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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:Wilson disease
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Accession:DOID:893 term browser browse the term
Definition:A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Synonyms:exact_synonym: Copper Storage Disease;   Hepatic Form of Wilson Disease;   Hepato Neurologic Wilson Disease;   Hepato-Neurologic Wilson Diseases;   Hepatocerebral Degeneration;   Hepatolenticular Degeneration Syndrome;   Kinnier Wilson Disease;   Kinnier-Wilson Diseases;   Neurohepatic Degeneration;   Neurohepatic Degenerations;   Progressive Lenticular Degeneration;   Pseudosclerosis;   WD;   WND;   Westphal Strumpell syndrome;   Westphal pseudosclerosis;   Wilson's disease;   Wilsons disease;   cerebral pseudoscleroses;   cerebral pseudosclerosis;   hepatocerebral degenerations;   hepatolenticular degeneration
 narrow_synonym: Wilson disease, COMMD1 type;   Wilson disease, hepatic form
 primary_id: MESH:D006527
 alt_id: OMIA:001071;   OMIA:001988;   OMIM:277900
 xref: GARD:7893;   ICD10CM:E83.01;   NCI:C84756
For additional species annotation, visit the Alliance of Genome Resources.


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Wilson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Wilson's disease
ClinVar Annotator: match by term: Wilson disease
ClinVar PMID:28492532 PMID:30655162 NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 7:30,507,135...31,684,604
Ensembl chr 7:30,699,476...31,681,182
JBrowse link
G Anxa5 annexin A5 IEP
ISO
protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:21751376, PMID:21751376 RGD:10053726 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686180 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Asmt acetylserotonin O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr12:18,521,383...18,527,036
Ensembl chr12:18,521,401...18,526,250
JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA:increased expression:hippocampus (rat) RGD PMID:27331785 RGD:11340212 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Atp7b ATPase copper transporting beta treatment IAGP
ISO
IDA
DNA:deletion:exon
ClinVar Annotator: match by term: Wilson disease
compared to LEA/Hok
DNA:mutations:multiple:
ClinVar Annotator: match by term: Wilson's disease
ClinVar Annotator: match by OMIM:277900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:893844 PMID:2224048 PMID:2409472 PMID:2610069 PMID:2679931 PMID:7626145 PMID:7726170 PMID:7833924 PMID:8203200 PMID:8298639 PMID:8298640 PMID:8298641 PMID:8526905 PMID:8533760 PMID:8782057 PMID:8931691 PMID:8938442 PMID:8980283 PMID:9199563 PMID:9222767 PMID:9311736 PMID:9352458 PMID:9452121 PMID:9482578 PMID:9504786 PMID:9536098 PMID:9554743 PMID:9654149 PMID:9671269 PMID:9724794 PMID:9801873 PMID:9829905 PMID:9837819 PMID:9887381 PMID:10051024 PMID:10070620 PMID:10194254 PMID:10406672 PMID:10441329 PMID:10447265 PMID:10453196 PMID:10502776 PMID:10502777 PMID:10544227 PMID:10557326 PMID:10686180 PMID:10721669 PMID:10790207 PMID:10830865 PMID:10942420 PMID:10980554 PMID:10981891 PMID:10982773 PMID:10994503 PMID:11043508 PMID:11060541 PMID:11093740 PMID:11157799 PMID:11175281 PMID:11180609 PMID:11216666 PMID:11243728 PMID:11405812 PMID:11472373 PMID:11479773 PMID:11690702 PMID:11721763 PMID:11775208 PMID:11803042 