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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.


show annotations for term's descendants           Sort by:
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 IEP mRNA:increased expression:liver RGD PMID:21037076 RGD:11341737 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G FECH ferrochelatase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10464147 NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		JBrowse link
G MAGEE1 MAGE family member E1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30515189 NCBI chr  X:76,427,710...76,431,342
Ensembl chr  X:76,427,710...76,431,342 		JBrowse link
Aagenaes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057954 ATAC-STARR-seq lymphoblastoid silent region 6833 IAGP ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 NCBI chr15:90,935,101...90,935,500 JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		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 TAS
IAGP
ISS
EXP
ISO		 ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar Annotator: match by term: Arteriohepatic dysplasia
OMIM:118450 | OMIM:610205
CTD Direct Evidence: marker/mechanism
DNA:insertion:exon:c.962_963insA (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:10220506 More... RGD:1580651, RGD:6482237, RGD:6482232 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G NOTCH2 notch receptor 2 IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16773578 RGD:1580762 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		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 IAGP 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 chr20:10,034,987...10,058,303
Ensembl chr20:9,986,126...10,058,303 		JBrowse link
G HAO1 hydroxyacid oxidase 1 IAGP 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 chr20:7,882,985...7,940,458
Ensembl chr20:7,882,985...7,940,458 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation		 ClinVar
OMIM		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G LAMP5 lysosomal associated membrane protein family member 5 IAGP 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 chr20:9,514,590...9,530,524
Ensembl chr20:9,514,358...9,530,524 		JBrowse link
G LOC112694687 Sharpr-MPRA regulatory region 2397 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,511,421...10,511,935 JBrowse link
G LOC112694688 Sharpr-MPRA regulatory region 11569 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,592,961...10,593,255 JBrowse link
G LOC121627892 Sharpr-MPRA regulatory region 8388 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,523,941...10,524,235 JBrowse link
G LOC125384578 Sharpr-MPRA regulatory region 5326 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,527,841...10,528,135 JBrowse link
G LOC125384579 Sharpr-MPRA regulatory region 6934 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,578,601...10,578,895 JBrowse link
G LOC125384580 Sharpr-MPRA regulatory region 15707 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,651,181...10,651,475 JBrowse link
G LOC126862972 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:10399946-10401145 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,419,298...10,420,497 JBrowse link
G LOC126862973 CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:10578661-10579860 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,598,013...10,599,212 JBrowse link
G LOC128706665 uncharacterized LOC128706665 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,413,708...10,434,222 JBrowse link
G LOC128706666 uncharacterized LOC128706666 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,413,708...10,434,222 JBrowse link
G LOC130065416 ATAC-STARR-seq lymphoblastoid active region 17541 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,350,866...10,351,095 JBrowse link
G LOC130065417 ATAC-STARR-seq lymphoblastoid silent region 12671 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,428,263...10,428,312 JBrowse link
G LOC130065418 ATAC-STARR-seq lymphoblastoid active region 17542 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,434,069...10,434,128 JBrowse link
G LOC130065419 ATAC-STARR-seq lymphoblastoid active region 17543 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,435,019...10,435,248 JBrowse link
G LOC130065420 ATAC-STARR-seq lymphoblastoid active region 17544 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,435,409...10,435,458 JBrowse link
G LOC130065421 ATAC-STARR-seq lymphoblastoid active region 17545 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,507,204...10,507,343 JBrowse link
G LOC130065422 ATAC-STARR-seq lymphoblastoid active region 17547 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,558,743...10,559,122 JBrowse link
G LOC130065423 ATAC-STARR-seq lymphoblastoid silent region 12672 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,647,667...10,647,716 JBrowse link
G LOC130065424 ATAC-STARR-seq lymphoblastoid silent region 12673 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,670,642...10,670,691 JBrowse link
G LOC130065425 ATAC-STARR-seq lymphoblastoid silent region 12674 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr20:10,670,742...10,670,791 JBrowse link
G MIR6870 microRNA 6870 IAGP ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:25741868 More... NCBI chr20:10,649,636...10,649,695
Ensembl chr20:10,649,636...10,649,695 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP 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 chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G PAK5 p21 (RAC1) activated kinase 5 IAGP 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 chr20:9,537,370...9,839,076
Ensembl chr20:9,537,370...9,839,076 		JBrowse link
G PLCB1 phospholipase C beta 1 IAGP 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 chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP 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 chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G SLX4IP SLX4 interacting protein IAGP 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 chr20:10,435,305...10,628,030
Ensembl chr20:10,435,305...10,636,829 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP 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 chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G TMX4 thioredoxin related transmembrane protein 4 IAGP 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 chr20:7,977,346...8,019,761
Ensembl chr20:7,977,346...8,019,805 		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 IAGP ClinVar Annotator: match by term: Alagille syndrome 2 ClinVar
OMIM		 PMID:16773578 PMID:21378985 PMID:23389697 PMID:24728327 PMID:25016221 More... NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		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 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome		 CTD
ClinVar
MouseDO		 PMID:20190753 PMID:25741868 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated EXP
ISS
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome		 CTD
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP 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 chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM
ClinVar		 PMID:20190753 PMID:25741868 PMID:28492532 PMID:31479177 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		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 IAGP ClinVar Annotator: match by term: Summerskill syndrome
DNA:missense mutation:cds:p.I661T (human)		 ClinVar
OMIM
