666Trp) single nucleotide variant Uncertain significance rs201599169 GRCh37 Chromosome 9, 107591316: 107591316
247 ABCA1 NM_005502.3(ABCA1): c.1996C> T (p.Arg666Trp) single nucleotide variant Uncertain significance rs201599169 GRCh38 Chromosome 9, 104829035: 104829035
248 ABCA1 NM_005502.3(ABCA1): c.1530A> G (p.Leu510=) single nucleotide variant Likely benign rs34590907 GRCh37 Chromosome 9, 107594088: 107594088
249 ABCA1 NM_005502.3(ABCA1): c.1530A> G (p.Leu510=) single nucleotide variant Likely benign rs34590907 GRCh38 Chromosome 9, 104831807: 104831807
250 ABCA1 NM_005502.3(ABCA1): c.1195-13C> T single nucleotide variant Benign rs2297399 GRCh37 Chromosome 9, 107599390: 107599390
251 ABCA1 NM_005502.3(ABCA1): c.1195-13C> T single nucleotide variant Benign rs2297399 GRCh38 Chromosome 9, 104837109: 104837109
252 ABCA1 NM_005502.3(ABCA1): c.1055-7T> C single nucleotide variant Likely benign rs199586194 GRCh37 Chromosome 9, 107599855: 107599855
253 ABCA1 NM_005502.3(ABCA1): c.1055-7T> C single nucleotide variant Likely benign rs199586194 GRCh38 Chromosome 9, 104837574: 104837574
254 ABCA1 NM_005502.3(ABCA1): c.651A> G (p.Leu217=) single nucleotide variant Likely benign rs9282538 GRCh37 Chromosome 9, 107620872: 107620872
255 ABCA1 NM_005502.3(ABCA1): c.651A> G (p.Leu217=) single nucleotide variant Likely benign rs9282538 GRCh38 Chromosome 9, 104858591: 104858591
256 ABCA1 NM_005502.3(ABCA1): c.474G> A (p.Leu158=) single nucleotide variant Benign rs2230805 GRCh38 Chromosome 9, 104861748: 104861748
257 ABCA1 NM_005502.3(ABCA1): c.474G> A (p.Leu158=) single nucleotide variant Benign rs2230805 GRCh37 Chromosome 9, 107624029: 107624029
258 ABCA1 NM_005502.3(ABCA1): c.352A> G (p.Lys118Glu) single nucleotide variant Uncertain significance rs753703009 GRCh38 Chromosome 9, 104883108: 104883108
259 ABCA1 NM_005502.3(ABCA1): c.352A> G (p.Lys118Glu) single nucleotide variant Uncertain significance rs753703009 GRCh37 Chromosome 9, 107645389: 107645389
260 ABCA1 NM_005502.3(ABCA1): c.302+15A> T single nucleotide variant Likely benign rs200532064 GRCh37 Chromosome 9, 107646693: 107646693
261 ABCA1 NM_005502.3(ABCA1): c.302+15A> T single nucleotide variant Likely benign rs200532064 GRCh38 Chromosome 9, 104884412: 104884412
262 ABCA1 NM_005502.3(ABCA1): c.-114C> G single nucleotide variant Uncertain significance rs755894358 GRCh37 Chromosome 9, 107690237: 107690237
263 ABCA1 NM_005502.3(ABCA1): c.-114C> G single nucleotide variant Uncertain significance rs755894358 GRCh38 Chromosome 9, 104927956: 104927956
264 ABCA1 NM_005502.3(ABCA1): c.-141C> T single nucleotide variant Uncertain significance rs886063314 GRCh37 Chromosome 9, 107690264: 107690264
265 ABCA1 NM_005502.3(ABCA1): c.-141C> T single nucleotide variant Uncertain significance rs886063314 GRCh38 Chromosome 9, 104927983: 104927983
266 ABCA1 NM_005502.3(ABCA1): c.-141C> G single nucleotide variant Uncertain significance rs886063314 GRCh37 Chromosome 9, 107690264: 107690264
267 ABCA1 NM_005502.3(ABCA1): c.-141C> G single nucleotide variant Uncertain significance rs886063314 GRCh38 Chromosome 9, 104927983: 104927983
268 ABCA1 NM_005502.3(ABCA1): c.-279C> G single nucleotide variant Likely benign rs111292742 GRCh37 Chromosome 9, 107690402: 107690402
269 ABCA1 NM_005502.3(ABCA1): c.-279C> G single nucleotide variant Likely benign rs111292742 GRCh38 Chromosome 9, 104928121: 104928121
270 ABCA1 NM_005502.3(ABCA1): c.*2311A> G single nucleotide variant Benign rs4149341 GRCh37 Chromosome 9, 107544285: 107544285
