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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_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301 		JBrowse link
G Fech ferrochelatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10464147 NCBI chrNW_004624792:3,067,270...3,101,698
Ensembl chrNW_004624792:3,064,841...3,102,345 		JBrowse link
G Magee1 MAGE family member E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30515189 NCBI chrNW_004624836:4,420,633...4,423,996
Ensembl chrNW_004624836:4,420,509...4,424,039 		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_004624768:17,300,913...17,315,848
Ensembl chrNW_004624768:17,301,277...17,314,353 		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: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
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 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488 		JBrowse link
G Notch2 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_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426 		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_004624741:10,986,274...11,009,810
Ensembl chrNW_004624741:10,986,283...11,010,046 		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_004624741:8,762,556...8,824,517
Ensembl chrNW_004624741:8,763,496...8,824,468 		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_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488 		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_004624741:10,454,012...10,468,662
Ensembl chrNW_004624741:10,453,982...10,468,969 		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_004624741:11,323,935...11,447,669
Ensembl chrNW_004624741:11,425,368...11,435,706 		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_004624741:10,476,172...10,823,164
Ensembl chrNW_004624741:10,476,192...10,608,745 		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_004624741:9,030,817...9,859,597
Ensembl chrNW_004624741:9,031,204...9,856,556 		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_004624741:10,047,899...10,435,088
Ensembl chrNW_004624741:10,277,805...10,430,327 		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_004624741:11,447,398...11,638,083
Ensembl chrNW_004624741:11,463,963...11,633,632 		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_004624741:11,218,259...11,303,406
Ensembl chrNW_004624741:11,274,490...11,302,813 		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_004624741:8,859,530...8,908,404
Ensembl chrNW_004624741:8,863,533...8,908,185 		JBrowse link
ALAGILLE SYNDROME 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 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_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426 		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_004624734:24,435,400...24,464,883
Ensembl chrNW_004624734:24,438,495...24,463,923 		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_004624768:17,221,809...17,264,264
Ensembl chrNW_004624768:17,244,002...17,264,441 		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_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		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_004624734:24,435,400...24,464,883
Ensembl chrNW_004624734:24,438,495...24,463,923 		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_004624768:17,221,809...17,264,264
Ensembl chrNW_004624768:17,244,002...17,264,441 		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_004624734:24,435,400...24,464,883
Ensembl chrNW_004624734:24,438,495...24,463,923 		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_004624792:3,154,512...3,287,681
Ensembl chrNW_004624792:3,156,367...3,287,751 		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_004624787:6,653,849...6,733,058
Ensembl chrNW_004624787:6,650,772...6,733,195 		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_004624746:1,325,368...1,349,616 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_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		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_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chrNW_004624907:1,752,322...1,755,308 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_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		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_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:33357406 NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704 		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_004624782:8,752,510...8,780,972
Ensembl chrNW_004624782:8,751,866...8,780,884 		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_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859 		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_004624832:4,117,597...4,135,092
Ensembl chrNW_004624832:4,117,341...4,135,035 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chrNW_004624768:2,826,848...3,034,195
Ensembl chrNW_004624768:2,828,324...3,034,302 		JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msln mesothelin ISO protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chrNW_004624913:1,566,516...1,576,605
Ensembl chrNW_004624913:1,570,832...1,580,058 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chrNW_004624746:1,325,368...1,349,616 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_004624744:30,190,625...30,420,501
Ensembl chrNW_004624744:30,190,513...30,418,467 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chrNW_004624740:28,038,216...28,047,252
Ensembl chrNW_004624740:28,036,731...28,047,364 		JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		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_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		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_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889 		JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chrNW_004624737:18,935,686...18,963,907 JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chrNW_004624828:1,510,104...1,579,727 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chrNW_004624730:61,153,753...61,176,859 JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326076 RGD:2326077 NCBI chrNW_004624784:8,339,582...8,635,025
Ensembl chrNW_004624784:8,339,916...8,636,012 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chrNW_004624764:9,192,067...9,218,617
Ensembl chrNW_004624764:9,191,556...9,248,252 		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_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012 		JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chrNW_004624734:3,363,084...3,372,790
Ensembl chrNW_004624734:3,363,001...3,372,694 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chrNW_004624747:10,030,034...10,048,554 JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:		 RGD PMID:10726686 PMID:30059753 RGD:14695528 RGD:14695529 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		JBrowse link
G Sox17 SRY-box transcription factor 17 ISO MouseDO NCBI chrNW_004624735:1,276,382...1,278,584
Ensembl chrNW_004624735:1,276,302...1,279,181 		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_004624804:8,092,700...8,105,478
Ensembl chrNW_004624804:8,093,346...8,106,193 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004624794:11,738,137...11,765,579
