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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 group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
Synonyms:exact_synonym: Amyloidoses;   amyloid disease
 related_synonym: SERUM AMYLOID A VARIANT
 primary_id: MESH:D000686;   RDO:0000040
 xref: ICD10CM:E85;   ICD9CM:277.3;   NCI:C2868
For additional species annotation, visit the Alliance of Genome Resources.


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 chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Apcs amyloid P component, serum ISO RGD PMID:12015594 RGD:1300286 NCBI chr13:91,426,621...91,427,417
Ensembl chr13:91,426,479...91,427,575
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993987 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Csf1 colony stimulating factor 1 ISO associated with Kidney Failure, Chronic RGD PMID:12038073 RGD:7257581 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:28390893 RGD:13504835 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:30311386 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Gsn gelsolin ISO ClinVar Annotator: match by term: Amyloidosis
ClinVar Annotator: match by term: Amyloid disease
ClinVar PMID:30311386 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:24033266, PMID:30311386 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:30311386 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr 7:139,232,263...139,254,668
Ensembl chr 7:139,232,251...139,254,551
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:23861362, PMID:24375709, PMID:25741868, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25595224, PMID:15536615 RGD:1580528 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044
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 chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
Amyloid Neuropathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO mRNA, protein:decreased expression:salivary gland, nerve RGD PMID:16515552 RGD:7771547 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Ttr transthyretin ISO RGD PMID:15793844 RGD:1580527 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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: 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:9754958, PMID:9848098, PMID:10821838, PMID:11311152, PMID:11409420, PMID:11441013, PMID:11528419, PMID:12654973, PMID:15502844, PMID:16178030, PMID:18413473, PMID:19225789, PMID:20228223, PMID:20697050, PMID:24878480, PMID:25741868, PMID:26104569, PMID:26402770, PMID:27000221, PMID:27858710, PMID:28350801, PMID:28492532 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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 chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Itm2b integral membrane protein 2B ISS MouseDO NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 4:163,239,853...163,261,937
Ensembl chr 4:163,239,849...163,261,958
JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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:25741868 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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, PMID:25741868 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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, PMID:22763267, PMID:22995991, PMID:23217326, PMID:23233322, PMID:23820649, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26090888, PMID:26332594, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
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 chr11:88,912,163...88,972,213 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, PMID:21310275, PMID:23967088, PMID:24033266, PMID:24510615, PMID:25324519, PMID:25741868, PMID:25940119, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1351039, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1729893, PMID:1850190, PMID:1877623, PMID:1979335, PMID:1997217, PMID:2002274, PMID:2063870, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2590199, PMID:2646319, PMID:3030336, PMID:3229002, PMID:3627183, PMID:3934968, PMID:6736244, PMID:7868124, PMID:7906282, PMID:7923855, PMID:8095073, PMID:8102146, PMID:8275943, PMID:8345041, PMID:8428916, PMID:8698351, PMID:8784093, PMID:9017939, PMID:9090525, PMID:9268242, PMID:9395311, PMID:9428731, PMID:10529370, PMID:10762172, PMID:10772944, PMID:10842715, PMID:11385707, PMID:11577236, PMID:11752419, PMID:11752443, PMID:12050338, PMID:12217248, PMID:12440486, PMID:12588803, PMID:12707074, PMID:12874413, PMID:12874414, PMID:14569203, PMID:14640030, PMID:15123043, PMID:15185492, PMID:15299606, PMID:15469931, PMID:15735344, PMID:15820680, PMID:16011990, PMID:16362527, PMID:16432141, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17251346, PMID:17431395, PMID:17503405, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18830126, PMID:18984591, PMID:19428025, PMID:19781421, PMID:20030258, PMID:20301373, PMID:20435197, PMID:20840742, PMID:21557933, PMID:21600538, PMID:22083004, PMID:22184092, PMID:22332999, PMID:22449240, PMID:22620962, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23414091, PMID:23580146, PMID:23713495, PMID:23716704, PMID:24033266, PMID:24073013, PMID:24101373, PMID:24111657, PMID:24184229, PMID:24474780, PMID:24517438, PMID:24633258, PMID:24818650, PMID:24945718, PMID:24955979, PMID:25225131, PMID:25311081, PMID:25395306, PMID:25551524, PMID:25741868, PMID:25743335, PMID:25819286, PMID:25846356, PMID:26123279, PMID:26428663, PMID:26467025, PMID:26537620, PMID:27249223, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27885756, PMID:28492532, PMID:29121657, PMID:15118671 RGD:1331525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Cst3 cystatin C ISO protein:missense mutation:cds:p.L68Q (human) RGD PMID:3517880 RGD:2314354 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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 PMID:8097946, PMID:8639778, PMID:8097946 RGD:1601166 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Gsn gelsolin ISO DNA:point mutation: ;654G>A RGD PMID:2175344 RGD:1599858 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Lyz2 lysozyme 2 ISO RGD PMID:12675840, PMID:8464497 RGD:1599842, RGD:1599840 NCBI chr 7:60,335,968...60,341,264
Ensembl chr 7:60,335,969...60,341,264
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12864791 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hereditary amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17701470, PMID:18326041, PMID:32393063, PMID:15995833, PMID:15118671 RGD:1580526, RGD:1331525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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 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, PMID:10198255, PMID:10487826, PMID:12050338, PMID:17303779, PMID:20884842, PMID:21820994, PMID:23209431, PMID:23770607, PMID:24081495, PMID:25034063, PMID:26530418, PMID:27135400, PMID:27785680, PMID:28492532, PMID:29353225 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by synonym: Ostertag type amyloidosis ClinVar
OMIM
PMID:22693999 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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, PMID:10910940, PMID:12050338, PMID:12871326, PMID:16362348, PMID:19109585, PMID:19420351, PMID:25741868, PMID:28492532 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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, PMID:12360495, PMID:12675840, PMID:15745733, PMID:16523055, PMID:25741868 NCBI chr 7:60,335,968...60,341,264
Ensembl chr 7:60,335,969...60,341,264
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
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149, PMID:1315718, PMID:1322359, PMID:1322360, PMID:1652889, PMID:1658654, PMID:1848334, PMID:2153578, PMID:2175344, PMID:2176481, PMID:2176550, PMID:4543600, PMID:6610849, PMID:6975851, PMID:7550233, PMID:7868127, PMID:8388189, PMID:11754099, PMID:25741868, PMID:28492532 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 4:98,341,187...98,342,887
Ensembl chr 4:98,341,188...98,342,887
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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 OMIM:176500 ClinVar
OMIM
PMID:10391242, PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846, PMID:10781099, PMID:25741868 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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 OMIM:122200 OMIM
ClinVar
PMID:9054935, PMID:9559741 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262, PMID:11004271, PMID:11024425, PMID:11923233, PMID:12400061, PMID:15790870, PMID:16809844, PMID:19337156, PMID:21462384, PMID:23884333, PMID:25741868, PMID:26748743 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by OMIM:191900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11687797, PMID:11992256, PMID:12032915, PMID:12522564, PMID:15020601, PMID:16100350, PMID:16255047, PMID:17178739, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20182451, PMID:20472245, PMID:21109514, PMID:21245836, PMID:21356079, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22524199, PMID:22529966, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23442610, PMID:23703389, PMID:24033266, PMID:24098386, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24759409, PMID:24773462, PMID:25586466, PMID:25596455, PMID:25730877, PMID:25741868, PMID:25766347, PMID:25821352, PMID:25979514, PMID:26020059, PMID:26033552, PMID:26178285, PMID:26218404, PMID:26245507, PMID:26273672, PMID:26386126, PMID:26467025, PMID:26531310, PMID:26535712, PMID:26590045, PMID:26848126, PMID:26931528, PMID:27036377, PMID:27060062, PMID:27191192, PMID:27819323, PMID:27943647, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29322034, PMID:29977033, PMID:30214525, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Il31ra interleukin 31 receptor A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:44,333,347...44,408,005
