Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:4138 term browser browse the term
Definition:Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT.
Synonyms:exact_synonym: bile duct diseases;   bile duct disorder;   disorder of bile duct
 primary_id: MESH:D001649;   RDO:0004991
 xref: 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 ISO mRNA:increased expression:liver RGD PMID:21037076 RGD:11341737 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G FECH ferrochelatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10464147 NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,002...106,898,418
JBrowse link
acalculous cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Acalculous cholecystitis ClinVar PMID:17726488, PMID:18482588, PMID:19584064, PMID:23533021, PMID:25741868, PMID:25807286 NCBI chr 9:93,171,371...93,262,124 JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO OMIM NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
G MKKS McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,340,977...19,362,871
JBrowse link
G NOTCH2 notch receptor 2 ISO OMIM NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G SLX4IP SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr17:19,363,727...19,578,132 JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,096,140...19,227,576
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 7:100,482,953...100,510,164
Ensembl chr 7:100,462,773...100,506,302
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chr 7:55,840,612...55,865,045 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 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr 7:100,482,953...100,510,164
Ensembl chr 7:100,462,773...100,506,302
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr 7:55,840,612...55,865,045 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO OMIM NCBI chr 7:100,482,953...100,510,164
Ensembl chr 7:100,462,773...100,506,302
JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO OMIM NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
bile duct cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B susceptibility ISO DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G TJP1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,368...145,195,836
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100524016 mesothelin ISO protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr 3:41,025,892...41,029,302 JBrowse link
Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase ISO mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,359...72,107,046
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,170...4,145,394
JBrowse link
G IL6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase severity ISO protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr13:134,192,412...134,248,435 JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910, PMID:9851639 RGD:2326076, RGD:2326077 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,750...40,960,608
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,215...82,595,026
JBrowse link
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G CD14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654
JBrowse link
G GLI2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL18 interleukin 18 susceptibility ISO protein:increased expression:serum:
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
RGD PMID:10726686, PMID:30059753 RGD:14695528, RGD:14695529 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:liver RGD PMID:27817193, PMID:28355202 RGD:24922206, RGD:25671379 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G PTEN phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SHH sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,561
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
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 chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G TTC26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr18:10,462,670...10,509,595
Ensembl chr18:10,462,670...10,509,567
JBrowse link
G WDR19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703
JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,656...111,078,873
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G ALB albumin disease_progression ISO RGD PMID:10776430, PMID:17545000, PMID:20431764 RGD:2325679, RGD:2325680, RGD:2325682 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,858,975...90,907,094
JBrowse link
G ANXA2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,064
JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:loss of heterozygosity
DNA:hypermethylation:promoter
RGD PMID:10212000, PMID:15467712 RGD:2317198, RGD:2317205 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ASPH aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,359...72,107,046
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509, PMID:25231345 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CYCS cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,515...70,068,821
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G FASLG Fas ligand (TNF superfamily, member 6) ISO RGD PMID:11029528 RGD:2317746 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G FGF2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,170...4,145,394
JBrowse link
G GNAS GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17356712, PMID:22561520 RGD:1601377 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,960...42,941,890
JBrowse link
G HGF hepatocyte growth factor ISO mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151, PMID:16974053 RGD:2317909, RGD:2317925 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
JBrowse link