Ensembl chrNW_004624794:11,738,487...11,769,117 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742 		JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		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_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chrNW_004624765:19,531,910...19,588,703
Ensembl chrNW_004624765:19,532,100...19,586,804 		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_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324 		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_004624840:7,624,744...7,702,283
Ensembl chrNW_004624840:7,624,687...7,699,997 		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_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324 		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_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chrNW_004624774:8,211,723...8,215,962
Ensembl chrNW_004624774:8,211,984...8,213,240 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325679 RGD:2325680 RGD:2325682 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chrNW_004624966:168,244...220,430
Ensembl chrNW_004624966:168,250...220,522 		JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chrNW_004624781:11,781,893...11,820,440
Ensembl chrNW_004624781:11,781,886...11,821,816 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:loss of heterozygosity
DNA:hypermethylation:promoter		 RGD PMID:10212000 PMID:15467712 RGD:2317198 RGD:2317205 NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Asph aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chrNW_004624744:30,190,625...30,420,501
Ensembl chrNW_004624744:30,190,513...30,418,467 		JBrowse link
G Atg101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chrNW_004624816:255,443...261,636
Ensembl chrNW_004624816:255,432...262,151 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Birc6 baculoviral IAP repeat containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004624738:13,990,997...14,246,741
Ensembl chrNW_004624738:13,991,022...14,246,225 		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_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004624823:6,857,649...6,861,219
Ensembl chrNW_004624823:6,859,356...6,860,426 		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_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271 		JBrowse link
G Epor erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chrNW_004624828:3,181,772...3,187,242
Ensembl chrNW_004624828:3,181,957...3,187,231 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		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_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chrNW_004624740:28,038,216...28,047,252
Ensembl chrNW_004624740:28,036,731...28,047,364 		JBrowse link
G Gnas GNAS complex locus disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:393T>C (human)		 CTD
RGD		 PMID:17356712 PMID:22561520 RGD:1601377 NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chrNW_004624893:608,744...627,600
Ensembl chrNW_004624893:608,540...628,580 		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_004624739:30,233,589...30,307,508
Ensembl chrNW_004624739:30,236,146...30,307,356 		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_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004624765:7,806,560...7,825,520 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		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_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		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_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022 		JBrowse link
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624749:6,549,112...6,586,409
Ensembl chrNW_004624749:6,511,584...6,586,511 		JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chrNW_004624782:11,981,781...12,008,362 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_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Ins insulin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624767:14,999,088...15,000,035
Ensembl chrNW_004624767:14,999,088...15,000,035 		JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chrNW_004624783:15,349,416...15,892,011
Ensembl chrNW_004624783:15,351,870...15,891,057 		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_004624761:14,733,912...14,831,428 JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chrNW_004624816:103,285...168,486
Ensembl chrNW_004624816:105,758...134,567 		JBrowse link
G LOC101716773 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_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425 		JBrowse link
G LOC101718508 cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chrNW_004624739:5,411,192...5,413,995
Ensembl chrNW_004624739:5,411,273...5,413,995 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)		 RGD PMID:14656942 PMID:16818635 RGD:2317578 RGD:2317601 NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		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_004624807:5,627,734...5,655,218
Ensembl chrNW_004624807:5,627,194...5,655,222 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889 		JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chrNW_004624737:18,935,686...18,963,907 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_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		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_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chrNW_004624913:1,566,516...1,576,605
Ensembl chrNW_004624913:1,570,832...1,580,058 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased secretion:bile
protein:increased expression:serum
mRNA:increased expression:bile duct
protein:increased expression:bile duct:		 RGD PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217 RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chrNW_004624828:1,510,104...1,579,727 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004624766:21,493,125...21,522,535 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_004624730:61,153,753...61,176,859 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO mRNA:increased expression:bile duct
protein:increased expression:serum		 RGD PMID:11680592 PMID:14508831 RGD:2324948 RGD:2324990 NCBI chrNW_004624766:21,439,023...21,461,108 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004624766:21,398,595...21,425,755 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chrNW_004624766:21,549,201...21,566,976 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chrNW_004624784:8,339,582...8,635,025
Ensembl chrNW_004624784:8,339,916...8,636,012 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bile duct		 CTD
RGD		 PMID:16094703 PMID:16818635 RGD:2325280 NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271 		JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		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_004624750:7,222,306...7,303,809
Ensembl chrNW_004624750:7,219,251...7,303,834 		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_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196 		JBrowse link
G Osbp2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chrNW_004624747:7,097,558...7,358,692 JBrowse link
G Osbpl7 oxysterol binding protein like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chrNW_004624795:4,468,767...4,479,654
Ensembl chrNW_004624795:4,469,551...4,479,798 		JBrowse link
G Panx2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624752:565,357...575,064
Ensembl chrNW_004624752:565,357...575,069 		JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chrNW_004624750:18,562,270...18,710,397
