MCID: TRN001
MIFTS: 64

Transthyretin Amyloidosis malady

Neuronal diseases, Bone diseases, Cardiovascular diseases, Genetic diseases categories

Summaries for Transthyretin Amyloidosis

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.

MalaCards: Transthyretin Amyloidosis, also known as amyloidosis, hereditary, transthyretin-related, is related to amyloidosis and familial transthyretin amyloidosis. An important gene associated with Transthyretin Amyloidosis is TTR (transthyretin), and among its related pathways are Visual phototransduction and Visual Cycle in Retinal Rods. The compounds purpurin and thioflavin t have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, and related mouse phenotypes are homeostasis/metabolism and muscle.

Wikipedia:63 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...

Description from OMIM:46 105210

Aliases & Classifications for Transthyretin Amyloidosis

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8Disease Ontology, 21Genetics Home Reference, 9diseasecard, 46OMIM, 60UMLS, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
transthyretin amyloid polyneuropathy:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Adult
transthyretin-related familial amyloid cardiomyopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

transthyretin amyloidosis 8 21
amyloidosis, hereditary, transthyretin-related 8 9 46 60
type i familial amyloid polyneuropathy 21 44
transthyretin-related familial amyloid cardiomyopathy 48
familial amyloid neuropathy, portuguese type 60
portuguese type familial amyloid neuropathy 21
type ii familial amyloid polyneuropathy 21
transthyretin amyloid polyneuropathy 48
portuguese polyneuritic amyloidosis 21
amyloid polyneuropathy, swiss type 60
ttr-related amyloid cardiomyopathy 48
swiss type amyloid polyneuropathy 21
transthyretin amyloid cardiopathy 48
transthyretin amyloid neuropathy 48
familial amyloid polyneuropathy 48
ttr-related cardiac amyloidosis 48
ttr amyloid neuropathy 48
attr cardiomyopathy 48


External Ids:

Disease Ontology8 DOID:0050638
OMIM46 105210
ICD10 via Orphanet26 E85.1, E85.0
SNOMED-CT via Orphanet57 42295001

Related Diseases for Transthyretin Amyloidosis

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17GeneCards, 18GeneDecks
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Diseases in the Transthyretin Amyloidosis family:

Familial Transthyretin Amyloidosis

Diseases related to Transthyretin Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.5TTR, CLU, SNCA, RBP4, NPPB
2familial transthyretin amyloidosis31.3TTR
3polyneuropathy30.4TTR, RBP4
4diabetes mellitus30.2RBP4, NPPB
5hepatitis30.1TTR
6spinocerebellar ataxia30.1ATXN1, SNCA
7dementia30.1CLU, SNCA
8carpal tunnel syndrome10.4
9lattice corneal dystrophy10.4
10cerebritis10.3
11cerebral amyloid angiopathy10.3
12corneal dystrophy10.3
13familial amyloid polyneuropathy type ii10.3
14finnish type amyloidosis10.3
15familial amyloidosis, finnish type10.3
16familial amyloid polyneuropathy type 110.3
17lattice corneal dystrophy type ii10.3
18neuropathy10.2
19hereditary amyloidosis10.2
20machado-joseph disease10.1
21hepatitis c10.1
22diabetic polyneuropathy10.1
23neuronitis10.1
24hereditary neuropathy with liability to pressure palsies10.1
25lattice corneal dystrophy type 110.1
26lattice corneal dystrophy type 3a10.1
27siderosis10.1
28hepatitis a10.1
29autonomic neuropathy10.1
30diarrhea10.1
31liver disease10.1
32mononeuropathy10.1
33peripheral neuropathy10.1
34amyotrophic lateral sclerosis 2, juvenile10.1
35senile systemic amyloidosis10.1
36hypothyroidism10.0TTR
37myositis10.0SNCA
38cholestasis10.0RBP4
39blindness10.0CLU
40polycystic ovary syndrome10.0RBP4
41parkinson's disease10.0SNCA
42obesity10.0RBP4
43keratomalacia10.0TTR, RBP4
44hypervitaminosis a10.0TTR, RBP4
45pure autonomic failure10.0SNCA, TTR
46insulin resistance10.0TTR, RBP4
47protein-energy malnutrition10.0RBP4, TTR
48hypertension10.0NPPB
49liver cirrhosis10.0RBP4, TTR
50spinocerebellar ataxia type 310.0ATXN1, SNCA