G IL4R interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15011822, PMID:17621267, PMID:28925763 RGD:14975292, RGD:2317167 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,196...5,279,042
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066, PMID:22561520 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G KRT7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,714...17,571,141
JBrowse link
G LOC100524016 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 3:41,025,892...41,029,302 JBrowse link
G LOC100739163 glutathione S-transferase P-like treatment ISO DNA:hypermethylation:promoter
human cell line in a mouse model
RGD PMID:12805482, PMID:15467712 RGD:14401711, RGD:2317198 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased phosphorylation:liver, carcinoma (human)
protein:increased expression:liver, biliary epithelium (rat)
RGD PMID:14656942, PMID:16818635 RGD:2317578, RGD:2317601 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:bile duct RGD PMID:15213623, PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:bile duct
mRNA:increased expression:bile duct
RGD PMID:15213623, PMID:16463672 RGD:2324667, RGD:2325856 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:serum
protein:increased expression:bile duct:
protein:increased secretion:bile
mRNA:increased expression:bile duct
RGD PMID:15213623, PMID:18081149, PMID:19055478, PMID:19260467, PMID:19639217 RGD:2317986, RGD:2324622, RGD:2324638, RGD:2324664, RGD:2324667 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 2:689,363...719,542 JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841, PMID:19082442 RGD:2303602, RGD:2324944 NCBI chr13:134,192,412...134,248,435 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:11680592, PMID:14508831 RGD:2324948, RGD:2324990 NCBI chr 2:757,897...790,321 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 2:807,685...842,096 JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 2:630,075...657,967 JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,750...40,960,608
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bile duct
CTD
RGD
PMID:16094703, PMID:16818635 RGD:2325280 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11260864, PMID:11866974 RGD:2317134, RGD:2317136 NCBI chr13:66,038,669...66,045,478 JBrowse link
G P14ARF p14ARF protein onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 5:101,693,145...101,797,842
Ensembl chr 5:101,692,143...101,797,835
JBrowse link
G PBRM1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,721...34,820,957
JBrowse link
G PEG3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 6:61,281,931...61,307,788
Ensembl chr 6:61,285,456...61,292,885
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:65,074,876...65,095,564
Ensembl chr 2:65,074,870...65,095,553
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 6:129,520,397...129,636,207
Ensembl chr 6:129,519,962...129,635,517
JBrowse link
G PRSS2 serine protease 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr18:7,443,327...7,446,625
Ensembl chr18:7,443,327...7,446,625
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23376645, PMID:27022031 RGD:12802341 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16818635, PMID:19621664 RGD:2317180 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G RNF43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr12:34,631,574...34,695,021 JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr13:177,365,712...179,040,027
Ensembl chr13:177,365,717...179,013,542
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,215...82,595,026
JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,154...59,885,265
JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,852,230...76,857,139
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression ISO protein:increased expression:pancreas RGD PMID:12632524, PMID:16083599 RGD:1299231, RGD:2325020 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
G THBS1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969, PMID:12213730, PMID:16465407 RGD:2325024, RGD:2325026, RGD:2325027 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,781...131,746,115
JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,532,449...255,630,377
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635, PMID:22561520 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 severity ISO associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) RGD PMID:31121195 RGD:14974230 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G LOC100739163 glutathione S-transferase P-like ISO RGD PMID:22576464 RGD:10401932 NCBI chr 2:4,978,761...4,982,233 JBrowse link
cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8698195 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816485 NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,755...51,211,259
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:17102917 RGD:14995925 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,519...67,175,234
JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr12:21,115,453...21,119,115
Ensembl chr12:21,024,314...21,119,396
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:cd4-positive helper T cells (human) RGD PMID:30690835 RGD:14975104 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:29158418 RGD:14700923 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,447,357...45,925,113
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO RGD PMID:30340822 RGD:15090860 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G VDR vitamin D receptor ISO mRNA,protein:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr18:42,063,482...42,076,741 JBrowse link
G CFTR CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15830394, PMID:18988797 RGD:14700991 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,447,357...45,925,113
JBrowse link
