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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 chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA, protein:decreased expression:salivary gland, nerve RGD PMID:16515552 RGD:7771547 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567873 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130
JBrowse link
G TTR transthyretin ISO RGD PMID:15793844 RGD:1580527 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977
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:2123470 PMID:3142462 PMID:4304452 PMID:25741868 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr11:78,521,760...78,538,256
Ensembl chr11:78,521,598...78,538,258
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
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 chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
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 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr15:84,226,953...84,501,320 JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977
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: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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 chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III OMIM
ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... NCBI chr 6:153,859,488...153,861,508
Ensembl chr 6:153,859,482...153,861,492
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 ClinVar Annotator: match by term: Lattice corneal dystrophy Type I OMIM
ClinVar
PMID:1264234 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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 OMIM
ClinVar
PMID:1264234 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
JBrowse link
transthyretin amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC1 desmocollin 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr 6:115,042,225...115,076,097
Ensembl chr 6:115,039,722...115,076,097
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305
JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340
JBrowse link
G DSG3 desmoglein 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr 6:115,352,005...115,383,750
Ensembl chr 6:115,351,925...115,383,743
JBrowse link
G DSG4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr 6:115,288,606...115,325,322
Ensembl chr 6:115,289,859...115,325,854
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 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,707,371...29,735,586
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734
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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:84,226,953...84,501,320 JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis OMIM
ClinVar
PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      nervous system disease 12941
        peripheral nervous system disease 3975
          Amyloid Neuropathies 23
            Amyloid Neuropathies, Primary (nonfamilial) 0
            Familial Amyloid Polyneuropathies + 20
Path 2
Term Annotations click to browse term
  disease 17416
    Nutritional and Metabolic Diseases 7072
      disease of metabolism 7072
        Proteostasis Deficiencies 750
          amyloidosis 58
            Amyloid Neuropathies 23
              Amyloid Neuropathies, Primary (nonfamilial) 0
              Familial Amyloid Polyneuropathies + 20
paths to the root