Ensembl chrNW_004624750:18,562,221...18,705,540 		JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004624822:4,529,350...4,666,714
Ensembl chrNW_004624822:4,529,007...4,663,165 		JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004624832:1,194,472...1,223,382
Ensembl chrNW_004624832:1,210,070...1,223,456 		JBrowse link
G Pes1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chrNW_004624747:6,932,691...6,947,599
Ensembl chrNW_004624747:6,933,081...6,947,423 		JBrowse link
G Pir pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624829:181,918...286,348
Ensembl chrNW_004624829:180,129...286,429 		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_004624740:7,447,554...7,450,707
Ensembl chrNW_004624740:7,447,554...7,450,641 		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_004624830:6,318,352...6,584,232
Ensembl chrNW_004624830:6,317,968...6,581,892 		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_004624744:22,941,194...23,208,987
Ensembl chrNW_004624744:22,946,979...23,172,122 		JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004624901:1,319,426...1,336,848
Ensembl chrNW_004624901:1,319,062...1,336,744 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004624742:13,243,248...13,357,873
Ensembl chrNW_004624742:13,242,593...13,357,986 		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_004624767:14,335,265...14,387,271
Ensembl chrNW_004624767:14,334,465...14,387,270 		JBrowse link
G Prss56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624843:5,281,581...5,287,060
Ensembl chrNW_004624843:5,281,709...5,287,026 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23376645 PMID:27022031 RGD:12802341 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		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_004624752:13,050,684...13,169,321
Ensembl chrNW_004624752:13,050,491...13,137,192 		JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chrNW_004624749:23,993,755...23,995,923 JBrowse link
G Rnf39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624754:25,331,126...25,348,957
Ensembl chrNW_004624754:25,331,070...25,335,153 		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_004624871:191,534...259,134
Ensembl chrNW_004624871:191,546...259,120 		JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004624745:800,963...2,121,445
Ensembl chrNW_004624745:804,797...1,390,551 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chrNW_004624764:9,192,067...9,218,617
Ensembl chrNW_004624764:9,191,556...9,248,252 		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_004624890:2,523,368...2,940,081
Ensembl chrNW_004624890:2,523,327...2,919,148 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 treatment
disease_progression		 ISO RGD PMID:24131658 PMID:25475870 PMID:28347255 RGD:151361214 RGD:151361287 RGD:151361294 NCBI chrNW_004624746:1,325,368...1,349,616 JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chrNW_004624801:7,841,230...7,843,912
Ensembl chrNW_004624801:7,840,889...7,843,860 		JBrowse link
G Sox17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chrNW_004624735:1,276,382...1,278,584
Ensembl chrNW_004624735:1,276,302...1,279,181 		JBrowse link
G Sox2 SRY-box transcription factor 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624730:59,570,879...59,573,001
Ensembl chrNW_004624730:59,570,915...59,571,871 		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_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chrNW_004624788:8,447,679...8,535,821
Ensembl chrNW_004624788:8,447,542...8,535,959 		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_004624804:6,849,660...6,866,164
Ensembl chrNW_004624804:6,849,670...6,867,684 		JBrowse link
G Tnc tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chrNW_004624760:20,044,900...20,137,260
Ensembl chrNW_004624760:20,044,826...20,137,616 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Ttr transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Wdhd1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chrNW_004624731:14,382,820...14,430,055
Ensembl chrNW_004624731:14,383,083...14,430,348 		JBrowse link
G Wnt9a Wnt family member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chrNW_004624937:776,810...797,365
Ensembl chrNW_004624937:776,810...797,310 		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_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		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_004624765:7,806,560...7,825,520 JBrowse link
cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816485 NCBI chrNW_004624744:6,168,030...6,183,407
Ensembl chrNW_004624744:6,167,606...6,183,538 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004624732:5,348,589...5,499,826
Ensembl chrNW_004624732:5,403,956...5,499,855 		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_004624772:10,358,554...10,369,371 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:29158418 RGD:14700923 NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004624835:2,363,059...2,436,536
Ensembl chrNW_004624835:2,363,139...2,437,643 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Tlr2 toll like receptor 2 disease_progression ISO RGD PMID:30340822 RGD:15090860 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO mRNA:decreased expression:gall bladder RGD PMID:28643740 RGD:151356941 NCBI chrNW_004624783:11,138,222...11,223,329
Ensembl chrNW_004624783:11,138,303...11,223,044 		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_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15830394 PMID:18988797 RGD:14700991 NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324 		JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chrNW_004624766:21,841,994...21,842,754
Ensembl chrNW_004624766:21,842,014...21,842,683 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chrNW_004624800:5,545,380...5,560,789 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_004624734:932,877...950,509
Ensembl chrNW_004624734:931,946...950,553 		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 protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)		 RGD
CTD		 PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 More... RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571 NCBI chrNW_004624787:6,653,849...6,733,058
Ensembl chrNW_004624787:6,650,772...6,733,195 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 disease_progression
treatment		 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_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460 		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_004624795:6,516,384...6,558,332
Ensembl chrNW_004624795:6,516,224...6,557,892 		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_004624879:1,811,686...2,060,221
Ensembl chrNW_004624879:1,811,651...2,060,099 		JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004624738:25,287,574...25,310,643
Ensembl chrNW_004624738:25,287,841...25,309,828 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004624738:25,310,740...25,330,097
Ensembl chrNW_004624738:25,310,917...25,329,595 		JBrowse link
G Ace angiotensin I converting enzyme ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		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_004624760:1,865,474...1,889,394
Ensembl chrNW_004624760:1,865,376...1,889,203 		JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chrNW_004625024:32,237...60,983
