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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
For additional species annotation, visit the Alliance of Genome Resources.



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 2:168,365,364...168,381,533
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 ClinVar Annotator: match by term: Hereditary amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:17701470 PMID:18326041 PMID:32393063 PMID:15995833 PMID:15118671 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: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:8610157 PMID:9754958 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:25741868 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:18566660 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 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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 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 polyneuropathy 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 Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 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 polyneuropathy 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 Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1335038 PMID:1351039 PMID:1355416 PMID:1356051 PMID:1358785 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 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by OMIM:105200
ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous
OMIM
ClinVar
PMID:1502149 PMID:1901417 PMID:4304452 PMID:8675681 PMID:9916936 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 ClinVar Annotator: match by synonym: Ostertag type amyloidosis ClinVar
OMIM
PMID:22693999 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: Amyloidosis 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by term: AFib amyloidosis
ClinVar Annotator: match by OMIM:105200
OMIM
ClinVar
PMID:8097946 PMID:8113408 PMID:8639778 PMID:8944230 PMID:9389696 More... NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Lyz2 lysozyme 2 ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by OMIM:105200
OMIM
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: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1652889 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 ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:28492532 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 ClinVar Annotator: match by OMIM:176500 ClinVar
OMIM
RGD
PMID:10391242 PMID:21610757 PMID:11159188 RGD:1358403 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
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:9054935 PMID:9559741 PMID:25741868 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: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 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: Primary localized cutaneous amyloidosis 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
ClinVar Annotator: match by OMIM:613955
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
ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3
ClinVar
OMIM
PMID:19416385 PMID:25741868 PMID:25866143 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 Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis 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: Amyloidogenic transthyretin amyloidosis 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: Amyloidogenic transthyretin amyloidosis 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: Amyloidogenic transthyretin amyloidosis 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: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,720,975...11,756,234
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 3:77,095,165...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 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: Familial Transthyretin Amyloidosis ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 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 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 Ttn titin ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
ClinVar Annotator: match by term: Amyloidogenic 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 ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis
ClinVar Annotator: match by term: Transthyretin amyloidosis
ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
ClinVar Annotator: match by OMIM:105210
ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM
ClinVar
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: Pigmentary disorder, reticulate, with systemic manifestations
ClinVar Annotator: match by term: Pigmentary disorder, reticulate, with systemic manifestations, X-linked
ClinVar
OMIM
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 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        inherited metabolic disorder 2661
          Familial Amyloidosis 31
            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 + 19
            X-linked reticulate pigmentary disorder 1
            familial visceral amyloidosis 4
            primary cutaneous amyloidosis + 5
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          inherited metabolic disorder 2661
            Familial Amyloidosis 31
              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 + 19
              X-linked reticulate pigmentary disorder 1
              familial visceral amyloidosis 4
              primary cutaneous amyloidosis + 5
paths to the root