MCID: NRM003
MIFTS: 51

Norum Disease

Categories: Genetic diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Rare diseases

Aliases & Classifications for Norum Disease

MalaCards integrated aliases for Norum Disease:

Name: Norum Disease 54 12 24 56 71 29 13 14
Lecithin Cholesterol Acyltransferase Deficiency 24 52 42
Lcat Deficiency 24 56 52
Lecithin:cholesterol Acyltransferase Deficiency 12 71
Lecithin-Cholesterol Acyltransferase Deficiency 56 71
Lecithin Acyltransferase Deficiency 12 69
Familial Lcat Deficiency 56 71
Fish-Eye Disease 24 69
Fld 56 71
Lecithin-Cholesterol Acyltransferase 13
Complete Lcat Deficiency 56
Lcatd 71

Characteristics:

Orphanet epidemiological data:

56
lcat deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;
familial lcat deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
norum disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Norum Disease

UniProtKB/Swiss-Prot : 71 Lecithin-cholesterol acyltransferase deficiency: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

MalaCards based summary : Norum Disease, also known as lecithin cholesterol acyltransferase deficiency, is related to fish-eye disease and familial lcat deficiency, and has symptoms including hypertriglyceridemia, hepatomegaly and splenomegaly. An important gene associated with Norum Disease is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Lecithin and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and bone marrow, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

OMIM : 54
Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. (245900)

Wikipedia : 72 Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein... more...

Related Diseases for Norum Disease

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

(show top 50) (show all 60)
id Related Disease Score Top Affiliating Genes
1 fish-eye disease 25.9 ALB APOA1 APOA2 APOB APOC2 APOC3
2 familial lcat deficiency 11.0
3 sea-blue histiocyte disease 10.9
4 aquagenic syringeal acrokeratoderm 10.7 APOA1 LCAT
5 xk aprosencephaly 10.6 APOB APOE
6 lipoprotein glomerulopathy 10.6 APOE LCAT
7 short stature, brachydactyly, intellectual developmental disability, and seizures 10.6 APOA1 APOA2 LCAT
8 pars planitis 10.5 APOA1 APOE
9 amelogenesis imperfecta, type iia3 10.5 APOA1 APOE LPL
10 amyloidosis nodular localized cutaneous 10.5 APOA1 LCAT LPA
11 fetal parvovirus syndrome 10.5 APOA1 APOB LCAT
12 hereditary congenital facial paresis 10.4 APOA1 APOA2
13 immunodeficiency 19 10.4 APOC2 APOE LPL
14 dental anomalies and short stature 10.4 APOA1 APOB LPA
15 afibrinogenemia, congenital 10.4 APOA1 APOA2 LPA
16 abducens nerve neoplasm 10.4 APOB APOC2 LPL
17 cataract, autosomal dominant congenital 4 10.4 APOB APOE
18 atopic dermatitis 3 10.3 APOC3 LPA
19 islet cell tumor 10.3 APOA1 APOB APOE LPL
20 glossopharyngeal nerve disease 10.3 APOA1 APOB APOE LPA
21 female infertility of uterine origin 10.3 ALB LCAT
22 cirrhotic cardiomyopathy 10.3 APOE LPL
23 hypercholesterolemia, due to ligand-defective apo b 10.3 APOB APOE LDLR
24 pontocerebellar hypoplasia 10.2 APOA1 APOB APOE CETP
25 myelophthisic anemia 10.2 APOA1 APOB APOE LPA
26 migraine with or without aura 1 10.1 APOA1 APOA2 APOB APOE LPA
27 otospondylomegaepiphyseal dysplasia 10.1 APOA1 APOB
28 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 10.1 APOB APOE LCAT LDLR
29 hypobetalipoproteinemia 10.1 APOB APOE LCAT LDLR
30 angina pectoris 10.0 ALB APOA1 APOB LPA
31 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 10.0 APOB APOE LDLR LPL
32 familial osteochondritis dissecans 10.0 ALB APOA1 APOA2 APOE LCAT
33 intramuscular hemangioma 9.9 ALB APOC3 LPL
34 malignant type ab thymoma 9.9 APOA1 APOB APOE LDLR
35 arthritis 9.9 APOE CETP LDLR LPA
36 wolfram syndrome 2 9.8 APOA1 APOB APOE CETP LCAT LPL
37 melorheostosis 9.8 ALB APOA1 APOB APOE CETP
38 malignant fibrous histiocytoma of bone 9.8 APOB APOE LDLR LPA LPL
39 hypertension, essential 9.8 ALB APOA1 APOB LPA LPL
40 bird fancier's lung 9.7 APOA1 APOA2 APOB APOE LCAT LPA
41 autoimmune hepatitis 9.6 APOB APOC2 APOE LDLR LPA
42 mental retardation, autosomal dominant 45 9.6 APOA2 APOB APOE LCAT LDLR LPA
43 hepatic adenoma, somatic 9.4 ALB APOA1 APOB CETP LPA LPL
44 hyperlipidemia, familial combined 9.4 APOA1 APOA2 APOB APOC3 APOE CETP
45 alzheimer disease-2 9.3 APOA1 APOB APOE CETP LDLR LPA
46 pericarditis 9.2 APOA1 APOB APOE CETP LDLR LPA
47 chondrocalcinosis with early-onset osteoarthritis 9.2 APOA1 APOB APOC3 APOE CETP LCAT
48 obesity, hyperphagia, and developmental delay 9.2 ALB APOA1 APOA2 APOB APOE CETP
49 hyperchylomicronemia, late-onset 9.1 APOA1 APOA2 APOB APOC2 APOC3 APOE
50 von hippel-lindau syndrome 9.1 APOA1 APOB APOC3 APOE CETP LCAT

