Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:primary biliary cholangitis
go back to main search page
Accession:DOID:12236 term browser browse the term
Definition:A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. (DO)
Synonyms:exact_synonym: PBC;   biliary cirrhosis;   biliary liver cirrhoses;   biliary liver cirrhosis;   cholestatic cirrhosis;   chronic nonsuppurative destructive cholangitis;   obstructive liver cirrhosis;   primary biliary cirrhosis;   secondary biliary cirrhosis
 primary_id: MESH:D008105
 xref: EFO:0004267;   EFO:1001486;   EFO:1001487;   GARD:7459;   ICD10CM:K74.3;   ICD10CM:K74.5;   ICD9CM:571.6;   NCI:C27167;   NCI:C51225;   OMIM:PS109720;   ORDO:186
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
primary biliary cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 disease_progression
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)		 CTD
RGD		 PMID:18671305 PMID:20040336 PMID:21209952 PMID:30682444 RGD:14694982 RGD:153297773 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver		 CTD
RGD		 PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674 		JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:		 CTD
RGD		 PMID:12126966 PMID:15770052 RGD:14995336 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750 		JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380 		JBrowse link
G CDH5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:82,830,505...82,863,931
Ensembl chr 5:82,830,939...82,863,882 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CENPB centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr24:17,569,440...17,572,311
Ensembl chr24:17,569,663...17,572,127 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221 		JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 4:38,604,065...38,665,200
Ensembl chr 4:38,607,948...38,664,821 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
no_association
disease_progression		 ISO autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
DNA:SNP:CDS:49A>G(human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)		 RGD PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562 RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762 		JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:4,191,114...4,201,438
Ensembl chr 9:4,184,959...4,200,164 		JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G DENND1B DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 7:5,008,249...5,267,392
Ensembl chr 7:4,999,430...5,262,630 		JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15651265 RGD:9685530 NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:20132096 RGD:329970291 NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619 		JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:50,777,422...50,783,853
Ensembl chr20:50,777,467...50,783,787 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr16:1,037,169...1,040,996
Ensembl chr16:1,037,162...1,167,094 		JBrowse link
G IL10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL12A interleukin 12A susceptibility
treatment		 ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNP: :rs62270414(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)		 RGD
CTD		 PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility ISO RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr20:44,885,410...44,908,139
Ensembl chr20:44,885,337...44,904,538 		JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496 		JBrowse link
G KRT18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368 		JBrowse link
G KRT7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr27:2,812,709...2,827,451 JBrowse link
G LBR lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606 		JBrowse link
G LEP leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LEPR leptin receptor ISO protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819 		JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969 		JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 9:18,255,416...18,302,405
Ensembl chr 9:18,280,198...18,302,401 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR223 microRNA mir-223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 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) treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr18:45,416,347...45,438,226 JBrowse link
G MYBPC2 myosin binding protein C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 1:106,294,360...106,301,700
Ensembl chr 1:106,266,817...106,301,686 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21903766 PMID:30026087 RGD:5509055 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20132096 PMID:30026087 RGD:329970291 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755 		JBrowse link
G NSA2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:57,304,160...57,311,836 JBrowse link
G NUP62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:106,636,282...106,661,250 JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr 9:34,387,084...34,590,603
Ensembl chr 9:34,387,091...34,425,292 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617 		JBrowse link
G SLC51A solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738 		JBrowse link
G SLC51B SLC51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr30:29,425,489...29,436,204
Ensembl chr30:29,425,860...29,436,073 		JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr27:26,497,639...26,553,790
Ensembl chr27:26,498,292...26,553,314 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNPs, haplotypes:multiple 		CTD
RGD		 PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 RGD:25671415 RGD:25671416 RGD:25671421 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894 		JBrowse link
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: Primary biliary cholangitis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654 		JBrowse link
G TLR9 toll like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human)
mRNA:increased expression:liver		 RGD PMID:9047083 PMID:17158635 RGD:14995307 RGD:38501106 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 CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216 		JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr35:26,426,919...26,436,189 JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :		 RGD PMID:15683428 PMID:19376604 RGD:14401750 RGD:14402024 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:		 RGD PMID:26615570 PMID:26627607 RGD:11528851 RGD:11538286 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371 		JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UTP4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis ClinVar PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More... NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981 		JBrowse link
primary biliary cholangitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL12RB2 interleukin 12 receptor subunit beta 2 ISO ClinVar Annotator: match by term: IL12RB2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:43,197,034...43,269,571
Ensembl chr 5:43,197,034...43,257,594 		JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar		 PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        autoimmune disease of gastrointestinal tract 258
          primary biliary cholangitis 101
            Familial Primary Biliary Cirrhosis 0
            North American Indian Childhood Cirrhosis 1
            Reynolds Syndrome 1
            primary biliary cholangitis 1 0
            primary biliary cholangitis 2 0
            primary biliary cholangitis 3 1
            primary biliary cholangitis 4 0
            primary biliary cholangitis 5 0
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        hepatobiliary disease 2899
          biliary tract disease 519
            bile duct disease 476
              cholestasis 331
                intrahepatic cholestasis 137
                  primary biliary cholangitis 101
                    Familial Primary Biliary Cirrhosis 0
                    North American Indian Childhood Cirrhosis 1
                    Reynolds Syndrome 1
                    primary biliary cholangitis 1 0
                    primary biliary cholangitis 2 0
                    primary biliary cholangitis 3 1
                    primary biliary cholangitis 4 0
                    primary biliary cholangitis 5 0
paths to the root