271 ABCA1 NM_005502.3(ABCA1): c.*2311A> G single nucleotide variant Benign rs4149341 GRCh38 Chromosome 9, 104782004: 104782004
272 ABCA1 NM_005502.3(ABCA1): c.*2220T> A single nucleotide variant Uncertain significance rs886063294 GRCh38 Chromosome 9, 104782095: 104782095
273 ABCA1 NM_005502.3(ABCA1): c.*2220T> A single nucleotide variant Uncertain significance rs886063294 GRCh37 Chromosome 9, 107544376: 107544376
274 ABCA1 NM_005502.3(ABCA1): c.*1923A> C single nucleotide variant Likely benign rs41437944 GRCh37 Chromosome 9, 107544673: 107544673
275 ABCA1 NM_005502.3(ABCA1): c.*1923A> C single nucleotide variant Likely benign rs41437944 GRCh38 Chromosome 9, 104782392: 104782392
276 ABCA1 NM_005502.3(ABCA1): c.*1900T> G single nucleotide variant Uncertain significance rs886063295 GRCh38 Chromosome 9, 104782415: 104782415
277 ABCA1 NM_005502.3(ABCA1): c.*1900T> G single nucleotide variant Uncertain significance rs886063295 GRCh37 Chromosome 9, 107544696: 107544696
278 ABCA1 NM_005502.3(ABCA1): c.*1586A> G single nucleotide variant Likely benign rs75340923 GRCh37 Chromosome 9, 107545010: 107545010
279 ABCA1 NM_005502.3(ABCA1): c.*1586A> G single nucleotide variant Likely benign rs75340923 GRCh38 Chromosome 9, 104782729: 104782729
280 ABCA1 NM_005502.3(ABCA1): c.*1476A> G single nucleotide variant Likely benign rs537176920 GRCh38 Chromosome 9, 104782839: 104782839
281 ABCA1 NM_005502.3(ABCA1): c.*1476A> G single nucleotide variant Likely benign rs537176920 GRCh37 Chromosome 9, 107545120: 107545120
282 ABCA1 NM_005502.3(ABCA1): c.*1467A> T single nucleotide variant Uncertain significance rs886063298 GRCh37 Chromosome 9, 107545129: 107545129
283 ABCA1 NM_005502.3(ABCA1): c.*1467A> T single nucleotide variant Uncertain significance rs886063298 GRCh38 Chromosome 9, 104782848: 104782848
284 ABCA1 NM_005502.3(ABCA1): c.*1373dupT duplication Likely benign rs577914936 GRCh37 Chromosome 9, 107545223: 107545223
285 ABCA1 NM_005502.3(ABCA1): c.*1373dupT duplication Likely benign rs577914936 GRCh38 Chromosome 9, 104782942: 104782942
286 ABCA1 NM_005502.3(ABCA1): c.*875T> A single nucleotide variant Uncertain significance rs886063300 GRCh37 Chromosome 9, 107545721: 107545721
287 ABCA1 NM_005502.3(ABCA1): c.*875T> A single nucleotide variant Uncertain significance rs886063300 GRCh38 Chromosome 9, 104783440: 104783440
288 ABCA1 NM_005502.3(ABCA1): c.*693C> T single nucleotide variant Benign rs4149338 GRCh37 Chromosome 9, 107545903: 107545903
289 ABCA1 NM_005502.3(ABCA1): c.*693C> T single nucleotide variant Benign rs4149338 GRCh38 Chromosome 9, 104783622: 104783622
290 ABCA1 NM_005502.3(ABCA1): c.*614C> T single nucleotide variant Uncertain significance rs879092419 GRCh37 Chromosome 9, 107545982: 107545982
291 ABCA1 NM_005502.3(ABCA1): c.*614C> T single nucleotide variant Uncertain significance rs879092419 GRCh38 Chromosome 9, 104783701: 104783701
292 ABCA1 NM_005502.3(ABCA1): c.*303C> T single nucleotide variant Likely benign rs530474404 GRCh38 Chromosome 9, 104784012: 104784012
293 ABCA1 NM_005502.3(ABCA1): c.*303C> T single nucleotide variant Likely benign rs530474404 GRCh37 Chromosome 9, 107546293: 107546293
294 ABCA1 NM_005502.3(ABCA1): c.*132A> G single nucleotide variant Uncertain significance rs886063304 GRCh38 Chromosome 9, 104784183: 104784183
295 ABCA1 NM_005502.3(ABCA1): c.*132A> G single nucleotide variant Uncertain significance rs886063304 GRCh37 Chromosome 9, 107546464: 107546464
