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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:biliary tract disease
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Accession:DOID:9741 term browser browse the term
Definition:Diseases in any part of the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.
Synonyms:exact_synonym: biliary tract diseases
 primary_id: MESH:D001660;   RDO:0004992
 xref: ICD10CM:K83.9;   ICD9CM:576.9
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
biliary tract disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118450
DNA:insertion:exon:c.962_963insA (human)
ClinVar
CTD
OMIM
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... RGD:1580651, RGD:6482237, RGD:6482232 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2
ClinVar Annotator: match by OMIM:610205
ClinVar
OMIM
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:31749841 More... RGD:1580762 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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 chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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 chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17994566 More... NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753 PMID:25741868 PMID:28492532 NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Cholestasis, benign recurrent intrahepatic 1
DNA:missense mutation:cds:p.I661T (human)
ClinVar
OMIM
PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:15239083 More... RGD:14401576 NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 OMIM
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:14672610 More... NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 PMID:30287823 NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msln mesothelin ISO protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
JBrowse link
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 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fech ferrochelatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10464147 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
G Magee1 MAGE family member E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30515189 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810
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 5:22,603,879...22,814,107
Ensembl chr 5:22,603,486...22,813,876
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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 chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:
RGD PMID:30059753 PMID:10726686 RGD:14695528, RGD:14695529 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Mir145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:liver RGD PMID:28355202 PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Sox17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
biliary tract benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin disease_progression ISO RGD PMID:20358256 RGD:2325676 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481
JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:serum
associated with Biliary Tract Disease;protein:decreased expression:serum
RGD PMID:15138553 PMID:15287856 RGD:2317743, RGD:2317742 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Hgf hepatocyte growth factor ISO mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:18798553 RGD:2317263 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:18159174 RGD:2317165 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO RGD PMID:16373701 RGD:2317953 NCBI chr 5:103,873,020...103,939,406
Ensembl chr 5:103,873,020...103,939,406
JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19129927 RGD:2317987 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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 chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430 PMID:20431764 PMID:17545000 RGD:2325682, RGD:2325679, RGD:2325680 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
JBrowse link
G Anxa8 annexin A8 ISO RGD PMID:19376120 RGD:2325733 NCBI chr16:9,397,144...9,412,072
Ensembl chr16:9,397,113...9,412,043
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:hypermethylation:promoter
DNA:loss of heterozygosity
RGD PMID:15467712 PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Asph aspartate-beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 5:22,603,879...22,814,107
Ensembl chr 5:22,603,486...22,813,876
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cycs cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Epo erythropoietin IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Epor erythropoietin receptor IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
no_association
ISO DNA:SNP: :g.148505302C>T (rs887569) (human)
DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
RGD PMID:24179546 PMID:24179546 RGD:126779604, RGD:126779604 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22561520 PMID:17356712 RGD:1601377 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO DNA:hypermethylation:promoter
human cell line in a mouse model
RGD PMID:15467712 PMID:12805482 RGD:2317198, RGD:14401711 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Hgf hepatocyte growth factor IEP
ISO
mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151 PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:17621267 PMID:15011822 PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression IEP
ISO
protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)
RGD PMID:14656942 PMID:16818635 RGD:2317601, RGD:2317578 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir192 microRNA 192 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression IEP
ISO
protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IEP
mRNA:increased expression:bile duct
protein:increased expression:bile duct
RGD PMID:16463672 PMID:15213623 PMID:15213623 RGD:2325856, RGD:2324667, RGD:2324667 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO
IEP
protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:
mRNA:increased expression:bile duct
RGD PMID:19055478 PMID:19260467 PMID:15213623 PMID:18081149 PMID:19639217 RGD:2324622, RGD:2324664, RGD:2324667, RGD:2324638, RGD:2317986 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Muc3 mucin 3, intestinal ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:19,527,251...19,536,924 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO
IEP
protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:14508831 PMID:11680592 RGD:2324990, RGD:2324948 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
JBrowse link
G Nat2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635 PMID:16094703 RGD:2325280 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 disease_progression IEP mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11866974 PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Osbp2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr14:78,585,088...78,746,785
Ensembl chr14:78,585,089...78,746,786
JBrowse link
G Osbpl7 oxysterol binding protein-like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
JBrowse link
G Ppia peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
JBrowse link
G Prss2 protease, serine, 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 4:70,278,304...70,283,385
Ensembl chr 4:70,278,304...70,283,385
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27022031 PMID:23376645 RGD:12802341 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635 PMID:19621664 RGD:2317180 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
JBrowse link
G Rnf43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr10:72,461,508...72,535,977
Ensembl chr10:72,464,348...72,536,977
JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Sox17 SRY-box transcription factor 17 severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO
IEP
protein:increased expression:pancreas RGD PMID:16083599 PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969 PMID:12213730 PMID:16465407 RGD:2325027, RGD:2325026, RGD:2325024 NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
JBrowse link
G Tnc tenascin C severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO RGD PMID:9230212 RGD:2325161 NCBI chr 9:88,696,981...88,808,465 JBrowse link
Cholangiofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand treatment IDA RGD PMID:23820408 RGD:11352285 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 IEP RGD PMID:22576464 RGD:10401932 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Mir192 microRNA 192 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816485 NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IEP RGD PMID:17102917 RGD:14995925 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 treatment IEP RGD PMID:17102917 RGD:14995925 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr10:85,075,835...85,080,552 JBrowse link
G Muc3 mucin 3, intestinal IEP mRNA:increased expression:bile duct RGD PMID:19032457 RGD:2325170 NCBI chr12:19,527,251...19,536,924 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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:29158418 RGD:14700923 NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO RGD PMID:30340822 RGD:15090860 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISS OMIM:600803 MouseDO NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
cholecystolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:9695991 RGD:6482724 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:promoter: RGD PMID:18392554 RGD:10768868 NCBI chr 9:88,801,344...88,808,465 JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
choledocholithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
JBrowse link
cholelithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
JBrowse link
G Cckar cholecystokinin A receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle RGD PMID:15908333 RGD:2314139 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:altered expression:liver (human) RGD PMID:12184527 RGD:21408573 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
JBrowse link
G Sqle squalene epoxidase ISO RGD PMID:14684588 RGD:1581398 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:15062879 RGD:1581417 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO associated with Spherocytosis, Hereditary;DNA:insertion:promoter
associated with Alpha-Thalassemia;DNA:repeat:promoter:(TA)
associated with Beta-Thalassemia; DNA:mutation,repeat:cds,promoter; p. G71R,(TA) (human)
RGD PMID:10498597 PMID:17593033 PMID:18081723 RGD:6482853, RGD:10769341, RGD:10768828 NCBI chr 9:88,801,344...88,808,465 JBrowse link
cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 treatment
susceptibility
IDA
IEP
ISO
mRNA:altered expression:liver (rat)
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:11179459 PMID:22461449 PMID:24713091 PMID:12702498 PMID:27090119 More... RGD:1598571, RGD:15090804, RGD:14402414, RGD:14402412 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP RGD PMID:11680581 RGD:1598589 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 IEP
ISO
ISS
DNA:mutations: : MouseDO PMID:11680581 PMID:26324191 RGD:1598589, RGD:11565494 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment
disease_progression
IAGP
IEP
ISO
IMP
mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:intestine:
mRNA,protein:decreased expression:intestine:
CTD PMID:10869290 PMID:17681005 PMID:22521610 PMID:12702498 PMID:27090119 More... RGD:1598571, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598614 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP
ISO
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:22461449 PMID:18096675 PMID:23486593 RGD:2301060, RGD:11535162 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 treatment IEP protein:altered expression:kidney, liver RGD PMID:15030973 PMID:30223280 RGD:2301085, RGD:15045612 NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 IEP RGD PMID:16764892 RGD:1598662 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 IEP RGD PMID:16764892 RGD:1598662 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 IEP mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide IEP mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 2:226,975,184...226,987,591 JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alb albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 treatment IEP RGD PMID:30223280 RGD:15045612 NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:16,183,940...16,203,385
Ensembl chr 1:16,183,940...16,203,385
JBrowse link
G Apoc3 apolipoprotein C3 IEP RGD PMID:17201892 RGD:10054045 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Arg1 arginase 1 IEP protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like IEP mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597
JBrowse link
G Bex4 brain expressed, X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:99,132,076...99,133,413
Ensembl chr  X:99,131,942...99,133,531
JBrowse link
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:51,780,415...52,309,641
Ensembl chr 4:51,781,053...52,309,829
JBrowse link
G Cat catalase IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:27989131 PMID:21339256 RGD:5130873 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Cd14 CD14 molecule IEP RGD PMID:22511970 RGD:7183752 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd44 CD44 molecule (Indian blood group) IEP protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cftr CF transmembrane conductance regulator IEP mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Clock clock circadian regulator IEP mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO
IEP
IDA
mRNA:increased expression:liver (mouse)
mRNA:increased expression:liver (rat)
RGD PMID:22094456 PMID:22824087 PMID:21274875 RGD:8552675, RGD:8552776, RGD:8552699 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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 chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008
JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:9797378 PMID:22461449 PMID:29655695 RGD:15090803 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 6:61,270,385...61,276,795
Ensembl chr 6:61,269,913...61,275,063
JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eng endoglin IEP protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:104,655,745...104,693,508
Ensembl chr14:104,655,673...104,693,480
JBrowse link
G F2rl3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr16:17,117,441...17,119,434
Ensembl chr16:17,117,441...17,119,472
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP RGD PMID:18802767 RGD:2307352 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ghr growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment IDA RGD PMID:25932098 RGD:14701043 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment IEP RGD PMID:23960717 RGD:10401941 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:240,856,991...240,884,243
Ensembl chr 1:240,857,126...240,884,568
JBrowse link
G Hp haptoglobin IEP mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein IEP protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470
JBrowse link
G Igf1 insulin-like growth factor 1 IEP
ISO
CTD Direct Evidence: therapeutic CTD PMID:12826230 PMID:18607346 RGD:10046052 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il1a interleukin 1 alpha IEP protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 IEP RGD PMID:20031157 RGD:2317270 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118
G LOC498368 similar to RIKEN cDNA 0610040J01 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:44,387,386...44,478,344
Ensembl chr14:44,387,393...44,478,041
JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
JBrowse link
G Maob monoamine oxidase B IEP protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Mapk13 mitogen activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:34,331,413...34,445,088
Ensembl chr17:34,331,422...34,445,088
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
JBrowse link
G Mir185 microRNA 185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
JBrowse link
G Mir190 microRNA 190 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 8:67,850,987...67,851,071 JBrowse link
G Mir27b microRNA 27b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr17:1,813,427...1,813,523
Ensembl chr17:1,813,426...1,813,529
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
JBrowse link
G Mir361 microRNA 361 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:78,246,206...78,246,275
Ensembl chr  X:78,246,206...78,246,275
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:128,755,051...128,755,122 JBrowse link
G Mir411 microRNA 411 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:128,723,189...128,723,264
Ensembl chr 6:128,723,184...128,723,279
JBrowse link
G Mir875 microRNA 875 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
JBrowse link
G Mirlet7b microRNA let-7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270
JBrowse link
G Mirlet7i microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:58,642,485...58,642,569
Ensembl chr 7:58,642,480...58,642,571
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:21274875 RGD:8552699 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:35,626,086...35,667,505
Ensembl chr14:35,626,066...35,667,498
JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:63,674,240...63,827,748
Ensembl chr13:63,674,171...63,827,729
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912 PMID:20626112 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:22461449 PMID:28337145 RGD:13439750 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 1:95,041,967...95,047,377
Ensembl chr 1:95,041,967...95,047,377
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
severity
ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)
mRNA, protein:altered expression:liver (rat)
mutant FXR-/- mouse
CTD PMID:22461449 PMID:23178280 PMID:27090119 PMID:30061734 PMID:30223280 More... RGD:15090804, RGD:15092071, RGD:15045612, RGD:15045597, RGD:15042872, RGD:14701031 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
JBrowse link
G Otc ornithine transcarbamylase IEP protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 treatment IEP mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
JBrowse link
G Pygm glycogen phosphorylase, muscle associated IDA mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:25,945,375...25,983,271
Ensembl chr18:25,945,381...25,976,509
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:60,893,693...60,899,970
Ensembl chr10:60,893,713...60,899,976
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Serpina5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Slc10a1 solute carrier family 10 member 1 treatment IEP mRNA:altered expression:liver (rat) RGD PMID:29655695 PMID:27090119 RGD:15090803, RGD:15090804 NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
JBrowse link
G Slc10a7 solute carrier family 10, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr 8:65,931,891...65,934,893
Ensembl chr 8:65,931,890...65,940,145
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
CTD PMID:22461449 PMID:27090119 RGD:15090804 NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573
JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 IEP mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:31,168,175...31,195,717 JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:8707259 RGD:2290364 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tjp1 tight junction protein 1 IEP protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tmed7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:39,318,564...39,325,640
Ensembl chr18:39,297,351...39,325,640
JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:125,757,591...126,219,692
Ensembl chr 7:125,757,591...126,219,690
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:29867509 RGD:14694823 NCBI chr 9:88,801,344...88,808,465 JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846
JBrowse link
G Xdh xanthine dehydrogenase IEP protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:21068128 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by OMIM:216360
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: COACH syndrome
DNA:missense mutations: :multiple
ClinVar
CTD
PMID:2929661 PMID:8862632 PMID:9536098 PMID:12368986 PMID:17160906 More... RGD:11535946, RGD:11535944 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH SYNDROME 1 OMIM
ClinVar
PMID:17397051 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 2 OMIM
ClinVar
PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH SYNDROME 3 OMIM
ClinVar
PMID:17558409 PMID:19574260 PMID:26092869 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 5:103,873,020...103,939,406
Ensembl chr 5:103,873,020...103,939,406
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
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 chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1
ClinVar Annotator: match by OMIM:607765
OMIM
ClinVar
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
ClinVar Annotator: match by OMIM:235555
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:19175828 More... NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 3 OMIM
ClinVar
PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4
OMIM
ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 ClinVar
OMIM
PMID:25168382 PMID:25741868 NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 6
ClinVar
OMIM
PMID:25741868 PMID:27647924 PMID:27884763 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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 IEP mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) RGD PMID:28660384 RGD:21203516 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 treatment IEP mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Crh corticotropin releasing hormone IEP protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 treatment IEP mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 treatment IEP mRNA:decreased expression:liver (rat)
mRNA:decreased expression:liver, nucleus (rat)
RGD PMID:29360226 PMID:28660384 RGD:14995480, RGD:21203516 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 treatment IEP mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Gjb1 gap junction protein, beta 1 IEP mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP RGD PMID:7762611 RGD:7349397 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IEP mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Hnf1a HNF1 homeobox A IEP mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) RGD PMID:15723437 RGD:14700989 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
JBrowse link
G Lgals1 galectin 1 IEP mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:30026087 PMID:31900718 RGD:21201303 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
disease_progression
IDA
IEP
ISO
mRNA:increased expression:liver (rat)
protein:increased expression:liver (rat)
human gene in mouse model
RGD PMID:14623915 PMID:29360226 PMID:29138817 PMID:22057115 RGD:1625205, RGD:14995480, RGD:15042871, RGD:14928333 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IMP RGD PMID:18466260 RGD:10449503 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Ptn pleiotrophin IEP mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase treatment IMP RGD PMID:24097032 RGD:9491846 NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468
JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 PMID:31932644 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
fascioliasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsb cathepsin B IEP protein:decreased activity:liver (rat) RGD PMID:19696938 RGD:2315504 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:increased expression:serum RGD PMID:10431747 RGD:6484593 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
gallbladder adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:polymorphism: :rs4646994 (human) RGD PMID:20438364 RGD:2325207 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
JBrowse link
gallbladder cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:20082485 PMID:17696941 RGD:2325761, RGD:2325764 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 onset ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:18405329 RGD:2317570 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 susceptibility ISO DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:transition: :6235T>C (human)
DNA:polymorphism: :p.I462V (human)
RGD PMID:18287863 PMID:18990008 RGD:2317212, RGD:2317211 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Egf epidermal growth factor susceptibility ISO DNA:SNP: :+61A>G (rs4444903)(human) RGD PMID:8093356 PMID:18571008 RGD:2317646, RGD:2317641 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:26925680 RGD:14700928 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human) RGD PMID:18692501 RGD:6893398 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10479724 PMID:10764709 PMID:16152648 PMID:21465659 PMID:23239472 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphisms: :p.R194W, p.R399Q (human) RGD PMID:19266243 RGD:2317128 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:7795450 RGD:2317512 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
JBrowse link
G Actr3 actin related protein 3 severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
G Cfl1 cofilin 1 severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:16397024 PMID:23220880 PMID:26619011 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:26619011 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr16:51,202,497...51,347,791
Ensembl chr16:51,253,562...51,347,793
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Tgfa transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:1565143 PMID:2113594 PMID:8023157 PMID:8062826 PMID:8164043 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
gallbladder disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISS OMIM:609918 | OMIM:609919 | OMIM:611465 MouseDO NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
Gallbladder Disease 1 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: Gallbladder disease 1
DNA:missense mutation:cds:p.Thr175Ala(human)
OMIM
ClinVar
PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:15077010 More... RGD:14694981 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
Gallbladder Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Gallbladder disease 4 ClinVar PMID:11893785 PMID:17632509 PMID:28492532 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Gallbladder disease 4 OMIM
ClinVar
PMID:11893785 PMID:17632509 PMID:28492532 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
Gallbladder Neoplasms 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 DNA:hypermethylation:promoter RGD PMID:15447999 RGD:2317199 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16904648 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Cckar cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25025063 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 PMID:24997986 RGD:126781772 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:SNP: :p.D312N (rs1799793) (human) RGD PMID:21283657 RGD:5688734 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Faslg Fas ligand disease_progression ISO protein:increased expression:gallbladder RGD PMID:15968727 RGD:2317739 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fscn1 fascin actin-bundling protein 1 severity ISO RGD PMID:19259612 RGD:2317784 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:16760134 RGD:2317808 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15118756 RGD:2317899 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human) RGD PMID:18940468 RGD:2317216 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:gallbladder RGD PMID:18798553 RGD:2317263 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18692501 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO protein:increased expression:gallbladder (human) RGD PMID:19956499 RGD:2317582 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression
resistance
ISO protein:decreased expression:tumor (human)
DNA:transition:exon:EX5-25C>T rs12917 (human)
RGD PMID:18158568 PMID:18708406 RGD:2317637, RGD:2317636 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:gallbladder RGD PMID:18665467 RGD:2325743 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO mRNA,protein:increased expression:gallbladder RGD PMID:10398137 RGD:2324857 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum RGD PMID:17542293 RGD:2325132 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO protein:increased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Muc4 mucin 4, cell surface associated ISO mRNA,protein:increased expression:gallbladder RGD PMID:18397823 RGD:2324921 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:SNP: :rs1495741(human) RGD PMID:20972438 RGD:11056814 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO protein:increased expression:epithelial cell RGD PMID:15100237 RGD:2326070 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:gallbladder
associated with Gallbladder Diseases; protein:decreased expression:gllbladder
RGD PMID:14991947 PMID:14704000 RGD:2325250, RGD:2325251 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO DNA:deletion:exon:exons 5 and 6, estrogen dependent RGD PMID:20679224 RGD:6482195 NCBI chr 1:95,041,967...95,047,377
Ensembl chr 1:95,041,967...95,047,377
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:polymorphism: :p.S326C (human)
DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human)
RGD PMID:19266243 PMID:20564624 RGD:2317128, RGD:8657150 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human) RGD PMID:19606394 PMID:19455278 PMID:17575102 RGD:2317181, RGD:2317182, RGD:2317188 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility ISO DNA:polymorphism: : -509C>T (human) RGD PMID:18571008 RGD:2317641 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO RGD PMID:10427124 RGD:2325029 NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:24997986 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16965602 NCBI chr14:41,485,033...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
Gallstones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632509 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631261 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21823526 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7461467 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 RGD:18936999 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter:(TA)
associated with Beta-Thalassemia;DNA:repeat:promoter:(TA)
RGD PMID:15388579 PMID:14555305 RGD:10769331, RGD:10769338 NCBI chr 9:88,801,344...88,808,465 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 ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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 ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar PMID:8640229 PMID:14671619 PMID:9054656 PMID:23390527 PMID:19179303 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
G Klf1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
ClinVar
CTD
PMID:1378323 PMID:8282779 PMID:9326249 PMID:9207478 PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:8941647 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 More... RGD:11059521, RGD:11059522 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:19538529 RGD:11059526 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 More... NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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 ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736 PMID:3654760 PMID:6215583 PMID:7883966 PMID:8102379 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 4
ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis type 5
ClinVar Annotator: match by OMIM:612690
OMIM
ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression
exacerbates
ISO mRNA,protein:decreased expression:intrahepatic bile duct (human) RGD PMID:30849962 PMID:27433094 PMID:31665232 RGD:14974231, RGD:126775257, RGD:126781775 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Bap1 Brca1 associated protein 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase severity IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Foxp3 forkhead box P3 IDA DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: :
mRNA:decreased expression:liver (mouse)
RGD PMID:22824796 PMID:32463951 RGD:14985256, RGD:149735894 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISS
ISO
DNA:mutations:: MouseDO PMID:24139215 RGD:14398746 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lcn2 lipocalin 2 treatment IDA
ISO
Protein:increased expression:bile duct RGD PMID:24939880 PMID:24939880 RGD:126790491, RGD:126790491 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
JBrowse link
G Mir200b microRNA 200b ISO RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir221 microRNA 221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Pbrm1 polybromo 1 ISO RGD PMID:27864835 RGD:150340628 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:intrahepatic bile duct RGD PMID:31015363 RGD:126775143 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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 chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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 CTD Direct Evidence: marker/mechanism CTD PMID:18049162 PMID:9806540 PMID:22619174 RGD:1598583, RGD:14688049 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO
ISS
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878
MouseDO PMID:8106172 PMID:30935993 PMID:18781607 RGD:1300325, RGD:14695045, RGD:14695044 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:18379143 PMID:9500542 RGD:1599397 NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
JBrowse link
G Maf MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr10:105,903,307...105,911,845
Ensembl chr10:105,903,237...105,912,026
JBrowse link
G Mir27a microRNA 27a ISO mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 IEP mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 IDA RGD PMID:15644430 RGD:1625202 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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 chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3
ClinVar Annotator: match by OMIM:614972
OMIM
ClinVar
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316