G SCT secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,642
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr18:6,149,459...6,166,622
Ensembl chr18:6,149,458...6,165,212
JBrowse link
choledocholithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPG asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918
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 CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
protein:decreased expression:liver
CTD
RGD
PMID:11179459, PMID:12702498, PMID:22461449, PMID:24713091, PMID:27090119, PMID:27593105, PMID:29087027 RGD:14402412, RGD:14402414, RGD:15090804, RGD:1598571 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO DNA:mutations: : RGD PMID:11680581, PMID:26324191 RGD:11565494, RGD:1598589 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 disease_progression
treatment
ISO mRNA,protein:decreased expression:intestine:
mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10869290, PMID:12702498, PMID:15057744, PMID:16037978, PMID:17009103, PMID:17681005, PMID:22521610, PMID:27090119 RGD:11081007, RGD:11081011, RGD:15090804, RGD:1598571, RGD:1598614 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,656...111,078,873
JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18096675, PMID:22461449, PMID:23486593 RGD:11535162, RGD:2301060 NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,978,363
JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,893
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,594,778...96,616,229
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
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 1:273,022,014...273,066,916
Ensembl chr 1:273,022,000...273,056,039
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 8:121,266,794...121,282,313
Ensembl chr 8:121,266,764...121,282,311
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G ALB albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:239,109,814...239,114,736
Ensembl chr 1:239,110,018...239,114,728
JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chr 7:53,748,585...53,794,777
Ensembl chr 7:53,748,585...53,794,706
JBrowse link
G ALDH8A1 aldehyde dehydrogenase 8 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:29,060,682...29,083,815
Ensembl chr 1:29,060,710...29,083,166
JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G ARG1 arginase 1 ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...46,025,165
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BEX4 brain expressed X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:84,147,133...84,148,680
Ensembl chr  X:84,147,183...84,149,092
JBrowse link
G BLVRA biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr18:51,131,576...51,185,493
Ensembl chr18:51,121,946...51,185,437
JBrowse link
G BTG3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:182,209,850...182,228,626
Ensembl chr13:182,208,958...182,227,971
JBrowse link
G C8H4orf19 chromosome 8 C4orf19 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:29,012,884...29,103,163
Ensembl chr 8:29,013,082...29,103,161
JBrowse link
G CADPS2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:24,372,547...24,867,287
Ensembl chr18:24,372,544...24,867,284
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21339256, PMID:27989131 RGD:5130873 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G CD44 CD44 molecule ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,704...25,884,153
JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CLOCK clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 8:54,793,323...54,910,192
Ensembl chr 8:54,788,864...54,910,146
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO mRNA:increased expression:liver (rat)
ClinVar Annotator: match by term: Cholestasis
mRNA:increased expression:liver (mouse)
RGD
ClinVar
PMID:21274875, PMID:22094456, PMID:22824087, PMID:25741868, PMID:30311386 RGD:8552675, RGD:8552699, RGD:8552776 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CP ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,685...89,463,538
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100
JBrowse link
G CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,193
JBrowse link
G CYP2B22 cytochrome P450 2B22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,413
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9797378, PMID:22461449, PMID:29655695 RGD:15090803 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,342,856...74,372,638
JBrowse link
G CYP8B1 cytochrome P-450 8B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,171...26,337,379
JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:10,032,163...10,066,082
Ensembl chr 9:10,032,127...10,068,464
JBrowse link
G DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:36,578,928...36,584,211
Ensembl chr18:36,549,544...36,584,130
JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:71,005,326...71,050,397
Ensembl chr14:71,005,056...71,050,009
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G ENG endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 3:87,362,166...87,389,814
Ensembl chr 3:87,355,904...87,389,814
JBrowse link
G F2RL3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 2:60,742,978...60,747,014
Ensembl chr 2:60,742,996...60,744,864
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GHR growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,286...27,422,268
JBrowse link
G GTPBP2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:38,598,763...38,613,217
Ensembl chr 7:38,603,474...38,613,448
JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,361...2,840,902
JBrowse link
G HAO2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:101,588,510...101,787,818
Ensembl chr 4:101,588,861...101,787,823
JBrowse link
