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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:bile duct disease
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Accession:DOID:4138 term browser browse the term
Definition:A biliary tract disease located_in one or more bile ducts. (DO)
Synonyms:exact_synonym: bile duct diseases;   bile duct disorder;   disorder of bile duct
 narrow_synonym: Non-Neoplastic Bile Duct Disorder
 primary_id: MESH:D001649
 xref: EFO:1000400;   NCI:C96716
For additional species annotation, visit the Alliance of Genome Resources.


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bile duct disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO mRNA:increased expression:liver RGD PMID:21037076 RGD:11341737 NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916
JBrowse link
G Fech ferrochelatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10464147 NCBI chrNW_004936497:6,755,626...6,788,568
Ensembl chrNW_004936497:6,755,553...6,790,944
JBrowse link
G Magee1 MAGE family member E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30515189 NCBI chrNW_004936683:2,008,949...2,013,104
Ensembl chrNW_004936683:2,009,167...2,012,570
JBrowse link
Aagenaes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315
JBrowse link
G LOC101965998 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 ClinVar PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321
JBrowse link
ALAGILLE SYNDROME 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankef1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:9,446,425...9,462,724
Ensembl chrNW_004936485:9,446,501...9,462,713
JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:11,435,151...11,486,042
Ensembl chrNW_004936485:11,435,151...11,486,042
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation OMIM
ClinVar
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315
JBrowse link
G Lamp5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:9,952,975...9,964,358
Ensembl chrNW_004936485:9,952,159...9,957,016
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:9,089,118...9,114,396
Ensembl chrNW_004936485:9,088,963...9,115,175
JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:9,825,425...9,932,162
Ensembl chrNW_004936485:9,633,230...9,932,174
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:10,548,966...11,254,139
Ensembl chrNW_004936485:10,548,966...11,253,761
JBrowse link
G Plcb4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:9,991,731...10,353,231
Ensembl chrNW_004936485:9,991,299...10,353,123
JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:8,907,153...9,088,595
Ensembl chrNW_004936485:8,903,951...9,088,613
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:9,198,744...9,279,854
Ensembl chrNW_004936485:9,195,110...9,279,920
JBrowse link
G Tmx4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004936485:11,375,768...11,415,951
Ensembl chrNW_004936485:11,375,706...11,412,741
JBrowse link
ALAGILLE SYNDROME 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965998 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2 OMIM
ClinVar
PMID:16773578 PMID:21378985 PMID:23389697 PMID:24728327 PMID:25016221 More... NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome ClinVar PMID:20190753 PMID:25741868 NCBI chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
JBrowse link
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 More... NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM
ClinVar
PMID:20190753 PMID:25741868 PMID:28492532 PMID:31479177 NCBI chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506
JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Summerskill syndrome OMIM
ClinVar
PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 More... NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 OMIM
ClinVar
PMID:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 More... NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
JBrowse link
bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24131658 RGD:151361287 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
JBrowse link
bile duct cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B susceptibility ISO DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:33357406 NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chrNW_004936501:8,246,927...8,273,258 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936889:231,373...250,985
Ensembl chrNW_004936889:231,373...250,987
Ensembl chrNW_004936889:231,373...250,987
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate beta-hydroxylase ISO mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chrNW_004936496:11,604,992...11,815,680
Ensembl chrNW_004936496:11,604,680...11,816,852
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chrNW_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456
JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase severity ISO protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chrNW_004936588:5,506,683...5,586,450 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chrNW_004936784:515,608...539,915 JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326076 RGD:2326077 NCBI chrNW_004936612:1,262,557...1,556,281
Ensembl chrNW_004936612:1,262,544...1,556,016
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chrNW_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910
JBrowse link
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chrNW_004936604:4,504,519...4,511,897
Ensembl chrNW_004936604:4,504,503...4,511,910
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chrNW_004936619:762,278...791,610 JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
JBrowse link
G Il18 interleukin 18 susceptibility ISO protein:increased expression:serum:
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
RGD PMID:10726686 PMID:30059753 RGD:14695528 RGD:14695529 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
JBrowse link
G LOC101964975 interleukin-8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
JBrowse link
G Sox17 SRY-box transcription factor 17 ISO MouseDO NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936471:4,238,883...4,251,291
Ensembl chrNW_004936471:4,238,845...4,251,350
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936801:1,041,946...1,069,617
Ensembl chrNW_004936801:1,041,708...1,069,776
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chrNW_004936592:3,402,950...3,468,174
Ensembl chrNW_004936592:3,403,690...3,466,525
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
JBrowse link
G Wdr19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
JBrowse link
Caroli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO MouseDO NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chrNW_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chrNW_004936471:21,274,112...21,329,286
Ensembl chrNW_004936471:21,274,027...21,329,503
