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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 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
acalculous cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Acalculous cholecystitis ClinVar PMID:17726488, PMID:18482588, PMID:19584064, PMID:23533021, PMID:25741868, PMID:25807286 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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:9585603, PMID:9700188, PMID:10213047, PMID:10220506, PMID:10533065, PMID:11058898, PMID:11139239, PMID:11152664, PMID:11157803, PMID:11180599, PMID:12022040, PMID:12239725, PMID:12244555, PMID:12297837, PMID:12442286, PMID:12497640, PMID:12649809, PMID:15358557, PMID:15712272, PMID:16575836, PMID:16875832, PMID:17241866, PMID:17720887, PMID:17949281, PMID:18660822, PMID:19058200, PMID:19948535, PMID:20301450, PMID:20437614, PMID:20586101, PMID:21532573, PMID:21752016, PMID:22040217, PMID:22382802, PMID:22487239, PMID:23891399, PMID:23956173, PMID:24033266, PMID:24748328, PMID:25260786, PMID:25525159, PMID:25676721, PMID:25741868, PMID:26076142, PMID:26548814, PMID:26760175, PMID:27256232, PMID:28372585, PMID:28492532, PMID:28695677, PMID:29187043, PMID:29783821, PMID:30074189, PMID:11745040, PMID:16875832, PMID:21714972 RGD:1580651, RGD:6482237, RGD:6482232 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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:16773578 RGD:1580762 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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 3:129,884,871...130,069,371
Ensembl chr 3:129,885,826...130,069,390
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 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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, PMID:15888793, PMID:19731236, PMID:19918981, PMID:20981092, PMID:22995991, PMID:25741868, PMID:26879107, PMID:28492532, PMID:9918928 RGD:14401576 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
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:15300568, PMID:16039748, PMID:16871584, PMID:17855769, PMID:18395098, PMID:19101985, PMID:20583290, PMID:24231640, PMID:24402531, PMID:24991443, PMID:25741868, PMID:27050426, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
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 chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
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 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fech ferrochelatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10464147 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Magee1 MAGE family member E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30515189 NCBI chr  X:76,083,553...76,087,100
Ensembl chr  X:76,083,549...76,087,117
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 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910, PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Mir145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:liver RGD PMID:28355202, PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Sox17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
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 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr13:52,083,873...52,088,798
Ensembl chr13:52,083,859...52,088,780
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 chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Hgf hepatocyte growth factor ISO mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:18798553 RGD:2317263 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:18159174 RGD:2317165 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO RGD PMID:16373701 RGD:2317953 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19129927 RGD:2317987 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
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 chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:66,090,178...66,147,998
Ensembl chr 4:66,090,209...66,148,001
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 chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430, PMID:20431764, PMID:17545000 RGD:2325682, RGD:2325679, RGD:2325680 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa8 annexin A8 ISO RGD PMID:19376120 RGD:2325733 NCBI chr16:10,417,174...10,432,388
Ensembl chr16:10,417,185...10,432,393
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Asph aspartate-beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509, PMID:25231345 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cycs cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Epo erythropoietin IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
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 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066, PMID:22561520 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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 chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc3 mucin 3, intestinal ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:22,535,663...22,584,775 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 chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
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 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Nat2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
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 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr16:7,103,714...7,202,899
Ensembl chr16:7,103,998...7,200,362
JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:70,210,810...70,237,450
Ensembl chr 1:70,222,964...70,237,443
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
JBrowse link
G Prss2 protease, serine, 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 4:70,689,737...70,694,816
Ensembl chr 4:70,689,737...70,694,761
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27022031, PMID:23376645 RGD:12802341 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
G Rnf43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr10:74,956,411...75,028,951
Ensembl chr10:74,959,285...75,028,951
JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr11:11,062,866...12,618,793