G HJV hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:99,327,989...99,332,647
Ensembl chr 4:99,328,053...99,332,647
JBrowse link
G HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:108,958,812...108,986,373
Ensembl chr14:108,959,134...108,986,726
JBrowse link
G HP haptoglobin ISO mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,627...17,463,386
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr17:35,316,518...35,317,742
Ensembl chr17:35,315,964...35,317,744
JBrowse link
G ID4 inhibitor of DNA binding 4, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:15,281,535...15,284,895
Ensembl chr 7:15,281,621...15,284,022
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:12826230, PMID:18607346 RGD:10046052 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,218,575
JBrowse link
G KMT2B lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr 6:45,146,863...45,166,854
Ensembl chr 6:45,146,846...45,166,852
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,582,059...98,623,908
JBrowse link
G LOC100738003 25-hydroxycholesterol 7-alpha-hydroxylase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
JBrowse link
G LOC100738425 multidrug resistance-associated protein 4 treatment ISO protein:altered expression:kidney, liver RGD PMID:15030973, PMID:30223280 RGD:15045612, RGD:2301085 NCBI chr11:64,861,069...64,996,684 JBrowse link
G LOC100739163 glutathione S-transferase P-like treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LY96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,054...61,950,697
JBrowse link
G MAOB monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:39,025,973...39,144,389
Ensembl chr  X:39,025,971...39,144,345
JBrowse link
G MAPK13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 7:31,880,643...31,889,586
Ensembl chr 7:31,880,638...31,890,385
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MBOAT1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:15,532,641...15,644,332
Ensembl chr 7:15,532,747...15,643,692
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817
JBrowse link
G MIR185 microRNA mir-185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
JBrowse link
G MIR190A microRNA mir-190a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:109,225,385...109,225,466
Ensembl chr 1:109,225,386...109,225,470
JBrowse link
G MIR218-1 microRNA mir-218-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424, PMID:30125006 NCBI chr 8:15,047,602...15,047,685
Ensembl chr 8:15,047,602...15,047,685
JBrowse link
G MIR27B microRNA mir-27b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr10:27,079,963...27,080,042
Ensembl chr10:27,079,954...27,080,056
JBrowse link
G MIR361 microRNA mir-361 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:68,924,500...68,924,579
Ensembl chr  X:68,924,500...68,924,579
JBrowse link
G MIR99A microRNA mir-99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567
JBrowse link
G MIRLET7I microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 5:27,252,802...27,252,886
Ensembl chr 5:27,252,787...27,252,894
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NFXL1 nuclear transcription factor, X-box binding like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:37,812,378...37,875,582
Ensembl chr 8:37,797,875...37,875,540
JBrowse link
G NIBAN1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:126,007,493...126,172,579
Ensembl chr 9:126,007,493...126,172,579
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912, PMID:20626112 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,603...124,132,860
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22461449, PMID:28337145 RGD:13439750 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,769...17,302,590
JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr12:22,263,549...22,274,131
Ensembl chr12:22,263,657...22,271,643
JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 6:55,238,536...55,245,457
Ensembl chr 6:55,237,953...55,245,456
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,270,789...15,334,820
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
severity
ISO mRNA, protein:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
mutant FXR-/- mouse
mRNA:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)
RGD
CTD
PMID:12949728, PMID:22461449, PMID:23178280, PMID:27090119, PMID:29235094, PMID:30061734, PMID:30077711, PMID:30223280 RGD:14701031, RGD:15042872, RGD:15045597, RGD:15045612, RGD:15090804, RGD:15092071 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,450
JBrowse link
G OTC ornithine carbamoyltransferase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:21,712,222...21,730,528
Ensembl chr 5:21,712,247...21,748,950
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PDYN prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,533
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
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 chr16:25,745,902...25,783,524
Ensembl chr16:25,745,321...25,783,610
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,391,064...7,421,261
JBrowse link
G RDX radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,441...38,376,439
JBrowse link
G REEP5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 2:116,845,681...116,886,361
Ensembl chr 2:116,845,571...116,886,359
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G RFLNB refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:47,307,657...47,316,652
Ensembl chr12:47,307,699...47,313,937
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
JBrowse link
G SERPINA5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:115,799,414...115,810,825
Ensembl chr 7:115,799,444...115,810,824
JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SLC10A1 solute carrier family 10 member 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119, PMID:29655695 RGD:15090803, RGD:15090804 NCBI chr 7:93,400,037...93,421,989
Ensembl chr 7:93,397,602...93,421,985
JBrowse link
G SLC10A7 solute carrier family 10 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655
JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:59,748,685...59,861,018
Ensembl chr  X:59,748,741...59,861,018
JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 2:141,258,318...141,277,555
Ensembl chr 2:141,258,323...141,276,442
JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr17:13,848,726...14,012,054
Ensembl chr17:13,848,726...14,011,700
JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:9,527,523...9,545,493 JBrowse link
G SLC51A solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753
JBrowse link
G SLC51B solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488
JBrowse link
G SLCO1A2 solute carrier organic anion transporter family member 1A2 treatment ISO mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22461449, PMID:27090119 RGD:15090804 NCBI chr 5:52,020,303...52,133,132
Ensembl chr 5:52,037,218...52,131,789
JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr 5:52,137,454...52,206,236 JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,393...51,552,504
JBrowse link
G SORL1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,016...48,653,655
JBrowse link
G SORT1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 4:110,721,110...110,791,406
Ensembl chr 4:110,720,100...110,789,702
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,561
JBrowse link
G SRP72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:55,729,202...55,762,298
Ensembl chr 8:55,729,116...55,762,020
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
G TJP1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,368...145,195,836
JBrowse link
G TLR2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TMED7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 2:119,794,608...119,804,406
Ensembl chr 2:119,788,483...119,804,463
JBrowse link
G TMEM117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:74,917,081...75,402,839
Ensembl chr 5:74,917,463...75,406,367
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,375
JBrowse link
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chr 8:104,500,204...104,560,711
Ensembl chr 8:104,498,710...104,560,509
JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,162
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VIL1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr15:120,463,470...120,494,772
Ensembl chr15:120,463,566...120,492,580
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 7:55,840,612...55,865,045 JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:11,715,332...11,752,009
Ensembl chr12:11,715,318...11,752,021
JBrowse link
G XDH xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
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 9:93,171,371...93,262,124 JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO OMIM NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
JBrowse link
G RPGRIP1L RPGRIP1 like ISO OMIM NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
G TMEM67 transmembrane protein 67 ISO OMIM NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G FSCN1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,170...4,145,394
JBrowse link
G LOC100524016 mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr 3:41,025,892...41,029,302 JBrowse link
G MTAP methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MUC4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr13:134,192,412...134,248,435 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 2:757,897...790,321 JBrowse link
congenital bile acid synthesis defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G LOC100738003 25-hydroxycholesterol 7-alpha-hydroxylase-like ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO OMIM NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,627...17,463,386
JBrowse link
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 4 ClinVar PMID:24614073, PMID:25741868, PMID:25921221 NCBI chr 1:222,474,518...222,612,989 JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO OMIM NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
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 LOC100738003 25-hydroxycholesterol 7-alpha-hydroxylase-like ISO OMIM NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase ISO OMIM NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,952,451...20,023,285
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD3 ATP binding cassette subfamily D member 3 ISO OMIM NCBI chr 4:122,847,925...122,929,454
Ensembl chr 4:122,837,525...122,953,257
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO OMIM NCBI chr13:40,220,952...40,255,967
Ensembl chr13:40,223,008...40,255,967
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 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,483,977...68,486,118
JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:4,977,245...4,988,283 JBrowse link
G CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,193
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:28660384, PMID:29360226 RGD:14995480, RGD:21203516 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,342,856...74,372,638
JBrowse link
G CYP8B1 cytochrome P-450 8B1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,171...26,337,379
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,196,999...57,249,886
JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chr11:774,090...781,252 JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:7,195,556...7,321,071 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 chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:153,686,425...153,687,635 JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,297,835
JBrowse link
G LGALS1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,062...10,156,210
JBrowse link
G LOC100738425 multidrug resistance-associated protein 4 treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr11:64,861,069...64,996,684 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,172,200
JBrowse link
G MAPK9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:78,338,466...78,399,108
Ensembl chr 2:78,338,369...78,399,105
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,964,071...22,983,109
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30026087, PMID:31900718 RGD:21201303 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression
treatment
ISO human gene in mouse model
protein:increased expression:liver (rat)
mRNA:increased expression:liver (rat)
RGD PMID:14623915, PMID:22057115, PMID:29138817, PMID:29360226 RGD:14928333, RGD:14995480, RGD:15042871, RGD:1625205 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,790...12,311,922
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G SETD7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chr 8:87,478,266...87,527,190
Ensembl chr 8:87,477,808...87,527,190
JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,116...7,365,520
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,835
JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:serum RGD PMID:10431747 RGD:6484593 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
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 ISO OMIM NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 severity ISO DNA:mutation:exon:p.E924X(mouse)
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:
RGD
ClinVar
PMID:8640229, PMID:9054656, PMID:14671619, PMID:19179303, PMID:21193012, PMID:23390527, PMID:23934996 RGD:11041609, RGD:11251674, RGD:11251675, RGD:11251676, RGD:11251680, RGD:11251681, RGD:1578350 NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,763,876...10,985,191
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,956,000
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive RGD
ClinVar
PMID:1558976 RGD:1598910 NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
JBrowse link
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO mRNA:splicing error:intron:IVS8+1G>T (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:duplication:cds: (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G771D (human)
RGD
ClinVar
CTD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:deletion:cds:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:polymorphisms:introns,exon:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 RGD:11059521, RGD:11059522 NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
G SPTB spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,604
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO OMIM NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,763,876...10,985,191
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic ISO OMIM NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
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 ISO OMIM NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB42 erythrocyte membrane protein band 4.2 ISO OMIM NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031
JBrowse link
intrahepatic cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Intrahepatic Cholangiocarcinoma ClinVar PMID:24728327, PMID:25479140, PMID:25741868, PMID:26530882, PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase severity ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand (TNF superfamily, member 6) severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 no_association ISO DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: : RGD PMID:22824796 RGD:14985256 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD PMID:24139215 RGD:14398746 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MIR221 microRNA mir-221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:40,571,068...40,571,137
Ensembl chr  X:40,571,068...40,571,137
JBrowse link
G SMAD4 SMAD family member 4 disease_progression ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866, PMID:23981608 RGD:18936999, RGD:21066336 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 susceptibility ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9806540, PMID:12370274, PMID:14672610, PMID:15791618, PMID:17855769, PMID:18049162, PMID:18395098, PMID:19101985, PMID:22619174, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:28492532, PMID:30311386 RGD:14688049, RGD:1598583 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
RGD
ClinVar
PMID:8106172, PMID:18781607, PMID:30311386, PMID:30935993 RGD:1300325, RGD:14695044, RGD:14695045 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutation
CTD
RGD
PMID:9500542, PMID:18379143 RGD:1599397 NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,818
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083, PMID:22094456 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,506,052
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis ClinVar PMID:30311386 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CBAS1, OMIM:607765 RGD PMID:12679481 RGD:1599971 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,627...17,463,386
JBrowse link
G MAF MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,112...8,485,223
JBrowse link
G MAFG MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr12:1,069,074...1,078,081
Ensembl chr12:1,071,632...1,074,703
JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 ISO mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chr 6:84,225,670...84,228,156
Ensembl chr 6:84,225,694...84,228,094
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,116...7,365,520
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
JBrowse link
G TJP2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:222,474,518...222,612,989 JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis of pregnancy
CTD
ClinVar
PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
G HDAC3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
intrahepatic cholestasis of pregnancy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:15300568, PMID:16039748, PMID:16871584, PMID:17855769, PMID:18395098, PMID:19101985, PMID:20232290, PMID:20583290, PMID:23022423, PMID:23279303, PMID:23750872, PMID:24231640, PMID:24402531, PMID:24991443, PMID:25741868, PMID:27050426, PMID:27153395, PMID:28492532, PMID:32581362 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chr 9:93,171,371...93,262,124 JBrowse link
Klatskin's tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN1 claudin 1 ISO OMIM NCBI chr13:127,714,857...127,730,628
Ensembl chr13:127,712,767...127,730,657
JBrowse link
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr13:127,808,599...127,831,081
Ensembl chr13:127,808,599...127,830,717
JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UTP4 UTP4 small subunit processome component ISO OMIM NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,162
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,313,936
JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,393,818...41,429,551
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,125,814...14,185,276
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,333,153...8,365,558
JBrowse link
primary biliary cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD
RGD
PMID:18671305, PMID:20040336, PMID:30682444 RGD:14694982 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD
RGD
PMID:15542527, PMID:15770136 RGD:14700810 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,656...111,078,873
JBrowse link
G ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACE2 angiotensin I converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD
RGD
PMID:12126966, PMID:15770052 RGD:14995336 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CD3D CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221
JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,980
JBrowse link
G CDH5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,609...27,142,180
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CENPB centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr17:31,929,846...31,932,539 JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,558
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,734
JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr16:50,430,345...50,499,086
Ensembl chr16:50,426,816...50,499,065
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association
susceptibility
disease_progression
ISO DNA:SNP:CDS:49A>G(human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
RGD PMID:10782900, PMID:16584111, PMID:17482523, PMID:21594562 RGD:14398725, RGD:14398743, RGD:14398744, RGD:2301998 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,495...71,670,271
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,127,488...46,146,637
JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:4,977,245...4,988,283 JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
JBrowse link
G DENND1B DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:20,391,507...20,635,808
Ensembl chr10:20,395,462...20,636,247
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,600...38,646,834
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15651265 RGD:9685530
G FAS Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645, PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,737...83,679,136
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:69,143,063...69,150,221
Ensembl chr 2:69,143,075...69,150,263
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
JBrowse link
G IL10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL12A interleukin 12A susceptibility
treatment
ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
DNA:SNP: :rs62270414(human)
RGD
CTD
PMID:19458352, PMID:20639880, PMID:23433321, PMID:27175695 RGD:25440489, RGD:25440498, RGD:25440500 NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility ISO RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585
JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,297,835
JBrowse link
G KRT18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,222,833
JBrowse link
G KRT7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,714...17,571,141
JBrowse link
G LBR lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
G LEP leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,593,116...125,607,594
JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,863...7,540,704
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,526,653...7,528,823
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,432,191...64,472,712
JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 2:689,363...719,542 JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21903766, PMID:30026087 RGD:5509055 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,937...144,956,095
JBrowse link
G NSA2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:83,843,893...83,851,232
Ensembl chr 2:83,843,898...83,852,212
JBrowse link
G NUP62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 6:54,921,627...54,945,705
Ensembl chr 6:54,921,627...54,923,227
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,947
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr12:36,111,584...36,159,287 JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr18:6,149,459...6,166,622
Ensembl chr18:6,149,458...6,165,212
JBrowse link
G SLC51A solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753
JBrowse link
G SLC51B solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488
JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 5:52,234,396...52,315,311
Ensembl chr 5:52,230,398...52,315,026
JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SPIB Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 6:55,272,847...55,280,881 JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,561
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes:multiple
DNA:SNP: intron: (rs7574865) (human)
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
RGD
CTD
PMID:21399635, PMID:24648611, PMID:26084578, PMID:28395724 RGD:25671415, RGD:25671416, RGD:25671421 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TLR9 toll like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human)
mRNA:increased expression:liver
RGD PMID:9047083, PMID:17158635 RGD:14995307, RGD:38501106 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,799...69,183,461
JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 7:22,501,130...22,502,883
Ensembl chr 7:22,501,130...22,503,094
JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,162
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :
DNA:polymorphism: :
RGD PMID:15683428, PMID:19376604 RGD:14401750, RGD:14402024 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:
RGD PMID:26615570, PMID:26627607 RGD:11528851, RGD:11538286 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
primary sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator susceptibility ISO associated with inflammatory bowel disease; DNA:misense mutations:multiple RGD PMID:12783301 RGD:25671445 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,600...38,646,834
JBrowse link
G KRT18 keratin 18 severity ISO protein:increased degradation:serum (human) RGD PMID:26195313 RGD:18337492 NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,222,833
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:decreased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VDR vitamin D receptor ISO mRNA:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
progressive familial 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 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:9806540, PMID:10579978, PMID:12370274, PMID:15300568, PMID:16039748, PMID:17855769, PMID:18395098, PMID:19101985, PMID:24991443, PMID:28492532, PMID:32581362 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
CTD
ClinVar
PMID:12891548, PMID:17726488, PMID:18482588, PMID:19584064, PMID:21056966, PMID:23533021, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26900700, PMID:32581362 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 ClinVar PMID:21633855, PMID:26888176 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
progressive familial 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 disease_progression ISO DNA:mutation:cds:p.D482G(human)
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
OMIM
RGD
PMID:20447715, PMID:23758865 RGD:14402418, RGD:14688048 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2 ClinVar PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chr 9:93,171,371...93,262,124 JBrowse link
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO OMIM NCBI chr 1:222,474,518...222,612,989 JBrowse link
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 NCBI chr 8:104,500,204...104,560,711
Ensembl chr 8:104,498,710...104,560,509
JBrowse link
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO OMIM NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO OMIM NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15236191, PMID:16472600, PMID:29808285 RGD:14694980 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G BCL2L11 BCL2 like 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21151127 NCBI chr 3:45,156,791...45,202,996 JBrowse link
G DCDC2 doublecortin domain containing 2 ISO DNA:missense mutation, deletion:cds:p.K17N, p.F142_R186del (human)
ClinVar Annotator: match by term: Sclerosing cholangitis, neonatal
RGD
ClinVar
PMID:25557784, PMID:25741868, PMID:27319779, PMID:27469900, PMID:28492532 RGD:11568452 NCBI chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G MST1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21151127 NCBI chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992413 NCBI chr13:205,744,395...205,786,484
Ensembl chr13:205,744,393...205,787,094
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12615
    disease of anatomical entity 12148
      gastrointestinal system disease 4070
        biliary tract disease 408
          bile duct disease 377
            Bile Duct Neoplasms + 81
            Cholangiofibrosis 3
            ampulla of Vater neoplasm + 0
            biliary atresia + 16
            cholangitis + 27
            choledochal cyst + 8
            cholestasis + 292
            common bile duct disease + 8
            extrahepatic bile duct lipoma 0
            fascioliasis 2
            perforation of bile duct 0
Path 2
Term Annotations click to browse term
  disease 12615
    disease of anatomical entity 12148
      gastrointestinal system disease 4070
        hepatobiliary disease 2294
          biliary tract disease 408
            bile duct disease 377
              Bile Duct Neoplasms + 81
              Cholangiofibrosis 3
              ampulla of Vater neoplasm + 0
              biliary atresia + 16
              cholangitis + 27
              choledochal cyst + 8
              cholestasis + 292
              common bile duct disease + 8
              extrahepatic bile duct lipoma 0
              fascioliasis 2
              perforation of bile duct 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.