Ensembl chrNW_004625024:32,348...63,242 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G Alb albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624825:3,538,210...3,539,640 JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chrNW_004624773:385,583...468,270
Ensembl chrNW_004624773:385,594...468,270 		JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624886:2,702,328...2,721,954
Ensembl chrNW_004624886:2,702,960...2,722,357 		JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chrNW_004624784:12,244,565...12,246,790
Ensembl chrNW_004624784:12,244,646...12,246,790 		JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G Arg1 arginase 1 ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chrNW_004624753:5,737,720...5,749,313
Ensembl chrNW_004624753:5,737,237...5,752,966 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624752:14,074,701...14,166,075
Ensembl chrNW_004624752:14,106,884...14,164,064 		JBrowse link
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004624740:17,462,201...17,505,725
Ensembl chrNW_004624740:17,462,537...17,478,269 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004624766:5,295,120...5,391,645
Ensembl chrNW_004624766:5,317,635...5,391,645 		JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624745:5,954,812...5,975,899
Ensembl chrNW_004624745:5,953,305...5,976,331 		JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624783:13,142,036...13,701,430
Ensembl chrNW_004624783:13,142,198...13,700,683 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21339256 PMID:27989131 RGD:5130873 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Cd14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Clock clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004624761:13,915,277...14,038,596
Ensembl chrNW_004624761:13,916,653...14,036,164 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chrNW_004624799:6,100,709...6,126,530
Ensembl chrNW_004624799:6,101,728...6,126,520 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chrNW_004624764:8,388,375...8,422,961
Ensembl chrNW_004624764:8,389,444...8,390,538 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO mRNA:increased expression:liver (mouse)
mRNA:increased expression:liver (rat)		 RGD PMID:21274875 PMID:22094456 PMID:22824087 RGD:8552675 RGD:8552699 RGD:8552776 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chrNW_004624730:26,458,554...26,510,796
Ensembl chrNW_004624730:26,462,550...26,511,078 		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_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624817:1,386,876...1,418,129
Ensembl chrNW_004624817:1,386,764...1,418,300 		JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624739:21,187,581...21,193,345
Ensembl chrNW_004624739:21,187,581...21,193,337 		JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624754:2,175,204...2,227,405
Ensembl chrNW_004624754:2,172,942...2,227,529 		JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624730:71,323,713...71,354,805
Ensembl chrNW_004624730:71,323,484...71,357,109 		JBrowse link
G Eng endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624833:7,964,815...7,992,277
Ensembl chrNW_004624833:7,964,810...7,992,582 		JBrowse link
G F2rl3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chrNW_004624908:761,067...764,562
Ensembl chrNW_004624908:762,356...766,563 		JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chrNW_004624858:5,848,817...5,856,448 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		JBrowse link
G Ghr growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624754:16,052,001...16,060,925
Ensembl chrNW_004624754:16,053,822...16,060,871 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624822:5,078,925...5,189,253
Ensembl chrNW_004624822:5,079,634...5,145,503 		JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624772:14,981,777...15,022,699
Ensembl chrNW_004624772:14,981,666...15,023,173 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624772:17,363,062...17,367,320
Ensembl chrNW_004624772:17,360,207...17,367,373 		JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624737:9,228,748...9,258,136
Ensembl chrNW_004624737:9,228,605...9,254,024 		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_004624782:14,054,028...14,057,248
Ensembl chrNW_004624782:14,053,765...14,057,241 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		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_004624741:897,038...898,249
Ensembl chrNW_004624741:896,932...898,343 		JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624756:6,816,364...6,819,144
Ensembl chrNW_004624756:6,814,842...6,819,578 		JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:12826230 PMID:18607346 RGD:10046052 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453 		JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Invs inversin ISO RGD PMID:10421642 RGD:155791685 NCBI chrNW_004624825:701,335...866,598
Ensembl chrNW_004624825:702,347...866,353 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624736:5,260,761...5,444,234
Ensembl chrNW_004624736:5,379,728...5,444,234 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chrNW_004624794:10,023,229...10,046,128
Ensembl chrNW_004624794:10,023,492...10,045,820 		JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chrNW_004624931:297,864...343,314
Ensembl chrNW_004624931:298,328...343,915 		JBrowse link
G LOC101700018 sterol 26-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chrNW_004624823:6,199,807...6,258,273
Ensembl chrNW_004624823:6,200,047...6,258,001 		JBrowse link
G LOC101701685 cholesterol 7-alpha-monooxygenase treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9797378 PMID:22461449 PMID:29655695 RGD:15090803 NCBI chrNW_004624744:33,563,564...33,619,851
Ensembl chrNW_004624744:33,612,901...33,619,869 		JBrowse link
G LOC101721563 25-hydroxycholesterol 7-alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chrNW_004624744:26,791,829...26,999,584
Ensembl chrNW_004624744:26,792,890...26,991,425 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624744:17,209,285...17,241,347
Ensembl chrNW_004624744:17,208,990...17,241,347 		JBrowse link
G Maob monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chrNW_004624762:11,584,925...11,720,273
Ensembl chrNW_004624762:11,584,825...11,720,506 		JBrowse link
G Mapk13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004624754:21,506,086...21,513,803
Ensembl chrNW_004624754:21,506,369...21,513,801 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004624754:21,528,121...21,598,064
Ensembl chrNW_004624754:21,527,333...21,597,733 		JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624756:6,464,303...6,657,521
Ensembl chrNW_004624756:6,464,238...6,587,049 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251 		JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624761:19,029,537...19,084,156
Ensembl chrNW_004624761:19,029,434...19,084,307 		JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624814:8,600,129...8,795,038 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912 PMID:20626112 NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		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_004624818:5,325,946...5,432,290
Ensembl chrNW_004624818:5,327,038...5,432,901 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624814:10,968,218...11,006,637
Ensembl chrNW_004624814:10,968,329...10,994,001 		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_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chrNW_004624795:3,102,424...3,109,497