296 ABCA1 NM_005502.3(ABCA1): c.*96T> C single nucleotide variant Likely benign rs74316246 GRCh38 Chromosome 9, 104784219: 104784219
297 ABCA1 NM_005502.3(ABCA1): c.*96T> C single nucleotide variant Likely benign rs74316246 GRCh37 Chromosome 9, 107546500: 107546500
298 ABCA1 NM_005502.3(ABCA1): c.6729C> A (p.Asp2243Glu) single nucleotide variant Likely benign rs34879708 GRCh37 Chromosome 9, 107546653: 107546653
299 ABCA1 NM_005502.3(ABCA1): c.6729C> A (p.Asp2243Glu) single nucleotide variant Likely benign rs34879708 GRCh38 Chromosome 9, 104784372: 104784372
300 ABCA1 NM_005502.3(ABCA1): c.6401+13A> G single nucleotide variant Benign rs2066881 GRCh37 Chromosome 9, 107548566: 107548566
301 ABCA1 NM_005502.3(ABCA1): c.6401+13A> G single nucleotide variant Benign rs2066881 GRCh38 Chromosome 9, 104786285: 104786285
302 ABCA1 NM_005502.3(ABCA1): c.5763T> C (p.Tyr1921=) single nucleotide variant Benign rs34078184 GRCh37 Chromosome 9, 107554274: 107554274
303 ABCA1 NM_005502.3(ABCA1): c.5763T> C (p.Tyr1921=) single nucleotide variant Benign rs34078184 GRCh38 Chromosome 9, 104791993: 104791993
304 ABCA1 NM_005502.3(ABCA1): c.5383-6_5383-3dupTTTT duplication Uncertain significance rs377469216 GRCh37 Chromosome 9, 107556794: 107556797
305 ABCA1 NM_005502.3(ABCA1): c.5383-6_5383-3dupTTTT duplication Uncertain significance rs377469216 GRCh38 Chromosome 9, 104794513: 104794516
306 ABCA1 NM_005502.3(ABCA1): c.5301T> C (p.Tyr1767=) single nucleotide variant Likely benign rs145246003 GRCh37 Chromosome 9, 107558415: 107558415
307 ABCA1 NM_005502.3(ABCA1): c.5301T> C (p.Tyr1767=) single nucleotide variant Likely benign rs145246003 GRCh38 Chromosome 9, 104796134: 104796134
308 ABCA1 NM_005502.3(ABCA1): c.4281G> A (p.Thr1427=) single nucleotide variant Benign rs2066716 GRCh37 Chromosome 9, 107568705: 107568705
309 ABCA1 NM_005502.3(ABCA1): c.4281G> A (p.Thr1427=) single nucleotide variant Benign rs2066716 GRCh38 Chromosome 9, 104806424: 104806424
310 ABCA1 NM_005502.3(ABCA1): c.4161G> A (p.Gln1387=) single nucleotide variant Uncertain significance rs200409979 GRCh37 Chromosome 9, 107573095: 107573095
311 ABCA1 NM_005502.3(ABCA1): c.4161G> A (p.Gln1387=) single nucleotide variant Uncertain significance rs200409979 GRCh38 Chromosome 9, 104810814: 104810814
312 ABCA1 NM_005502.3(ABCA1): c.3985T> G (p.Phe1329Val) single nucleotide variant Uncertain significance rs886063307 GRCh37 Chromosome 9, 107574920: 107574920
313 ABCA1 NM_005502.3(ABCA1): c.3985T> G (p.Phe1329Val) single nucleotide variant Uncertain significance rs886063307 GRCh38 Chromosome 9, 104812639: 104812639
314 ABCA1 NM_005502.3(ABCA1): c.3542C> T (p.Ser1181Phe) single nucleotide variant Likely benign rs76881554 GRCh38 Chromosome 9, 104816339: 104816339
315 ABCA1 NM_005502.3(ABCA1): c.3542C> T (p.Ser1181Phe) single nucleotide variant Likely benign rs76881554 GRCh37 Chromosome 9, 107578620: 107578620
316 ABCA1 NM_005502.3(ABCA1): c.3286G> A (p.Val1096Ile) single nucleotide variant Likely benign rs13306073 GRCh37 Chromosome 9, 107581120: 107581120
317 ABCA1 NM_005502.3(ABCA1): c.3286G> A (p.Val1096Ile) single nucleotide variant Likely benign rs13306073 GRCh38 Chromosome 9, 104818839: 104818839
318 ABCA1 NM_005502.3(ABCA1): c.3204C> T (p.Arg1068=) single nucleotide variant Benign/Likely benign rs55814314 GRCh37 Chromosome 9, 107581904: 107581904
319 ABCA1 NM_005502.3(ABCA1): c.3204C> T (p.Arg1068=) single nucleotide variant Benign/Likely benign rs55814314 GRCh38 Chromosome 9, 104819623: 104819623