PMID:11854914 PMID:11857545 PMID:11954751 PMID:11985593 PMID:12032531 PMID:12202071 PMID:12228238 PMID:12325021 PMID:12376745 PMID:12515040 PMID:12532272 PMID:12544487 PMID:12557139 PMID:12820478 PMID:12885331 PMID:12955875 PMID:14574444 PMID:14579150 PMID:14616767 PMID:14639035 PMID:14761325 PMID:14962673 PMID:14966923 PMID:14974157 PMID:14986826 PMID:14998371 PMID:15024742 PMID:15135151 PMID:15147237 PMID:15202786 PMID:15205462 PMID:15205742 PMID:15337266 PMID:15523622 PMID:15524314 PMID:15557537 PMID:15571607 PMID:15723329 PMID:15811015 PMID:15845031 PMID:15911138 PMID:15952988 PMID:15967699 PMID:15994426 PMID:16088907 PMID:16133174 PMID:16175588 PMID:16207219 PMID:16233999 PMID:16234011 PMID:16283883 PMID:16416207 PMID:16423615 PMID:16472602 PMID:16495228 PMID:16510432 PMID:16545904 PMID:16567646 PMID:16603785 PMID:16607473 PMID:16644258 PMID:16649058 PMID:16684691 PMID:16696937 PMID:16791614 PMID:16824500 PMID:16868807 PMID:16932613 PMID:16939419 PMID:16998287 PMID:16998622 PMID:17154398 PMID:17160357 PMID:17182432 PMID:17264425 PMID:17272994 PMID:17276780 PMID:17300695 PMID:17317524 PMID:17325640 PMID:17410460 PMID:17433323 PMID:17576681 PMID:17587212 PMID:17634212 PMID:17680703 PMID:17717039 PMID:17718866 PMID:17823867 PMID:17876883 PMID:17897870 PMID:17919502 PMID:17949296 PMID:18034201 PMID:18156766 PMID:18203200 PMID:18286826 PMID:18311837 PMID:18371106 PMID:18373411 PMID:18403153 PMID:18414213 PMID:18424137 PMID:18483695 PMID:18568852 PMID:18652531 PMID:18698682 PMID:18728530 PMID:18779302 PMID:18841564 PMID:18855987 PMID:19033537 PMID:19062534 PMID:19118915 PMID:19118916 PMID:19172127 PMID:19371217 PMID:19419418 PMID:19514071 PMID:19596473 PMID:19783880 PMID:19888908 PMID:19937698 PMID:20045993 PMID:20082719 PMID:20301685 PMID:20333758 PMID:20421574 PMID:20453399 PMID:20465995 PMID:20485189 PMID:20491539 PMID:20517649 PMID:20647314 PMID:20931554 PMID:20958917 PMID:20967755 PMID:21034864 PMID:21146535 PMID:21219664 PMID:21242307 PMID:21334398 PMID:21364284 PMID:21398519 PMID:21406592 PMID:21454443 PMID:21610751 PMID:21645214 PMID:21682854 PMID:21707886 PMID:21794208 PMID:21796144 PMID:21832955 PMID:21956287 PMID:21982967 PMID:22019423 PMID:22046264 PMID:22087377 PMID:22093921 PMID:22130675 PMID:22170460 PMID:22221592 PMID:22240481 PMID:22286624 PMID:22308153 PMID:22455587 PMID:22484412 PMID:22494076 PMID:22565294 PMID:22677543 PMID:22687675 PMID:22692182 PMID:22720273 PMID:22720308 PMID:22735241 PMID:22745856 PMID:22763723 PMID:22774841 PMID:22802922 PMID:22940187 PMID:22945834 PMID:22955616 PMID:22981378 PMID:23159873 PMID:23219664 PMID:23235335 PMID:23275100 PMID:23333878 PMID:23382538 PMID:23389864 PMID:23430806 PMID:23430908 PMID:23486543 PMID:23518715 PMID:23525077 PMID:23551039 PMID:23556051 PMID:23567103 PMID:23607698 PMID:23789284 PMID:23843956 PMID:23885147 PMID:23962630 PMID:23963605 PMID:23982005 PMID:24003324 PMID:24010089 PMID:24023303 PMID:24033266 PMID:24094725 PMID:24118554 PMID:24119323 PMID:24146181 PMID:24253677 PMID:24475083 PMID:24476933 PMID:24517292 PMID:24555712 PMID:24661374 PMID:24668339 PMID:24706876 PMID:24718822 PMID:24720933 PMID:24798599 PMID:24878384 PMID:24892424 PMID:24897373 PMID:24909901 PMID:24932333 PMID:25003971 PMID:25014046 PMID:25046119 PMID:25086856 PMID:25089800 PMID:25130000 PMID:25134866 PMID:25327413 PMID:25376582 PMID:25390358 PMID:25465132 PMID:25497208 PMID:25516681 PMID:25525159 PMID:25617204 PMID:25637381 PMID:25678388 PMID:25704483 PMID:25704634 PMID:25741868 PMID:25825851 PMID:25982861 PMID:25988284 PMID:26004889 PMID:26032686 PMID:26206375 PMID:26207595 PMID:26253413 PMID:26269689 PMID:26275891 PMID:26466587 PMID:26483271 PMID:26650869 PMID:26660341 PMID:26752957 PMID:26764160 PMID:26782526 PMID:26799313 PMID:26807378 PMID:26819605 PMID:26829729 PMID:27022412 PMID:27122662 PMID:27398169 PMID:27437191 PMID:27528516 PMID:27535533 PMID:27930511 PMID:27935710 PMID:27941192 PMID:27982432 PMID:27992490 PMID:28212618 PMID:28265897 PMID:28392828 PMID:28433102 PMID:28443131 PMID:28492532 PMID:28507923 PMID:28515472 PMID:28554332 PMID:28717664 PMID:28776642 PMID:29063292 PMID:29321352 PMID:29356957 PMID:29418065 PMID:29482223 PMID:29637721 PMID:29649982 PMID:29761093 PMID:29790872 PMID:29914392 PMID:29930488 PMID:29979436 PMID:30087448 PMID:30097039 PMID:30120852 PMID:30232804 PMID:30254379 PMID:30556376 PMID:30655162 PMID:30702195 PMID:30723317 PMID:30884209 PMID:31000363 PMID:31059521 PMID:31172689 PMID:31449670 PMID:31708252 PMID:31942415 PMID:31980526 PMID:32043565 PMID:32154060 PMID:32248359 PMID:32284880 PMID:33223529, PMID:17303181, PMID:30733544, PMID:1561010, PMID:24358170, PMID:7951327, PMID:16803697, PMID:15511628, PMID:32043565, PMID:8037756 RGD:2292672, RGD:25823141, RGD:25823154, RGD:35316074, RGD:631728, RGD:25671604, RGD:1554300, RGD:21410182, RGD:734622 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:7951327, PMID:1561010, PMID:24358170, PMID:30733544, PMID:17303181 RGD:631728, RGD:25823154, RGD:35316074, RGD:25823141, RGD:2292672
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
JBrowse link
G Cp ceruloplasmin treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
CTD PMID:7849148 PMID:22243965 PMID:23519153, PMID:15511628, PMID:18556333 RGD:1554300, RGD:14401715 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:3348368 RGD:2307322 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IDA RGD PMID:17303181 RGD:2292672 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:51,276,022...51,365,238
Ensembl chr15:51,303,909...51,365,234
JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr19:24,701,067...24,705,405
Ensembl chr19:24,701,049...24,705,405
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr15:4,209,702...4,236,895
Ensembl chr15:4,209,703...4,236,895
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831968 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 severity IDA RGD PMID:17259995 RGD:1601345 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26241054 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Hepatolenticular degeneration ClinVar PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 PMID:30517966 PMID:31931739 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:107,664,321...107,759,974
Ensembl chr14:107,664,255...107,760,191
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      endocrine system disease 5713
        liver disease 2423
          Wilson disease 46
            Copper-Overload Cirrhosis 11
            Westphal Disease 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                Wilson disease 46
                  Copper-Overload Cirrhosis 11
                  Westphal Disease 0
paths to the root