Ensembl chr11:11,062,790...11,585,765
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sox17 SRY-box transcription factor 17 severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Tnc tenascin C severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635, PMID:22561520 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO RGD PMID:9230212 RGD:2325161 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Gstp1 glutathione S-transferase pi 1 IEP RGD PMID:22576464 RGD:10401932 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816485 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IEP RGD PMID:17102917 RGD:14995925 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 treatment IEP RGD PMID:17102917 RGD:14995925 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
JBrowse link
G Muc3 mucin 3, intestinal IEP mRNA:increased expression:bile duct RGD PMID:19032457 RGD:2325170 NCBI chr12:22,535,663...22,584,775 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 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:29158418 RGD:14700923 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO RGD PMID:30340822 RGD:15090860 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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 9:26,164,969...26,736,704 JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
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 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
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 chr14:59,610,939...59,619,786
Ensembl chr14:59,611,434...59,619,783
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:altered expression:liver (human) RGD PMID:12184527 RGD:21408573 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Sqle squalene epoxidase ISO RGD PMID:14684588 RGD:1581398 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:15062879 RGD:1581417 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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, PMID:27593105, PMID:29087027 RGD:1598571, RGD:15090804, RGD:14402414, RGD:14402412 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP RGD PMID:11680581 RGD:1598589 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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, PMID:17009103, PMID:15057744, PMID:15057744, PMID:16037978 RGD:1598571, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598614 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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 chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
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 chr15:103,695,415...103,927,980
Ensembl chr15:103,696,557...103,927,592
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 IEP RGD PMID:16764892 RGD:1598662 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 IEP RGD PMID:16764892 RGD:1598662 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide IEP mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alb albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:61,382,351...61,387,359
Ensembl chr 5:61,382,351...61,387,358
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 treatment IEP RGD PMID:30223280 RGD:15045612 NCBI chr 4:123,516,553...123,564,067
Ensembl chr 4:123,516,788...123,557,501
JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:16,910,043...16,929,465
Ensembl chr 1:16,910,069...16,930,481
JBrowse link
G Apoc3 apolipoprotein C3 IEP RGD PMID:17201892 RGD:10054045 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arg1 arginase 1 IEP protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like IEP mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bex4 brain expressed, X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:16,873,642...16,889,100
Ensembl chr11:16,873,646...16,889,201
JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:50,326,447...50,861,161
Ensembl chr 4:50,326,442...50,860,756
JBrowse link
G Cat catalase IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:27989131, PMID:21339256 RGD:5130873 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Cd14 CD14 molecule IEP RGD PMID:22511970 RGD:7183752 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd44 CD44 molecule (Indian blood group) IEP protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cftr CF transmembrane conductance regulator IEP mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Clock clock circadian regulator IEP mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO
IEP
IDA
mRNA:increased expression:liver (mouse)
ClinVar Annotator: match by term: Cholestasis
mRNA:increased expression:liver (rat)
ClinVar PMID:25741868, PMID:30311386, PMID:22094456, PMID:22824087, PMID:21274875 RGD:8552675, RGD:8552776, RGD:8552699 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 7:99,142,431...99,183,540
Ensembl chr 7:99,142,450...99,181,783
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr12:11,641,500...11,677,818
Ensembl chr12:11,655,402...11,733,136
JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr12:11,053,888...11,082,742
Ensembl chr12:11,655,402...11,733,136
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 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:164,113,459...164,143,818
Ensembl chr 1:164,113,459...164,143,818
JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 6:64,165,913...64,170,122
Ensembl chr 6:64,165,913...64,170,151
JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr20:26,893,139...26,913,041
Ensembl chr20:26,893,016...26,913,016
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eng endoglin IEP protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:115,314,890...115,352,871
Ensembl chr14:115,314,890...115,352,562
JBrowse link
G F2rl3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr16:18,817,797...18,819,790
Ensembl chr16:18,814,622...18,819,833
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP RGD PMID:18802767 RGD:2307352 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ghr growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment IDA RGD PMID:25932098 RGD:14701043 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment IEP RGD PMID:23960717 RGD:10401941 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:17,198,957...17,208,456