320 ABCA1 NM_005502.3(ABCA1): c.3053A> G (p.Asp1018Gly) single nucleotide variant Likely benign rs140365800 GRCh37 Chromosome 9, 107582258: 107582258
321 ABCA1 NM_005502.3(ABCA1): c.3053A> G (p.Asp1018Gly) single nucleotide variant Likely benign rs140365800 GRCh38 Chromosome 9, 104819977: 104819977
322 ABCA1 NM_005502.3(ABCA1): c.2649A> G (p.Ile883Met) single nucleotide variant Benign rs2066714 GRCh38 Chromosome 9, 104824472: 104824472
323 ABCA1 NM_005502.3(ABCA1): c.2649A> G (p.Ile883Met) single nucleotide variant Benign rs2066714 GRCh37 Chromosome 9, 107586753: 107586753
324 ABCA1 NM_005502.3(ABCA1): c.2473G> A (p.Val825Ile) single nucleotide variant Benign rs2066715 GRCh37 Chromosome 9, 107588033: 107588033
325 ABCA1 NM_005502.3(ABCA1): c.2473G> A (p.Val825Ile) single nucleotide variant Benign rs2066715 GRCh38 Chromosome 9, 104825752: 104825752
326 ABCA1 NM_005502.3(ABCA1): c.2328G> C (p.Lys776Asn) single nucleotide variant Likely benign rs138880920 GRCh37 Chromosome 9, 107589238: 107589238
327 ABCA1 NM_005502.3(ABCA1): c.2328G> C (p.Lys776Asn) single nucleotide variant Likely benign rs138880920 GRCh38 Chromosome 9, 104826957: 104826957
328 ABCA1 NM_005502.3(ABCA1): c.2320A> C (p.Thr774Pro) single nucleotide variant Benign/Likely benign rs35819696 GRCh38 Chromosome 9, 104826965: 104826965
329 ABCA1 NM_005502.3(ABCA1): c.2320A> C (p.Thr774Pro) single nucleotide variant Benign/Likely benign rs35819696 GRCh37 Chromosome 9, 107589246: 107589246
330 ABCA1 NM_005502.3(ABCA1): c.2311G> A (p.Val771Met) single nucleotide variant Benign rs2066718 GRCh37 Chromosome 9, 107589255: 107589255
331 ABCA1 NM_005502.3(ABCA1): c.2311G> A (p.Val771Met) single nucleotide variant Benign rs2066718 GRCh38 Chromosome 9, 104826974: 104826974
332 ABCA1 NM_005502.3(ABCA1): c.2283C> T (p.Tyr761=) single nucleotide variant Likely benign rs201076284 GRCh37 Chromosome 9, 107589283: 107589283
333 ABCA1 NM_005502.3(ABCA1): c.2283C> T (p.Tyr761=) single nucleotide variant Likely benign rs201076284 GRCh38 Chromosome 9, 104827002: 104827002
334 ABCA1 NM_005502.3(ABCA1): c.2196G> A (p.Gln732=) single nucleotide variant Likely benign rs187695583 GRCh37 Chromosome 9, 107589370: 107589370
335 ABCA1 NM_005502.3(ABCA1): c.2196G> A (p.Gln732=) single nucleotide variant Likely benign rs187695583 GRCh38 Chromosome 9, 104827089: 104827089
336 ABCA1 NM_005502.3(ABCA1): c.2089G> A (p.Ala697Thr) single nucleotide variant Likely benign rs114620717 GRCh37 Chromosome 9, 107591223: 107591223
337 ABCA1 NM_005502.3(ABCA1): c.2089G> A (p.Ala697Thr) single nucleotide variant Likely benign rs114620717 GRCh38 Chromosome 9, 104828942: 104828942
338 ABCA1 NM_005502.3(ABCA1): c.2040C> A (p.Ile680=) single nucleotide variant Benign rs2853579 GRCh37 Chromosome 9, 107591272: 107591272
339 ABCA1 NM_005502.3(ABCA1): c.2040C> A (p.Ile680=) single nucleotide variant Benign rs2853579 GRCh38 Chromosome 9, 104828991: 104828991
340 ABCA1 NM_005502.3(ABCA1): c.1977C> T (p.Ile659=) single nucleotide variant Likely benign rs34083760 GRCh37 Chromosome 9, 107591335: 107591335
341 ABCA1 NM_005502.3(ABCA1): c.1977C> T (p.Ile659=) single nucleotide variant Likely benign rs34083760 GRCh38 Chromosome 9, 104829054: 104829054
342 ABCA1 NM_005502.3(ABCA1): c.1913G> A (p.Arg638Gln) single nucleotide variant Likely benign rs374190304 GRCh37 Chromosome 9, 107591399: 107591399
343 ABCA1 NM_005502.3(ABCA1): c.1913G> A (p.Arg638Gln) single nucleotide variant Likely benign rs374190304 GRCh38 Chromosome 9, 104829118: 104829118