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



Diseases related to transthyretin amyloidosis

Clinical Features for Transthyretin Amyloidosis

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46OMIM
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Clinical features from OMIM:

105210

Clinical synopsis from OMIM:

105210

Drugs & Therapeutics for Transthyretin Amyloidosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Transthyretin Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Transthyretin Amyloidosis

Search NIH Clinical Center for Transthyretin Amyloidosis

Search CenterWatch for Transthyretin Amyloidosis

Genetic Tests for Transthyretin Amyloidosis

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Anatomical Context for Transthyretin Amyloidosis

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32MalaCards
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MalaCards organs/tissues related to Transthyretin Amyloidosis:

32
Heart, Kidney, Brain, Spinal cord, Eye, Liver, Bone, Testes, Skin, Thyroid, Endothelial

Animal Models for Transthyretin Amyloidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Transthyretin Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9TTR, CLU, ATXN1, SNCA, RBP4
2MP:00053697.8CLU, ATXN1, RBP4, NPPB

Publications for Transthyretin Amyloidosis

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50PubMed
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Articles related to Transthyretin Amyloidosis:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Skeletal scintigraphy in patients with transthyretin-related amyloidosis. (24360159)
2014
2
Derivatization strategies for CE-LIF analysis of biomarkers: towards a clinical diagnostic of familial transthyretin amyloidosis. (24254376)
2013
3
Transthyretin amyloidosis with pulmonary involvement in a patient with monoclonal gammapathy. (24142783)
2013
4
(99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. (23400849)
2013
5
Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis. (23964755)
2013
6
Guideline of transthyretin-related hereditary amyloidosis for clinicians. (23425518)
2013
7
Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. (23438977)
2013
8
Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. (24101373)
2013
9
Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families. (23901247)
2013
10
I+-Synuclein aggregation in the saliva of familial transthyretin amyloidosis: a potential biomarker. (22591216)
2012
11
Pathogenesis of transthyretin amyloidosis. (22452550)
2012
12
Green tea halts progression of cardiac transthyretin amyloidosis: an observational report. (22584381)
2012
13
Transthyretin amyloidosis and the kidney. (22537653)
2012
14
Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis. (23776379)
2012
15
The electrocardiographic features associated with cardiac amyloidosis of variant transthyretin isoleucine 122 type in Afro-Caribbean patients. (22795285)
2012
16
Clinical features and survival in senile systemic amyloidosis: comparison to familial transthyretin cardiomyopathy. (21838471)
2011
17
Successful heart and liver transplantation in a Swiss patient with Glu89Lys transthyretin amyloidosis. (21383601)
2011
18
Familial approach in hereditary transthyretin cardiac amyloidosis]. (21439703)
2011
19
Pressure-volume relationships in patients with transthyretin (ATTR) cardiac amyloidosis secondary to V122I mutations and wild-type transthyretin: Transthyretin Cardiac Amyloid Study (TRACS). (21191093)
2011
20
Clinical symptomatic de novo systemic transthyretin amyloidosis 9 years after domino liver transplantation. (20035516)
2010
21
Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. (19618439)
2009
22
Familial transthyretin amyloidosis]. (20143571)
2009
23
Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. (19781421)
2009
24
Oxidative precipitation of transthyretin--a clue to elucidate amyloidosis]. (18546893)
2008
25
Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. (17635579)
2007
26
Design of mechanism-based inhibitors of transthyretin amyloidosis: studies with biphenyl ethers and new structural templates. (17948976)
2007
27
Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. (17968687)
2007
28
Transthyretin amyloidosis in a patient of Iranian-Jewish extraction: a second Israeli-Jewish case. (17484624)
2007
29
Aging and transthyretin-related amyloidosis: pathologic examinations in pulmonary amyloidosis. (16690497)
2006
30
Fatal cerebral haemorrhage after liver transplantation in a patient with transthyretin variant (gly53glu) amyloidosis. (17122946)
2006
31
Genistein, a natural product from soy, is a potent inhibitor of transthyretin amyloidosis. (16195386)
2005
32
Kinetic stabilization of an oligomeric protein under physiological conditions demonstrated by a lack of subunit exchange: implications for transthyretin amyloidosis. (15966751)
2005
33
Effect of nitric oxide in amyloid fibril formation on transthyretin-related amyloidosis. (16101296)
2005
34
Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). (12832749)
2003
35
D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis? (12779320)
2003
36
Cardiac manifestations of amyloidosis by deposits of transthyretin and apolipoprotein A1. Report of 3 families]. (12868344)
2003
37
Laboratory assessment of transthyretin amyloidosis. (12553428)
2002
38
Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment. (11261421)
2001
39
Biophysical analysis of normal transthyretin: implications for fibril formation in senile systemic amyloidosis. (11409037)
2001
40
Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. (11132096)
2000
41
The beta-slip: a novel concept in transthyretin amyloidosis. (11106758)
2000
42
Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate. (10691052)
1999
43
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. (10571824)
1999
44
Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. (10455100)
1999
45
Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. (9767365)
1998
46
Transthyretin amyloidosis: a new mutation associated with dementia. (9066351)
1997
47
Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) (8960746)
1996
48
Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. (8081397)
1994
49
Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. (8097803)
1993
50
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. (1351039)
1992

