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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:Familial Amyloidosis
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Accession:DOID:9004492 term browser browse the term
Definition:Diseases in which there is a familial pattern of AMYLOIDOSIS.
Synonyms:exact_synonym: Amyloidosis - hereditaries;   Amyloidosis hereditary;   Familial Amyloidoses;   Hereditary Amyloidoses
 primary_id: MESH:D028226
 alt_id: RDO:0000616
 xref: NCI:C84555


show annotations for term's descendants           Sort by:
Familial Amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO RGD PMID:22495291 RGD:7241855 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Cst3 cystatin C ISO protein:missense mutation:cds:p.L68Q (human) RGD PMID:3517880 RGD:2314354 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Fga fibrinogen alpha chain ISO renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8097946 PMID:8639778 PMID:8097946 RGD:1601166 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Gsn gelsolin ISO DNA:point mutation: ;654G>A RGD PMID:2175344 RGD:1599858 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Lyz2 lysozyme 2 ISO RGD PMID:12675840 PMID:8464497 RGD:1599842, RGD:1599840 NCBI chr 7:52,906,810...52,912,154
Ensembl chr 7:52,906,811...52,912,106 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12864791 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary amyloidosis		 CTD
ClinVar
RGD		 PMID:7914929 PMID:8081397 PMID:9748014 PMID:10694917 PMID:12039669 More... RGD:1580526, RGD:1331525 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
APP-related cerebral amyloid angiopathy 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
ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related		 CTD
ClinVar
OMIM		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25604855 PMID:25741868 PMID:28492532 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 More... NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		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:17665932 PMID:21296086 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818 		JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy 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 chr16:76,468,834...76,488,141
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 3:77,596,196...77,609,486
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 neuropathy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:77,095,165...77,113,406
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 neuropathy ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial amyloid neuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid neuropathy | 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 chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
familial visceral amyloidosis 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: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1502149 PMID:1901417 PMID:2108924 PMID:2123470 PMID:3141894 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial visceral amyloidosis		 OMIM
CTD
ClinVar		 PMID:22693999 PMID:25702838 PMID:25741868 PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: AFib amyloidosis | ClinVar Annotator: match by term: Amyloidosis 8 | ClinVar Annotator: match by term: Familial visceral amyloidosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 More... NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Lyz2 lysozyme 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial visceral amyloidosis		 OMIM
CTD
ClinVar		 PMID:1808634 PMID:8464497 PMID:8566845 PMID:10534505 PMID:11849445 More... NCBI chr 7:52,906,810...52,912,154
Ensembl chr 7:52,906,811...52,912,106 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 3:18,585,166...18,638,404
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 chr15:40,161,068...40,200,315
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: Lattice corneal dystrophy Type III		 OMIM
CTD
ClinVar		 PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Presenile dementia with spastic ataxia		 CTD
ClinVar
OMIM
RGD		 PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 More... RGD:1358403 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		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
primary cutaneous amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO protein:increased expression:skin: RGD PMID:9740234 RGD:7771598 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Il31ra interleukin 31 receptor A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:44,118,748...44,189,943
Ensembl chr 2:44,122,624...44,183,767 		JBrowse link
G Osmr oncostatin M receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:55,907,119...55,961,373
Ensembl chr 2:55,907,132...55,961,262 		JBrowse link
primary localized cutaneous amyloidosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osmr oncostatin M receptor ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 OMIM
ClinVar		 PMID:18179886 PMID:19690585 NCBI chr 2:55,907,119...55,961,373
Ensembl chr 2:55,907,132...55,961,262 		JBrowse link
primary localized cutaneous amyloidosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il31ra interleukin 31 receptor A ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2 OMIM
ClinVar		 PMID:19690585 PMID:25741868 NCBI chr 2:44,118,748...44,189,943
Ensembl chr 2:44,122,624...44,183,767 		JBrowse link
primary localized cutaneous amyloidosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpnmb glycoprotein nmb ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 OMIM
ClinVar		 PMID:19416385 PMID:25741868 PMID:25866143 PMID:28492532 PMID:29336782 NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367 		JBrowse link
transthyretin amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		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 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		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 chr 8:110,738,669...110,744,814
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 chr11:84,661,783...84,727,730
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 1:69,299,900...69,303,582
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO
ISS		 ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, 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 chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
X-linked reticulate pigmentary disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: POLA1-related condition | ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          Familial Amyloidosis 33
            APP-related cerebral amyloid angiopathy 1
            Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
            CST3-related cerebral amyloid angiopathy + 3
            Cutaneous Bullous Amyloidosis 0
            Familial Amyloid Polyneuropathies + 21
            X-linked reticulate pigmentary disorder 1
            familial visceral amyloidosis 4
            primary cutaneous amyloidosis + 5
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            Familial Amyloidosis 33
              APP-related cerebral amyloid angiopathy 1
              Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
              CST3-related cerebral amyloid angiopathy + 3
              Cutaneous Bullous Amyloidosis 0
              Familial Amyloid Polyneuropathies + 21
              X-linked reticulate pigmentary disorder 1
              familial visceral amyloidosis 4
              primary cutaneous amyloidosis + 5
paths to the root