Ensembl chrNW_004624795:3,102,439...3,109,497 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004624832:4,136,052...4,141,648
Ensembl chrNW_004624832:4,132,904...4,140,896 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004624767:1,459,601...1,473,224
Ensembl chrNW_004624767:1,459,601...1,467,795 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 treatment
severity		 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)
mRNA:altered expression:liver (rat)
mutant FXR-/- mouse		 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_004624750:7,222,306...7,303,809
Ensembl chrNW_004624750:7,219,251...7,303,834 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004624731:28,371,707...28,405,327
Ensembl chrNW_004624731:28,371,707...28,381,357 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004624794:141,316...158,059 JBrowse link
G Otc ornithine transcarbamylase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chrNW_004624762:17,038,223...17,104,853
Ensembl chrNW_004624762:17,038,223...17,104,965 		JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624802:11,668,977...11,686,840
Ensembl chrNW_004624802:11,669,908...11,686,122 		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_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chrNW_004624741:3,239,101...3,253,507
Ensembl chrNW_004624741:3,237,942...3,253,503 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		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_004624759:14,143,439...14,174,971
Ensembl chrNW_004624759:14,142,956...14,171,718 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chrNW_004624767:21,626,740...21,639,963
Ensembl chrNW_004624767:21,626,740...21,640,161 		JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chrNW_004624784:5,198,433...5,304,953
Ensembl chrNW_004624784:5,221,045...5,271,045 		JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624743:30,690,339...30,729,229
Ensembl chrNW_004624743:30,690,350...30,729,785 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624786:3,793,266...3,801,894
Ensembl chrNW_004624786:3,793,302...3,801,630 		JBrowse link
G Serpina5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624734:7,236,833...7,245,579
Ensembl chrNW_004624734:7,236,833...7,244,752 		JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337 		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_004624734:31,287,539...31,307,339
Ensembl chrNW_004624734:31,287,394...31,311,357 		JBrowse link
G Slc10a7 solute carrier family 10 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624853:5,110,729...5,365,312
Ensembl chrNW_004624853:5,113,153...5,365,339 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624836:6,454,988...6,670,980
Ensembl chrNW_004624836:6,455,190...6,668,643 		JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004624743:32,169,051...32,186,618
Ensembl chrNW_004624743:32,174,922...32,186,697 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004624741:5,917,620...6,050,922
Ensembl chrNW_004624741:5,917,019...6,000,720 		JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624835:3,598,375...3,612,165
Ensembl chrNW_004624835:3,598,260...3,611,307 		JBrowse link
G Slc51a solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chrNW_004624730:61,405,480...61,416,602
Ensembl chrNW_004624730:61,404,807...61,416,384 		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_004624752:17,496,923...17,606,726
Ensembl chrNW_004624752:17,495,717...17,606,838 		JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004624790:5,509,541...5,515,240
Ensembl chrNW_004624790:5,509,311...5,515,266 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624880:3,579,783...3,749,958
Ensembl chrNW_004624880:3,583,838...3,749,930 		JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chrNW_004624772:5,044,948...5,123,300
Ensembl chrNW_004624772:5,049,045...5,123,365 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004624804:8,092,700...8,105,478
Ensembl chrNW_004624804:8,093,346...8,106,193 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004624794:11,738,137...11,765,579
Ensembl chrNW_004624794:11,738,487...11,769,117 		JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624761:12,917,855...12,949,423
Ensembl chrNW_004624761:12,917,855...12,949,457 		JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chrNW_004624832:5,268,000...5,290,888
Ensembl chrNW_004624832:5,267,900...5,290,991 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chrNW_004624768:2,826,848...3,034,195
Ensembl chrNW_004624768:2,828,324...3,034,302 		JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624816:8,150,836...8,739,599
Ensembl chrNW_004624816:8,151,171...8,730,823 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004624730:8,791,691...8,819,957
Ensembl chrNW_004624730:8,792,854...8,867,707 		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_004624746:17,176,390...17,205,960
Ensembl chrNW_004624746:17,172,124...17,206,262 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624823:6,567,107...6,593,258
Ensembl chrNW_004624823:6,566,687...6,588,599 		JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004624768:17,221,809...17,264,264
Ensembl chrNW_004624768:17,244,002...17,264,441 		JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004624870:3,487,814...3,518,206
Ensembl chrNW_004624870:3,486,375...3,518,193 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352 		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_004624886:2,189,753...2,403,174
Ensembl chrNW_004624886:2,189,655...2,397,364 		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_004624882:376,447...417,066
Ensembl chrNW_004624882:376,556...416,509 		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_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071 		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_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		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_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115 		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_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071 		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_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		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_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115 		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_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chrNW_004624740:28,038,216...28,047,252
Ensembl chrNW_004624740:28,036,731...28,047,364 		JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chrNW_004624913:1,566,516...1,576,605
Ensembl chrNW_004624913:1,570,832...1,580,058 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chrNW_004624736:25,778,191...25,826,945
Ensembl chrNW_004624736:25,778,240...25,826,530 		JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chrNW_004624730:61,153,753...61,176,859 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chrNW_004624766:21,439,023...21,461,108 JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244 		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_004624765:18,406,859...18,474,905
Ensembl chrNW_004624765:18,406,758...18,475,918 		JBrowse link
G LOC101721563 25-hydroxycholesterol 7-alpha-hydroxylase ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624744:26,791,829...26,999,584
Ensembl chrNW_004624744:26,792,890...26,991,425 		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_004624782:14,054,028...14,057,248
Ensembl chrNW_004624782:14,053,765...14,057,241 		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_004624765:18,406,859...18,474,905
Ensembl chrNW_004624765:18,406,758...18,475,918 		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 LOC101721563 25-hydroxycholesterol 7-alpha-hydroxylase 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_004624744:26,791,829...26,999,584
Ensembl chrNW_004624744:26,792,890...26,991,425 		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_004624759:20,495,697...20,506,343
Ensembl chrNW_004624759:20,495,980...20,510,582 		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_004624759:20,640,407...20,701,790
Ensembl chrNW_004624759:20,673,033...20,701,361 		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_004624742:3,146,000...3,236,473
Ensembl chrNW_004624742:3,142,570...3,236,728 		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_004624822:5,535,086...5,561,867
Ensembl chrNW_004624822:5,536,421...5,561,781 		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_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chrNW_004624822:4,529,350...4,666,714
Ensembl chrNW_004624822:4,529,007...4,663,165 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chrNW_004624740:30,912,841...30,933,882
Ensembl chrNW_004624740:30,911,598...30,934,025 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chrNW_004624746:1,325,368...1,349,616 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_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859 		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_004624832:4,117,597...4,135,092
Ensembl chrNW_004624832:4,117,341...4,135,035 		JBrowse link
G Xpo1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499 		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_004624758:6,449,583...6,590,244
Ensembl chrNW_004624758:6,449,629...6,588,664 		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_004624879:1,811,686...2,060,221
Ensembl chrNW_004624879:1,811,651...2,060,099 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624786:10,195,337...10,197,963 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404 		JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chrNW_004624744:25,194,458...25,196,658
Ensembl chrNW_004624744:25,194,495...25,196,488 		JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624801:6,385,771...6,395,705
Ensembl chrNW_004624801:6,384,213...6,395,979 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chrNW_004624903:1,511,347...1,519,265
Ensembl chrNW_004624903:1,517,324...1,519,265 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624776:7,858,400...7,862,716
Ensembl chrNW_004624776:7,793,259...7,863,184 		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_004624772:15,432,612...15,464,343
Ensembl chrNW_004624772:15,432,198...15,467,797 		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_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624862:1,537,886...1,540,633
Ensembl chrNW_004624862:1,538,455...1,539,426 		JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624828:2,580,812...2,595,023
Ensembl chrNW_004624828:2,580,861...2,595,275 		JBrowse link
G Lgals1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004624752:10,220,115...10,223,434
Ensembl chrNW_004624752:10,219,872...10,223,317 		JBrowse link
G LOC101700018 sterol 26-hydroxylase, mitochondrial treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004624823:6,199,807...6,258,273
Ensembl chrNW_004624823:6,200,047...6,258,001 		JBrowse link
G LOC101701685 cholesterol 7-alpha-monooxygenase treatment ISO mRNA:decreased expression:liver, nucleus (rat)
mRNA:decreased expression:liver (rat)		 RGD PMID:28660384 PMID:29360226 RGD:14995480 RGD:21203516 NCBI chrNW_004624744:33,563,564...33,619,851
Ensembl chrNW_004624744:33,612,901...33,619,869 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624799:3,554,644...3,623,317
Ensembl chrNW_004624799:3,554,678...3,622,289 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624754:21,528,121...21,598,064
Ensembl chrNW_004624754:21,527,333...21,597,733 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624782:13,150,824...13,158,327
Ensembl chrNW_004624782:13,152,039...13,159,113 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266 		JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624733:42,998,948...43,048,392
Ensembl chrNW_004624733:42,999,339...43,048,285 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		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_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 treatment
disease_progression		 ISO mRNA:increased expression:liver (rat)
human gene in mouse model
protein:increased expression:liver (rat)		 RGD PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226 RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205 NCBI chrNW_004624750:7,222,306...7,303,809
Ensembl chrNW_004624750:7,219,251...7,303,834 		JBrowse link
G Oprm1 opioid receptor mu 1 ISO mRNA:decreased expression:hypothalamus, hippocampus RGD PMID:25290008 RGD:401842371 NCBI chrNW_004624785:4,147,079...4,195,712
Ensembl chrNW_004624785:4,032,689...4,196,186 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		JBrowse link
G Ptn pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004624765:17,523,086...17,625,264
Ensembl chrNW_004624765:17,522,916...17,548,184 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chrNW_004624777:19,764,383...19,812,804
Ensembl chrNW_004624777:19,768,698...19,814,506 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chrNW_004624855:2,623,595...2,661,739
Ensembl chrNW_004624855:2,623,547...2,659,742 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 PMID:31932644 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982 		JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		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_004624736:3,833,402...4,009,385
Ensembl chrNW_004624736:3,834,548...3,878,828 		JBrowse link
fascioliasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsb cathepsin B ISO protein:decreased activity:liver (rat) RGD PMID:19696938 RGD:2315504 NCBI chrNW_004624758:25,366,120...25,384,554
Ensembl chrNW_004624758:25,366,840...25,373,954 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:serum RGD PMID:10431747 RGD:6484593 NCBI chrNW_004624841:133,267...171,324 JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101703804 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_004624823:6,392,959...6,397,419
Ensembl chrNW_004624823:6,392,959...6,396,854 		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_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		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_004624780:1,429,415...1,619,010
Ensembl chrNW_004624780:1,429,403...1,617,743 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624738:9,318,213...9,340,765
Ensembl chrNW_004624738:9,318,232...9,340,925 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624746:14,254,811...14,268,034
Ensembl chrNW_004624746:14,254,193...14,268,034 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:28492532 NCBI chrNW_004624804:10,299,905...10,318,154
Ensembl chrNW_004624804:10,300,724...10,318,084 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chrNW_004624794:8,826,281...8,851,614