344 ABCA1 NM_005502.3(ABCA1): c.1716G> A (p.Gly572=) single nucleotide variant Uncertain significance rs143299210 GRCh37 Chromosome 9, 107593382: 107593382
345 ABCA1 NM_005502.3(ABCA1): c.1716G> A (p.Gly572=) single nucleotide variant Uncertain significance rs143299210 GRCh38 Chromosome 9, 104831101: 104831101
346 ABCA1 NM_005502.3(ABCA1): c.1196T> C (p.Val399Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs9282543 GRCh37 Chromosome 9, 107599376: 107599376
347 ABCA1 NM_005502.3(ABCA1): c.1196T> C (p.Val399Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs9282543 GRCh38 Chromosome 9, 104837095: 104837095
348 ABCA1 NM_005502.3(ABCA1): c.1028C> T (p.Ala343Val) single nucleotide variant Likely benign rs200030513 GRCh37 Chromosome 9, 107602586: 107602586
349 ABCA1 NM_005502.3(ABCA1): c.1028C> T (p.Ala343Val) single nucleotide variant Likely benign rs200030513 GRCh38 Chromosome 9, 104840305: 104840305
350 ABCA1 NM_005502.3(ABCA1): c.814-14dupA duplication Benign rs2067484 GRCh37 Chromosome 9, 107602814: 107602814
351 ABCA1 NM_005502.3(ABCA1): c.814-14dupA duplication Benign rs2067484 GRCh38 Chromosome 9, 104840533: 104840533
352 ABCA1 NM_005502.3(ABCA1): c.688C> T (p.Arg230Cys) single nucleotide variant Benign rs9282541 GRCh37 Chromosome 9, 107620835: 107620835
353 ABCA1 NM_005502.3(ABCA1): c.688C> T (p.Arg230Cys) single nucleotide variant Benign rs9282541 GRCh38 Chromosome 9, 104858554: 104858554
354 ABCA1 NM_005502.3(ABCA1): c.664C> T (p.Leu222=) single nucleotide variant Uncertain significance rs778130619 GRCh37 Chromosome 9, 107620859: 107620859
355 ABCA1 NM_005502.3(ABCA1): c.664C> T (p.Leu222=) single nucleotide variant Uncertain significance rs778130619 GRCh38 Chromosome 9, 104858578: 104858578
356 ABCA1 NM_005502.3(ABCA1): c.497A> G (p.Lys166Arg) single nucleotide variant Uncertain significance rs377248142 GRCh37 Chromosome 9, 107624006: 107624006
357 ABCA1 NM_005502.3(ABCA1): c.497A> G (p.Lys166Arg) single nucleotide variant Uncertain significance rs377248142 GRCh38 Chromosome 9, 104861725: 104861725
358 ABCA1 NM_005502.3(ABCA1): c.161-12C> G single nucleotide variant Uncertain significance rs201555773 GRCh38 Chromosome 9, 104884580: 104884580
359 ABCA1 NM_005502.3(ABCA1): c.161-12C> G single nucleotide variant Uncertain significance rs201555773 GRCh37 Chromosome 9, 107646861: 107646861
360 ABCA1 NM_005502.3(ABCA1): c.99A> G (p.Leu33=) single nucleotide variant Likely benign rs141151519 GRCh37 Chromosome 9, 107651444: 107651444
361 ABCA1 NM_005502.3(ABCA1): c.99A> G (p.Leu33=) single nucleotide variant Likely benign rs141151519 GRCh38 Chromosome 9, 104889163: 104889163
362 ABCA1 NM_005502.3(ABCA1): c.-26A> C single nucleotide variant Likely benign rs199976989 GRCh37 Chromosome 9, 107665986: 107665986
363 ABCA1 NM_005502.3(ABCA1): c.-26A> C single nucleotide variant Likely benign rs199976989 GRCh38 Chromosome 9, 104903705: 104903705
364 ABCA1 NM_005502.3(ABCA1): c.-76dupG duplication Benign rs1799777 GRCh37 Chromosome 9, 107666036: 107666036
365 ABCA1 NM_005502.3(ABCA1): c.-76dupG duplication Benign rs1799777 GRCh38 Chromosome 9, 104903755: 104903755
366 ABCA1 NM_005502.3(ABCA1): c.-77G> A single nucleotide variant Likely benign rs552862064 GRCh37 Chromosome 9, 107666037: 107666037
367 ABCA1 NM_005502.3(ABCA1): c.-77G> A single nucleotide variant Likely benign rs552862064 GRCh38 Chromosome 9, 104903756: 104903756