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:hypermethylation:promoter
DNA:loss of heterozygosity
RGD PMID:10212000 PMID:15467712 RGD:2317198 RGD:2317205 NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Asph aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chrNW_004936496:11,604,992...11,815,680
Ensembl chrNW_004936496:11,604,680...11,816,852
JBrowse link
G Atg101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chrNW_004936512:9,518,128...9,525,986
Ensembl chrNW_004936512:9,518,074...9,526,961
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
JBrowse link
G Birc6 baculoviral IAP repeat containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004936493:903,295...1,115,434
Ensembl chrNW_004936493:899,961...1,115,493
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004936569:715,129...716,187
Ensembl chrNW_004936569:715,129...716,181
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 PMID:28492532 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
JBrowse link
G Epo erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
JBrowse link
G Epor erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chrNW_004936659:1,468,391...1,473,880
Ensembl chrNW_004936659:1,468,634...1,473,880
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
no_association
ISO DNA:SNP: :g.148505302C>T (rs887569) (human)
DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
RGD PMID:24179546 RGD:126779604 NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939
JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chrNW_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO human cell line in a mouse model
DNA:hypermethylation:promoter
RGD PMID:12805482 PMID:15467712 RGD:14401711 RGD:2317198 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum
mRNA, protein:increased expression: :
RGD PMID:10827151 PMID:16974053 RGD:2317909 RGD:2317925 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chrNW_004936557:5,765,093...5,769,853
Ensembl chrNW_004936557:5,765,093...5,769,853
JBrowse link
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Il1r2 interleukin 1 receptor type 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936713:679,680...716,801
Ensembl chrNW_004936713:701,155...716,650
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818
JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Ins insulin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357
JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chrNW_004936605:4,370,222...4,828,972
Ensembl chrNW_004936605:4,372,671...4,825,423
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chrNW_004936512:9,641,587...9,656,573
Ensembl chrNW_004936512:9,641,587...9,656,524
JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) RGD PMID:23375797 RGD:151361187 NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
JBrowse link
G LOC101963142 mucin-3B ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004936543:886,333...904,504 JBrowse link
G LOC101964975 interleukin-8 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17356712 PMID:22561520 RGD:1601377 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chrNW_004936545:6,709,903...6,732,334 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased phosphorylation:liver, carcinoma (human)
protein:increased expression:liver, biliary epithelium (rat)
RGD PMID:14656942 PMID:16818635 RGD:2317578 RGD:2317601 NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179
JBrowse link
G Mfsd4a major facilitator superfamily domain containing 4A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936557:6,823,771...6,852,534
Ensembl chrNW_004936557:6,823,597...6,842,741
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667 RGD:2325769 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:bile duct
mRNA:increased expression:bile duct
RGD PMID:15213623 PMID:16463672 RGD:2324667 RGD:2325856 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO mRNA:increased expression:bile duct
protein:increased expression:bile duct:
protein:increased expression:serum
protein:increased secretion:bile
RGD PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217 RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chrNW_004936588:5,506,683...5,586,450 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004936816:60,499...91,628
Ensembl chrNW_004936816:60,499...91,628
JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2303602 RGD:2324944 NCBI chrNW_004936784:515,608...539,915 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:11680592 PMID:14508831 RGD:2324948 RGD:2324990 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004936816:174,943...209,241 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chrNW_004936816:882...14,717 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chrNW_004936612:1,262,557...1,556,281
Ensembl chrNW_004936612:1,262,544...1,556,016
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16094703 PMID:16818635 RGD:2325280 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11260864 PMID:11866974 RGD:2317134 RGD:2317136 NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
JBrowse link
G Osbp2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chrNW_004936755:31,113...120,747
Ensembl chrNW_004936755:31,009...121,887
JBrowse link
G Osbpl7 oxysterol binding protein like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chrNW_004936490:13,491,704...13,506,742
Ensembl chrNW_004936490:13,491,544...13,506,768
JBrowse link
G Panx2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936629:618,758...626,446
Ensembl chrNW_004936629:618,042...626,452
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chrNW_004936698:650,225...746,593
Ensembl chrNW_004936698:650,953...747,057
JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936473:3,382,618...3,476,049
Ensembl chrNW_004936473:3,382,260...3,476,052
JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936882:577,424...607,691
Ensembl chrNW_004936882:577,395...591,042
JBrowse link
G Pes1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chrNW_004936904:125,922...140,559
Ensembl chrNW_004936904:126,003...140,235
JBrowse link
G Pir pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936470:4,794,803...4,902,211
Ensembl chrNW_004936470:4,793,823...4,902,471
JBrowse link
G Ppia peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chrNW_004936478:19,669,727...19,673,355
Ensembl chrNW_004936478:19,669,506...19,673,398
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism ISO DNA:substitutions, insertion/deletions: (human) RGD PMID:28000796 RGD:151665188 NCBI chrNW_004936496:6,005,410...6,284,332
Ensembl chrNW_004936496:6,008,277...6,284,346
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936659:2,750,015...2,765,914
Ensembl chrNW_004936659:2,750,537...2,765,753
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936608:1,353,905...1,464,636
Ensembl chrNW_004936608:1,353,897...1,464,636
JBrowse link