Genetic Variations for Transthyretin Amyloidosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Transthyretin Amyloidosis:

62 (show all 73)
id Symbol AA change Variation ID SNP ID
1TTRp.Cys30ArgVAR_007547
2TTRp.Asp38GluVAR_007548
3TTRp.Asp38GlyVAR_007549
4TTRp.Val40IleVAR_007550
5TTRp.Pro44SerVAR_007551rs11541790
6TTRp.Val50AlaVAR_007552
7TTRp.Val50LeuVAR_007553
8TTRp.Val50MetVAR_007554rs28933979
9TTRp.Phe53IleVAR_007555
10TTRp.Phe53LeuVAR_007556
11TTRp.Ala56ProVAR_007557
12TTRp.Glu62GlyVAR_007558rs11541796
13TTRp.Ala65AspVAR_007559
14TTRp.Ala65ThrVAR_007560
15TTRp.Gly67AlaVAR_007561
16TTRp.Gly67ArgVAR_007562
17TTRp.Gly67ValVAR_007563
18TTRp.Thr69AlaVAR_007564
19TTRp.Ser70IleVAR_007565
20TTRp.Ser70ArgVAR_007566
21TTRp.Ser72ProVAR_007567
22TTRp.Glu74GlyVAR_007568
23TTRp.Leu75ProVAR_007569
24TTRp.Leu78HisVAR_007570
25TTRp.Leu78ArgVAR_007571
26TTRp.Thr79LysVAR_007572
27TTRp.Thr80AlaVAR_007573
28TTRp.Glu81LysVAR_007574
29TTRp.Phe84LeuVAR_007575
30TTRp.Ile88LeuVAR_007576
31TTRp.Tyr89HisVAR_007577
32TTRp.Lys90AsnVAR_007578
33TTRp.Val91AlaVAR_007579
34TTRp.Ile93ValVAR_007580
35TTRp.Ser97TyrVAR_007582
36TTRp.Ile104AsnVAR_007583
37TTRp.Ile104SerVAR_007584
38TTRp.Glu109GlnVAR_007585
39TTRp.Ala111SerVAR_007587
40TTRp.Ala117GlyVAR_007588
41TTRp.Ile127ValVAR_007592
42TTRp.Leu131MetVAR_007594
43TTRp.Tyr134CysVAR_007595
44TTRp.Tyr136SerVAR_007596
45TTRp.Val142IleVAR_007600rs28933980
46TTRp.Val48MetVAR_010658
47TTRp.Glu109LysVAR_010659
48TTRp.Leu32ProVAR_038959
49TTRp.Ser43AsnVAR_038961
50TTRp.Val50GlyVAR_038962
51TTRp.Phe53ValVAR_038964
52TTRp.Arg54ThrVAR_038965
53TTRp.Lys55AsnVAR_038966
54TTRp.Asp58AlaVAR_038967
55TTRp.Asp58ValVAR_038968
56TTRp.Trp61LeuVAR_038969
57TTRp.Glu62AspVAR_038970rs11541796
58TTRp.Phe64SerVAR_038971
59TTRp.Ala65SerVAR_038972
60TTRp.Gly67GluVAR_038973
61TTRp.Thr69IleVAR_038974
62TTRp.Gly73GluVAR_038975
63TTRp.Glu74LysVAR_038976
64TTRp.Leu75GlnVAR_038977
65TTRp.Glu81GlyVAR_038978
66TTRp.Tyr98PheVAR_038979
67TTRp.Ile104ThrVAR_038980
68TTRp.Ala117SerVAR_038982
69TTRp.Thr126AsnVAR_038984
70TTRp.Ile127MetVAR_038985
71TTRp.Ala140SerVAR_038986
72TTRp.Val142AlaVAR_038987
73TTRp.Asn144SerVAR_038988

Expression for genes affiliated with Transthyretin Amyloidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Transthyretin Amyloidosis

Search GEO for disease gene expression data for Transthyretin Amyloidosis.