368 ABCA1 NM_005502.3(ABCA1): c.-205G> T single nucleotide variant Likely benign rs78086474 GRCh37 Chromosome 9, 107690328: 107690328
369 ABCA1 NM_005502.3(ABCA1): c.-205G> T single nucleotide variant Likely benign rs78086474 GRCh38 Chromosome 9, 104928047: 104928047
370 ABCA1 NM_005502.3(ABCA1): c.-223C> A single nucleotide variant Uncertain significance rs886063315 GRCh37 Chromosome 9, 107690346: 107690346
371 ABCA1 NM_005502.3(ABCA1): c.-223C> A single nucleotide variant Uncertain significance rs886063315 GRCh38 Chromosome 9, 104928065: 104928065
372 ABCA1 NM_005502.3(ABCA1): c.-327C> T single nucleotide variant Benign rs1800977 GRCh37 Chromosome 9, 107690450: 107690450
373 ABCA1 NM_005502.3(ABCA1): c.-327C> T single nucleotide variant Benign rs1800977 GRCh38 Chromosome 9, 104928169: 104928169
374 APOA1 NM_000039.2(APOA1): c.498C> A (p.Ser166Arg) single nucleotide variant Uncertain significance rs757899657 GRCh37 Chromosome 11, 116706830: 116706830
375 APOA1 NM_000039.2(APOA1): c.498C> A (p.Ser166Arg) single nucleotide variant Uncertain significance rs757899657 GRCh38 Chromosome 11, 116836114: 116836114
376 APOA1 NM_000039.2(APOA1): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs746314593 GRCh37 Chromosome 11, 116707801: 116707801
377 APOA1 NM_000039.2(APOA1): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs746314593 GRCh38 Chromosome 11, 116837085: 116837085
378 APOA1 NM_000039.2(APOA1): c.284T> A (p.Phe95Tyr) single nucleotide variant Likely benign rs138407155 GRCh37 Chromosome 11, 116707044: 116707044
379 APOA1 NM_000039.2(APOA1): c.284T> A (p.Phe95Tyr) single nucleotide variant Likely benign rs138407155 GRCh38 Chromosome 11, 116836328: 116836328
380 APOA1 NM_000039.2(APOA1): c.*19C> G single nucleotide variant Likely benign rs187335584 GRCh37 Chromosome 11, 116706505: 116706505
381 APOA1 NM_000039.2(APOA1): c.*19C> G single nucleotide variant Likely benign rs187335584 GRCh38 Chromosome 11, 116835789: 116835789
382 APOA1 NM_000039.2(APOA1): c.732C> G (p.Pro244=) single nucleotide variant Likely benign rs5080 GRCh37 Chromosome 11, 116706596: 116706596
383 APOA1 NM_000039.2(APOA1): c.732C> G (p.Pro244=) single nucleotide variant Likely benign rs5080 GRCh38 Chromosome 11, 116835880: 116835880
384 APOA1 NM_000039.2(APOA1): c.181G> A (p.Ala61Thr) single nucleotide variant Likely benign rs12718465 GRCh37 Chromosome 11, 116707736: 116707736
385 APOA1 NM_000039.2(APOA1): c.181G> A (p.Ala61Thr) single nucleotide variant Likely benign rs12718465 GRCh38 Chromosome 11, 116837020: 116837020
386 APOA1 NM_000039.2(APOA1): c.28G> A (p.Val10Met) single nucleotide variant Uncertain significance rs750125257 GRCh37 Chromosome 11, 116708076: 116708076
387 APOA1 NM_000039.2(APOA1): c.28G> A (p.Val10Met) single nucleotide variant Uncertain significance rs750125257 GRCh38 Chromosome 11, 116837360: 116837360
388 ABCA1 NM_005502.3(ABCA1): c.-412C> G single nucleotide variant Benign rs2740483 GRCh38 Chromosome 9, 104928254: 104928254
389 ABCA1 NM_005502.3(ABCA1): c.-412C> G single nucleotide variant Benign rs2740483 GRCh37 Chromosome 9, 107690535: 107690535
390 ABCA1 NM_005502.3(ABCA1): c.2803A> G (p.Asn935Asp) single nucleotide variant Likely pathogenic rs28937314 GRCh38 Chromosome 9, 104822521: 104822521
391 ABCA1 NM_005502.3(ABCA1): c.2803A> G (p.Asn935Asp) single nucleotide variant Likely pathogenic rs28937314 GRCh37 Chromosome 9, 107584802: 107584802

Expression for Tangier Disease

Search GEO for disease gene expression data for Tangier Disease.