G Prrg4 proline rich and Gla domain 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936533:5,032,718...5,053,452
Ensembl chrNW_004936533:5,032,581...5,053,529
JBrowse link
G Prss56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936525:4,568,854...4,574,332
Ensembl chrNW_004936525:4,568,802...4,574,396
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:23376645 PMID:27022031 RGD:12802341 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Rassf8 Ras association domain family member 8 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936548:1,353,237...1,444,176
Ensembl chrNW_004936548:1,352,902...1,444,202
JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chrNW_004936556:4,873,331...4,875,608
Ensembl chrNW_004936556:4,873,331...4,875,608
JBrowse link
G Rnf39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936723:967,376...972,496
Ensembl chrNW_004936723:967,263...975,952
JBrowse link
G Rnf43 ring finger protein 43 exacerbates ISO CTD Direct Evidence: marker/mechanism
associated with opisthorchiasis;DNA:SNPs:multiple: (human)
CTD
RGD
PMID:22561520 RGD:151361227 NCBI chrNW_004936490:4,660,904...4,742,669
Ensembl chrNW_004936490:4,683,725...4,741,828
JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936505:5,544,011...6,747,417
Ensembl chrNW_004936505:5,548,164...6,094,225
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chrNW_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910
JBrowse link
G Slc4a4 solute carrier family 4 member 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936598:3,391,587...3,713,629
Ensembl chrNW_004936598:3,391,575...3,713,635
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chrNW_004936596:3,176,009...3,188,637
Ensembl chrNW_004936596:3,177,422...3,188,637
JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression
treatment
ISO RGD PMID:24131658 PMID:25475870 PMID:28347255 RGD:151361214 RGD:151361287 RGD:151361294 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
JBrowse link
G Socs3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chrNW_004936594:2,932,297...2,935,358
Ensembl chrNW_004936594:2,933,747...2,934,451
JBrowse link
G Sox17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
JBrowse link
G Sox2 SRY-box transcription factor 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936566:1,630,698...1,632,607
Ensembl chrNW_004936566:1,631,822...1,632,613
JBrowse link
G Tgfb1 transforming growth factor beta 1 disease_progression ISO protein:increased expression:pancreas RGD PMID:12632524 PMID:16083599 RGD:1299231 RGD:2325020 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430
JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969 PMID:12213730 PMID:16465407 RGD:2325024 RGD:2325026 RGD:2325027 NCBI chrNW_004936471:3,064,466...3,081,125
Ensembl chrNW_004936471:3,064,422...3,081,949
JBrowse link
G Tnc tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 severity ISO protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chrNW_004936560:5,124,955...5,138,988
Ensembl chrNW_004936560:5,128,843...5,138,345
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
G Ttr transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566
JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
JBrowse link
G Wdhd1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chrNW_004936697:129,821...184,238
Ensembl chrNW_004936697:130,105...183,576
JBrowse link
G Wnt9a Wnt family member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004936864:216,381...245,885
Ensembl chrNW_004936864:239,651...244,312
JBrowse link
Cholangiofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand treatment ISO RGD PMID:23820408 RGD:11352285 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO RGD PMID:22576464 RGD:10401932 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 severity ISO associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) RGD PMID:31121195 RGD:14974230 NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
JBrowse link
cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8698195 NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
G Ca2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816485 NCBI chrNW_004936544:362,591...379,151
Ensembl chrNW_004936544:362,591...380,223
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936469:18,581,855...18,650,109
Ensembl chrNW_004936469:18,581,840...18,650,123
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936490:16,440,723...16,444,679
Ensembl chrNW_004936490:16,440,693...16,444,791
JBrowse link
G LOC101964013 mucin-17 ISO mRNA:increased expression:bile duct RGD PMID:19032457 RGD:2325170 NCBI chrNW_004936543:976,794...987,062 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO mRNA:increased expression:cd4-positive helper T cells (human) RGD PMID:30690835 RGD:14975104 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:29158418 RGD:14700923 NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
JBrowse link
G Tlr2 toll like receptor 2 disease_progression ISO RGD PMID:30340822 RGD:15090860 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO OMIM:600803 MouseDO NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
G Pot1 protection of telomeres 1 ISO mRNA:decreased expression:gall bladder RGD PMID:28643740 RGD:151356941 NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chrNW_004936478:7,146,997...7,160,369
Ensembl chrNW_004936478:7,147,027...7,160,401
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD
RGD
PMID:15830394 PMID:18988797 RGD:14700991 NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chrNW_004936888:459,168...459,919
Ensembl chrNW_004936888:459,247...459,911
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chrNW_004936527:6,485,566...6,499,901
Ensembl chrNW_004936527:6,485,511...6,499,924
JBrowse link
choledocholithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chrNW_004936621:1,140,651...1,163,608
Ensembl chrNW_004936621:1,140,658...1,163,589
JBrowse link
cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 treatment
susceptibility
ISO mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
RGD
CTD
PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 More... RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571 NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO DNA:mutations: : RGD
MouseDO
PMID:11680581 PMID:26324191 RGD:11565494 RGD:1598589 NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment
disease_progression
ISO mRNA,protein:decreased expression:intestine:
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
RGD
CTD
PMID:10869290 PMID:12702498 PMID:15057744 PMID:16037978 PMID:17009103 More... RGD:11081007 RGD:11081011 RGD:15090804 RGD:1598571 RGD:1598614 NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18096675 PMID:22461449 PMID:23486593 RGD:11535162 RGD:2301060 NCBI chrNW_004936490:11,039,968...11,086,670
Ensembl chrNW_004936490:11,040,445...11,086,566