RGD		 PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 More... RGD:14401576 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G ATP8B1-AS1 ATP8B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Summerskill syndrome ClinVar PMID:7894490 PMID:9500542 PMID:15239083 PMID:16199547 PMID:17592371 More... NCBI chr18:57,630,331...57,669,283
Ensembl chr18:57,629,870...57,738,678 		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 IAGP 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 chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G LOC126806400 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:169791870-169793069 IAGP ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 ClinVar PMID:16039748 PMID:17241866 PMID:18395098 PMID:19101985 PMID:20232290 More... NCBI chr 2:168,935,360...168,936,559 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 IEP RGD PMID:24131658 RGD:151361287 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		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 IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		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 IAGP DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G MIR31 microRNA 31 exacerbates IEP RNA:increased expression:bile duct (human) RGD PMID:29860474 RGD:152998990 NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:33357406 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TJP1 tight junction protein 1 IEP protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915 		JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSLN mesothelin IEP protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression IEP RGD PMID:24890221 RGD:151361210 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		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 IEP mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655 		JBrowse link
G IL6 interleukin 6 disease_progression IEP protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase severity IEP protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:9869516 RGD:2317706 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423 		JBrowse link
G MUC16 mucin 16, cell surface associated IEP protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression IEP
IDA		 RGD PMID:8501910 PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436 		JBrowse link
G RUNX3 RUNX family transcription factor 3 IDA DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121 		JBrowse link
G ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29707199 NCBI chr19:56,477,874...56,495,437
Ensembl chr19:56,477,250...56,504,362 		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 IEP protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G CD14 CD14 molecule disease_progression IEP mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IEP RGD PMID:14743499 RGD:1625622 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression IEP RGD PMID:29056230 RGD:14701039 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
G GLI2 GLI family zinc finger 2 disease_progression IEP RGD PMID:25746691 RGD:12802349 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G HAMP hepcidin antimicrobial peptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility IAGP DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IL18 interleukin 18 susceptibility IAGP
IEP		 DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:		 RGD PMID:30059753 PMID:10726686 RGD:14695528, RGD:14695529 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G MIR145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733 		JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:liver RGD PMID:28355202 PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G PTEN phosphatase and tensin homolog IEP mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SHH sonic hedgehog signaling molecule disease_progression IEP RGD PMID:25746691 RGD:12802349 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 disease_progression IEP mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr15:40,844,048...40,858,207
Ensembl chr15:40,844,018...40,858,207 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 IEP mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615 		JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:15845635 RGD:1581370 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G TGFB1 transforming growth factor beta 1 treatment IEP RGD PMID:30686515 RGD:14985228 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		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 chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G LOC126859690 MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 IAGP ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 More... NCBI chr 6:52,024,050...52,025,249 JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G WDR19 WD repeat domain 19 IAGP associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		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 ISS MouseDO NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		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 IAGP DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G ADRB2 adrenoceptor beta 2 IEP protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ALB albumin disease_progression IEP
IDA		 RGD PMID:20431764 PMID:10776430 PMID:17545000 RGD:2325679, RGD:2325682, RGD:2325680 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G ANXA2 annexin A2 disease_progression IEP RGD PMID:20493868 RGD:2325728 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883 		JBrowse link
G ANXA8 annexin A8 IEP RGD PMID:19376120 RGD:2325733 NCBI chr10:47,467,993...47,991,796
Ensembl chr10:47,460,162...47,484,158 		JBrowse link
G APC APC regulator of WNT signaling pathway IDA
IAGP		 DNA:hypermethylation:promoter
DNA:loss of heterozygosity		 RGD PMID:15467712 PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APOA1 apolipoprotein A1 IEP protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ASPH aspartate beta-hydroxylase IDA RGD PMID:21898484 RGD:6902945 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G ATG101 autophagy related 101 disease_progression IEP RGD PMID:35592424 RGD:153350091 NCBI chr12:52,065,300...52,077,495
Ensembl chr12:52,069,246...52,077,495 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ameliorates HEP mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A onset IEP protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CST1 cystatin SN disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr20:23,747,562...23,750,935
Ensembl chr20:23,747,562...23,751,268 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962 		JBrowse link
G CYCS cytochrome c, somatic IDA RGD PMID:19788692 RGD:2317615 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 HEP protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) RGD PMID:23375797 RGD:151361187 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G EGF epidermal growth factor IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 PMID:28492532 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G EGFR epidermal growth factor receptor EXP
IAGP		 CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Cholangiocarcinoma		 CTD
ClinVar		 PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
no_association		 IAGP 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 PMID:24179546 RGD:126779604, RGD:126779604 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAM66C family with sequence similarity 66 member C EXP CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr12:8,180,209...8,201,000
Ensembl chr12:8,180,204...8,226,278 		JBrowse link
G FASLG Fas ligand IDA RGD PMID:11029528 RGD:2317746 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FGF2 fibroblast growth factor 2 IEP protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655 		JBrowse link