Ensembl chr 2:44,336,006...44,394,709
JBrowse link
G Osmr oncostatin M receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:56,107,491...56,163,522
Ensembl chr 2:56,110,777...56,151,531
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: Primary localized cutaneous amyloidosis 1 OMIM
ClinVar
PMID:18179886, PMID:19690585 NCBI chr 2:56,107,491...56,163,522
Ensembl chr 2:56,110,777...56,151,531
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 OMIM:613955 OMIM
ClinVar
PMID:19690585 NCBI chr 2:44,333,347...44,408,005
Ensembl chr 2:44,336,006...44,394,709
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 ClinVar
OMIM
PMID:19416385, PMID:29336782 NCBI chr 4:78,694,447...78,715,685
Ensembl chr 4:78,694,447...78,715,683
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 chr18:11,877,918...11,906,828
Ensembl chr18:11,877,561...11,906,827
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,652,948...15,688,605
Ensembl chr18:15,650,526...15,688,284
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,056,113...12,092,858
Ensembl chr18:12,056,113...12,092,858
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, PMID:22763267, PMID:22995991, PMID:23217326, PMID:23233322, PMID:23820649, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26090888, PMID:26332594, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
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 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
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 chr11:88,912,163...88,972,213 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, PMID:21310275, PMID:23967088, PMID:24033266, PMID:24510615, PMID:25324519, PMID:25741868, PMID:25940119, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Amyloidogenic 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, PMID:1351039, PMID:1353008, PMID:1353861, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1362222, PMID:1436517, PMID:1490495, PMID:1520326, PMID:1520336, PMID:1544214, PMID:1547960, PMID:1570831, PMID:1618497, PMID:1626556, PMID:1626570, PMID:1644201, PMID:1656975, PMID:1664269, PMID:1729888, PMID:1729893, PMID:1734866, PMID:1786038, PMID:1850190, PMID:1850191, PMID:1867256, PMID:1877623, PMID:1932142, PMID:1977686, PMID:1979335, PMID:1981182, PMID:1992765, PMID:1997217, PMID:2002274, PMID:2046936, PMID:2063870, PMID:2122246, PMID:2161654, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2360796, PMID:2363717, PMID:2510740, PMID:2564060, PMID:2590199, PMID:2613237, PMID:2624269, PMID:2646319, PMID:2714785, PMID:2840822, PMID:2856994, PMID:2857043, PMID:2877582, PMID:2891727, PMID:2896079, PMID:2981253, PMID:3011930, PMID:3022107, PMID:3022108, PMID:3022697, PMID:3030336, PMID:3097057, PMID:3178532, PMID:3229002, PMID:3457802, PMID:3479441, PMID:3627183, PMID:3676699, PMID:3722385, PMID:3760189, PMID:3908483, PMID:3934968, PMID:4079954, PMID:4138132, PMID:4354899, PMID:4884226, PMID:4952599, PMID:5507249, PMID:5652991, PMID:5799493, PMID:6087811, PMID:6099706, PMID:6100724, PMID:6168726, PMID:6208668, PMID:6300852, PMID:6310716, PMID:6311926, PMID:6487335, PMID:6549130, PMID:6583672, PMID:6651852, PMID:6736244, PMID:6782125, PMID:7018469, PMID:7389759, PMID:7417777, PMID:7599630, PMID:7608709, PMID:7643356, PMID:7655883, PMID:7656439, PMID:7839813, PMID:7868124, PMID:7906282, PMID:7910950, PMID:7914929, PMID:7923855, PMID:7951260, PMID:8038017, PMID:8064809, PMID:8081397, PMID:8095073, PMID:8095301, PMID:8095302, PMID:8100581, PMID:8102146, PMID:8133316, PMID:8194279, PMID:8218290, PMID:8257997, PMID:8275943, PMID:8345041, PMID:8352764, PMID:8406434, PMID:8428916, PMID:8509786, PMID:8563114, PMID:8579098, PMID:8692810, PMID:8698351, PMID:8721565, PMID:8778271, PMID:8784093, PMID:8857732, PMID:8960746, PMID:8990019, PMID:9017939, PMID:9017946, PMID:9066351, PMID:9090525, PMID:9196903, PMID:9215058, PMID:9268242, PMID:9395311, PMID:9428731, PMID:9475090, PMID:9547003, PMID:9605286, PMID:9701270, PMID:9717013, PMID:9748014, PMID:9748569, PMID:9771673, PMID:9798666, PMID:9818054, PMID:9818883, PMID:9843084, PMID:10071047, PMID:10439117, PMID:10453736, PMID:10465115, PMID:10488818, PMID