Pathways for Tangier Disease

Pathways related to Tangier Disease according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 ABC transporters hsa02010

Pathways related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 14, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
2
Show member pathways
12.44 APOA1 APOA2 APOB APOE LPL
3
Show member pathways
12.27 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4
Show member pathways
12.11 ABCA1 APOA1 APOB APOE
5
Show member pathways
12.1 APOA1 APOA2 APOB APOE LPL
6 11.79 APOA1 APOE PLCG1
7
Show member pathways
11.69 APOA1 APOB APOE
8 11.48 APOA1 APOA2 LPL PLTP
9
Show member pathways
11.44 ABCA1 APOA1 APOA2 APOB APOE CETP
10
Show member pathways
11.28 ABCA1 APOA1 APOB
11 11 APOA1 APOA2 PLTP
12 10.92 ABCA1 CETP
13 10.9 APOA1 APOB
14 10.74 ABCA1 ABCG1 APOA1 APOA2

GO Terms for Tangier Disease

Cellular components related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 14, show less)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.83 APOA1 APOA2 APOB APOE
2 early endosome GO:0005769 9.81 APOA1 APOA2 APOB APOE
3 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOB APOE
4 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA2 APOB APOE LPL
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.54 APOB APOE
6 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOB APOE
7 spherical high-density lipoprotein particle GO:0034366 9.49 APOA1 APOA2
8 discoidal high-density lipoprotein particle GO:0034365 9.43 APOA1 APOE
9 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
10 chylomicron GO:0042627 9.35 APOA1 APOA2 APOB APOE LPL
11 high-density lipoprotein particle GO:0034364 9.17 ABCA1 APOA1 APOA2 APOE CETP LCAT
12 extracellular exosome GO:0070062 10.13 APOA1 APOA2 APOB APOE CETP LCAT
13 extracellular space GO:0005615 10.06 APOA1 APOA2 APOB APOE CETP LCAT
14 extracellular region GO:0005576 10.02 APOA1 APOA2 APOB APOE CETP LCAT

Biological processes related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 57, show less)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.99 APOA1 APOA2 APOB APOE
2 retinoid metabolic process GO:0001523 9.99 APOA1 APOA2 APOB APOE LPL
3 cholesterol metabolic process GO:0008203 9.97 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 lipoprotein metabolic process GO:0042157 9.95 ABCA1 APOA1 APOA2 APOB APOE
5 phospholipid transport GO:0015914 9.92 ABCA1 APOA1 CETP PLTP
6 phospholipid efflux GO:0033700 9.92 ABCA1 ABCG1 APOA1 APOA2 APOE
7 triglyceride metabolic process GO:0006641 9.91 APOA2 APOE CETP LPL
8 triglyceride homeostasis GO:0070328 9.91 APOA1 APOE CETP LPL
9 very-low-density lipoprotein particle remodeling GO:0034372 9.91 APOA1 APOE CETP LCAT LPL
10 low-density lipoprotein particle remodeling GO:0034374 9.91 ABCG1 APOA2 APOB APOE CETP LPA
11 triglyceride catabolic process GO:0019433 9.9 APOA1 APOB APOE LPL
12 lipid catabolic process GO:0016042 9.89 APOB LPL PLCG1
13 chylomicron remodeling GO:0034371 9.89 APOA1 APOA2 APOB APOE LPL
14 regulation of lipid metabolic process GO:0019216 9.88 ABCA1 APOA1 APOA2
15 positive regulation of cholesterol efflux GO:0010875 9.88 ABCA1 ABCG1 APOE PLTP
16 high-density lipoprotein particle assembly GO:0034380 9.88 ABCA1 APOA1 APOA2 APOE
17 lipoprotein biosynthetic process GO:0042158 9.88 ABCA1 APOA1 APOB APOE LCAT
18 phospholipid metabolic process GO:0006644 9.87 APOA1 LCAT LPL
19 chylomicron assembly GO:0034378 9.87 APOA1 APOA2 APOB APOE
20 phospholipid homeostasis GO:0055091 9.86 ABCA1 ABCG1 APOA1 CETP
21 cholesterol transport GO:0030301 9.86 ABCA1 ABCG1 APOA1 APOA2 APOB CETP
22 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
23 phosphatidylcholine metabolic process GO:0046470 9.82 APOA1 CETP LCAT
24 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.81 ABCA1 ABCG1 CETP