Pathways for genes affiliated with Transthyretin Amyloidosis

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53Reactome, 51QIAGEN
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Pathways related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5TTR, RBP4
29.5TTR, RBP4
3
Hide members
9.5TTR, SNCA

Compounds for genes affiliated with Transthyretin Amyloidosis

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1purpurin4410.0TTR, RBP4
2thioflavin t4410.0TTR, SNCA
3retinyl palmitate44 2410.9TTR, RBP4
4lutein449.9TTR, RBP4
5tocopherol449.9TTR, RBP4
6cellulose acetate449.9TTR, RBP4
7phosphorus449.8RBP4, TTR
8isoleucine449.8TTR, RBP4
9betacarotene449.7TTR, RBP4
10guanidine hydrochloride449.7TTR, SNCA
11spermidine44 28 11 2412.6CLU, SNCA
12spermine44 28 11 2412.6SNCA, CLU
13vitamin-e449.5TTR, RBP4
14alpha tocopherol449.4RBP4, SNCA, TTR
15valine449.4RBP4, SNCA, TTR
16glutamine449.4TTR, ATXN1, SNCA
17folate449.3TTR, CLU, RBP4
18cysteine449.2CLU, SNCA, RBP4
19paraffin449.2TTR, CLU, SNCA
20pioglitazone44 49 28 1112.2RBP4, NPPB
21triiodothyronine449.2NPPB, RBP4, TTR
22uric acid44 2410.2TTR, RBP4, NPPB
23adenylate449.1TTR, SNCA, RBP4
24bicarbonate449.1NPPB, SNCA
25phospholipid449.1RBP4, SNCA, CLU
26thyroxine44 2410.1NPPB, RBP4, TTR
27norepinephrine44 11 2411.1TTR, SNCA, NPPB
28homocysteine44 2410.0TTR, CLU, NPPB
29vitamin d449.0TTR, CLU, NPPB
30creatinine448.9TTR, RBP4, NPPB
31levodopa44 119.8SNCA, NPPB
32cholesterol44 28 11 2411.8RBP4, SNCA, CLU, TTR
33heparin44 28 11 2411.7NPPB, SNCA, CLU
34iron44 249.6NPPB, RBP4, SNCA, TTR
35glucose448.5NPPB, RBP4, SNCA, TTR
36lactate448.5TTR, CLU, RBP4, NPPB
37dexamethasone44 49 28 1111.5NPPB, RBP4, CLU, TTR
38zinc44 249.5NPPB, RBP4, CLU, TTR
39estrogen448.5NPPB, RBP4, CLU, TTR
40fatty acid448.4NPPB, RBP4, SNCA, CLU
41progesterone44 59 28 11 2412.4CLU, RBP4, NPPB
42oxygen44 249.4NPPB, RBP4, SNCA, CLU
43lipid448.3CLU, SNCA, RBP4, NPPB
44dopamine44 28 11 2411.0NPPB, RBP4, SNCA, CLU, TTR
45serine448.0TTR, CLU, SNCA, RBP4, NPPB
46testosterone44 59 11 2410.6TTR, CLU, ATXN1, SNCA, RBP4, NPPB

GO Terms for genes affiliated with Transthyretin Amyloidosis

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16Gene Ontology
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Cellular components related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.1TTR, CLU, RBP4, NPPB
2extracellular regionGO:0055767.3TTR, CLU, SNCA, RBP4, NPPB

Biological processes related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinol metabolic processGO:0425729.6TTR, RBP4
2phototransduction, visible lightGO:0076039.5TTR, RBP4
3regulation of excitatory postsynaptic membrane potentialGO:0600799.5ATXN1, SNCA
4adult locomotory behaviorGO:0083449.4SNCA, ATXN1
5retinoid metabolic processGO:0015239.2TTR, RBP4

Molecular functions related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.2TTR, NPPB
2identical protein bindingGO:0428028.8TTR, ATXN1, SNCA

Products for genes affiliated with Transthyretin Amyloidosis

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  • Antibodies
  • Proteins
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Sources for Transthyretin Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet