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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:primary biliary cholangitis
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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 IEP mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment
disease_progression		 EXP
ISO
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)		 CTD
RGD		 PMID:20040336 PMID:30682444 PMID:21209952 PMID:18671305 RGD:153297773, RGD:14694982 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 EXP
ISO		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver		 CTD
RGD		 PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628 		JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 EXP
IEP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:		 CTD
RGD		 PMID:12126966 PMID:15770052 RGD:14995336 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD80 CD80 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614 		JBrowse link
G CDH5 cadherin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CENPB centromere protein B IDA RGD PMID:8911074 RGD:27226708 NCBI chr20:3,783,851...3,786,740
Ensembl chr20:3,783,851...3,786,740 		JBrowse link
G CLEC16A C-type lectin domain containing 16A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:10,944,564...11,182,186
Ensembl chr16:10,944,539...11,182,186 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861 		JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 5:173,888,349...173,961,980
Ensembl chr 5:173,888,349...173,961,980 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
disease_progression
no_association		 IAGP autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:49A>G(human)		 RGD PMID:10782900 PMID:16584111 PMID:21594562 PMID:17482523 RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787 		JBrowse link
G CYGB cytoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:76,527,356...76,551,193
Ensembl chr17:76,527,356...76,551,175 		JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DENND1B DENN domain containing 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 1:197,504,748...197,782,150
Ensembl chr 1:197,504,748...197,775,696 		JBrowse link
G DNASE1 deoxyribonuclease 1 IEP protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15651265 PMID:15651265 RGD:9685530 NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061 		JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FOXP3 forkhead box P3 IEP mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:20132096 RGD:329970291 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G HAMP hepcidin antimicrobial peptide treatment IEP
ISO		 mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr 4:144,646,156...144,745,271
Ensembl chr 4:144,646,156...144,745,271 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:10,333,776...10,339,624
Ensembl chr19:10,333,776...10,339,661 		JBrowse link
G IFNG interferon gamma IEP mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660 		JBrowse link
G IL10 interleukin 10 IEP mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A susceptibility
treatment		 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNP: :rs62270414(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)		 CTD
RGD		 PMID:20639880 PMID:19458352 PMID:23433321 PMID:27175695 RGD:25440500, RGD:25440498, RGD:25440489 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility IEP RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL7R interleukin 7 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KRT18 keratin 18 severity IEP protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906 		JBrowse link
G KRT7 keratin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr12:52,233,243...52,255,853
Ensembl chr12:52,232,520...52,252,186 		JBrowse link
G LBR lamin B receptor IDA RGD PMID:8550049 RGD:9588625 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LEP leptin IEP protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor IEP protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LOX lysyl oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G LOXL2 lysyl oxidase like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328 		JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr17:45,263,119...45,317,020
Ensembl chr17:45,263,119...45,317,029 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,782...36,111,236 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MIR21 microRNA 21 severity IEP RGD PMID:28886078 RGD:21408577 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR223 microRNA 223 severity IEP RGD PMID:28886078 RGD:21408577 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP RGD PMID:18507686 RGD:2324885 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO
EXP		 protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30026087 PMID:21903766 RGD:5509055 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30026087 PMID:20132096 RGD:329970291 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility IEP mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NSA2 NSA2 ribosome biogenesis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:74,767,249...74,780,113
Ensembl chr 5:74,766,991...74,780,113 		JBrowse link
G NUP62 nucleoporin 62 severity IDA RGD PMID:12753810 RGD:9831196 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		JBrowse link
G SLC51A solute carrier family 51 member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178 		JBrowse link
G SLC51B SLC51 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397 		JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr12:20,695,332...20,753,386
Ensembl chr12:20,695,332...20,753,386 		JBrowse link
G SOD2 superoxide dismutase 2 IEP protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPIB Spi-B transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr15:40,844,048...40,858,207
Ensembl chr15:40,844,018...40,858,207 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association		 EXP
IAGP		 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:26084578 PMID:28395724 PMID:24648611 PMID:24648611 RGD:25671421, RGD:25671416, RGD:25671415, RGD:25671415 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Primary biliary cholangitis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615 		JBrowse link
G TLR9 toll like receptor 9 IEP protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum (human)
mRNA:increased expression:liver		 RGD PMID:9047083 PMID:17158635 RGD:14995307, RGD:38501106 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TYK2 tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr19:10,350,533...10,380,572
Ensembl chr19:10,350,533...10,380,608 		JBrowse link
G UBD ubiquitin D EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 6:29,555,515...29,559,732
Ensembl chr 6:29,555,515...29,559,732 		JBrowse link
G UTP4 UTP4 small subunit processome component IAGP North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr16:69,132,649...69,169,021
Ensembl chr16:69,131,291...69,231,130 		JBrowse link
G VDR vitamin D receptor susceptibility IEA
IAGP		 DNA:polymorphism: :
DNA:SNP: :		 GAD
RGD		 PMID:15118671 PMID:15683428 PMID:19376604 RGD:1331525, RGD:14402024, RGD:14401750 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IEP		 protein:increased expression:liver
protein:increased expression:plasma:		 RGD PMID:26627607 PMID:26615570 RGD:11528851, RGD:11538286 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377 		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 IAGP ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis ClinVar PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More... NCBI chr16:69,132,649...69,169,021
Ensembl chr16:69,131,291...69,231,130 		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 IAGP ClinVar Annotator: match by term: IL12RB2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:67,307,364...67,398,724
Ensembl chr 1:67,307,364...67,398,724 		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 IAGP
EXP		 ClinVar Annotator: match by term: Reynolds syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA		 OMIM
ClinVar
CTD		 PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      gastrointestinal system disease 8167
        autoimmune disease of gastrointestinal tract 273
          primary biliary cholangitis 103
            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 41189
    disease of anatomical entity 32344
      gastrointestinal system disease 8167
        hepatobiliary disease 3236
          biliary tract disease 595
            bile duct disease 546
              cholestasis 383
                intrahepatic cholestasis 169
                  primary biliary cholangitis 103
                    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