25 positive regulation of cholesterol esterification GO:0010873 9.81 APOA1 APOA2 APOE
26 high-density lipoprotein particle clearance GO:0034384 9.8 APOA1 APOA2 APOE
27 regulation of Cdc42 protein signal transduction GO:0032489 9.79 ABCA1 APOA1 APOE
28 low-density lipoprotein particle clearance GO:0034383 9.72 APOB NPC1
29 artery morphogenesis GO:0048844 9.72 APOB APOE
30 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.72 ABCA1 NPC1
31 phospholipid catabolic process GO:0009395 9.71 APOA2 PLCG1
32 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
33 positive regulation of lipid biosynthetic process GO:0046889 9.71 APOA1 APOE
34 neuron projection regeneration GO:0031102 9.7 APOA1 APOE
35 chylomicron remnant clearance GO:0034382 9.7 APOB APOE
36 regulation of cholesterol transport GO:0032374 9.7 APOA1 APOE
37 cholesterol efflux GO:0033344 9.7 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
38 intracellular cholesterol transport GO:0032367 9.69 ABCA1 ABCG1
39 positive regulation of cholesterol storage GO:0010886 9.69 APOB LPL
40 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
41 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 APOA1 APOA2
42 negative regulation of cholesterol storage GO:0010887 9.68 ABCA1 ABCG1
43 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
44 regulation of intestinal cholesterol absorption GO:0030300 9.67 APOA1 APOA2
45 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
46 lipoprotein catabolic process GO:0042159 9.67 APOB APOE
47 protein oxidation GO:0018158 9.66 APOA1 APOA2
48 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.66 APOA1 APOA2
49 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
50 high-density lipoprotein particle remodeling GO:0034375 9.5 ABCG1 APOA1 APOA2 APOE CETP LCAT
51 reverse cholesterol transport GO:0043691 9.17 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
52 lipid metabolic process GO:0006629 10.2 ABCA1 APOA1 APOB APOE CETP LCAT
53 lipid transport GO:0006869 10.1 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
54 steroid metabolic process GO:0008202 10.08 ABCA1 APOA1 APOB APOE CETP LCAT
55 cholesterol homeostasis GO:0042632 10.07 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
56 response to drug GO:0042493 10.04 ABCA1 APOA1 APOA2 LPL NPC1
57 post-translational protein modification GO:0043687 10.01 APOA1 APOA2 APOB APOE

Molecular functions related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 18, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 APOA1 APOA2 APOB APOE CETP PLTP
2 heparin binding GO:0008201 9.83 APOB APOE LPA LPL
3 phospholipid binding GO:0005543 9.8 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 cholesterol binding GO:0015485 9.7 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.67 APOA1 APOA2 CETP PLTP
6 phospholipid transporter activity GO:0005548 9.65 ABCA1 ABCG1 APOA1 CETP PLTP
7 apolipoprotein binding GO:0034185 9.63 ABCA1 LPA LPL
8 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOA1 APOA2 APOE
10 high-density lipoprotein particle binding GO:0008035 9.57 APOA1 APOA2
11 lipoprotein particle binding GO:0071813 9.56 APOA1 APOE
12 lipase inhibitor activity GO:0055102 9.55 APOA1 APOA2
13 apolipoprotein A-I binding GO:0034186 9.54 ABCA1 LCAT
14 high-density lipoprotein particle receptor binding GO:0070653 9.51 APOA1 APOA2
15 cholesterol transporter activity GO:0017127 9.5 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
16 apolipoprotein receptor binding GO:0034190 9.49 APOA1 APOA2
17 triglyceride binding GO:0017129 9.48 CETP LPL
18 lipid transporter activity GO:0005319 9.17 APOA1 APOA2 APOB APOE CETP NPC1

Sources for Tangier Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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