Ensembl chrNW_004624794:8,823,449...8,851,625 		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_004624901:467,937...471,917
Ensembl chrNW_004624901:468,662...471,500 		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_004624795:739,821...752,773
Ensembl chrNW_004624795:743,646...752,103 		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_004624794:2,638,605...2,715,934
Ensembl chrNW_004624794:2,639,039...2,714,591 		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_004624734:36,151,701...36,272,058
Ensembl chrNW_004624734:36,202,011...36,270,942 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321 		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_004624762:2,619,371...2,726,586
Ensembl chrNW_004624762:2,674,620...2,726,587 		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_004624780:1,429,415...1,619,010
Ensembl chrNW_004624780:1,429,403...1,617,743 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO OMIM:182900 MouseDO NCBI chrNW_004624804:10,299,905...10,318,154
Ensembl chrNW_004624804:10,300,724...10,318,084 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM:182900 MouseDO NCBI chrNW_004624794:2,638,605...2,715,934
Ensembl chrNW_004624794:2,639,039...2,714,591 		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_004624734:36,274,053...36,321,809
Ensembl chrNW_004624734:36,274,662...36,321,826 		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_004624734:36,151,701...36,272,058
Ensembl chrNW_004624734:36,202,011...36,270,942 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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_004624794:2,638,605...2,715,934
Ensembl chrNW_004624794:2,639,039...2,714,591 		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_004624795:739,821...752,773
Ensembl chrNW_004624795:743,646...752,103 		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_004624804:10,299,905...10,318,154
Ensembl chrNW_004624804:10,300,724...10,318,084 		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_004624730:66,885,674...66,902,345
Ensembl chrNW_004624730:66,885,319...66,903,079 		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_004624730:66,741,687...66,768,589
Ensembl chrNW_004624730:66,741,550...66,768,921 		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_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		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_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chrNW_004624795:1,386,154...1,406,314
Ensembl chrNW_004624795:1,385,756...1,405,714 		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_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Foxp3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679 		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_004624734:2,233,932...2,239,687
Ensembl chrNW_004624734:2,233,547...2,241,436 		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_004624754:15,609,932...15,615,580
Ensembl chrNW_004624754:15,609,920...15,614,263 		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_004624765:7,806,560...7,825,520 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_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Kdm5c lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chrNW_004624909:421,033...455,201
Ensembl chrNW_004624909:420,077...455,309 		JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD
MouseDO		 PMID:24139215 RGD:14398746 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Lrp1b LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chrNW_004624732:39,993,972...41,903,552
Ensembl chrNW_004624732:39,993,907...41,902,824 		JBrowse link
G Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chrNW_004624888:46,089...686,823
Ensembl chrNW_004624888:46,214...687,291 		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_004624822:4,529,350...4,666,714
Ensembl chrNW_004624822:4,529,007...4,663,165 		JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chrNW_004624791:13,975,235...14,056,900 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_004624871:191,534...259,134
Ensembl chrNW_004624871:191,546...259,120 		JBrowse link
G S100b S100 calcium binding protein B disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chrNW_004624745:31,645,927...31,652,846
Ensembl chrNW_004624745:31,645,927...31,652,832 		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_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325 		JBrowse link
G Tep1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chrNW_004624825:4,770,678...4,812,879
Ensembl chrNW_004624825:4,774,662...4,812,769 		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_004624787:6,653,849...6,733,058
Ensembl chrNW_004624787:6,650,772...6,733,195 		JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chrNW_004624740:16,111,004...16,117,075
Ensembl chrNW_004624740:16,111,004...16,116,992 		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_004624792:3,154,512...3,287,681
Ensembl chrNW_004624792:3,156,367...3,287,751 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293 		JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chrNW_004624737:7,011,792...7,193,903
Ensembl chrNW_004624737:7,084,818...7,191,918 		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_004624782:14,054,028...14,057,248
Ensembl chrNW_004624782:14,053,765...14,057,241 		JBrowse link
G LOC101722366 cytochrome P450 2E1 ISO RGD PMID:29404441 RGD:14700873 NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514 		JBrowse link
G Maf MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chrNW_004624746:7,653,690...7,672,404 JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chrNW_004624801:10,760,599...10,769,578
Ensembl chrNW_004624801:10,764,186...10,769,454 		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_004624764:10,896,728...10,899,898
Ensembl chrNW_004624764:10,892,481...10,899,215 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chrNW_004624750:7,222,306...7,303,809
Ensembl chrNW_004624750:7,219,251...7,303,834 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chrNW_004624855:2,623,595...2,661,739
Ensembl chrNW_004624855:2,623,547...2,659,742 		JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chrNW_004624736:3,833,402...4,009,385
Ensembl chrNW_004624736:3,834,548...3,878,828 		JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624792:3,154,512...3,287,681
Ensembl chrNW_004624792:3,156,367...3,287,751 		JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004624774:845,970...864,080
Ensembl chrNW_004624774:845,358...863,809 		JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		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_004624792:3,154,512...3,287,681
Ensembl chrNW_004624792:3,156,367...3,287,751 		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_004624787:6,653,849...6,733,058
Ensembl chrNW_004624787:6,650,772...6,733,195 		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_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324 		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_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Gata6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G Kmt2c lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		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_004624744:22,941,194...23,208,987
Ensembl chrNW_004624744:22,946,979...23,172,122 		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 OMIM