:10506096, PMID:10529370, PMID:10611949, PMID:10611950, PMID:10627135, PMID:10762172, PMID:10772944, PMID:10842705, PMID:10842715, PMID:10842718, PMID:10845569, PMID:10923048, PMID:11261421, PMID:11385707, PMID:11445644, PMID:11577236, PMID:11709003, PMID:11752419, PMID:11752443, PMID:11812437, PMID:11866053, PMID:11940682, PMID:12000195, PMID:12000196, PMID:12039669, PMID:12050338, PMID:12217248, PMID:12433265, PMID:12440483, PMID:12440486, PMID:12557757, PMID:12557758, PMID:12566023, PMID:12588803, PMID:12617705, PMID:12771253, PMID:12779320, PMID:12874413, PMID:12874414, PMID:12874858, PMID:13367520, PMID:13593935, PMID:13894830, PMID:14404854, PMID:14569203, PMID:14627687, PMID:14640030, PMID:14640031, PMID:14673473, PMID:14695346, PMID:14724437, PMID:14968122, PMID:14986482, PMID:15110620, PMID:15123043, PMID:15185492, PMID:15205369, PMID:15217993, PMID:15249622, PMID:15299606, PMID:15377697, PMID:15478468, PMID:15523922, PMID:15645642, PMID:15735344, PMID:15793844, PMID:15820680, PMID:15930086, PMID:16011990, PMID:16076613, PMID:16194874, PMID:16194875, PMID:16357452, PMID:16362527, PMID:16399646, PMID:16432141, PMID:16448460, PMID:16530227, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17028027, PMID:17143887, PMID:17251346, PMID:17338921, PMID:17431395, PMID:17431450, PMID:17453626, PMID:17503405, PMID:17554795, PMID:17577688, PMID:17698792, PMID:17968687, PMID:18022643, PMID:18074076, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18460047, PMID:18606975, PMID:18830126, PMID:18863976, PMID:18925456, PMID:18984591, PMID:19118530, PMID:19291509, PMID:19364362, PMID:19372189, PMID:19428025, PMID:19467548, PMID:19491989, PMID:19602727, PMID:19644733, PMID:19709674, PMID:19752327, PMID:19781421, PMID:19808383, PMID:19922332, PMID:20209591, PMID:20301373, PMID:20435197, PMID:20558946, PMID:20660862, PMID:20686303, PMID:20697105, PMID:20714957, PMID:20840742, PMID:20937937, PMID:21135536, PMID:21406045, PMID:21520333, PMID:21540676, PMID:21550574, PMID:21557933, PMID:21600538, PMID:21692911, PMID:21843040, PMID:21992998, PMID:22083004, PMID:22106346, PMID:22149423, PMID:22184092, PMID:22187309, PMID:22209138, PMID:22332999, PMID:22382560, PMID:22412233, PMID:22449240, PMID:22531659, PMID:22551192, PMID:22580845, PMID:22592564, PMID:22620962, PMID:22745357, PMID:22747647, PMID:22877808, PMID:22928869, PMID:22973891, PMID:22995991, PMID:23080516, PMID:23126592, PMID:23279339, PMID:23317988, PMID:23346293, PMID:23387326, PMID:23414091, PMID:23438977, PMID:23523753, PMID:23580146, PMID:23713495, PMID:23716704, PMID:23833285, PMID:23993291, PMID:24033266, PMID:24046394, PMID:24053266, PMID:24061768, PMID:24073013, PMID:24101130, PMID:24101373, PMID:24111657, PMID:24164154, PMID:24184229, PMID:24358189, PMID:24412190, PMID:24455802, PMID:24474780, PMID:24480837, PMID:24517438, PMID:24555660, PMID:24601850, PMID:24633258, PMID:24650283, PMID:24664531, PMID:24767411, PMID:24779883, PMID:24800914, PMID:24818650, PMID:24945718, PMID:24953234, PMID:24955979, PMID:25044787, PMID:25211232, PMID:25225131, PMID:25291558, PMID:25311081, PMID:25395306, PMID:25412400, PMID:25526974, PMID:25550818, PMID:25551524, PMID:25644864, PMID:25721874, PMID:25741868, PMID:25743335, PMID:25743445, PMID:25819286, PMID:25828388, PMID:25846356, PMID:25857202, PMID:25973863, PMID:25997029, PMID:26017327, PMID:26115788, PMID:26123279, PMID:26123280, PMID:26156087, PMID:26208957, PMID:26342004, PMID:26369527, PMID:26428663, PMID:26467025, PMID:26521788, PMID:26529114, PMID:26537620, PMID:26656838, PMID:26894299, PMID:26986100, PMID:27025994, PMID:27066555, PMID:27238058, PMID:27249223, PMID:27273296, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27584576, PMID:27646980, PMID:27724962, PMID:27793437, PMID:27858761, PMID:27859927, PMID:27885756, PMID:28272196, PMID:28460244, PMID:28492532, PMID:28635949, PMID:28790153, PMID:28798025, PMID:28911993, PMID:29121657, PMID:29246775, PMID:29455155, PMID:29524093, PMID:29941560, PMID:30311386, PMID:30685801, PMID:31139689, PMID:31371117, PMID:32393063 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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: 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:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        Proteostasis Deficiencies 317
          amyloidosis 60
            Amyloid Neuropathies + 20
            Familial Amyloidosis + 31
            Finnish type amyloidosis 1
            Immunoglobulin Light-chain Amyloidosis 3
            Muckle-Wells syndrome 2
            cerebral amyloid angiopathy + 11
            transthyretin amyloidosis 12
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.