LCATD
MCID: NRM003
MIFTS: 51

Norum Disease (LCATD) malady

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

Aliases & Classifications for Norum Disease

Aliases & Descriptions for Norum Disease:

Name: Norum Disease 54 12 24 56 66 13 14
Lecithin:cholesterol Acyltransferase Deficiency 54 12 66
Lecithin Cholesterol Acyltransferase Deficiency 24 52 42
Lcat Deficiency 24 56 52
Lecithin-Cholesterol Acyltransferase Deficiency 56 66
Lecithin Acyltransferase Deficiency 12 69
Familial Lcat Deficiency 56 66
Fish-Eye Disease 24 69
Fld 56 66
Lecithin-Cholesterol Acyltransferase 13
Complete Lcat Deficiency 56
Norum's Disease 29
Lcatd 66

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;

HPO:

32
norum disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 245900
Disease Ontology 12 DOID:1391
ICD10 33 E78.6
MeSH 42 D007863
NCIt 47 C84813
SNOMED-CT 64 238091006 49227001
ICD10 via Orphanet 34 E78.6
MedGen 40 C0023195
UMLS 69 C0023195

Summaries for Norum Disease

UniProtKB/Swiss-Prot : 66 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 hypertension, splenomegaly and hepatomegaly. 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 acetic acid and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include eye, 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... (245900) more...

Wikipedia : 71 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 61)
id Related Disease Score Top Affiliating Genes
1 fish-eye disease 12.6
2 familial lcat deficiency 11.0
3 sea-blue histiocyte disease 10.9
4 arena syndrome 10.3 APOA1 LCAT
5 alport syndrome and thin basement membrane nephropathy 10.3 APOE LPL
6 zap-70 deficiency 10.3 APOB APOE
7 tyrosinemia, type ii 10.3 APOA1 APOA2 LCAT
8 lipoprotein glomerulopathy 10.2 APOE LCAT
9 fetal warfarin syndrome 10.2 APOA1 APOB LCAT
10 anaplastic ganglioglioma 10.2 APOA1 LCAT LPA
11 hyperchlorhidrosis, isolated 10.2 APOA1 APOE LPL
12 spinocerebellar ataxia 20 10.2 APOA1 APOB LPA
13 primary pigmented nodular adrenocortical disease 10.2 APOA1 APOB APOE
14 c1s deficiency 10.2 APOC2 APOE LPL
15 van maldergem syndrome 2 10.2 APOA1 APOA2 LPA
16 atopic dermatitis 4 10.2 APOC3 LPA
17 abducens nerve neoplasm 10.2 APOC2 LPL
18 keratoconus 4 10.1 APOB APOE LDLR
19 joint disorders 10.1 APOA1 APOB APOE LPL
20 optic nerve neoplasm 10.1 APOA1 APOB APOE LPA
21 malignant hyperthermia susceptibility 1 10.1 ALB APOB LPA
22 autosomal dominant microcephaly 10.1 EPB41 IGBP1
23 myelophthisic anemia 10.1 APOA1 APOB APOE LPA
24 fibrosarcoma of bone 10.1 APOB LDLR LPA
25 dentinogenesis imperfecta type 2 10.1 APOB APOE LCAT LDLR
26 hypercholesterolemia, due to ligand-defective apo b 10.1 APOB APOE LCAT LDLR
27 albinism, oculocutaneous, type v 10.1 APOA1 APOA2 APOB APOE LPA
28 pars planitis 10.1 APOA1 APOE
29 hard palate cancer 10.1 APOA1 APOA2 APOE
30 congenital chloride diarrhea 10.1 ALB APOA1 APOB LPA
31 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 10.1 APOB APOE LDLR LPL
32 cervix small cell carcinoma 10.0 APOA1 APOB APOE LDLR
33 bile duct mucoepidermoid carcinoma 10.0 ALB APOC3 LPL
34 asphyxia neonatorum 10.0 APOE LDLR LPA LPL
35 familial progressive cardiac conduction defect 10.0 ALB APOA1 APOA2 APOE LCAT
36 body dysmorphic disorder 10.0 ALB APOA1 APOB
37 bleeding disorder, east texas type 9.9 APOA1 APOA2 APOB APOC3 APOE LPL
38 alzheimer disease 19, late onset 9.9 APOA2 APOB APOE LCAT LDLR LPA
39 bird fancier's lung 9.9 APOA1 APOA2 APOB APOE LCAT LPA
40 dyserythropoietic anemia, congenital, type ii 9.9 APOA1 APOC2 APOC3 APOE LCAT LPA
41 gait apraxia 9.9 ALB APOA1 APOB APOE CETP
42 mannosidosis, beta 9.9 APOA1 APOB APOE CETP LCAT LPL
43 diabetes mellitus, insulin-dependent, 20 9.9 ALB APOA1 APOB LPA LPL
44 pericarditis 9.7 ALB APOA1 APOB APOE LDLR LPA
45 skin squamous cell carcinoma 9.7 APOA1 APOB APOE CETP LDLR LPA
46 neuropathy, hereditary sensory and autonomic, type ia 9.6 ALB APOA1 APOA2 APOB APOE CETP
47 chondrocalcinosis with early-onset osteoarthritis 9.6 APOA1 APOB APOC3 APOE CETP LCAT
48 autoimmune-related retinopathy and optic neuropathy 9.6 APOA1 APOB APOC2 APOE CETP LDLR
49 cataract 5, multiple types 9.5 APOA1 APOA2 APOB APOC3 APOE CETP
50 lipomatosis 9.5 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 by clinical synopsis from OMIM:

245900

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

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 ALB APOA1 APOA2 APOB APOC2 APOE
2 endocrine/exocrine gland MP:0005379 9.76 CSF1R IGBP1 LCAT LDLR NPC1L1 ALB
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):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved, Nutraceutical Phase 1 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
3 Adjuvants, Immunologic Phase 1
4 Micronutrients Phase 1
5 Protective Agents Phase 1
6
Retinol acetate Phase 1 127-47-9 10245972
7 Retinol palmitate Phase 1
8 Trace Elements Phase 1
9 Vitamins Phase 1
10 Lecithin Nutraceutical Phase 1
11 retinol Nutraceutical Phase 1
12
Adenosine Approved, Investigational 58-61-7 60961
13 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease Completed NCT01554800 Phase 1
2 Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations Completed NCT01014052 Phase 1
3 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1
4 Mendelian Reverse Cholesterol Transport Study Active, not recruiting NCT01782027

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

Publications for Norum Disease

Variations for Norum Disease

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

66 (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.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh37 Chromosome 16, 67976604: 67976605
2 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh37 Chromosome 16, 67976589: 67976589
3 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh37 Chromosome 16, 67974179: 67974179
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 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 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
12.1 ALB APOA1 APOB APOE LDLR
5
Show member pathways
12.09 APOA1 APOA2 APOB APOC2 APOC3 APOE
6 11.78 ALB APOA1 APOE
7
Show member pathways
11.77 ALB APOA1 APOB APOE
8 11.48 APOA1 APOA2 APOC3 LPL
9
Show member pathways
11.3 APOA1 APOB NPC1L1
10
Show member pathways
11.15 APOA1 APOA2 APOB APOC2 APOC3 APOE
11 11.02 APOA1 APOA2 APOC3
12 10.77 APOA1 APOA2