ClinVar		 PMID:25741868 PMID:34037727 NCBI chrNW_004624813:59,560...187,743
Ensembl chrNW_004624813:59,528...189,169 		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_004624746:17,176,390...17,205,960
Ensembl chrNW_004624746:17,172,124...17,206,262 		JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004624766:2,402,152...2,404,343
Ensembl chrNW_004624766:2,401,769...2,404,446 		JBrowse link
G Alb albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cfh complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO RGD PMID:9161836 RGD:11036102 NCBI chrNW_004624735:12,355,476...12,359,910
Ensembl chrNW_004624735:12,355,476...12,360,028 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chrNW_004624784:14,467,515...14,474,954
Ensembl chrNW_004624784:14,467,533...14,474,954 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chrNW_004624776:7,858,400...7,862,716
Ensembl chrNW_004624776:7,793,259...7,863,184 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chrNW_004624783:7,267,680...7,275,918
Ensembl chrNW_004624783:7,260,005...7,274,433 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chrNW_004624842:1,306,299...1,332,269
Ensembl chrNW_004624842:1,301,831...1,332,346 		JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898 		JBrowse link
G Tlr2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chrNW_004624817:3,067,358...3,075,045
Ensembl chrNW_004624817:3,067,320...3,075,043 		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_004624768:17,300,913...17,315,848
Ensembl chrNW_004624768:17,301,277...17,314,353 		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_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		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_004624758:6,449,583...6,590,244
Ensembl chrNW_004624758:6,449,629...6,588,664 		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_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460 		JBrowse link
G Ace angiotensin I converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628 		JBrowse link
G Ca1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chrNW_004624744:6,244,872...6,324,722
Ensembl chrNW_004624744:6,314,872...6,333,003 		JBrowse link
G Ca2 carbonic anhydrase 2 ISO RGD PMID:12806141 RGD:408425977 NCBI chrNW_004624744:6,168,030...6,183,407
Ensembl chrNW_004624744:6,167,606...6,183,538 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12126966 PMID:15770052 RGD:14995336 NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:increased expression:liver (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004624784:13,733,465...13,754,248
Ensembl chrNW_004624784:13,733,403...13,737,356 		JBrowse link
G Cd68 CD68 molecule disease_progression ISO protein:increased expression:liver (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004624786:10,195,337...10,197,963 JBrowse link
G Cd80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004624731:28,630,540...28,655,297
Ensembl chrNW_004624731:28,630,446...28,651,994 		JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004624746:20,028,952...20,068,029
Ensembl chrNW_004624746:20,033,008...20,057,595 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885 		JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chrNW_004624741:4,868,453...4,870,933
Ensembl chrNW_004624741:4,869,248...4,870,897 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004624824:8,174,653...8,400,760
Ensembl chrNW_004624824:8,174,610...8,400,723 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004624768:18,386,415...18,468,879 JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004624733:16,082,461...16,146,798
Ensembl chrNW_004624733:16,082,369...16,147,075 		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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004624784:14,285,998...14,298,679
Ensembl chrNW_004624784:14,286,355...14,297,383 		JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624801:6,385,771...6,395,705
Ensembl chrNW_004624801:6,384,213...6,395,979 		JBrowse link
G Dag1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004624798:2,621,604...2,844,370
Ensembl chrNW_004624798:2,622,379...2,838,775 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chrNW_004624824:1,429,078...1,446,881
Ensembl chrNW_004624824:1,443,451...1,446,881 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15651265 RGD:9685530 NCBI chrNW_004624760:859,598...865,194
Ensembl chrNW_004624760:859,637...866,804 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679 		JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment ISO RGD PMID:20132096 RGD:329970291 NCBI chrNW_004624731:14,459,164...14,502,485
Ensembl chrNW_004624731:14,459,303...14,500,429 		JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
G Hhip hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chrNW_004624853:3,649,974...3,739,344
Ensembl chrNW_004624853:3,649,967...3,735,834 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004624740:6,893,334...6,897,591
Ensembl chrNW_004624740:6,893,867...6,897,377 		JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il12a interleukin 12A treatment
susceptibility		 ISO DNA:SNP: :rs62270414(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
DNA:SNPs, haplotype: :rs6441286, rs574808(human)		 RGD
CTD		 PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chrNW_004624730:37,787,772...37,794,871
Ensembl chrNW_004624730:37,787,909...37,794,940 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chrNW_004624733:30,146,050...30,156,144
Ensembl chrNW_004624733:30,146,050...30,154,589 		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_004624908:1,472,059...1,481,423 JBrowse link
G Il1b interleukin 1 beta disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:21275501 RGD:407420272 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624828:2,580,812...2,595,023
Ensembl chrNW_004624828:2,580,861...2,595,275 		JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chrNW_004624904:1,011,675...1,015,319
Ensembl chrNW_004624904:1,011,755...1,015,416 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chrNW_004624816:103,285...168,486
Ensembl chrNW_004624816:105,758...134,567 		JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chrNW_004624835:6,469,677...6,489,790 JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727 		JBrowse link
G Lepr leptin receptor ISO protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004624774:20,116,625...20,137,767
Ensembl chrNW_004624774:20,116,970...20,134,355 		JBrowse link
G Loxl2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004624758:18,567,367...18,644,528
Ensembl chrNW_004624758:18,568,607...18,621,785 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chrNW_004624795:167,959...207,421
Ensembl chrNW_004624795:167,990...203,784 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624754:21,528,121...21,598,064
Ensembl chrNW_004624754:21,527,333...21,597,733 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chrNW_004624855:2,968,111...3,008,728
Ensembl chrNW_004624855:2,969,444...2,970,421 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chrNW_004624818:7,451,213...7,481,988
Ensembl chrNW_004624818:7,453,177...7,485,439 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004624918:2,228,688...2,239,852 JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chrNW_004624766:21,493,125...21,522,535 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21903766 PMID:30026087