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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 metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. (DO)
Synonyms:exact_synonym: Hepato Neurologic Wilson Disease;   Hepatocerebral Degeneration;   Hepatolenticular Degeneration Syndrome;   Kinnier Wilson Disease;   Kinnier-Wilson Diseases;   Neurohepatic Degeneration;   WD;   WND;   Westphal Strumpell syndrome;   Westphal pseudosclerosis;   Wilson's disease;   Wilsons disease;   cerebral pseudoscleroses;   cerebral pseudosclerosis;   copper storage disease;   hepatic form of Wilson disease;   hepato-neurologic Wilson diseases;   hepatocerebral degenerations;   hepatolenticular degeneration;   neurohepatic degenerations;   progressive lenticular degeneration;   pseudosclerosis
 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.



show annotations for term's descendants           Sort by:
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 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:24082139 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30655162 More... NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 7:24,313,339...25,479,307
Ensembl chr 7:24,312,843...25,477,693
JBrowse link
G Anxa5 annexin A5 IEP
ISO
protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21751376 PMID:21751376 RGD:10053726 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686180 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Asmt acetylserotonin O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr12:16,304,719...16,309,568
Ensembl chr12:16,304,719...16,309,568
JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA:increased expression:hippocampus (rat) RGD PMID:27331785 RGD:11340212 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atp7b ATPase copper transporting beta treatment IAGP
IDA
ISO
ISS
DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
compared to LEA/Hok
ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease
OMIM:277900
OMIM
CTD
ClinVar
MouseDO
RGD
PMID:626829 PMID:671269 PMID:893844 PMID:1000228 PMID:2333878 More... RGD:2292672, RGD:734622, RGD:21410182, RGD:1554300, RGD:25671604, RGD:631728, RGD:35316074, RGD:25823154, RGD:25823141 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO Copper toxicosis, COMMD1-related OMIA PMID:1380748 PMID:3343179 PMID:6639527 PMID:6710813 PMID:6869968 More... NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
JBrowse link
G Cp ceruloplasmin treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
CTD
RGD
PMID:7849148 PMID:22243965 PMID:23519153 PMID:15511628 PMID:18556333 RGD:1554300, RGD:14401715 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:3348368 RGD:2307322 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IDA RGD PMID:17303181 RGD:2292672 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831968 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 severity IDA RGD PMID:17259995 RGD:1601345 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26241054 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      endocrine system disease 6773
        liver disease 2954
          Wilson disease 52
            Copper-Overload Cirrhosis 11
            Westphal Disease 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Wilson disease 52
                  Copper-Overload Cirrhosis 11
                  Westphal Disease 0
paths to the root