Ensembl chr 9:17,198,957...17,209,220
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr16:7,720,047...7,758,119
Ensembl chr16:7,714,465...7,758,189
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:200,785,492...200,808,868
Ensembl chr 2:200,778,122...200,808,857
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:261,291,742...261,319,743
Ensembl chr 1:261,291,870...261,318,984
JBrowse link
G Hp haptoglobin IEP mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:16,692,557...16,695,126
Ensembl chr17:16,692,557...16,695,126
JBrowse link
G Igf1 insulin-like growth factor 1 IEP
ISO
CTD Direct Evidence: therapeutic CTD PMID:12826230, PMID:18607346 RGD:10046052 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1a interleukin 1 alpha IEP protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 IEP RGD PMID:20031157 RGD:2317270 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:243,201,073...243,398,531
Ensembl chr 1:243,276,403...243,398,536
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
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 chr14:46,050,752...46,134,770
Ensembl chr14:46,050,750...46,054,022
JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Maob monoamine oxidase B IEP protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Mapk13 mitogen activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:6,018,374...6,027,467
Ensembl chr20:6,018,374...6,027,473
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:36,061,775...36,177,457
Ensembl chr17:36,061,775...36,177,457
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
JBrowse link
G Mir185 microRNA 185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:86,812,702...86,812,781
Ensembl chr11:86,812,702...86,812,781
JBrowse link
G Mir190 microRNA 190 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 8:73,030,047...73,030,131
Ensembl chr 8:73,030,047...73,030,131
JBrowse link
G Mir27b microRNA 27b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr17:823,461...823,557
Ensembl chr17:823,461...823,557
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,705,920...133,706,016
Ensembl chr 6:133,705,920...133,706,016
JBrowse link
G Mir361 microRNA 361 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:84,708,911...84,708,980
Ensembl chr  X:84,708,911...84,708,980
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,890,690...133,890,761
Ensembl chr 6:133,890,646...133,890,779
JBrowse link
G Mir411 microRNA 411 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,858,849...133,858,924
Ensembl chr 6:133,858,844...133,858,939
JBrowse link
G Mir875 microRNA 875 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7b microRNA let-7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:126,590,627...126,590,711
Ensembl chr 7:126,590,627...126,590,711
JBrowse link
G Mirlet7i microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:66,802,731...66,802,815
Ensembl chr 7:66,802,732...66,802,821
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:21274875 RGD:8552699 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:38,192,462...38,233,852
Ensembl chr14:38,192,446...38,233,852
JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:68,949,665...69,101,600
Ensembl chr13:68,949,665...69,101,588
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912, PMID:20626112 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
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 chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
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, PMID:30077711, PMID:29235094, PMID:12949728 RGD:15090804, RGD:15092071, RGD:15045612, RGD:15045597, RGD:15042872, RGD:14701031 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
JBrowse link
G Otc ornithine transcarbamylase IEP protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:2,717,021...2,736,541
Ensembl chr 7:2,718,700...2,736,157
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 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Pygm glycogen phosphorylase, muscle associated IDA mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:27,128,462...27,159,693
Ensembl chr18:27,128,464...27,159,693
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:64,196,103...64,202,380
Ensembl chr10:64,196,127...64,202,380
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpina5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:127,753,152...127,772,403
Ensembl chr 6:127,766,470...127,772,420
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 6:104,617,730...104,631,355
Ensembl chr 6:104,617,730...104,631,355
JBrowse link
G Slc10a7 solute carrier family 10, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr19:32,857,984...33,081,359
Ensembl chr19:32,855,343...33,080,998
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr18:28,413,910...28,428,133
Ensembl chr18:28,414,009...28,428,117
JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 3:124,632,491...124,842,225
Ensembl chr 3:124,632,492...124,724,252
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr11:71,533,078...71,547,476
Ensembl chr11:71,533,078...71,547,476
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
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 4:175,969,549...176,026,227
Ensembl chr 4:175,969,549...176,026,163
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 4:175,814,118...175,881,775
Ensembl chr 4:175,814,118...175,881,768
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:46,228,077...46,287,171 JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 2:211,078,092...211,156,312
Ensembl chr 2:211,078,334...211,156,312
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:33,447,583...33,453,788 JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:8707259 RGD:2290364 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tjp1 tight junction protein 1 IEP protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tmed7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:40,579,182...40,586,260
Ensembl chr18:40,579,182...40,586,260
JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:135,880,294...136,403,012
Ensembl chr 7:136,182,224...136,403,012
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:29867509 RGD:14694823 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chr 2:227,098,795...227,160,385
Ensembl chr 2:227,098,795...227,160,379
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr19:39,087,995...39,116,124
Ensembl chr19:39,087,990...39,116,125
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:81,689,802...81,717,623
Ensembl chr 9:81,689,802...81,717,621
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:97,859,730...97,896,949
Ensembl chr10:97,859,727...97,896,525
JBrowse link
G Xdh xanthine dehydrogenase IEP protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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:16453322, PMID:18054307, PMID:21623382, PMID:21937992, PMID:25525159, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by OMIM:216360
OMIM
ClinVar
PMID:18414213, PMID:18950740, PMID:19574260, PMID:19777577, PMID:22241855, PMID:22246503, PMID:25741868, PMID:26092869, PMID:27081510, PMID:27082236, PMID:28492532 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by OMIM:216360
OMIM
ClinVar
PMID:17558407, PMID:17558409, PMID:19430481, PMID:19574260, PMID:21866095, PMID:23188109, PMID:25741868, PMID:26092869, PMID:28492532, PMID:29991045 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
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 Annotator: match by OMIM:216360
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2929661, PMID:8862632, PMID:10508989, PMID:12368986, PMID:17160906, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28492532, PMID:28497568, PMID:28973083, PMID:30311386, PMID:19574260, PMID:19058225 RGD:11535946, RGD:11535944 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
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 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
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 OMIM:607765 OMIM
ClinVar
PMID:3470305, PMID:11067870, PMID:12679481 NCBI chr 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
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:20522910, PMID:21185810, PMID:25304492, PMID:25741868, PMID:28492532 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
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:19812052, PMID:28492532, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
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: Bile acid synthesis defect, congenital, 4 OMIM
ClinVar
PMID:9584266, PMID:10655068, PMID:12512044, PMID:15249642, PMID:18032455, PMID:20818383, PMID:20821052, PMID:21576695, PMID:25741868, PMID:28492532 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
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 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
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 chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 treatment IEP mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr15:103,695,415...103,927,980
Ensembl chr15:103,696,557...103,927,592
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Crh corticotropin releasing hormone IEP protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
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 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
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 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
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 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Gjb1 gap junction protein, beta 1 IEP mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP RGD PMID:7762611 RGD:7349397 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
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 chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Lgals1 galectin 1 IEP mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IMP RGD PMID:18466260 RGD:10449503 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Ptn pleiotrophin IEP mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase treatment IMP RGD PMID:24097032 RGD:9491846 NCBI chr 2:140,576,188...140,618,405
Ensembl chr 2:140,576,188...140,618,405
JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:increased expression:serum RGD PMID:10431747 RGD:6484593 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr20:20,576,341...20,591,510
Ensembl chr20:20,576,377...20,591,549
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 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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 2:68,820,616...68,895,537 JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:26925680 RGD:14700928 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
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 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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 chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658
JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
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 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
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 chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:26619011 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr16:54,240,892...54,386,131
Ensembl chr16:54,291,251...54,386,129
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, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23408298, PMID:23888070, PMID:24033266, PMID:24265155, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Tgfa transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
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, PMID:8401536, PMID:8633021, PMID:8825920, PMID:9049183, PMID:9290701, PMID:9546439, PMID:9632751, PMID:10616528, PMID:11370630, PMID:11793474, PMID:11896595, PMID:12007217, PMID:12509279, PMID:12726864, PMID:12826609, PMID:15607980, PMID:15607981, PMID:16209708, PMID:16312222, PMID:16401470, PMID:16633321, PMID:16778209, PMID:16861262, PMID:17311302, PMID:17530187, PMID:17606709, PMID:17875924, PMID:18511570, PMID:18555592, PMID:19462533, PMID:19556618, PMID:20128691, PMID:20407015, PMID:20516128, PMID:21343334, PMID:21761402, PMID:22006311, PMID:22114072, PMID:22233476, PMID:22427690, PMID:22540896, PMID:22887876, PMID:23031740, PMID:23259501, PMID:23263379, PMID:23713777, PMID:23792586, PMID:24573247, PMID:25433984, PMID:25584008, PMID:25741868, PMID:25927356, PMID:26014290, PMID:26024390, PMID:26230955, PMID:26497680, PMID:26585234, PMID:26619011, PMID:26911350, PMID:27189670, PMID:28279309, PMID:28369373, PMID:28477316, PMID:28492532, PMID:28724667, PMID:28861920, PMID:28975465, PMID:29416011, PMID:30297838, PMID:30720243, PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
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, PMID:16763017, PMID:16890614, PMID:17726488, PMID:18482588, PMID:19018976, PMID:19490418, PMID:19584064, PMID:19840255, PMID:21119540, PMID:22331132, PMID:23533021, PMID:24033266, PMID:24381502, PMID:24594635, PMID:24806754, PMID:24914347, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26474921, PMID:26699824, PMID:28776642, PMID:32581362, PMID:24914347 RGD:14694981 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
Gallbladder Disease 4 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 ClinVar Annotator: match by term: Gallbladder disease 4 OMIM
ClinVar
PMID:11893785, PMID:17632509, PMID:21039838, PMID:21274884, PMID:22898925, PMID:28492532 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16904648 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cckar cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25025063 NCBI chr14:59,610,939...59,619,786
Ensembl chr14:59,611,434...59,619,783
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Faslg Fas ligand disease_progression ISO protein:increased expression:gallbladder RGD PMID:15968727 RGD:2317739 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fscn1 fascin actin-bundling protein 1 severity ISO RGD PMID:19259612 RGD:2317784 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15118756 RGD:2317899 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:gallbladder RGD PMID:18798553 RGD:2317263 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18692501 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO protein:increased expression:gallbladder (human) RGD PMID:19956499 RGD:2317582 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:gallbladder RGD PMID:18665467 RGD:2325743 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO mRNA,protein:increased expression:gallbladder RGD PMID:10398137 RGD:2324857 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum RGD PMID:17542293 RGD:2325132 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO protein:increased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc4 mucin 4, cell surface associated ISO mRNA,protein:increased expression:gallbladder RGD PMID:18397823 RGD:2324921 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:SNP: :rs1495741(human) RGD PMID:20972438 RGD:11056814 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO protein:increased expression:epithelial cell RGD PMID:15100237 RGD:2326070 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
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 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility ISO DNA:polymorphism: : -509C>T (human) RGD PMID:18571008 RGD:2317641 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO RGD PMID:10427124 RGD:2325029 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509, PMID:24997986 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16965602 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
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 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631261 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21823526 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7461467 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 RGD:18936999 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19285991, PMID:19389488, PMID:19508421, PMID:20518024, PMID:20727375, PMID:21274865, PMID:22277166, PMID:22310368, PMID:23892085, PMID:24033266, PMID:24236502, PMID:24655110, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:26489029, PMID:27959697, PMID:28105683, PMID:28322498, PMID:28492532, PMID:28496993, PMID:29090881, PMID:31435670 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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, PMID:23934996, PMID:21193012 RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
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 chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
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 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
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, PMID:11167760, PMID:12899723, PMID:15071790, PMID:16037067, PMID:17327413, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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, PMID:8844207, PMID:9414314, PMID:9714702, PMID:11703334, PMID:19538529, PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
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 chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
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, PMID:15071791, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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 type 4
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
PMID:893429, PMID:1378323, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:7530501, PMID:7812009, PMID:8011524, PMID:8206915, PMID:8282779, PMID:8343110, PMID:8471774, PMID:8547122, PMID:8567957, PMID:8608262, PMID:8704215, PMID:9207478, PMID:9312167, PMID:9734643, PMID:9973643, PMID:10745622, PMID:10942416, PMID:11155072, PMID:11380459, PMID:16227998, PMID:19229254, PMID:21039340, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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, PMID:8528207, PMID:10406914, PMID:12176912, PMID:19508687, PMID:25741868, PMID:28492532 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Foxp3 forkhead box P3 IDA DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
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 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: : RGD PMID:22824796 RGD:14985256 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISS
ISO
DNA:mutations:: MouseDO PMID:24139215 RGD:14398746 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mir200b microRNA 200b ISO RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir221 microRNA 221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588
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 chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 susceptibility ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9806540, PMID:12370274, PMID:14672610, PMID:15791618, PMID:17855769, PMID:18049162, PMID:18395098, PMID:19101985, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:28492532, PMID:30311386, PMID:9806540, PMID:22619174 RGD:1598583, RGD:14688049 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO
ISS
ClinVar Annotator: match by term: Intrahepatic Cholestasis
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878
ClinVar
MouseDO
PMID:30311386, PMID:8106172, PMID:30935993, PMID:18781607 RGD:1300325, RGD:14695045, RGD:14695044 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr12:22,665,128...22,676,079
Ensembl chr12:22,665,112...22,676,075
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:18379143, PMID:9500542 RGD:1599397 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083, PMID:22094456 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis ClinVar PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
G Maf MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr10:109,802,877...109,811,476
Ensembl chr10:109,806,159...109,811,323
JBrowse link
G Mir27a microRNA 27a ISO mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr19:25,318,736...25,318,822
Ensembl chr19:25,318,736...25,318,822
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 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 IDA RGD PMID:15644430 RGD:1625202 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis of pregnancy
CTD
ClinVar
PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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 chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:15300568, PMID:16039748, PMID:16871584, PMID:17855769, PMID:18395098, PMID:19101985, PMID:20232290, PMID:20583290, PMID:23022423, PMID:23279303, PMID:23750872, PMID:24231640, PMID:24402531, PMID:24991443, PMID:25741868, PMID:27050426, PMID:27153395, PMID:28492532, PMID:32581362 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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, PMID:12891548, PMID:14999697, PMID:15077010, PMID:16696816, PMID:16763017, PMID:16890614, PMID:17726488, PMID:18083082, PMID:18482588, PMID:19018976, PMID:19490418, PMID:19584064, PMID:19840255, PMID:20849526, PMID:21119540, PMID:22331132, PMID:23022423, PMID:23217326, PMID:23533021, PMID:23820649, PMID:24033266, PMID:24381502, PMID:24806754, PMID:24914347, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26324191, PMID:26474921, PMID:26699824, PMID:26900700, PMID:28492532, PMID:28776642, PMID:32581362 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
Klatskin's tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
Mitchell-Riley Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Mitchell-Riley syndrome
ClinVar Annotator: match by OMIM:615710
OMIM
ClinVar
PMID:15592663, PMID:18414213, PMID:18512226, PMID:19887127, PMID:20148032, PMID:25741868, PMID:26264437, PMID:27523286, PMID:28492532 NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO DNA:deletion, nonsense mutation:exon:200_201delTT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12164927, PMID:15521008, PMID:16619213, PMID:15521008 RGD:11341732 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: North american indian childhood cirrhosis OMIM
ClinVar
PMID:12417987, PMID:22916032, PMID:24123366, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr19:39,087,995...39,116,124
Ensembl chr19:39,087,990...39,116,125
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Adm adrenomedullin IEP protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Alb albumin IEP RGD PMID:9161836 RGD:11036102 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:15573249 RGD:8549649 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cfh complement factor H IEP protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Hmbs hydroxymethylbilane synthase EXP Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Lbp lipopolysaccharide binding protein IEP mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
JBrowse link
G Pcna proliferating cell nuclear antigen treatment IEP RGD PMID:12917765 RGD:10448973 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Ucp2 uncoupling protein 2 IEP RGD PMID:19632092 RGD:7204429 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
opisthorchiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr3 actin related protein 3 ISO RGD PMID:25809205 RGD:11570559 NCBI chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658
JBrowse link
primary biliary cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD PMID:20040336, PMID:30682444, PMID:18671305 RGD:14694982 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD PMID:15542527, PMID:15770136 RGD:14700810 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 IEP mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Agt angiotensinogen IEP protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20451280 RGD:5148030 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD PMID:12126966, PMID:15770052 RGD:14995336 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 3:123,720,888...123,723,520
Ensembl chr 3:123,721,486...123,723,524
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr10:15,984,520...16,047,209
Ensembl chr10:15,987,921...16,046,033
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility
disease_progression
no_association
ISO autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:49A>G(human)
RGD PMID:10782900, PMID:16584111, PMID:21594562, PMID:17482523 RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Dag1 dystroglycan 1 IEP mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:56,015,813...56,242,041
Ensembl chr13:56,015,901...56,236,677
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15651265, PMID:15651265 RGD:9685530 NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790