G GNAS GNAS complex locus disease_progression IAGP
EXP		 DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22561520 PMID:17356712 RGD:1601377 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:24049014 RGD:14700980 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment IDA
IMP		 DNA:hypermethylation:promoter
human cell line in a mouse model		 RGD PMID:15467712 PMID:12805482 RGD:2317198, RGD:14401711 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G HDAC6 histone deacetylase 6 IEP protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HGF hepatocyte growth factor ISO
IEP		 mRNA, protein:increased expression: :
protein:increased expression:serum		 RGD PMID:10827151 PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HIF1A-AS3 HIF1A antisense RNA 3 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL1B interleukin 1 beta IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544 		JBrowse link
G IL4R interleukin 4 receptor IEP mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL6 interleukin 6 IEP
IAGP
EXP		 ClinVar Annotator: match by term: Cholangiocarcinoma
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... RGD:2317167, RGD:14975292 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6-AS1 IL6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620 		JBrowse link
G INS insulin disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 7:120,272,908...120,750,337
Ensembl chr 7:120,273,175...120,750,337 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KMT2C lysine methyltransferase 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT7 keratin 7 IEP RGD PMID:18393293 RGD:2317308 NCBI chr12:52,233,243...52,255,853
Ensembl chr12:52,232,520...52,252,186 		JBrowse link
G LOC126859963 BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,726,650...22,727,849 JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression IEP
ISO		 protein:increased phosphorylation:liver, carcinoma (human)
protein:increased expression:liver, biliary epithelium (rat)		 RGD PMID:16818635 PMID:14656942 RGD:2317578, RGD:2317601 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:205,569,014...205,602,918
Ensembl chr 1:205,568,885...205,602,918 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MIR192 microRNA 192 IEP RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246 		JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR23B microRNA 23b EXP CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304 		JBrowse link
G MIR494 microRNA 494 severity
exacerbates		 IEP
IMP		 RGD PMID:30314946 PMID:30314946 RGD:156420141, RGD:156420141 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714 		JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:12903495 RGD:2317705 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO
IEP		 protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP
ISO		 mRNA:increased expression:bile duct
protein:increased expression:bile duct		 RGD PMID:16463672 PMID:15213623 PMID:15213623 RGD:2325856, RGD:2324667, RGD:2324667 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MSLN mesothelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP
ISO		 mRNA:increased expression:bile duct
protein:increased expression:bile duct:
protein:increased expression:serum
protein:increased secretion:bile		 RGD PMID:19639217 PMID:18081149 PMID:15213623 PMID:19260467 PMID:19055478 RGD:2317986, RGD:2324638, RGD:2324667, RGD:2324664, RGD:2324622 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G MUC16 mucin 16, cell surface associated IEP associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC3A mucin 3A, cell surface associated IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347 		JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP
ISO		 protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression IEP protein:increased expression:serum
mRNA:increased expression:bile duct		 RGD PMID:14508831 PMID:11680592 RGD:2324990, RGD:2324948 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) IEP protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G NAT2 N-acetyltransferase 2 IAGP DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 IEP associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436 		JBrowse link
G NOS2 nitric oxide synthase 2 IEP
EXP		 protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16818635 PMID:16094703 RGD:2325280 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOTCH1 notch receptor 1 IEP protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		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 chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase disease_progression IAGP DNA:loss of heterozygosity (human) RGD PMID:11866974 PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G OSBP2 oxysterol binding protein 2 IEP mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr22:30,693,782...30,907,813
Ensembl chr22:30,693,782...30,907,824 		JBrowse link
G OSBPL7 oxysterol binding protein like 7 IEP mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr17:47,807,372...47,821,794
Ensembl chr17:47,807,372...47,821,803 		JBrowse link
G PACERR PTGS2 antisense NFKB1 complex-mediated expression regulator RNA IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chr 1:186,680,654...186,681,446
Ensembl chr 1:186,680,108...186,683,165 		JBrowse link
G PANX2 pannexin 2 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr22:50,170,731...50,180,295
Ensembl chr22:50,170,731...50,180,295 		JBrowse link
G PAWR pro-apoptotic WT1 regulator IEP mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:79,584,879...79,690,964
Ensembl chr12:79,574,979...79,690,964 		JBrowse link
G PBRM1 polybromo 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G PEG3 paternally expressed 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr19:56,810,082...56,840,726
Ensembl chr19:56,810,077...56,840,728 		JBrowse link
G PES1 pescadillo ribosomal biogenesis factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr22:30,576,625...30,607,013
Ensembl chr22:30,576,625...30,607,083 		JBrowse link
G PIR pirin disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:15,384,799...15,493,333
Ensembl chr  X:15,384,799...15,493,564 		JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates IMP human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism IAGP DNA:substitutions, insertion/deletions: (human) RGD PMID:28000796 RGD:151665188 NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRRG4 proline rich and Gla domain 4 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:32,829,789...32,858,120
Ensembl chr11:32,829,927...32,858,120 		JBrowse link
G PRSS2 serine protease 2 IEP protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564 		JBrowse link
G PRSS56 serine protease 56 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27022031 PMID:23376645 RGD:12802341 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
IAGP
EXP		 protein:increased expression:bile duct
ClinVar Annotator: match by term: Cholangiocarcinoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16818635 PMID:19621664 RGD:2317180 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RASSF8 Ras association domain family member 8 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr12:25,958,232...26,079,889
Ensembl chr12:25,958,232...26,079,892 		JBrowse link
G REG1A regenerating family member 1 alpha susceptibility IEP mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409 		JBrowse link
G RNF39 ring finger protein 39 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 6:30,070,270...30,075,769
