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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:amyloidosis
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Accession:DOID:9120 term browser browse the term
Definition:A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. (DO)
Synonyms:exact_synonym: amyloid disease;   amyloidoses
 related_synonym: SERUM AMYLOID A VARIANT
 primary_id: MESH:D000686
 xref: EFO:1001875;   ICD10CM:E85;   ICD9CM:277.3;   NCI:C2868


show annotations for term's descendants           Sort by:
amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23047022 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Periodic fever, familial, autosomal dominant;protein:increased expression:serum RGD PMID:22935190 RGD:8694455 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Apcs amyloid P component, serum ISO RGD PMID:12015594 RGD:1300286 NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993987 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Csf1 colony stimulating factor 1 ISO associated with Kidney Failure, Chronic RGD PMID:12038073 RGD:7257581 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:24033266 PMID:24825141 PMID:25741868 PMID:28492532 PMID:33232181 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:28390893 RGD:13504835 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gsn gelsolin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): RGD PMID:23052617 RGD:13207414 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO associated with familial Mediterranean fever;protein:increased expression:serum: RGD PMID:31474164 RGD:127229901 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25595224 PMID:15536615 RGD:1580528 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		JBrowse link
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
Amyloid Neuropathies term browser
Symbol Object Name Qualifiers 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 chr11:24,019,774...24,236,584
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 chr10:16,680,478...16,683,275 JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567873 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Ttr transthyretin ISO RGD PMID:15793844 RGD:1580527 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 Qualifiers 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, PIEDMONT 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
cardiac amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY 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: AMYLOID CARDIOMYOPATHY 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: AMYLOID CARDIOMYOPATHY 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: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:25741868 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: AMYLOID CARDIOMYOPATHY ClinVar PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1351039 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Itm2b integral membrane protein 2B ISS MouseDO NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Mme membrane metallo-endopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406 PMID:21382117 RGD:1600811, RGD:13801026 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523 		JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 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, 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 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 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 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 Ttn titin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:23861362 PMID:25741868 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 polyneuropathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1351039 More... RGD:1331525 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
Familial Amyloidosis term browser
Symbol Object Name Qualifiers 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 ClinVar Annotator: match by term: Hereditary amyloidosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17701470 PMID:18326041 PMID:28492532 PMID:32393063 PMID:15995833 More... RGD:1580526, 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis		 OMIM
CTD
ClinVar		 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:2379562 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO 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 Qualifiers 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
immunoglobulin light chain amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers 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
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers 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: Heredopathia ophthalmootoencephalica		 OMIM
CTD
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 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 Qualifiers 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:9054935 PMID:9463327 PMID:9559741 PMID:9727509 PMID:10798644 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 Qualifiers 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: Corneal dystrophy, lattice type 3A		 OMIM
CTD
ClinVar		 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 PMID:11004271 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
primary cutaneous amyloidosis term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818 		JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic 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 3:77,095,165...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: Familial 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: 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 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: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial 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: Amyloidogenic transthyretin amyloidosis | 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:1351039 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder		 OMIM
CTD
ClinVar		 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 21122
    Nutritional and Metabolic Diseases 8217
      disease of metabolism 8217
        Proteostasis Deficiencies 786
          amyloidosis 58
            Amyloid Neuropathies + 23
            Familial Amyloidosis + 32
            Muckle-Wells syndrome 2
            amyloidoma + 3
            apolipoprotein A-IV associated amyloidosis 0
            cardiac amyloidosis 5
            cerebral amyloid angiopathy + 11
            dialysis-related amyloidosis 0
            immunoglobulin heavy chain amyloidosis 0
            immunoglobulin heavy-and-light chain 0
            immunoglobulin light chain amyloidosis 3
            serum amyloid A amyloidosis 0
            variant ABeta2M amyloidosis 0
            wild-type amyloidosis 0
paths to the root