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



Diseases related to Norum Disease

Symptoms & Phenotypes for Norum Disease

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
renal failure

Head And Neck- Eyes:
corneal opacities
corneal lipid deposits

Laboratory- Abnormalities:
proteinuria
decreased plasma esterified cholesterol
decreased apoa-i and apoa-ii
decreased plasma hdl (<1/10 of normal levels)
increased plasma free cholesterol
more
Hematology:
hemolytic anemia
normochromic anemia


Clinical features from OMIM:

245900

Human phenotypes related to Norum Disease:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002155
2 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
4 hematuria 56 32 frequent (33%) Frequent (79-30%) HP:0000790
5 proteinuria 56 32 frequent (33%) Frequent (79-30%) HP:0000093
6 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
7 hemolytic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001878
8 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
9 atherosclerosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002621
10 lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002716
11 visual loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0000572
12 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
13 normochromic anemia 32 HP:0001895
14 hypoalphalipoproteinemia 32 HP:0003233
15 opacification of the corneal stroma 32 HP:0007759

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.56 APOA1 APOB APOC3 APOE CETP LDLR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Norum Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 APOC2 APOE CSF1R DHX40 EPB41 LCAT
2 endocrine/exocrine gland MP:0005379 9.76 ALB APOA1 APOE CSF1R IGBP1 LCAT
3 liver/biliary system MP:0005370 9.28 ALB APOA1 APOB APOE EPB41 LCAT

Drugs & Therapeutics for Norum Disease

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Lecithin Nutraceutical Phase 1
2
Adenosine Approved, Investigational 58-61-7 60961
3 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease Completed NCT01554800 Phase 1 ACP-501
2 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 3H-cholesterol bound to albumin

Search NIH Clinical Center for Norum Disease

Cochrane evidence based reviews: lecithin cholesterol acyltransferase deficiency

Genetic Tests for Norum Disease

Genetic tests related to Norum Disease:

id Genetic test Affiliating Genes
1 Norum Disease 29
2 Lecithin Cholesterol Acyltransferase Deficiency 24 LCAT

Anatomical Context for Norum Disease

MalaCards organs/tissues related to Norum Disease:

39
Eye, Bone, Bone Marrow

Publications for Norum Disease

Variations for Norum Disease

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

71 (show all 22)
id Symbol AA change Variation ID SNP ID
1 LCAT p.Gly54Ser VAR_004253
2 LCAT p.Gly57Arg VAR_004254
3 LCAT p.Ala117Thr VAR_004255 rs28940886
4 LCAT p.Arg159Trp VAR_004257 rs28940887
5 LCAT p.Arg164His VAR_004258 rs769485083
6 LCAT p.Arg171Trp VAR_004259
7 LCAT p.Tyr180Asn VAR_004260 rs749740660
8 LCAT p.Leu233Pro VAR_004262 rs28942087
9 LCAT p.Asn252Lys VAR_004263 rs121908049
10 LCAT p.Met317Ile VAR_004265 rs121908048
11 LCAT p.Thr345Met VAR_004266 rs28940888
12 LCAT p.Asn29Ile VAR_039020
13 LCAT p.Thr37Met VAR_039022
14 LCAT p.Arg164Cys VAR_039028
15 LCAT p.Ser205Asn VAR_039030
16 LCAT p.Lys242Asn VAR_039031
17 LCAT p.Arg268His VAR_039032 rs780824776
18 LCAT p.Thr298Ala VAR_039033
19 LCAT p.Thr298Ile VAR_039034
20 LCAT p.Pro331Ser VAR_039035
21 LCAT p.Val333Met VAR_039036 rs776035233
22 LCAT p.Phe406Val VAR_039038

ClinVar genetic disease variations for Norum Disease:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh37 Chromosome 16, 67976589: 67976589
2 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh37 Chromosome 16, 67974179: 67974179
3 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh38 Chromosome 16, 67942701: 67942702
4 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh37 Chromosome 16, 67974374: 67974374
5 LCAT NM_000229.1(LCAT): c.440C> T (p.Thr147Ile) single nucleotide variant Pathogenic rs121908050 GRCh37 Chromosome 16, 67976657: 67976657
6 LCAT LCAT, 1-BP INS, EX1 insertion Pathogenic
7 LCAT NM_000229.1(LCAT): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs121908051 GRCh37 Chromosome 16, 67977904: 67977904
8 LCAT NM_000229.1(LCAT): c.1112C> T (p.Thr371Met) single nucleotide variant Pathogenic rs121908053 GRCh37 Chromosome 16, 67974018: 67974018
9 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh37 Chromosome 16, 67974303: 67974303
10 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh37 Chromosome 16, 67976316: 67976316
11 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh37 Chromosome 16, 67976622: 67976622
12 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh38 Chromosome 16, 67940030: 67940030
13 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh37 Chromosome 16, 67974096: 67974096
14 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh37 Chromosome 16, 67976870: 67976870
15 LCAT NM_000229.1(LCAT): c.970_972delCTC (p.Leu325del) deletion Pathogenic rs121908056 GRCh37 Chromosome 16, 67974158: 67974160
16 LCAT NM_000229.1(LCAT): c.463A> G (p.Asn155Asp) single nucleotide variant Pathogenic rs121908057 GRCh37 Chromosome 16, 67976634: 67976634
17 LCAT NM_000229.1(LCAT): c.524-22T> C single nucleotide variant Pathogenic rs794726664 GRCh38 Chromosome 16, 67942609: 67942609

Expression for Norum Disease

Search GEO for disease gene expression data for Norum Disease.

Pathways for Norum Disease

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ALB APOA1 APOA2 APOB APOC2 APOC3
2
Show member pathways
12.47 APOA1 APOA2 APOB APOC2 APOC3 APOE
3
Show member pathways
12.3 ALB APOA1 APOA2 APOB APOC2 APOC3
4
Show member pathways
12.09 APOA1 APOA2 APOB APOC2 APOC3 APOE
5 11.77 ALB APOA1 APOE
6
Show member pathways
11.75 ALB APOA1 APOB APOE
7 11.48 APOA1 APOA2 APOC3 LPL
8
Show member pathways
11.28 APOA1 APOB NPC1L1
9
Show member pathways
11.15 APOA1 APOA2 APOB APOC2 APOC3 APOE
10 11 APOA1 APOA2 APOC3
11 10.76 APOA1 APOA2

GO Terms for Norum Disease

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.95 APOA1 APOA2 APOB APOC2 APOC3 APOE
2 endoplasmic reticulum lumen GO:0005788 9.91 ALB APOA1 APOA2 APOB APOE
3 blood microparticle GO:0072562 9.85 ALB APOA1 APOA2 APOE
4 high-density lipoprotein particle GO:0034364 9.73 APOA1 APOA2 APOC2 APOE CETP LCAT
5 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOB APOC2 APOE LDLR
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.71 APOB APOE LDLR
7 spherical high-density lipoprotein particle GO:0034366 9.67 APOA1 APOA2 APOC2 APOC3
8 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
9 extracellular matrix GO:0031012 9.56 APOE LPL
10 intermediate-density lipoprotein particle GO:0034363 9.55 APOA1 APOB APOC2 APOC3 APOE
11 very-low-density lipoprotein particle GO:0034361 9.5 APOA1 APOA2 APOB APOC2 APOC3 APOE
12 discoidal high-density lipoprotein particle GO:0034365 9.22 APOA1
13 chylomicron GO:0042627 9.17 APOA1 APOA2 APOB APOC2 APOC3 APOE
14 extracellular exosome GO:0070062 10.24 ALB APOA1 APOA2 APOB APOC2 APOC3
15 extracellular region GO:0005576 10.23 ALB APOA1 APOA2 APOB APOC2 APOC3
16 extracellular space GO:0005615 10.17 ALB APOA1 APOA2 APOB APOC2 APOC3

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

(show top 50) (show all 65)
id Name GO ID Score Top Affiliating Genes
1 cholesterol efflux GO:0033344 9.99 APOA1 APOA2 APOB APOC2 APOC3 APOE
2 triglyceride catabolic process GO:0019433 9.98 APOA1 APOB APOC3 APOE LPL
3 low-density lipoprotein particle remodeling GO:0034374 9.97 APOA2 APOB APOE CETP LPA
4 lipid catabolic process GO:0016042 9.96 APOB APOC2 APOC3 LPL
5 phospholipid efflux GO:0033700 9.96 APOA1 APOA2 APOC2 APOC3 APOE
6 chylomicron remnant clearance GO:0034382 9.93 APOB APOC2 APOC3 APOE LDLR
7 high-density lipoprotein particle remodeling GO:0034375 9.92 ALB APOA1 APOA2 APOC2 APOC3 APOE
8 chylomicron assembly GO:0034378 9.91 APOA1 APOA2 APOB APOC2 APOC3 APOE
9 positive regulation of catalytic activity GO:0043085 9.9 APOA2 APOC2 APOE
10 high-density lipoprotein particle clearance GO:0034384 9.9 APOA1 APOA2 APOC2 APOE
11 phospholipid metabolic process GO:0006644 9.89 APOA1 LCAT LPL
12 lipoprotein biosynthetic process GO:0042158 9.89 APOA1 APOB APOE LCAT
13 very-low-density lipoprotein particle remodeling GO:0034372 9.89 APOC2 APOE CETP LCAT LPL
14 phospholipid transport GO:0015914 9.86 APOA1 CETP LDLR
15 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
16 high-density lipoprotein particle assembly GO:0034380 9.81 APOA1 APOA2 APOE
17 positive regulation of cholesterol esterification GO:0010873 9.81 APOA1 APOA2 APOE
18 regulation of Cdc42 protein signal transduction GO:0032489 9.8 APOA1 APOC3 APOE
19 lipoprotein catabolic process GO:0042159 9.8 APOB APOE LDLR
20 cholesterol transport GO:0030301 9.8 APOA1 APOA2 APOB CETP LCAT LDLR
21 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
22 artery morphogenesis GO:0048844 9.74 APOB APOE
23 lipoprotein transport GO:0042953 9.73 APOB APOC2
24 negative regulation of lipid catabolic process GO:0050995 9.73 APOA2 APOC3
25 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
26 phosphatidylcholine metabolic process GO:0046470 9.73 CETP LCAT
27 positive regulation of fatty acid biosynthetic process GO:0045723 9.72 APOA1 APOC2
28 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
29 positive regulation of lipoprotein lipase activity GO:0051006 9.72 APOA1 APOC2
30 positive regulation of chemokine secretion GO:0090197 9.72 CSF1R LPL
31 phospholipid homeostasis GO:0055091 9.72 APOA1 CETP
32 intestinal cholesterol absorption GO:0030299 9.71 LDLR NPC1L1
33 positive regulation of triglyceride catabolic process GO:0010898 9.71 APOA1 APOC2
34 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
35 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
36 cholesterol import GO:0070508 9.7 APOA1 LDLR
37 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
38 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
39 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
40 lipoprotein metabolic process GO:0042157 9.7 APOA1 APOA2 APOB APOC3 APOE LDLR
41 negative regulation of receptor-mediated endocytosis GO:0048261 9.69 APOC2 APOC3
42 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
43 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.68 APOC2 APOC3
44 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
45 negative regulation of cholesterol transport GO:0032375 9.68 APOA2 APOC2
46 negative regulation of lipid metabolic process GO:0045833 9.67 APOC2 APOC3
47 protein oxidation GO:0018158 9.67 APOA1 APOA2
48 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.66 APOA2 APOC2
49 negative regulation of cholesterol import GO:0060621 9.65 APOA2 APOC3
50 reverse cholesterol transport GO:0043691 9.5 APOA1 APOA2 APOC2 APOC3 APOE CETP

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.86 ALB APOA1 APOA2 APOB APOC2 APOC3
2 heparin binding GO:0008201 9.81 APOB APOE LPA LPL
3 phospholipid binding GO:0005543 9.8 APOA1 APOA2 APOB APOC3 APOE
4 cholesterol binding GO:0015485 9.72 APOA1 APOA2 APOC3 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.63 APOA1 APOA2 CETP
6 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOA1 APOA2 APOE
7 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
8 apolipoprotein binding GO:0034185 9.57 LPA LPL
9 phospholipid transporter activity GO:0005548 9.56 APOA1 CETP
10 high-density lipoprotein particle binding GO:0008035 9.55 APOA1 APOA2
11 beta-amyloid binding GO:0001540 9.54 APOA1 APOE
12 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOA2 APOC3
13 lipoprotein particle binding GO:0071813 9.52 APOA1 APOE
14 apolipoprotein receptor binding GO:0034190 9.49 APOA1 APOA2
15 triglyceride binding GO:0017129 9.48 CETP LPL
16 lipase inhibitor activity GO:0055102 9.46 APOA1 APOA2 APOC2 APOC3
17 lipid transporter activity GO:0005319 9.35 APOA1 APOA2 APOB APOE CETP
18 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA2 APOB APOE CETP

Sources for Norum Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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