GO Terms for Norum Disease

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

(show all 14)
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 9.84 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 9.7 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 intermediate-density lipoprotein particle GO:0034363 9.55 APOA1 APOB APOC2 APOC3 APOE
10 chylomicron GO:0042627 9.5 APOA1 APOA2 APOB APOC2 APOC3 APOE
11 very-low-density lipoprotein particle GO:0034361 9.17 APOA1 APOA2 APOB APOC2 APOC3 APOE
12 extracellular exosome GO:0070062 10.24 ALB APOA1 APOA2 APOB APOC2 APOC3
13 extracellular region GO:0005576 10.23 ALB APOA1 APOA2 APOB APOC2 APOC3
14 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 64)
id Name GO ID Score Top Affiliating Genes
1 triglyceride catabolic process GO:0019433 9.99 APOA1 APOB APOC3 APOE LPL
2 cholesterol efflux GO:0033344 9.99 APOA1 APOA2 APOB APOC2 APOC3 APOE
3 low-density lipoprotein particle remodeling GO:0034374 9.97 APOA2 APOB APOE CETP LPA
4 phospholipid efflux GO:0033700 9.97 APOA1 APOA2 APOC2 APOC3 APOE
5 lipid catabolic process GO:0016042 9.96 APOB APOC2 APOC3 LPL
6 lipoprotein biosynthetic process GO:0042158 9.96 APOA1 APOA2 APOB APOE LCAT
7 chylomicron remnant clearance GO:0034382 9.93 APOB APOC2 APOC3 APOE LDLR
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 very-low-density lipoprotein particle remodeling GO:0034372 9.89 APOC2 APOE CETP LCAT LPL
13 high-density lipoprotein particle remodeling GO:0034375 9.86 ALB APOA1 APOA2 APOC2 APOC3 APOE
14 phospholipid transport GO:0015914 9.85 APOA1 CETP LDLR
15 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
16 high-density lipoprotein particle assembly GO:0034380 9.82 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 9.79 APOB APOE LDLR
20 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
21 artery morphogenesis GO:0048844 9.73 APOB APOE
22 negative regulation of lipid catabolic process GO:0050995 9.73 APOA2 APOC3
23 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
24 lipoprotein transport GO:0042953 9.73 APOB APOC2
25 phosphatidylcholine metabolic process GO:0046470 9.73 CETP LCAT
26 positive regulation of fatty acid biosynthetic process GO:0045723 9.72 APOA1 APOC2
27 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
28 positive regulation of lipoprotein lipase activity GO:0051006 9.72 APOA1 APOC2
29 positive regulation of chemokine secretion GO:0090197 9.72 CSF1R LPL
30 phospholipid homeostasis GO:0055091 9.72 APOA1 CETP
31 intestinal cholesterol absorption GO:0030299 9.71 LDLR NPC1L1
32 positive regulation of triglyceride catabolic process GO:0010898 9.71 APOA1 APOC2
33 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
34 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
35 negative regulation of receptor-mediated endocytosis GO:0048261 9.7 APOC2 APOC3
36 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
37 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
38 cholesterol import GO:0070508 9.7 APOA1 LDLR
39 reverse cholesterol transport GO:0043691 9.7 APOA1 APOA2 APOC2 APOC3 APOE CETP
40 very-low-density lipoprotein particle clearance GO:0034447 9.69 APOB APOE
41 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
42 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.68 APOC2 APOC3
43 negative regulation of cholesterol transport GO:0032375 9.68 APOA2 APOC2
44 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
45 negative regulation of lipid metabolic process GO:0045833 9.68 APOC2 APOC3
46 protein oxidation GO:0018158 9.67 APOA1 APOA2
47 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.66 APOA2 APOC2
48 negative regulation of cholesterol import GO:0060621 9.65 APOA2 APOC3
49 cholesterol transport GO:0030301 9.5 APOA1 APOA2 APOB CETP LCAT LDLR
50 chylomicron remodeling GO:0034371 9.17 APOA1 APOA2 APOB APOC2 APOC3 APOE

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

(show all 17)
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 9.57 APOB APOE
8 apolipoprotein binding GO:0034185 9.56 LPA LPL
9 phospholipid transporter activity GO:0005548 9.55 APOA1 CETP
10 high-density lipoprotein particle binding GO:0008035 9.54 APOA1 APOA2
11 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOA2 APOC3
12 lipoprotein particle binding GO:0071813 9.52 APOA1 APOE
13 apolipoprotein receptor binding GO:0034190 9.49 APOA1 APOA2
14 triglyceride binding GO:0017129 9.48 CETP LPL
15 lipase inhibitor activity GO:0055102 9.46 APOA1 APOA2 APOC2 APOC3
16 lipid transporter activity GO:0005319 9.35 APOA1 APOA2 APOB APOE CETP
17 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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