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) treatment ISO protein:altered expression:kidney, liver RGD PMID:15030973 PMID:30223280 RGD:15045612 RGD:2301085 NCBI chrNW_004936472:14,396,986...14,624,597
Ensembl chrNW_004936472:14,397,222...14,624,648
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004936508:8,093,804...8,117,467
Ensembl chrNW_004936508:8,093,804...8,116,877
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004936508:8,074,697...8,093,424
Ensembl chrNW_004936508:8,074,674...8,093,550
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936524:6,083,482...6,087,802
Ensembl chrNW_004936524:6,083,482...6,087,801
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chrNW_004936898:456,299...484,681
Ensembl chrNW_004936898:456,521...484,282
JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936560:2,562,394...2,580,261
Ensembl chrNW_004936560:2,562,748...2,580,201
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603
JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bex4 brain expressed X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936547:8,000,064...8,002,029
Ensembl chrNW_004936547:8,000,230...8,001,999
JBrowse link
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004936478:18,811,452...18,850,594
Ensembl chrNW_004936478:18,833,172...18,852,839
JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004936528:5,167,611...5,239,128
Ensembl chrNW_004936528:5,164,481...5,239,128
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936505:10,032,333...10,046,008
Ensembl chrNW_004936505:10,032,237...10,046,047
JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936605:2,505,064...3,012,322
Ensembl chrNW_004936605:2,505,231...3,011,468
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21339256 PMID:27989131 RGD:5130873 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
JBrowse link
G Cd14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chrNW_004936533:2,949,026...3,033,166 JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Clock clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004936482:17,789,834...17,900,371
Ensembl chrNW_004936482:17,794,134...17,845,303
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chrNW_004936510:3,779,930...3,806,615
Ensembl chrNW_004936510:3,781,210...3,802,693
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chrNW_004936474:9,019,044...9,020,110
Ensembl chrNW_004936474:9,019,067...9,020,110
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)
RGD PMID:21274875 PMID:22094456 PMID:22824087 RGD:8552675 RGD:8552699 RGD:8552776 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858
JBrowse link
G CUNH4orf19 chromosome unknown C4orf19 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936482:5,592,667...5,614,527
Ensembl chrNW_004936482:5,520,275...5,614,537
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936498:4,514,212...4,544,523
Ensembl chrNW_004936498:4,514,184...4,544,527
JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936653:1,554,534...1,558,832
Ensembl chrNW_004936653:1,554,553...1,559,170
JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936521:10,360,775...10,403,201
Ensembl chrNW_004936521:10,360,952...10,402,877
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
JBrowse link
G Eng endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488
JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936491:351,813...377,978
Ensembl chrNW_004936491:351,420...378,441
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
JBrowse link
G Ghr growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chrNW_004936518:235,996...380,225
Ensembl chrNW_004936518:235,990...380,272
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936476:16,389,659...16,397,603
Ensembl chrNW_004936476:16,389,639...16,397,603
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936473:2,823,183...2,856,077
Ensembl chrNW_004936473:2,823,123...2,856,077
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936627:4,167,501...4,179,596
Ensembl chrNW_004936627:4,159,214...4,179,806
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936867:742,539...747,035
Ensembl chrNW_004936867:742,501...746,930
JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936636:2,101,184...2,125,377
Ensembl chrNW_004936636:2,102,036...2,125,532
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chrNW_004936485:18,610,721...18,611,889
Ensembl chrNW_004936485:18,610,665...18,612,059
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:12826230 PMID:18607346 RGD:10046052 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Invs inversin ISO RGD PMID:10421642 RGD:155791685 NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936503:4,125,302...4,255,880
Ensembl chrNW_004936503:4,122,204...4,246,680
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chrNW_004936570:583,616...605,846
Ensembl chrNW_004936570:583,616...605,603
JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chrNW_004936479:9,584,221...9,622,330
Ensembl chrNW_004936479:9,584,221...9,610,420
JBrowse link
G LOC101954746 peroxisomal bifunctional enzyme ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936578:4,554,164...4,666,427
Ensembl chrNW_004936578:4,554,113...4,666,428
JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
JBrowse link
G LOC101958459 plasma serine protease inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936846:141,334...150,381
Ensembl chrNW_004936846:146,116...150,438
JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589
JBrowse link
G LOC101964975 interleukin-8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
JBrowse link
G LOC101969421 cytochrome P450 1A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484
JBrowse link
G LOC101970910 cytochrome P450 7A1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9797378 PMID:22461449 PMID:29655695 RGD:15090803 NCBI chrNW_004936496:4,599,138...4,605,653
Ensembl chrNW_004936496:4,599,138...4,605,653
JBrowse link
G LOC101976500 haptoglobin ISO mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chrNW_004936695:2,263,868...2,265,373
Ensembl chrNW_004936695:2,263,868...2,265,373
JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936648:2,653,252...2,671,453 JBrowse link
G Maob monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chrNW_004936502:9,907,181...10,014,756
Ensembl chrNW_004936502:9,907,180...10,014,773
JBrowse link
G Mapk13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936476:23,212,116...23,218,726
Ensembl chrNW_004936476:23,212,074...23,218,775
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232
JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936552:5,470,645...5,528,232
Ensembl chrNW_004936552:5,471,784...5,526,206
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936482:14,008,825...14,062,654
Ensembl chrNW_004936482:14,009,724...14,062,207
JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936481:5,178,595...5,319,681
Ensembl chrNW_004936481:5,178,617...5,319,698
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912 PMID:20626112 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:15776426 PMID:22550138 PMID:25741868 PMID:28492532 PMID:28700940 NCBI chrNW_004936623:802,152...904,198 JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936481:6,942,128...6,977,042
Ensembl chrNW_004936481:6,942,282...6,972,775
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:22461449 PMID:28337145 RGD:13439750 NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311
JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chrNW_004936490:15,206,194...15,213,858
Ensembl chrNW_004936490:15,206,191...15,213,867
JBrowse link
G Nr1h2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004936889:223,137...229,968
Ensembl chrNW_004936889:223,101...229,990
JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 treatment
severity
ISO CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
mutant FXR-/- mouse
mRNA, protein:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)
CTD
RGD
PMID:12949728 PMID:22461449 PMID:23178280 PMID:27090119 PMID:29235094 More... RGD:14701031 RGD:15042872 RGD:15045597 RGD:15045612 RGD:15090804 RGD:15092071 NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004936536:6,691,590...6,726,421
Ensembl chrNW_004936536:6,691,590...6,726,704
JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004936903:527,838...533,930
Ensembl chrNW_004936903:527,871...533,790
JBrowse link
G Otc ornithine transcarbamylase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936646:719,821...737,284
Ensembl chrNW_004936646:720,393...736,467
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chrNW_004936485:16,559,371...16,571,461
Ensembl chrNW_004936485:16,559,217...16,571,678
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chrNW_004936518:1,817,051...1,843,376
Ensembl chrNW_004936518:1,804,969...1,843,380
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chrNW_004936599:4,551,164...4,564,109
Ensembl chrNW_004936599:4,551,032...4,564,154
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chrNW_004936612:3,992,542...4,060,598
Ensembl chrNW_004936612:3,992,542...4,040,315
JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936531:7,055,841...7,103,810
Ensembl chrNW_004936531:7,053,039...7,104,288
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936538:7,226,570...7,233,203
Ensembl chrNW_004936538:7,226,570...7,233,185
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
JBrowse link
G Slc10a1 solute carrier family 10 member 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 PMID:29655695 RGD:15090803 RGD:15090804 NCBI chrNW_004936495:12,958,983...12,975,755
Ensembl chrNW_004936495:12,959,077...12,975,755
JBrowse link
G Slc10a7 solute carrier family 10 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936535:2,792,576...3,038,504
Ensembl chrNW_004936535:2,792,293...3,038,512
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936683:803,186...910,143
Ensembl chrNW_004936683:803,134...910,284
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004936531:8,457,779...8,471,244
Ensembl chrNW_004936531:8,457,957...8,471,258
JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004936485:13,885,067...13,976,623
Ensembl chrNW_004936485:13,885,091...13,976,550
JBrowse link
G Slc51a solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chrNW_004936784:864,019...887,755
Ensembl chrNW_004936784:866,350...884,355
JBrowse link
G Slc51b SLC51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chrNW_004936471:25,355,849...25,379,481
Ensembl chrNW_004936471:25,355,761...25,381,763
JBrowse link
G Slco1a2 solute carrier organic anion transporter family member 1A2 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chrNW_004936548:5,507,085...5,562,624 JBrowse link
G Slco1b3 solute carrier organic anion transporter family member 1B3 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chrNW_004936548:5,593,908...5,682,187 JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936514:4,456,498...4,462,436
Ensembl chrNW_004936514:4,456,484...4,462,987
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936542:6,192,407...6,352,835
Ensembl chrNW_004936542:6,192,407...6,352,424
JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chrNW_004936704:832,651...901,658
Ensembl chrNW_004936704:837,057...901,392
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936471:4,238,883...4,251,291
Ensembl chrNW_004936471:4,238,845...4,251,350
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936801:1,041,946...1,069,617
Ensembl chrNW_004936801:1,041,708...1,069,776
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936482:18,687,088...18,721,734
Ensembl chrNW_004936482:18,687,046...18,721,757
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chrNW_004936664:2,626,810...2,655,290
Ensembl chrNW_004936664:2,626,764...2,655,340
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946
JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
JBrowse link
G Tmed7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936742:779,964...791,738
Ensembl chrNW_004936742:745,336...791,883
JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936512:2,327,765...2,765,488
Ensembl chrNW_004936512:2,327,730...2,765,697
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936529:5,997,459...6,010,776
Ensembl chrNW_004936529:5,996,707...6,014,227
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 PMID:34608165 NCBI chrNW_004936869:169,118...226,495
Ensembl chrNW_004936869:167,337...226,314
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chrNW_004936475:19,295,047...19,324,340
Ensembl chrNW_004936475:19,295,041...19,324,965
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936569:914,511...938,481
Ensembl chrNW_004936569:914,512...938,608
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936541:7,782,836...7,812,142
Ensembl chrNW_004936541:7,783,322...7,812,054
JBrowse link
G Xdh xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238
JBrowse link
chronic cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO RGD PMID:17852852 RGD:14694983 NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More... NCBI chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725
JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis ClinVar PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532 NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800
JBrowse link
G Tmem67 transmembrane protein 67 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
CTD
RGD
PMID:19058225 PMID:19574260 RGD:11535944 RGD:11535946 NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 More... NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603
JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 More... NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH syndrome 1 OMIM
ClinVar
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 More... NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome 2 OMIM
ClinVar
PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 More... NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603
JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome 3 OMIM
ClinVar
PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 More... NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618
JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144
JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chrNW_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chrNW_004936652:3,431,588...3,468,770
Ensembl chrNW_004936652:3,431,171...3,472,071
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chrNW_004936784:515,608...539,915 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076
JBrowse link
congenital bile acid synthesis defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect ClinVar NCBI chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796
JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition OMIM
ClinVar
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 More... NCBI chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 OMIM
ClinVar
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 More... NCBI chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796
JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101955077 cytochrome P450 7B1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 OMIM
ClinVar
PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 More... NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 OMIM
ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929
JBrowse link
G Slc45a2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936518:7,094,949...7,139,961
Ensembl chrNW_004936518:7,095,038...7,137,277
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 OMIM
ClinVar
PMID:25168382 PMID:25741868 PMID:28492532 NCBI chrNW_004936537:4,659,685...4,745,992
Ensembl chrNW_004936537:4,659,484...4,746,616
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27647924 More... NCBI chrNW_004936473:2,494,568...2,525,956
Ensembl chrNW_004936473:2,494,554...2,526,787
JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chrNW_004936473:3,382,618...3,476,049
Ensembl chrNW_004936473:3,382,260...3,476,052
JBrowse link
G Rac1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chrNW_004936750:107,689...122,679
Ensembl chrNW_004936750:107,689...122,676
JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
extrahepatic bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936889:231,373...250,985
Ensembl chrNW_004936889:231,373...250,987
Ensembl chrNW_004936889:231,373...250,987
JBrowse link
G Xpo1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chrNW_004936491:6,921,753...6,962,062
Ensembl chrNW_004936491:6,921,319...6,962,343
JBrowse link
extrahepatic cholestasis 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,protein:increased expression:liver, basolateral plasma membrane (rat) RGD PMID:28660384 RGD:21203516 NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004936472:14,396,986...14,624,597
Ensembl chrNW_004936472:14,397,222...14,624,648
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930
JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122
JBrowse link
G Gjb1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898
JBrowse link
G Gjb2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chrNW_004936627:4,451,847...4,473,163
Ensembl chrNW_004936627:4,451,823...4,473,223
JBrowse link
G Hnf1a HNF1 homeobox A ISO mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) RGD PMID:15723437 RGD:14700989 NCBI chrNW_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936659:785,059...793,775
Ensembl chrNW_004936659:782,340...793,688
JBrowse link
G Lgals1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004936492:3,407,704...3,411,197
Ensembl chrNW_004936492:3,407,049...3,411,222
JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589
JBrowse link
G LOC101970910 cytochrome P450 7A1 treatment ISO mRNA:decreased expression:liver, nucleus (rat)
mRNA:decreased expression:liver (rat)
RGD PMID:28660384 PMID:29360226 RGD:14995480 RGD:21203516 NCBI chrNW_004936496:4,599,138...4,605,653
Ensembl chrNW_004936496:4,599,138...4,605,653
JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004936695:2,263,868...2,265,373
Ensembl chrNW_004936695:2,263,868...2,265,373
JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936619:1,889,841...1,932,646
Ensembl chrNW_004936619:1,889,708...1,932,646
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936728:1,775,746...1,893,895
Ensembl chrNW_004936728:1,775,641...1,893,907
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936739:551,678...602,027
Ensembl chrNW_004936739:551,629...602,047
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070
JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936473:27,672,237...27,676,339
Ensembl chrNW_004936473:27,671,797...27,676,372
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30026087 PMID:31900718 RGD:21201303 NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 disease_progression
treatment
ISO human gene in mouse model
protein:increased expression:liver (rat)
mRNA:increased expression:liver (rat)
RGD PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226 RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205 NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
JBrowse link
G Oprm1 opioid receptor mu 1 ISO mRNA:decreased expression:hypothalamus, hippocampus RGD PMID:25290008 RGD:401842371 NCBI chrNW_004936489:6,506,207...6,567,136
Ensembl chrNW_004936489:6,506,207...6,548,946
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
JBrowse link
G Ptn pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004936592:1,706,979...1,806,345
Ensembl chrNW_004936592:1,707,693...1,730,617
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chrNW_004936535:8,094,479...8,143,108
Ensembl chrNW_004936535:8,094,178...8,137,580
JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chrNW_004936489:11,534,095...11,556,759
Ensembl chrNW_004936489:11,534,095...11,556,745
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chrNW_004936489:11,605,403...11,627,786
Ensembl chrNW_004936489:11,594,480...11,627,786
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 PMID:31932644 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241
JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
Familial Primary Biliary Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Familial primary biliary cirrhosis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chrNW_004936503:5,414,330...5,539,895
Ensembl chrNW_004936503:5,497,832...5,539,090
JBrowse link
fascioliasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:serum RGD PMID:10431747 RGD:6484593 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101961358 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708
JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome OMIM
ClinVar
PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO DNA:deletion mutation:exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
RGD
ClinVar
PMID:14671619 PMID:25741868 PMID:28492532 RGD:11251681 NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:28492532 NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
JBrowse link
G Klf1 KLF transcription factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD
MouseDO
PMID:20691777 RGD:10769342 NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
JBrowse link
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:25741868 NCBI chrNW_004936740:1,765,462...1,766,403
Ensembl chrNW_004936740:1,765,462...1,766,403
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:36231035 NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISO OMIM:182900 MouseDO NCBI chrNW_004936491:14,856,764...14,971,161
Ensembl chrNW_004936491:14,862,531...14,971,329
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive OMIM
ClinVar
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO OMIM:182900 MouseDO NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM:182900 MouseDO NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chrNW_004936495:8,373,985...8,414,616
Ensembl chrNW_004936495:8,398,397...8,414,006
JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition OMIM
ClinVar
PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar PMID:25741868 NCBI chrNW_004936740:1,765,462...1,766,403
Ensembl chrNW_004936740:1,765,462...1,766,403
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive OMIM
ClinVar
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 ClinVar PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 5 OMIM
ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
JBrowse link
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome OMIM
ClinVar
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 NCBI chrNW_004936578:98,489...113,125
Ensembl chrNW_004936578:98,273...113,153
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome ClinVar PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
JBrowse link
intrahepatic cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More... NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression
exacerbates
ISO mRNA,protein:decreased expression:intrahepatic bile duct (human) RGD PMID:27433094 PMID:30849962 PMID:31665232 RGD:126775257 RGD:126781775 RGD:14974231 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase severity ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Foxp3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 disease_progression ISO protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chrNW_004936835:316,767...321,999
Ensembl chrNW_004936835:316,767...321,990
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 disease_progression ISO protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chrNW_004936476:15,830,459...15,836,994
Ensembl chrNW_004936476:15,830,459...15,835,535
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 no_association ISO DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO mRNA:decreased expression:liver (mouse)
DNA:mutations: :
RGD PMID:22824796 PMID:32463951 RGD:149735894 RGD:14985256 NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341
JBrowse link
G Kdm5c lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chrNW_004936751:159,628...204,136
Ensembl chrNW_004936751:167,920...203,966
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD
MouseDO
PMID:24139215 RGD:14398746 NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
JBrowse link
G Lcn2 lipocalin 2 treatment ISO Protein:increased expression:bile duct RGD PMID:24939880 RGD:126790491 NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
JBrowse link
G LOC101962705 membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chrNW_004936637:985,706...1,154,670
Ensembl chrNW_004936637:560,298...1,151,850
JBrowse link
G Lrp1b LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chrNW_004936469:35,000,773...36,160,216
Ensembl chrNW_004936469:35,203,594...36,159,283
JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:27864835 PMID:30377796 RGD:150340628 RGD:152998946 NCBI chrNW_004936473:3,382,618...3,476,049
Ensembl chrNW_004936473:3,382,260...3,476,052
JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
JBrowse link
G Rnf43 ring finger protein 43 exacerbates ISO mRNA, protein:decreased expression:liver, bile duct epithelium (human) RGD PMID:26980022 RGD:151361125 NCBI chrNW_004936490:4,660,904...4,742,669
Ensembl chrNW_004936490:4,683,725...4,741,828
JBrowse link
G Smad4 SMAD family member 4 disease_progression ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 PMID:23981608 RGD:18936999 RGD:21066336 NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
JBrowse link
G Tep1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chrNW_004936877:575,264...613,965
Ensembl chrNW_004936877:575,037...641,642
JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 susceptibility ISO ClinVar Annotator: match by term: Progressive intrahepatic cholestasis RGD
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... RGD:1598583 NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO ClinVar Annotator: match by term: Progressive intrahepatic cholestasis RGD
ClinVar
PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More... RGD:14695045 NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chrNW_004936543:1,052,692...1,058,070
Ensembl chrNW_004936543:1,052,732...1,058,483
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
RGD
ClinVar
PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 More... RGD:1599397 NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CBAS1, OMIM:607765 RGD PMID:12679481 RGD:1599971 NCBI chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553
JBrowse link
G LOC101964975 interleukin-8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
JBrowse link
G LOC101973029 cytochrome P450 2E1 ISO RGD PMID:29404441 RGD:14700873 NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102
JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chrNW_004936594:5,425,117...5,430,057
Ensembl chrNW_004936594:5,424,940...5,430,097
JBrowse link
G Nr0b2 nuclear receptor subfamily 0 group B member 2 ISO mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chrNW_004936474:11,316,857...11,319,669
Ensembl chrNW_004936474:11,316,700...11,319,669
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chrNW_004936489:11,534,095...11,556,759
Ensembl chrNW_004936489:11,534,095...11,556,745
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chrNW_004936489:11,605,403...11,627,786
Ensembl chrNW_004936489:11,594,480...11,627,786
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chrNW_004936503:5,414,330...5,539,895
Ensembl chrNW_004936503:5,497,832...5,539,090
JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004936504:12,530,546...12,546,556
Ensembl chrNW_004936504:12,530,528...12,546,556
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
JBrowse link
intrahepatic cholestasis of pregnancy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 OMIM
ClinVar
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 More... NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 OMIM
ClinVar
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More... NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
Isolated Caroli Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 More... NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
JBrowse link
Klatskin's tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Gata6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
JBrowse link
G Kmt2c lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism ISO DNA:substitutions, insertion/deletions: (human) RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936496:6,005,410...6,284,332
Ensembl chrNW_004936496:6,008,277...6,284,346
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps50 VPS50 subunit of EARP/GARPII complex ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis ClinVar
OMIM
PMID:25741868 PMID:34037727 NCBI chrNW_004936803:530,543...651,461
Ensembl chrNW_004936803:530,402...651,502
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 chrNW_004936475:19,295,047...19,324,340
Ensembl chrNW_004936475:19,295,041...19,324,965
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004936528:8,005,223...8,007,586
Ensembl chrNW_004936528:8,005,189...8,007,643
JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO RGD PMID:9161836 RGD:11036102 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580
JBrowse link
G Irf5 interferon regulatory factor 5 ISO mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chrNW_004936579:6,138,372...6,149,531
Ensembl chrNW_004936579:6,138,281...6,145,205
JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936561:3,017,471...3,035,481
Ensembl chrNW_004936561:3,016,926...3,035,552
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chrNW_004936485:13,766,221...13,771,215 JBrowse link
G Tlr2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chrNW_004936498:3,059,700...3,066,112
Ensembl chrNW_004936498:3,059,297...3,066,197
JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Osteootohepatoenteric syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chrNW_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218
JBrowse link
periampullary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Periampullary adenoma ClinVar PMID:25741868 PMID:27087319 PMID:28492532 PMID:32860008 NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
JBrowse link
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 chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 disease_progression
treatment
ISO DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18671305 PMID:20040336 PMID:21209952 PMID:30682444 RGD:14694982 RGD:153297773 NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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 chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393
JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chrNW_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702
JBrowse link
G Agt angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354
JBrowse link
G Ca1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chrNW_004936544:246,797...257,798
Ensembl chrNW_004936544:246,797...257,650
JBrowse link
G Ca2 carbonic anhydrase 2 ISO RGD PMID:12806141 RGD:408425977 NCBI chrNW_004936544:362,591...379,151
Ensembl chrNW_004936544:362,591...380,223
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 chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:increased expression:liver (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936542:3,400,129...3,403,628
Ensembl chrNW_004936542:3,399,845...3,403,634
JBrowse link
G Cd68 CD68 molecule disease_progression ISO protein:increased expression:liver (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Cd80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936475:16,738,772...16,775,000
Ensembl chrNW_004936475:16,738,748...16,775,123
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chrNW_004936485:14,914,644...14,917,265
Ensembl chrNW_004936485:14,914,644...14,916,458
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936530:9,089,478...9,264,563
Ensembl chrNW_004936530:9,089,476...9,264,592
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004936483:17,216,288...17,296,430
Ensembl chrNW_004936483:17,216,213...17,294,534
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004936609:1,793,027...1,858,586
Ensembl chrNW_004936609:1,793,027...1,858,597
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility
disease_progression
no_association
ISO 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:17482523 PMID:21594562 RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936542:3,860,536...3,872,528
Ensembl chrNW_004936542:3,860,536...3,872,116
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783
JBrowse link
G Dag1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124
JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936567:6,131,433...6,353,003
Ensembl chrNW_004936567:6,134,179...6,348,086
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chrNW_004936694:704,948...715,846
Ensembl chrNW_004936694:704,692...710,501
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15651265 RGD:9685530 NCBI chrNW_004936669:901,192...906,765
Ensembl chrNW_004936669:901,104...906,782
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment ISO RGD PMID:20132096 RGD:329970291 NCBI chrNW_004936697:232,048...275,420 JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
JBrowse link
G Hhip hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chrNW_004936535:4,210,305...4,305,930
Ensembl chrNW_004936535:4,210,305...4,305,930
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
JBrowse link
G Icam3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936659:667,503...673,969 JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936478:20,494,190...20,499,001
Ensembl chrNW_004936478:20,494,203...20,499,001
JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
JBrowse link
G Il12a interleukin 12A susceptibility
treatment
ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs62270414(human)
RGD
CTD
PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chrNW_004936519:6,166,060...6,180,652
Ensembl chrNW_004936519:6,175,261...6,180,396
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chrNW_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076
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 chrNW_004936596:3,062,620...3,076,349 JBrowse link
G Il1b interleukin 1 beta disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635