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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Amyloid Neuropathies
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Accession:DOID:9006478 term browser browse the term
Definition:Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)
Synonyms:exact_synonym: Amyloid Neuropathy;   Amyloid Polyneuropathies;   Amyloid Polyneuropathy;   Secondary Amyloid Neuropathies;   Secondary Amyloid Neuropathy
 primary_id: MESH:D017772



show annotations for term's descendants           Sort by:
Amyloid Neuropathies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567873 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA, protein:decreased expression:salivary gland, nerve RGD PMID:16515552 RGD:7771547 NCBI chr10:17,184,853...17,187,646 JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567873 NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Ttr transthyretin ISO RGD PMID:15793844 RGD:1580527 NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
JBrowse link
Familial Amyloid Polyneuropathies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III ClinVar PMID:1502149 PMID:2123470 PMID:3142462 PMID:4304452 PMID:7493166 More... NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:8665505 PMID:9150150 PMID:9585613 PMID:9667259 PMID:10699917 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:28492532 NCBI chr18:11,774,711...11,831,868
Ensembl chr18:11,502,003...11,528,494
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:28492532 NCBI chr18:11,725,466...11,757,591
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:28492532 NCBI chr18:11,948,098...11,980,455
Ensembl chr18:11,674,402...11,703,443
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:28492532 NCBI chr18:12,121,287...12,179,590
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:28492532 NCBI chr18:12,074,321...12,105,954
Ensembl chr18:11,798,900...11,830,818
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:28492532 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234
JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr16:83,170,973...83,190,280
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:32815737 NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... RGD:1331525 NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Amyloidosis 5 | ClinVar Annotator: match by term: Finnish type amyloidosis | ClinVar Annotator: match by term: GSN-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyloid corneal dystrophy, Japanese type | ClinVar Annotator: match by term: Corneal dystrophy, Lattice type 3 | ClinVar Annotator: match by term: TACSTD2-related condition
OMIM
CTD
ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... NCBI chr 4:98,037,620...98,039,320
Ensembl chr 4:96,707,951...96,709,650
JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lattice corneal dystrophy Type I
OMIM
CTD
ClinVar
PMID:1264234 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1264234 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
transthyretin amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related ClinVar PMID:8665505 PMID:9150150 PMID:9585613 PMID:9667259 PMID:10699917 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,774,711...11,831,868
Ensembl chr18:11,502,003...11,528,494
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,725,466...11,757,591
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,948,098...11,980,455
Ensembl chr18:11,674,402...11,703,443
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:12,121,287...12,179,590
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:12,074,321...12,105,954
Ensembl chr18:11,798,900...11,830,818
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:32815737 NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ttr transthyretin ISO
ISS
ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis
OMIM:105210
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        peripheral nervous system disease 4383
          Amyloid Neuropathies 24
            Amyloid Neuropathies, Primary (nonfamilial) 0
            Familial Amyloid Polyneuropathies + 21
Path 2
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        Proteostasis Deficiencies 810
          amyloidosis 60
            Amyloid Neuropathies 24
              Amyloid Neuropathies, Primary (nonfamilial) 0
              Familial Amyloid Polyneuropathies + 21
paths to the root