MCID: HRD039
MIFTS: 45

Hereditary Amyloidosis

Categories: Blood diseases, Bone diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Amyloidosis

MalaCards integrated aliases for Hereditary Amyloidosis:

Name: Hereditary Amyloidosis 20 58 29 6
Amyloidosis Hereditary 20 54
Familial Amyloidosis 20 36
Amyloidosis, Hereditary 70
Amyloidosis, Familial 70
Amyloidosis Familial 54

Classifications:



External Ids:

KEGG 36 H00845
UMLS via Orphanet 71 C0206246
Orphanet 58 ORPHA444116
UMLS 70 C0206246 C0740340

Summaries for Hereditary Amyloidosis

GARD : 20 Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examples of hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen A?-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.

MalaCards based summary : Hereditary Amyloidosis, also known as amyloidosis hereditary, is related to amyloidosis, finnish type and amyloidosis, hereditary, transthyretin-related. An important gene associated with Hereditary Amyloidosis is TTR (Transthyretin), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. The drugs Diflunisal and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and retina, and related phenotypes are cardiovascular system and homeostasis/metabolism

KEGG : 36 The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration that renders them avid for Congo red dye. In the familial amyloidoses, a gene mutation inherited in an autosomal-dominant manner results in a single amino acid substitution that renders a plasma protein amyloidogenic. Mutations in the TTR gene are the most common cause of familial amyloidosis. The clinical features of familial amyloidosis vary depending on the underlying amyloidogenic protein and the particular amino acid affected by the mutation, ranging from peripheral and autonomic neuropathy to cardiomyopathy.

Wikipedia : 73 Amyloids are aggregates of proteins characterised by a fibrillar morphology of 7-13 nm in diameter, a... more...

Related Diseases for Hereditary Amyloidosis

Diseases in the Amyloidosis family:

Al Amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Primary Localized Amyloidosis
Ah Amyloidosis

Diseases related to Hereditary Amyloidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 31.5 TTR GSN FURIN
2 amyloidosis, hereditary, transthyretin-related 31.4 TTR GSN B2M APOA2 APOA1
3 polyneuropathy 30.1 TTR GSN APOA2 APOA1
4 carpal tunnel syndrome 30.1 TTR B2M
5 blepharochalasis 30.1 TTR GSN
6 amyloidosis, familial visceral 29.9 TTR LYZ GSN FGA B2M APOA2
7 amyloidosis aa 29.7 TTR B2M APOA1
8 amyloid neuropathy 29.6 TTR GSN APOA1
9 al amyloidosis 29.5 TTR LYZ B2M
10 nephrotic syndrome 29.0 GSN FGA B2M APOA1
11 amyloidosis 28.7 TTR LYZ GSN FURIN FGA B2M
12 cerebral amyloid angiopathy, app-related 11.4
13 corneal dystrophy, gelatinous drop-like 11.2
14 amyloidosis, primary localized cutaneous, 1 11.2
15 peripheral nervous system disease 10.3
16 neuropathy 10.3
17 autonomic peripheral neuropathy 10.2 TTR GSN
18 pediatric multiple sclerosis 10.2 TTR GSN
19 lattice corneal dystrophy 10.1
20 amyloid tumor 10.1 TTR B2M
21 corneal dystrophy 10.1
22 nerve compression syndrome 10.1 TTR B2M
23 restrictive cardiomyopathy 10.1
24 deficiency anemia 10.0
25 familial lcat deficiency 10.0 APOA2 APOA1
26 cerebral amyloid angiopathy, itm2b-related, 1 10.0 GSN FURIN
27 leukodystrophy, hypomyelinating, 3 10.0 APOA2 APOA1
28 atrial standstill 1 10.0
29 autonomic neuropathy 10.0
30 hereditary transthyretin amyloidosis 10.0
31 familial amyloidosis, finnish type 10.0
32 lattice corneal dystrophy type ii 10.0
33 autonomic dysfunction 10.0
34 hypoalphalipoproteinemia 10.0 APOA2 APOA1
35 fish-eye disease 10.0 APOA2 APOA1
36 familial apolipoprotein c-ii deficiency 10.0 APOA2 APOA1
37 hyperlipoproteinemia, type iv 10.0 APOA2 APOA1
38 hyperlipoproteinemia, type i 10.0 APOA2 APOA1
39 amyloidosis, primary localized cutaneous, 3 10.0
40 second-degree atrioventricular block 10.0
41 sick sinus syndrome 10.0
42 cutis laxa 10.0
43 huntington disease-like 1 10.0 APOA2 APOA1
44 lecithin:cholesterol acyltransferase deficiency 9.9 APOA2 APOA1
45 hypobetalipoproteinemia, familial, 1 9.9 FURIN APOA1
46 hypolipoproteinemia 9.9 APOA2 APOA1
47 coronary heart disease 1 9.9 APOA2 APOA1
48 familial mediterranean fever 9.9
49 proteinuria, chronic benign 9.9
50 brucellosis 9.9

Graphical network of the top 20 diseases related to Hereditary Amyloidosis:



Diseases related to Hereditary Amyloidosis

Symptoms & Phenotypes for Hereditary Amyloidosis

MGI Mouse Phenotypes related to Hereditary Amyloidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 APOA1 B2M FGA FURIN GSN LYZ
2 homeostasis/metabolism MP:0005376 9.7 APOA1 APOA2 B2M FGA GSN LYZ
3 digestive/alimentary MP:0005381 9.65 B2M FGA FURIN LYZ TTR
4 integument MP:0010771 9.43 APOA1 B2M FGA FURIN GSN LYZ
5 liver/biliary system MP:0005370 9.02 APOA1 B2M FGA FURIN LYZ

Drugs & Therapeutics for Hereditary Amyloidosis

Drugs for Hereditary Amyloidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
2 Analgesics, Non-Narcotic Phase 2, Phase 3
3 Cyclooxygenase Inhibitors Phase 2, Phase 3
4 Antirheumatic Agents Phase 2, Phase 3
5 Anti-Inflammatory Agents Phase 2, Phase 3
6 Analgesics Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
8 Liver Extracts Phase 3
9
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
10
Tauroursodeoxycholic acid Experimental, Investigational Phase 1, Phase 2 14605-22-2 12443252
11 Antiparasitic Agents Phase 1, Phase 2
12 Antiviral Agents Phase 1, Phase 2
13 Anti-Bacterial Agents Phase 1, Phase 2
14 Antimalarials Phase 1, Phase 2
15 Anti-Infective Agents Phase 1, Phase 2
16 Antiprotozoal Agents Phase 1, Phase 2
17
Calcium polycarbophil Approved 126040-58-2
18 Gastrointestinal Agents
19 Cathartics
20 Psyllium
21 Laxatives
22 Plantain

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
2 An Open-label Study to Evaluate Safety, Efficacy and Pharmacokinetics (PK) of Patisiran-LNP in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) With Disease Progression Post-Orthotopic Liver Transplant Completed NCT03862807 Phase 3 Patisiran
3 A Phase 3 Multicenter, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ALN TTRSC in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3 Revusiran (ALN-TTRSC);Sterile Normal Saline (0.9% NaCl)
4 APOLLO: A Phase 3 Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Patisiran (ALN-TTR02) in Transthyretin (TTR)-Mediated Polyneuropathy (Familial Amyloidotic Polyneuropathy-FAP) Completed NCT01960348 Phase 3 patisiran (ALN-TTR02);Sterile Normal Saline (0.9% NaCl)
5 HELIOS-A: A Phase 3 Global, Randomized, Open-label Study to Evaluate the Efficacy and Safety of ALN-TTRSC02 in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Active, not recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
6 An 18 Month, Open Label Study of the Tolerability and Efficacy of a Combination of Doxycycline and Tauroursodeoxycholic Acid (TUDCA) in Patients With Transthyretin Amyloid Cardiomyopathy. Completed NCT01855360 Phase 1, Phase 2 Tauroursodeoxycholic Acid and Doxycycline
7 Efficacy of 308-nm Excimer Laser for Primary Localized Cutaneous Amyloidosis Treatment in Asians: Pilot Study Unknown status NCT03068156
8 Expanded Access Program for Inotersen (ISIS 420915) in Patients With Hereditary Transthyretin Amyloidosis (hATTR) Approved for marketing NCT03400098 Inotersen
9 Expanded Access Protocol of Patisiran for Patients With Hereditary Transthyretin-Mediated Amyloidosis (hATTR Amyloidosis) With Polyneuropathy Approved for marketing NCT02939820 patisiran (ALN-TTR02)
10 Cross-sectional, Non-interventional Burden Of Disease (Bod) Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (Ttr-fap) Or Transthyretin Cardiomyopathy (ttr-cm) And Caregivers Completed NCT01604122
11 Effect of Psyllium (Plantago Ovata) on Digestive Disorders in Familial Amyloidosis Not yet recruiting NCT04695340

Search NIH Clinical Center for Hereditary Amyloidosis

Genetic Tests for Hereditary Amyloidosis

Genetic tests related to Hereditary Amyloidosis:

# Genetic test Affiliating Genes
1 Hereditary Amyloidosis 29

Anatomical Context for Hereditary Amyloidosis

MalaCards organs/tissues related to Hereditary Amyloidosis:

40
Liver, Bone Marrow, Retina, Small Intestine, Endothelial

Publications for Hereditary Amyloidosis

Articles related to Hereditary Amyloidosis:

(show top 50) (show all 643)
# Title Authors PMID Year
1
Investigation of AGE, their receptor and NF-kappaB activation and apoptosis in patients with ATTR and Gelsolin amyloidosis. 61 54
20376775 2010
2
The 8 and 5 kDa fragments of plasma gelsolin form amyloid fibrils by a nucleated polymerization mechanism, while the 68 kDa fragment is not amyloidogenic. 61 54
19904968 2009
3
Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity. 61 54
19861125 2009
4
Ca2+ binding by domain 2 plays a critical role in the activation and stabilization of gelsolin. 54 61
19666512 2009
5
Anesthetic management of a combined heart and liver transplantation in an amyloidotic patient: a case report. 61 54
17889217 2007
6
Acidic pH-induced conformational changes in amyloidogenic mutant transthyretin. 54 61
17196219 2007
7
Current treatment in cardiac amyloidosis. 54 61
17078911 2006
8
Familial systemic amyloidosis associated with bilateral sensorineural hearing loss and bilateral facial palsies. 61 54
16870032 2006
9
[Application to transthyretin analysis]. 54 61
16872010 2006
10
Differential post-translational modifications of transthyretin in Alzheimer's disease: a study of the cerebral spinal fluid. 61 54
16552785 2006
11
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. 61 54
16258946 2006
12
A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. 61 54
16011990 2005
13
Identification of transthyretin variants by sequential proteomic and genomic analysis. 54 61
15217993 2004
14
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. 61 54
15131802 2004
15
Pathological and functional amyloid formation orchestrated by the secretory pathway. 61 54
14675544 2003
16
Gelsolin domain 2 Ca2+ affinity determines susceptibility to furin proteolysis and familial amyloidosis of finnish type. 61 54
14596804 2003
17
Fibrillogenesis in gelsolin-related familial amyloidosis. 54 61
14640038 2003
18
Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). 61 54
12832749 2003
19
Advanced glycation end products (AGE) and the receptor for AGE are present in gastrointestinal tract of familial amyloidotic polyneuropathy patients but do not induce NF-kappaB activation. 54 61
12410391 2002
20
Role of proprotein convertases in the pathogenic processing of the amyloidosis-associated form of secretory gelsolin. 61 54
12440480 2002
21
Peptides corresponding to gelsolin derived amyloid of the finnish type (AGelFIN) adopt two distinct forms in solution of which only one can polymerize into amyloid fibrils and form complexes with apoE. 54 61
12440479 2002
22
99mTc-DPD scintigraphy in transthyretin-related familial amyloidotic polyneuropathy. 54 61
12002714 2002
23
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. 54 61
11849445 2002
24
Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization. 61 54
11707399 2001
25
Destabilization of Ca2+-free gelsolin may not be responsible for proteolysis in Familial Amyloidosis of Finnish Type. 54 61
11226240 2001
26
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). 61 54
11226199 2001
27
Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment. 61 54
11261421 2001
28
Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. 61 54
11132096 2000
29
Liver transplantation for hereditary transthyretin amyloidosis. 61 54
10827225 2000
30
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. 61 54
10729296 2000
31
Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type). 54 61
10767822 2000
32
Pupil abnormality in amyloidosis with autonomic neuropathy. 61 54
10567509 1999
33
Functional consequences of amyloidosis mutation for gelsolin polypeptide -- analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts. 54 61
10431814 1999
34
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 61 54
10439117 1999
35
The amyloidogenicity of gelsolin is controlled by proteolysis and pH. 61 54
10322122 1999
36
Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. 54 61
9916936 1999
37
Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: regression of visceral amyloid following liver transplantation. 54 61
9662592 1998
38
Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis. 61 54
9632693 1998
39
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. 61 54
9605286 1998
40
Identification of the circulating amyloid precursor and other gelsolin metabolites in patients with G654A mutation in the gelsolin gene (Finnish familial amyloidosis): pathogenetic and diagnostic implications. 54 61
9354764 1997
41
Transthyretin amyloidosis: a new mutation associated with dementia. 54 61
9066351 1997
42
Screening and biochemical characterization of transthyretin variants in the Portuguese population. 54 61
9090525 1997
43
Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). 61 54
8913196 1996
44
The premortem recognition of systemic senile amyloidosis with cardiac involvement. 54 61
8873510 1996
45
Thyroxine binding to transthyretin (TTR) variants--two variants (TTR Pro 55 and TTR Met 111) with a particularly low binding affinity. 61 54
8810738 1996
46
Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. 54 61
8675681 1996
47
Ageing and amyloid fibrillogenesis: lessons from apolipoprotein AI, transthyretin and islet amyloid polypeptide. 54 61
8915612 1996
48
Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. 54 61
7474944 1995
49
Apolipoprotein E increases the fibrillogenic potential of synthetic peptides derived from Alzheimer's, gelsolin and AA amyloids. 54 61
7672107 1995
50
Haplotype analysis of common transthyretin mutations. 54 61
7649556 1995

Variations for Hereditary Amyloidosis

ClinVar genetic disease variations for Hereditary Amyloidosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTR NM_000371.4(TTR):c.277A>G (p.Ile93Val) SNV Pathogenic 803482 rs1598845164 GRCh37: 18:29175159-29175159
GRCh38: 18:31595196-31595196

Expression for Hereditary Amyloidosis

Search GEO for disease gene expression data for Hereditary Amyloidosis.

Pathways for Hereditary Amyloidosis

Pathways related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 TTR LYZ GSN FURIN FGA B2M
2
Show member pathways
12.59 TTR LYZ GSN FURIN FGA B2M
3
Show member pathways
12.21 TTR APOA2 APOA1
4
Show member pathways
12.12 FURIN APOA2 APOA1
5
Show member pathways
11.83 TTR APOA2 APOA1
6 11.34 APOA2 APOA1
7 11.01 TTR APOA1
8 10.67 APOA2 APOA1
9 10.43 APOA2 APOA1

GO Terms for Hereditary Amyloidosis

Cellular components related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 TTR LYZ GSN FURIN FGA B2M
2 cell surface GO:0009986 9.76 FURIN FGA B2M APOA1
3 endoplasmic reticulum lumen GO:0005788 9.62 FGA B2M APOA2 APOA1
4 extracellular region GO:0005576 9.56 TTR LYZ GSN FURIN FGA B2M
5 specific granule lumen GO:0035580 9.51 LYZ B2M
6 tertiary granule lumen GO:1904724 9.49 LYZ B2M
7 high-density lipoprotein particle GO:0034364 9.48 APOA2 APOA1
8 blood microparticle GO:0072562 9.46 GSN FGA APOA2 APOA1
9 very-low-density lipoprotein particle GO:0034361 9.43 APOA2 APOA1
10 chylomicron GO:0042627 9.4 APOA2 APOA1
11 spherical high-density lipoprotein particle GO:0034366 9.37 APOA2 APOA1
12 extracellular exosome GO:0070062 9.23 TTR LYZ GSN FURIN FGA B2M

Biological processes related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 TTR LYZ GSN B2M
2 post-translational protein modification GO:0043687 9.81 FGA APOA2 APOA1
3 extracellular matrix organization GO:0030198 9.78 TTR FURIN FGA
4 extracellular matrix disassembly GO:0022617 9.64 GSN FURIN
5 intermembrane lipid transfer GO:0120009 9.63 APOA2 APOA1
6 positive regulation of phagocytosis GO:0050766 9.62 APOA2 APOA1
7 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.62 FGA APOA1
8 retina homeostasis GO:0001895 9.61 LYZ B2M
9 phosphatidylcholine biosynthetic process GO:0006656 9.6 APOA2 APOA1
10 cholesterol efflux GO:0033344 9.59 APOA2 APOA1
11 lipoprotein metabolic process GO:0042157 9.58 APOA2 APOA1
12 cholesterol transport GO:0030301 9.58 APOA2 APOA1
13 reverse cholesterol transport GO:0043691 9.57 APOA2 APOA1
14 high-density lipoprotein particle remodeling GO:0034375 9.56 APOA2 APOA1
15 high-density lipoprotein particle assembly GO:0034380 9.54 APOA2 APOA1
16 amyloid fibril formation GO:1990000 9.52 GSN B2M
17 phospholipid efflux GO:0033700 9.51 APOA2 APOA1
18 chylomicron assembly GO:0034378 9.49 APOA2 APOA1
19 high-density lipoprotein particle clearance GO:0034384 9.48 APOA2 APOA1
20 chylomicron remodeling GO:0034371 9.46 APOA2 APOA1
21 positive regulation of cholesterol esterification GO:0010873 9.43 APOA2 APOA1
22 retinoid metabolic process GO:0001523 9.43 TTR APOA2 APOA1
23 peptidyl-methionine modification GO:0018206 9.4 APOA2 APOA1
24 negative regulation of cytokine production involved in immune response GO:0002719 9.37 APOA2 APOA1
25 protein oxidation GO:0018158 9.32 APOA2 APOA1
26 cellular protein metabolic process GO:0044267 9.23 TTR LYZ GSN FURIN FGA B2M
27 negative regulation of lipase activity GO:0060192 9.16 APOA2 APOA1
28 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 8.96 APOA2 APOA1

Molecular functions related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.65 FGA APOA2 APOA1
2 heat shock protein binding GO:0031072 9.49 APOA2 APOA1
3 cholesterol binding GO:0015485 9.46 APOA2 APOA1
4 phosphatidylcholine binding GO:0031210 9.43 APOA2 APOA1
5 lipid transporter activity GO:0005319 9.4 APOA2 APOA1
6 intermembrane cholesterol transfer activity GO:0120020 9.37 APOA2 APOA1
7 high-density lipoprotein particle binding GO:0008035 9.32 APOA2 APOA1
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA2 APOA1
9 lipase inhibitor activity GO:0055102 9.16 APOA2 APOA1
10 high-density lipoprotein particle receptor binding GO:0070653 8.96 APOA2 APOA1
11 apolipoprotein receptor binding GO:0034190 8.62 APOA2 APOA1

Sources for Hereditary Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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