Ensembl chr 6:30,070,266...30,075,849 		JBrowse link
G RNF43 ring finger protein 43 exacerbates EXP
IAGP		 CTD Direct Evidence: marker/mechanism
associated with opisthorchiasis;DNA:SNPs:multiple: (human)		 CTD
RGD		 PMID:22561520 PMID:22561520 RGD:151361227 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G ROBO2 roundabout guidance receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964 		JBrowse link
G RUNX3 RUNX family transcription factor 3 IEP protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression
treatment		 IEP
IMP		 RGD PMID:25475870 PMID:28347255 PMID:24131658 RGD:151361214, RGD:151361294, RGD:151361287 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 severity IEP protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077 		JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression IEP
ISO		 protein:increased expression:pancreas RGD PMID:16083599 PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THBS1 thrombospondin 1 disease_progression IEP
IDA		 DNA:hypermethylation (human) RGD PMID:16465407 PMID:11927969 PMID:12213730 RGD:2325024, RGD:2325027, RGD:2325026 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466 		JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity IEP protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TP53 tumor protein p53 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TTR transthyretin IEP protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 IEP RGD PMID:9230212 RGD:2325161 NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300 		JBrowse link
G VEGFA vascular endothelial growth factor A IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G WDHD1 WD repeat and HMG-box DNA binding protein 1 ameliorates IMP RGD PMID:30314946 RGD:156420141 NCBI chr14:54,938,949...55,027,099
Ensembl chr14:54,938,949...55,027,105 		JBrowse link
G WNT9A Wnt family member 9A disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:227,918,656...227,947,932
Ensembl chr 1:227,918,656...227,947,932 		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 chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO RGD PMID:22576464 RGD:10401932 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 severity IAGP associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) RGD PMID:31121195 RGD:14974230 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G MIR192 microRNA 192 IEP RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246 		JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8698195 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816485 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:17102917 RGD:14995925 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 treatment ISO RGD PMID:17102917 RGD:14995925 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G EGR1 early growth response 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ITGB6 integrin subunit beta 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G KRT19 keratin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr17:41,523,617...41,528,308
Ensembl chr17:41,523,617...41,528,308 		JBrowse link
G MUC17 mucin 17, cell surface associated ISO mRNA:increased expression:bile duct RGD PMID:19032457 RGD:2325170 NCBI chr 7:101,020,081...101,058,859
Ensembl chr 7:101,020,072...101,058,859 		JBrowse link
G MUC3A mucin 3A, cell surface associated ISO mRNA:increased expression:bile duct RGD PMID:19032457 RGD:2325170 NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IEP mRNA:increased expression:cd4-positive helper T cells (human) RGD PMID:30690835 RGD:14975104 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:29158418 RGD:14700923 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO RGD PMID:30340822 RGD:15090860 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G VDR vitamin D receptor IEP mRNA,protein:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISS OMIM:600803 MouseDO NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G POT1 protection of telomeres 1 IEP mRNA:decreased expression:gall bladder RGD PMID:28643740 RGD:151356941 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		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) EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517 		JBrowse link
G CFTR CF transmembrane conductance regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin EXP
ISO		 CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:		 CTD
RGD		 PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G SCT secretin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		JBrowse link
choledocholithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPG asparaginase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr14:104,085,700...104,115,582
Ensembl chr14:104,085,686...104,115,582 		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
EXP		 mRNA:altered expression:liver (rat)
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11179459 PMID:22461449 PMID:24713091 PMID:12702498 PMID:27090119 More... RGD:1598571, RGD:15090804, RGD:14402414, RGD:14402412 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO
IAGP
ISS		 DNA:mutations: : MouseDO
RGD		 PMID:11680581 PMID:26324191 RGD:1598589, RGD:11565494 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment
disease_progression		 ISO
EXP
IEP		 mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:intestine:
mRNA,protein:decreased expression:intestine:		 CTD
RGD		 PMID:10869290 PMID:17681005 PMID:22521610 PMID:16037978 PMID:27090119 More... RGD:1598614, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598571 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO
EXP		 protein:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22461449 PMID:18096675 PMID:23486593 RGD:2301060, RGD:11535162 NCBI chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253 		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:2301085, RGD:15045612 NCBI chr13:95,019,835...95,301,451
Ensembl chr13:95,019,835...95,301,475 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		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 chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801 		JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G ALB albumin IEP RGD PMID:6431134 RGD:11035297 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:38,392,702...38,398,661
Ensembl chr 9:38,392,702...38,398,661 		JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chr 3:126,103,570...126,197,945
Ensembl chr 3:126,103,562...126,197,994 		JBrowse link
G ALDH8A1 aldehyde dehydrogenase 8 family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:134,917,393...134,950,101
Ensembl chr 6:134,917,393...134,950,115 		JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G APOE apolipoprotein E IEP associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARG1 arginase 1 ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:24,810,024...24,949,340
Ensembl chr12:24,810,024...24,949,101 		JBrowse link
G BEX4 brain expressed X-linked 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:103,215,092...103,217,246
Ensembl chr  X:103,215,108...103,217,246 		JBrowse link
G BLVRA biliverdin reductase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342 		JBrowse link
G BMAL1 basic helix-loop-helix ARNT like 1 ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr11:13,276,652...13,387,266
Ensembl chr11:13,276,652...13,387,266 		JBrowse link
G BTG3 BTG anti-proliferation factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr21:17,593,653...17,612,901
Ensembl chr21:17,593,653...17,612,945 		JBrowse link
G C4orf19 chromosome 4 open reading frame 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:37,453,255...37,593,510
Ensembl chr 4:37,453,925...37,623,495 		JBrowse link
G CADPS2 calcium dependent secretion activator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:122,318,411...122,886,460
Ensembl chr 7:122,318,411...122,886,759 		JBrowse link
G CAT catalase ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27989131 PMID:21339256 RGD:5130873 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL7 C-C motif chemokine ligand 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242 		JBrowse link
G CD14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700 		JBrowse link
G CD44 CD44 molecule (IN blood group) ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402 		JBrowse link
G CFHR5 complement factor H related 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLOCK clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 4:55,427,903...55,546,909
Ensembl chr 4:55,427,903...55,546,909 		JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347 		JBrowse link
G CNR2 cannabinoid receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO mRNA:increased expression:liver (mouse)
mRNA:increased expression:liver (rat)		 RGD PMID:22094456 PMID:22824087 PMID:21274875 RGD:8552675, RGD:8552776, RGD:8552699 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G CP ceruloplasmin IEP protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398 		JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9797378 PMID:22461449 PMID:29655695 RGD:15090803 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898 		JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:75,768,778...75,801,534
Ensembl chr11:75,759,512...75,801,535 		JBrowse link
G DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:108,569,874...108,574,850
Ensembl chr 7:108,569,867...108,574,850 		JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr10:67,796,669...67,838,188
Ensembl chr10:67,796,669...67,838,188 		JBrowse link
G EGR1 early growth response 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G ENG endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 2:53,787,044...53,818,796
Ensembl chr 2:53,787,009...53,833,038 		JBrowse link
G F2RL3 F2R like thrombin or trypsin receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr19:16,888,999...16,892,606
Ensembl chr19:16,888,999...16,892,606 		JBrowse link
G FGA fibrinogen alpha chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GHR growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 treatment ISO RGD PMID:25932098 RGD:14701043 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G GTPBP2 GTP binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 3:15,560,699...15,601,569
Ensembl chr 3:15,560,699...15,601,852 		JBrowse link
G HAO2 hydroxyacid oxidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:119,368,785...119,394,130
Ensembl chr 1:119,368,779...119,394,130 		JBrowse link
G HJV hemojuvelin BMP co-receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:97,584,389...97,612,802
Ensembl chr10:97,584,323...97,612,802 		JBrowse link
G HP haptoglobin ISO mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G ID1 inhibitor of DNA binding 1 ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,573,014...31,606,515 		JBrowse link
G ID4 inhibitor of DNA binding 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:19,837,370...19,842,197
Ensembl chr 6:19,837,370...19,842,197 		JBrowse link
G IGF1 insulin like growth factor 1 ISO
EXP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:12826230 PMID:18607346 RGD:10046052 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INVS inversin ISO RGD PMID:10421642 RGD:155791685 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:470,295...746,103
Ensembl chr 9:470,291...746,105 		JBrowse link
G KMT2B lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G LY96 lymphocyte antigen 96 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:73,991,392...74,099,857
Ensembl chr 8:73,991,392...74,029,079 		JBrowse link
G MAOB monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:43,766,610...43,882,450
Ensembl chr  X:43,766,610...43,882,450 		JBrowse link
G MAPK13 mitogen-activated protein kinase 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 6:36,130,513...36,144,521
Ensembl chr 6:36,127,809...36,144,524 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511 		JBrowse link
G MBOAT1 membrane bound O-acyltransferase domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:20,099,684...20,212,469
Ensembl chr 6:20,099,684...20,212,469 		JBrowse link
G MIR130B microRNA 130b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385 		JBrowse link
G MIR143 microRNA 143 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023 		JBrowse link
G MIR185 microRNA 185 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr22:20,033,139...20,033,220
Ensembl chr22:20,033,139...20,033,220 		JBrowse link
G MIR190A microRNA 190a EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:62,823,957...62,824,041
Ensembl chr15:62,823,957...62,824,041 		JBrowse link
G MIR218-1 microRNA 218-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 PMID:30125006 NCBI chr 4:20,528,275...20,528,384
Ensembl chr 4:20,528,275...20,528,384 		JBrowse link
G MIR24-1 microRNA 24-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 9:95,086,021...95,086,088
Ensembl chr 9:95,086,021...95,086,088 		JBrowse link
G MIR27B microRNA 27b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 9:95,085,445...95,085,541
Ensembl chr 9:95,085,445...95,085,541 		JBrowse link
G MIR337 microRNA 337 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:100,874,493...100,874,585
Ensembl chr14:100,874,493...100,874,585 		JBrowse link
G MIR361 microRNA 361 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:85,903,636...85,903,707
Ensembl chr  X:85,903,636...85,903,707 		JBrowse link
G MIR377 microRNA 377 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:101,062,050...101,062,118
Ensembl chr14:101,062,050...101,062,118 		JBrowse link
G MIR411 microRNA 411 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:101,023,325...101,023,420
Ensembl chr14:101,023,325...101,023,420 		JBrowse link
G MIR875 microRNA 875 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 8:99,536,786...99,536,861
Ensembl chr 8:99,536,786...99,536,861 		JBrowse link
G MIR99A microRNA 99a EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr21:16,539,089...16,539,169
Ensembl chr21:16,539,089...16,539,169 		JBrowse link
G MIRLET7B microRNA let-7b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr22:46,113,686...46,113,768
Ensembl chr22:46,113,686...46,113,768 		JBrowse link
G MIRLET7I microRNA let-7i EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:62,603,686...62,603,769
Ensembl chr12:62,603,686...62,603,769 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NFXL1 nuclear transcription factor, X-box binding like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:47,847,233...47,914,667
Ensembl chr 4:47,847,233...47,914,667 		JBrowse link
G NIBAN1 niban apoptosis regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:184,791,032...184,974,508
Ensembl chr 1:184,790,724...184,974,508 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12612912 PMID:20626112 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Cholestasis ClinVar PMID:15776426 PMID:22550138 PMID:25741868 PMID:28492532 PMID:28700940 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:182,789,773...182,830,384
Ensembl chr 1:182,789,293...182,830,384 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22461449 PMID:28337145 RGD:13439750 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589 		JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 EXP CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 EXP CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
severity		 EXP
ISO		 CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)
mRNA, protein:altered expression:liver (rat)
mutant FXR-/- mouse		 CTD
RGD		 PMID:22461449 PMID:23178280 PMID:27090119 PMID:30061734 PMID:30223280 More... RGD:15090804, RGD:15092071, RGD:15045612, RGD:15045597, RGD:15042872, RGD:14701031 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 1:161,229,669...161,238,203
Ensembl chr 1:161,229,666...161,238,244 		JBrowse link
G OTC ornithine transcarbamylase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr12:56,316,936...56,334,000
Ensembl chr12:56,316,223...56,334,053 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDYN prodynorphin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		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 chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G RDX radixin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712 		JBrowse link
G REEP5 receptor accessory protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:112,876,385...112,922,227
Ensembl chr 5:112,876,385...112,922,289 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RFLNB refilin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:439,978...445,940
Ensembl chr17:439,978...445,939 		JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SERPINA5 serpin family A member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:94,581,426...94,593,118
Ensembl chr14:94,561,442...94,593,118 		JBrowse link
G SERPINE1 serpin family E member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC10A1 solute carrier family 10 member 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:29655695 PMID:27090119 RGD:15090803, RGD:15090804 NCBI chr14:69,775,416...69,797,241
Ensembl chr14:69,775,416...69,797,241 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC23A1 solute carrier family 23 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 5:139,367,196...139,385,676
Ensembl chr 5:139,367,196...139,384,553 		JBrowse link
G SLC23A2 solute carrier family 23 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr20:4,852,358...5,010,313
Ensembl chr20:4,852,356...5,010,293 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC51A solute carrier family 51 member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178 		JBrowse link
G SLC51B SLC51 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397 		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 chr12:21,264,600...21,419,634
Ensembl chr12:21,264,600...21,419,594 		JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886 		JBrowse link
G SORL1 sortilin related receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763 		JBrowse link
G SORT1 sortilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 1:109,309,575...109,397,918
Ensembl chr 1:109,309,568...109,397,918 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr15:40,844,048...40,858,207
Ensembl chr15:40,844,018...40,858,207 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615 		JBrowse link
G SRP72 signal recognition particle 72 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:56,467,617...56,503,681
Ensembl chr 4:56,467,617...56,503,681 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TJP1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915 		JBrowse link
G TLR2 toll like receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TMED7 transmembrane p24 trafficking protein 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:115,613,210...115,626,036
Ensembl chr 5:115,613,210...115,632,992 		JBrowse link
G TMEM117 transmembrane protein 117 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr12:43,795,802...44,399,108
Ensembl chr12:43,835,967...44,389,762 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TRAJ18 T cell receptor alpha joining 18 EXP CTD Direct Evidence: therapeutic CTD PMID:32987112 NCBI chr14:22,525,650...22,525,715
Ensembl chr14:22,525,650...22,525,715 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:29867509 RGD:14694823 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300 		JBrowse link
G USP53 ubiquitin specific peptidase 53 IAGP ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 PMID:34608165 NCBI chr 4:119,212,601...119,295,518
Ensembl chr 4:119,212,587...119,295,518 		JBrowse link
G UTP4 UTP4 small subunit processome component IAGP North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr16:69,132,649...69,169,021
Ensembl chr16:69,131,291...69,231,130 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G VIL1 villin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:218,419,123...218,453,295
Ensembl chr 2:218,419,121...218,453,295 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:68,421,281...68,457,496
Ensembl chr17:68,420,948...68,457,513 		JBrowse link
G XDH xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
chronic cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO RGD PMID:17852852 RGD:14694983 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		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 IAGP ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More... NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis ClinVar PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP
EXP		 DNA:missense mutations: :multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19058225 PMID:19574260 RGD:11535944, RGD:11535946 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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 IAGP ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 More... NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: COACH syndrome 1 OMIM
ClinVar		 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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 IAGP ClinVar Annotator: match by term: COACH syndrome 2 OMIM
ClinVar		 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		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 IAGP ClinVar Annotator: match by term: COACH syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 More... NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		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 IEP protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 IEP mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655 		JBrowse link
G MSLN mesothelin IEP protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865 		JBrowse link
G MTAP methylthioadenosine phosphorylase IEP DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G MUC4 mucin 4, cell surface associated IEP protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:10760693 RGD:2325158 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		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 IAGP ClinVar Annotator: match by term: Congenital bile acid synthesis defect ClinVar NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ClinVar Annotator: match by term: Congenital bile acid synthesis defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		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 IAGP
EXP		 ClinVar Annotator: match by term: HSD3B7-related condition
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 More... NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147 		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 IAGP
EXP		 ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 More... NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		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 CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP
EXP		 ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G LOC130000507 ATAC-STARR-seq lymphoblastoid silent region 19243 IAGP ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 ClinVar PMID:25741868 NCBI chr 8:64,798,535...64,798,644 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 IAGP
EXP		 ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 5:33,986,986...34,124,528
Ensembl chr 5:33,987,174...34,124,528 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 IAGP ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693 		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 IAGP
ISS		 ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5
ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5
OMIM:616278		 ClinVar
MouseDO
OMIM		 PMID:25168382 PMID:25741868 PMID:28492532 NCBI chr 1:94,385,131...94,518,663
Ensembl chr 1:94,418,389...94,518,666 		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 IAGP ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6
ClinVar Annotator: match by term: ACOX2-related condition
ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27647924 More... NCBI chr 3:58,505,136...58,537,190
Ensembl chr 3:58,505,136...58,537,283 		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 IAGP RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G PBRM1 polybromo 1 disease_progression IAGP RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G RAC1 Rac family small GTPase 1 IEP protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression IEP RGD PMID:24890221 RGD:151361210 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		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 IAGP ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G XPO1 exportin 1 disease_progression IEP protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741 		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 chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		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 chr13:95,019,835...95,301,451
Ensembl chr13:95,019,835...95,301,475 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111 		JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464 		JBrowse link
G CYGB cytoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:76,527,356...76,551,193
Ensembl chr17:76,527,356...76,551,175 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO mRNA:decreased expression:liver (rat)
mRNA:decreased expression:liver, nucleus (rat)		 RGD PMID:29360226 PMID:28660384 RGD:14995480, RGD:21203516 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HMGB1 high mobility group box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		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 chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		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 chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G LGALS1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MAPK9 mitogen-activated protein kinase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:180,233,143...180,292,083
Ensembl chr 5:180,233,143...180,292,099 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MPO myeloperoxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30026087 PMID:31900718 RGD:21201303 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
disease_progression		 ISO
IMP		 mRNA:increased expression:liver (rat)
protein:increased expression:liver (rat)
human gene in mouse model		 RGD PMID:14623915 PMID:29360226 PMID:29138817 PMID:22057115 RGD:1625205, RGD:14995480, RGD:15042871, RGD:14928333 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO mRNA:decreased expression:hypothalamus, hippocampus RGD PMID:25290008 RGD:401842371 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G SETD7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chr 4:139,492,974...139,556,219
Ensembl chr 4:139,495,941...139,606,699 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 PMID:31932644 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		JBrowse link
G TLR4 toll like receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP ClinVar Annotator: match by term: Familial primary biliary cirrhosis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615 		JBrowse link
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 chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:serum RGD PMID:10431747 RGD:6484593 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP
ISS
EXP		 ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G LOC129935609 ATAC-STARR-seq lymphoblastoid active region 17127 IAGP ClinVar Annotator: match by term: GRACILE syndrome ClinVar PMID:25741868 NCBI chr 2:218,659,677...218,659,806 JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868 PMID:32313153 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126863275 BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 IAGP ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome ClinVar NCBI chr  X:71,122,550...71,123,749 JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Hardikar syndrome
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 chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		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 IAGP
ISO		 ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse) 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:8640229 PMID:14671619 PMID:9054656 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD		 PMID:28492532 PMID:1558976 RGD:1598910 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G GPI glucose-6-phosphate isomerase IAGP ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G KLF1 KLF transcription factor 1 ISO
ISS		 DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD		 PMID:20691777 RGD:10769342 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LOC124153154 Sharpr-MPRA regulatory region 1462 IAGP ClinVar Annotator: match by term: Spherocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:41,725,651...41,726,294 JBrowse link
G LOC126860368 BRD4-independent group 4 enhancer GRCh37_chr8:41541049-41542248 IAGP ClinVar Annotator: match by term: Spherocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:41,683,531...41,684,755 JBrowse link
G LOC126860369 BRD4-independent group 4 enhancer GRCh37_chr8:41570734-41571933 IAGP ClinVar Annotator: match by term: Spherocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:41,713,216...41,714,415 JBrowse link
G LOC130000286 ATAC-STARR-seq lymphoblastoid active region 27293 IAGP ClinVar Annotator: match by term: Spherocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:41,702,055...41,702,134 JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:25741868 NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP
EXP		 DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)		 ClinVar
CTD
RGD		 PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 More... RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP
ISO		 DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Congenital spherocytosis
DNA:deletion:cds:		 ClinVar
RGD		 PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... RGD:11059521, RGD:11059522 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IEP
IAGP
EXP		 mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds,splice junction:		 ClinVar
CTD
RGD		 PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... RGD:11059526, RGD:11059526 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		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 ISS OMIM:182900 MouseDO NCBI chr 2:70,656,784...70,768,200
Ensembl chr 2:70,607,618...70,768,225 		JBrowse link
G ANK1 ankyrin 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hereditary spherocytosis type 1
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:182900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G LOC124153154 Sharpr-MPRA regulatory region 1462 IAGP ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by term: Hereditary spherocytosis type 1		 ClinVar PMID:8640229 PMID:16037067 PMID:25741868 PMID:28492532 NCBI chr 8:41,725,651...41,726,294 JBrowse link
G LOC126860368 BRD4-independent group 4 enhancer GRCh37_chr8:41541049-41542248 IAGP ClinVar Annotator: match by term: Hereditary spherocytosis type 1
ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1		 ClinVar PMID:8640229 PMID:12899723 PMID:25741868 PMID:28492532 PMID:33014018 NCBI chr 8:41,683,531...41,684,755 JBrowse link
G LOC126860369 BRD4-independent group 4 enhancer GRCh37_chr8:41570734-41571933 IAGP ClinVar Annotator: match by term: Hereditary spherocytosis type 1 ClinVar PMID:11372755 PMID:25741868 PMID:28492532 NCBI chr 8:41,713,216...41,714,415 JBrowse link
G LOC130000286 ATAC-STARR-seq lymphoblastoid active region 27293 IAGP ClinVar Annotator: match by term: Hereditary spherocytosis type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:41,702,055...41,702,134 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		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 IAGP ClinVar Annotator: match by term: SPTB-related condition
ClinVar Annotator: match by term: Hereditary spherocytosis type 2		 ClinVar PMID:25741868 NCBI chr14:64,704,424...64,750,249
Ensembl chr14:64,704,102...64,750,249 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ClinVar Annotator: match by term: Hereditary spherocytosis type 2
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition		 ClinVar
OMIM		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar PMID:25741868 NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hereditary spherocytosis type 3
OMIM:270970
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive		 ClinVar
MouseDO
CTD
OMIM		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		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) IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hereditary spherocytosis type 4
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spherocytosis type 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		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 IAGP
EXP		 DNA:deletion, nonsense mutation:exon:200_201delTT(human)
ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
ClinVar Annotator: match by term: CLDN1-related condition
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More... RGD:11341732 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446 		JBrowse link
G CLDN16 claudin 16 IAGP ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
ClinVar Annotator: match by term: CLDN1-related condition
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 chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		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 IAGP ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression
exacerbates		 IEP mRNA,protein:decreased expression:intrahepatic bile duct (human) RGD PMID:30849962 PMID:27433094 PMID:31665232 RGD:14974231, RGD:126775257, RGD:126781775 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 disease_progression IEP RGD PMID:27864835 RGD:150340628 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BECN1 beclin 1 disease_progression IEP RGD PMID:30849962 RGD:14974231 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase severity IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G FAS Fas cell surface death receptor disease_progression IEP RGD PMID:11003620 RGD:14700701 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand severity IEP RGD PMID:11003620 RGD:14700701 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 disease_progression IEP protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699 		JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 disease_progression IEP protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 no_association IAGP DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression IAGP
ISO		 DNA:mutations: :
mRNA:decreased expression:liver (mouse)		 RGD PMID:22824796 PMID:32463951 RGD:14985256, RGD:149735894 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G KDM5C lysine demethylase 5C exacerbates HEP protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISS
IAGP		 DNA:mutations:: MouseDO
RGD		 PMID:24139215 RGD:14398746 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LCN2 lipocalin 2 treatment ISO
IEP		 Protein:increased expression:bile duct RGD PMID:24939880 PMID:24939880 RGD:126790491, RGD:126790491 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates IAGP DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 disease_progression HEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chr 3:65,353,526...66,038,918
Ensembl chr 3:65,353,525...66,038,918 		JBrowse link
G MIR152 microRNA 152 IEP miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247 		JBrowse link
G MIR200B microRNA 200b IEP RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR221 microRNA 221 severity IEP RGD PMID:27685844 RGD:14928335 NCBI chr  X:45,746,157...45,746,266
Ensembl chr  X:45,746,157...45,746,266 		JBrowse link
G PBRM1 polybromo 1 disease_progression IEP
HEP		 protein:increased expression:intrahepatic bile duct (human) RGD PMID:27864835 PMID:30377796 RGD:150340628, RGD:152998946 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G PTEN phosphatase and tensin homolog disease_progression IEP protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNF43 ring finger protein 43 exacerbates IEP mRNA, protein:decreased expression:liver, bile duct epithelium (human) RGD PMID:26980022 RGD:151361125 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IEP mRNA:increased expression:intrahepatic bile duct RGD PMID:31015363 RGD:126775143 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G S100B S100 calcium binding protein B disease_progression HEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		JBrowse link
G SMAD4 SMAD family member 4 disease_progression IEP mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 PMID:23981608 RGD:18936999, RGD:21066336 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TEP1 telomerase associated protein 1 IEP mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr14:20,365,667...20,413,501
Ensembl chr14:20,365,667...20,413,501 		JBrowse link
G TERC telomerase RNA component IEP RNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		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 IAGP
ISO
EXP		 ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... RGD:1598583, RGD:14688049 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment ISO
IAGP
IDA
ISS		 ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878		 ClinVar
MouseDO
RGD		 PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More... RGD:1300325, RGD:14695045, RGD:14695044 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G AP1S1 adaptor related protein complex 1 subunit sigma 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 susceptibility IAGP
EXP		 DNA:mutation
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 More... RGD:1599397 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G ATP8B1-AS1 ATP8B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Progressive intrahepatic cholestasis ClinVar PMID:9500542 PMID:15239083 PMID:25741868 PMID:28492532 PMID:28733223 More... NCBI chr18:57,630,331...57,669,283
Ensembl chr18:57,629,870...57,738,678