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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 chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702 		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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993987 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G APP amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:25741868 PMID:28492532 NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429 		JBrowse link
G CSF1 colony stimulating factor 1 ISO associated with Kidney Failure, Chronic RGD PMID:12038073 RGD:7257581 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:24033266 PMID:24825141 PMID:25741868 PMID:28492532 PMID:33232181 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:28390893 RGD:13504835 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSN gelsolin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129 		JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr27:6,993,452...7,030,372
Ensembl chr27:6,993,452...7,017,316 		JBrowse link
G SAA1 serum amyloid A1 ISO ClinVar Annotator: match by term: Serum amyloid a variant ClinVar PMID:1546977 PMID:1764061 PMID:7655463 PMID:28492532
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 chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:23861362 PMID:24375709 PMID:24448499 PMID:25741868 PMID:28074886 More... NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246 		JBrowse link
G TNF tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		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 chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:9818054 PMID:10071047 PMID:15820680 PMID:20209591 PMID:25488473 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr21:41,243,214...41,292,458
Ensembl chr21:41,243,294...41,291,995 		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 chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		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 chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA, protein:decreased expression:salivary gland, nerve RGD PMID:16515552 RGD:7771547 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514 		JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567873 NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
G TTR transthyretin ISO RGD PMID:15793844 RGD:1580527 NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		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 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 OMIM
ClinVar		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
cardiac amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		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 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		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 chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376 		JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G APP amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958 		JBrowse link
G ITM2B integral membrane protein 2B ISO MouseDO NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433 		JBrowse link
G MME membrane metalloendopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406 PMID:21382117 RGD:13801026 RGD:1600811 NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919 		JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr27:35,828,852...35,838,748
Ensembl chr27:35,828,029...35,838,754 		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 chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G LOC607874 cystatin-C-like ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type OMIM
ClinVar		 PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 More... NCBI chr23:49,562...53,618 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:17665932 PMID:21296086 More... NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G DSC1 desmocollin 1 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr 7:58,322,959...58,350,092
Ensembl chr 7:58,322,959...58,457,978 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978 		JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926 		JBrowse link
G DSG3 desmoglein 3 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr 7:58,046,563...58,077,926
Ensembl chr 7:57,982,825...58,077,926 		JBrowse link
G DSG4 desmoglein 4 ISO ClinVar Annotator: match by term: Familial amyloid neuropathy ClinVar PMID:28492532 NCBI chr 7:58,101,294...58,135,376 JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr22:60,585,563...60,597,027
Ensembl chr22:60,571,822...60,597,024 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		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 chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		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 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Familial amyloid neuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		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 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism
renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human)		 CTD
RGD		 PMID:8097946 PMID:8639778 RGD:1601166 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975 		JBrowse link
G GSN gelsolin ISO DNA:point mutation: ;654G>A RGD PMID:2175344 RGD:1599858 NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129 		JBrowse link
G LOC607874 cystatin-C-like ISO protein:missense mutation:cds:p.L68Q (human) RGD PMID:3517880 RGD:2314354 NCBI chr23:49,562...53,618 JBrowse link
G LYZ lysozyme ISO RGD PMID:8464497 PMID:12675840 RGD:1599840 RGD:1599842 NCBI chr10:11,346,500...11,350,639
Ensembl chr10:11,346,435...11,351,040 		JBrowse link
G RET ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12864791 NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Hereditary amyloidosis ClinVar PMID:7914929 PMID:8081397 PMID:9748014 PMID:10694917 PMID:12039669 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		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 ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis OMIM
ClinVar		 PMID:1502149 PMID:1901417 PMID:2108924 PMID:2123470 PMID:3141894 More... NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Familial visceral amyloidosis OMIM
ClinVar		 PMID:22693999 PMID:25702838 PMID:25741868 PMID:28492532 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997 		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 OMIM
ClinVar		 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 More... NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975 		JBrowse link
G LYZ lysozyme ISO ClinVar Annotator: match by term: Familial visceral amyloidosis OMIM
ClinVar		 PMID:1808634 PMID:8464497 PMID:8566845 PMID:10534505 PMID:11849445 More... NCBI chr10:11,346,500...11,350,639
Ensembl chr10:11,346,435...11,351,040 		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: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome OMIM
ClinVar		 PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129 		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 chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563 		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 5:51,122,469...51,123,753 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 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222 		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 ClinVar Annotator: match by term: Presenile dementia with spastic ataxia OMIM
ClinVar		 PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433 		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 ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433 		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 ClinVar Annotator: match by term: Lattice corneal dystrophy Type I OMIM
ClinVar		 PMID:1264234 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 More... NCBI chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607 		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 ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A OMIM
ClinVar		 PMID:1264234 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 More... NCBI chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607 		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 chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		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 OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		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 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G IL31RA interleukin 31 receptor A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:43,113,194...43,198,200
Ensembl chr 2:43,144,071...43,193,293 		JBrowse link
G OSMR oncostatin M receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:70,016,384...70,067,098
Ensembl chr 4:70,018,022...70,055,216 		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 4:70,016,384...70,067,098
Ensembl chr 4:70,018,022...70,055,216 		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 2:43,113,194...43,198,200
Ensembl chr 2:43,144,071...43,193,293 		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 chr14:36,919,184...36,947,023
Ensembl chr14:36,919,296...36,946,643 		JBrowse link
transthyretin amyloidosis term browser
Symbol Object Name Qualifiers 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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		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 chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		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 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TTR transthyretin ISO 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
ClinVar		 PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		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 ClinVar Annotator: match by term: POLA1-related condition | ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:20,227,808...20,537,893
Ensembl chr  X:20,227,886...20,537,902 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        Proteostasis Deficiencies 759
          amyloidosis 60
            Amyloid Neuropathies + 24
            Familial Amyloidosis + 33
            Muckle-Wells syndrome 2
            amyloidoma + 3
            apolipoprotein A-IV associated amyloidosis 0
            cardiac amyloidosis 6
            cerebral amyloid angiopathy + 10
            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