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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:bile duct disease
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Accession:DOID:4138 term browser browse the term
Definition:Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT.
Synonyms:exact_synonym: bile duct diseases;   bile duct disorder;   disorder of bile duct
 primary_id: MESH:D001649;   RDO:0004991
 xref: NCI:C96716
For additional species annotation, visit the Alliance of Genome Resources.


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bile duct disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor IEP mRNA:increased expression:liver RGD PMID:21037076 RGD:11341737 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G FECH ferrochelatase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10464147 NCBI chr18:57,544,377...57,586,708
Ensembl chr18:57,544,389...57,586,702
Ensembl chr18:57,544,389...57,586,702
JBrowse link
G MAGEE1 MAGE family member E1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30515189 NCBI chr  X:76,427,710...76,431,342
Ensembl chr  X:76,427,710...76,431,342
JBrowse link
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 IAGP ClinVar Annotator: match by term: Acalculous cholecystitis ClinVar PMID:17726488, PMID:18482588, PMID:19584064, PMID:23533021, PMID:25741868, PMID:25807286 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 TAS
IAGP
EXP
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar Annotator: match by term: Arteriohepatic dysplasia
CTD Direct Evidence: marker/mechanism
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 chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G MIR6870 microRNA 6870 IAGP ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr20:10,649,636...10,649,695
Ensembl chr20:10,649,636...10,649,695
JBrowse link
G MKKS McKusick-Kaufman syndrome IAGP ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,420,546...10,420,737
Ensembl chr20:10,420,546...10,420,737
JBrowse link
G NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: Alagille syndrome 2 ClinVar
OMIM
PMID:16773578, PMID:24728327, PMID:25016221, PMID:25741868, PMID:16773578 RGD:1580762 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G SLX4IP SLX4 interacting protein IAGP ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr20:10,435,136...10,628,138
Ensembl chr20:10,435,305...10,636,829
JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr20:10,218,830...10,307,420
Ensembl chr20:10,218,830...10,307,418
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP
EXP
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID: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 chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC027097.1 novel transcript, antisense to ATP8B1 IAGP ClinVar Annotator: match by term: Cholestasis, benign recurrent intrahepatic 1 ClinVar PMID:7894490, PMID:15239083 NCBI chr18:57,630,331...57,669,283
Ensembl chr18:57,630,302...57,669,296
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP 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 chr18:57,646,426...57,803,822
Ensembl chr18:57,646,426...57,803,315
JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 OMIM
ClinVar
PMID: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 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
bile duct cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B susceptibility IAGP DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G TJP1 tight junction protein 1 IEP protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,865
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSLN mesothelin IEP protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase IEP mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G IL6 interleukin 6 disease_progression IEP protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase severity IEP protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:9869516 RGD:2317706 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MUC16 mucin 16, cell surface associated IEP protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression IEP
IDA
RGD PMID:8501910, PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G RUNX3 RUNX family transcription factor 3 IDA DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29707199 NCBI chr19:56,477,874...56,495,437
Ensembl chr19:56,477,250...56,504,362
JBrowse link
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G CD14 CD14 molecule disease_progression IEP mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,701
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IEP RGD PMID:14743499 RGD:1625622 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression IEP RGD PMID:29056230 RGD:14701039 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,556,007...24,628,987
Ensembl chr22:24,556,007...24,628,987
Ensembl chr22:24,556,007...24,628,987
JBrowse link
G GLI2 GLI family zinc finger 2 disease_progression IEP RGD PMID:25746691 RGD:12802349 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G HAMP hepcidin antimicrobial peptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility IAGP DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL18 interleukin 18 susceptibility IAGP
IEP
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:
RGD PMID:30059753, PMID:10726686 RGD:14695528, RGD:14695529 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G MIR145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:liver RGD PMID:28355202, PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G PTEN phosphatase and tensin homolog IEP mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G SHH sonic hedgehog signaling molecule disease_progression IEP RGD PMID:25746691 RGD:12802349 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SOX17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 disease_progression IEP mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr15:40,844,043...40,858,207
Ensembl chr15:40,844,018...40,858,207
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 IEP mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615
JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:15845635 RGD:1581370 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment IEP RGD PMID:30686515 RGD:14985228 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:6,499,632...6,563,420
Ensembl chr 8:6,499,651...6,563,409
Ensembl chr 8:6,499,651...6,563,409
JBrowse link
G TTC26 tetratricopeptide repeat domain 26 IAGP ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G WDR19 WD repeat domain 19 IAGP associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility IAGP DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ADRB2 adrenoceptor beta 2 IEP protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G ALB albumin disease_progression IEP
IDA
RGD PMID:20431764, PMID:10776430, PMID:17545000 RGD:2325679, RGD:2325682, RGD:2325680 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ANXA2 annexin A2 disease_progression IEP RGD PMID:20493868 RGD:2325728 NCBI chr15:60,347,151...60,398,025
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G ANXA8 annexin A8 IEP RGD PMID:19376120 RGD:2325733 NCBI chr10:47,467,993...47,991,879
Ensembl chr10:47,460,162...47,484,158
JBrowse link
G APC APC regulator of WNT signaling pathway IDA
IAGP
DNA:hypermethylation:promoter
DNA:loss of heterozygosity
RGD PMID:15467712, PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G APOA1 apolipoprotein A1 IEP protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ASPH aspartate beta-hydroxylase IDA RGD PMID:21898484 RGD:6902945 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509, PMID:25231345 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A onset IEP protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
JBrowse link
G CYCS cytochrome c, somatic IDA RGD PMID:19788692 RGD:2317615 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G FASLG Fas ligand IDA RGD PMID:11029528 RGD:2317746 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FGF2 fibroblast growth factor 2 IEP protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G GNAS GNAS complex locus disease_progression IAGP
EXP
DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22561520, PMID:17356712 RGD:1601377 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:24049014 RGD:14700980 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment IDA
IMP
DNA:hypermethylation:promoter
human cell line in a mouse model
RGD PMID:15467712, PMID:12805482 RGD:2317198, RGD:14401711 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HDAC6 histone deacetylase 6 IEP protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HGF hepatocyte growth factor ISO
IEP
mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151, PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,504
Ensembl chr15:90,083,045...90,102,504
JBrowse link
G IL4R interleukin 4 receptor IEP mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr16:27,313,668...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G IL6 interleukin 6 IEP
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:17621267, PMID:15011822, PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KMT2C lysine methyltransferase 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:152,134,925...152,436,642
Ensembl chr 7:152,134,922...152,436,003
Ensembl chr 7:152,134,922...152,436,003
JBrowse link
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8968066, PMID:22561520 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G KRT7 keratin 7 IEP RGD PMID:18393293 RGD:2317308 NCBI chr12:52,233,243...52,252,667
Ensembl chr12:52,232,520...52,252,186
JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,850,686
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression IEP
ISO
protein:increased phosphorylation:liver, carcinoma (human)
protein:increased expression:liver, biliary epithelium (rat)
RGD PMID:16818635, PMID:14656942 RGD:2317578, RGD:2317601 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:12903495 RGD:2317705 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO
IEP
protein:increased expression:bile duct RGD PMID:15213623, PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP
ISO
mRNA:increased expression:bile duct
protein:increased expression:bile duct
RGD PMID:16463672, PMID:15213623, PMID:15213623 RGD:2325856, RGD:2324667, RGD:2324667 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MSLN mesothelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP
ISO
mRNA:increased expression:bile duct
protein:increased expression:bile duct:
protein:increased expression:serum
protein:increased secretion:bile
RGD PMID:19639217, PMID:18081149, PMID:15213623, PMID:19260467, PMID:19055478 RGD:2317986, RGD:2324638, RGD:2324667, RGD:2324664, RGD:2324622 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC16 mucin 16, cell surface associated IEP associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G MUC3A mucin 3A, cell surface associated IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347
JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP
ISO
protein:increased expression:bile duct RGD PMID:14752841, PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression IEP protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:14508831, PMID:11680592 RGD:2324990, RGD:2324948 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming IEP protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
JBrowse link
G NAT2 N-acetyltransferase 2 IAGP DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:18,386,585...18,401,219
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NCAM1 neural cell adhesion molecule 1 IEP associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G NOS2 nitric oxide synthase 2 IEP
EXP
protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:16094703 RGD:2325280 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOTCH1 notch receptor 1 IEP protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase disease_progression IAGP DNA:loss of heterozygosity (human) RGD PMID:11866974, PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PAWR pro-apoptotic WT1 regulator IEP mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:79,584,879...79,691,097
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G PBRM1 polybromo 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
JBrowse link
G PEG3 paternally expressed 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr19:56,810,082...56,840,726
Ensembl chr19:56,810,077...56,840,728
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G PRSS2 serine protease 2 IEP protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:27022031, PMID:23376645 RGD:12802341 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
EXP
protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:19621664 RGD:2317180 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G REG1A regenerating family member 1 alpha susceptibility IEP mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
JBrowse link
G RNF43 ring finger protein 43 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr17:58,352,500...58,418,894
Ensembl chr17:58,353,676...58,417,595
Ensembl chr17:58,353,676...58,417,595
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G ROBO2 roundabout guidance receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
JBrowse link
G RUNX3 RUNX family transcription factor 3 IEP protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,871,394...17,895,175
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression IEP
ISO
protein:increased expression:pancreas RGD PMID:16083599, PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G THBS1 thrombospondin 1 disease_progression IEP
IDA
DNA:hypermethylation (human) RGD PMID:16465407, PMID:11927969, PMID:12213730 RGD:2325024, RGD:2325027, RGD:2325026 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
JBrowse link
G TP53 tumor protein p53 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:16818635, PMID:22561520 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 IEP RGD PMID:9230212 RGD:2325161 NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300
JBrowse link
Cholangiofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40LG CD40 ligand treatment ISO RGD PMID:23820408 RGD:11352285 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO RGD PMID:22576464 RGD:10401932 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 severity IAGP associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) RGD PMID:31121195 RGD:14974230 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8698195 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816485 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:17102917 RGD:14995925 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 treatment ISO RGD PMID:17102917 RGD:14995925 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G EGR1 early growth response 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G ITGB6 integrin subunit beta 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,200,313
JBrowse link
G KRT19 keratin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr17:41,523,617...41,528,308
Ensembl chr17:41,523,617...41,528,308
JBrowse link
G MUC3A mucin 3A, cell surface associated ISO mRNA:increased expression:bile duct RGD PMID:19032457 RGD:2325170 NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IEP mRNA:increased expression:cd4-positive helper T cells (human) RGD PMID:30690835 RGD:14975104 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:29158418 RGD:14700923 NCBI chr 6:51,614,685...52,087,625
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr  X:47,582,408...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO RGD PMID:30340822 RGD:15090860 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G VDR vitamin D receptor IEP mRNA,protein:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IEA
ISS
OMIM:600803 MouseDO NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
Ensembl chr 7:30,911,853...30,925,517
JBrowse link
G CFTR CF transmembrane conductance regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin EXP
ISO
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD PMID:18988797, PMID:15830394 RGD:14700991 NCBI chr 6:51,614,685...52,087,625
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G SCT secretin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr11:626,095...627,692
Ensembl chr11:626,309...627,181
JBrowse link
G SLC4A2 solute carrier family 4 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
choledocholithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPG asparaginase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr14:104,085,658...104,115,582
Ensembl chr14:104,085,686...104,115,582
JBrowse link
cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 treatment
susceptibility
ISO
EXP
mRNA:altered expression:liver (rat)
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:11179459, PMID:22461449, PMID:24713091, PMID:12702498, PMID:27090119, PMID:27593105, PMID:29087027 RGD:1598571, RGD:15090804, RGD:14402414, RGD:14402412 NCBI chr 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO
IAGP
ISS
DNA:mutations: : MouseDO PMID:11680581, PMID:26324191 RGD:1598589, RGD:11565494 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment
disease_progression
ISO
EXP
IEP
mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:intestine:
mRNA,protein:decreased expression:intestine:
CTD PMID:10869290, PMID:17681005, PMID:22521610, PMID:16037978, PMID:27090119, PMID:17009103, PMID:15057744, PMID:15057744, PMID:12702498 RGD:1598614, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598571 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO
EXP
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:22461449, PMID:18096675, PMID:23486593 RGD:2301060, RGD:11535162 NCBI chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253
JBrowse link
G ABCC4 ATP binding cassette subfamily C member 4 treatment ISO protein:altered expression:kidney, liver RGD PMID:15030973, PMID:30223280 RGD:2301085, RGD:15045612 NCBI chr13:95,019,835...95,301,451
Ensembl chr13:95,019,835...95,301,475
JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 2:43,806,154...43,838,840
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 2:43,831,942...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801
JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G ALB albumin IEP RGD PMID:6431134 RGD:11035297 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:38,392,702...38,398,665
Ensembl chr 9:38,392,702...38,398,661
JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chr 3:126,103,565...126,197,758
Ensembl chr 3:126,103,562...126,197,994
JBrowse link
G ALDH8A1 aldehyde dehydrogenase 8 family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:134,917,393...134,950,101
Ensembl chr 6:134,917,393...134,950,115
JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E IEP associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ARG1 arginase 1 ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr11:13,276,552...13,387,268
Ensembl chr11:13,276,652...13,387,266
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:24,810,024...24,949,101
Ensembl chr12:24,810,024...24,949,101
JBrowse link
G BEX4 brain expressed X-linked 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:103,215,092...103,217,246
Ensembl chr  X:103,215,108...103,217,246
JBrowse link
G BLVRA biliverdin reductase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342
JBrowse link
G BTG3 BTG anti-proliferation factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr21:17,593,653...17,612,940
Ensembl chr21:17,593,653...17,612,947
Ensembl chr21:17,593,653...17,612,947
JBrowse link
G C4orf19 chromosome 4 open reading frame 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:37,453,454...37,596,146
Ensembl chr 4:37,453,925...37,623,495
JBrowse link
G CADPS2 calcium dependent secretion activator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:122,318,411...122,886,500
Ensembl chr 7:122,318,411...122,886,759
JBrowse link
G CAT catalase ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:27989131, PMID:21339256 RGD:5130873 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL7 C-C motif chemokine ligand 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,701
JBrowse link
G CD44 CD44 molecule (Indian blood group) ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr11:35,139,168...35,232,402
Ensembl chr11:35,138,882...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CFHR5 complement factor H related 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:196,975,022...197,009,725
Ensembl chr 1:196,977,556...197,009,678
Ensembl chr 1:196,977,556...197,009,678
JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CLOCK clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 4:55,427,903...55,547,138
Ensembl chr 4:55,427,903...55,546,909
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO
IAGP
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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G CP ceruloplasmin IEP protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr 3:149,162,410...149,222,008
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:9797378, PMID:22461449, PMID:29655695 RGD:15090803 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898
JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:75,768,778...75,801,534
Ensembl chr11:75,759,512...75,801,535
JBrowse link
G DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:108,569,874...108,574,850
Ensembl chr 7:108,569,867...108,574,850
JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr10:67,796,665...67,838,188
Ensembl chr10:67,796,669...67,838,188
JBrowse link
G EGR1 early growth response 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G ENG endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 2:53,787,017...53,834,524
Ensembl chr 2:53,787,044...53,818,819
JBrowse link
G F2RL3 F2R like thrombin or trypsin receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr19:16,888,999...16,892,606
Ensembl chr19:16,888,999...16,892,606
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868, PMID:30311386 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G FGA fibrinogen alpha chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GHR growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GSTM1 glutathione S-transferase mu 1 treatment ISO RGD PMID:25932098 RGD:14701043 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G GTPBP2 GTP binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:43,620,492...43,631,309
Ensembl chr 6:43,605,316...43,629,264
JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 3:15,560,699...15,601,569
Ensembl chr 3:15,560,699...15,601,852
JBrowse link
G HAO2 hydroxyacid oxidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:119,361,913...119,394,130
Ensembl chr 1:119,368,779...119,394,130
JBrowse link
G HJV hemojuvelin BMP co-receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746
JBrowse link
G HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:97,584,389...97,612,802
Ensembl chr10:97,584,323...97,612,802
JBrowse link
G HP haptoglobin ISO mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr16:30,985,189...30,989,152
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,605,283...31,606,515
JBrowse link
G ID4 inhibitor of DNA binding 4, HLH protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:19,837,370...19,842,197
Ensembl chr 6:19,837,370...19,842,197
JBrowse link
G IGF1 insulin like growth factor 1 ISO
EXP
CTD Direct Evidence: therapeutic CTD PMID:12826230, PMID:18607346 RGD:10046052 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:470,295...746,104
Ensembl chr 9:470,291...746,106
JBrowse link
G KMT2B lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr19:35,717,818...35,738,878
Ensembl chr19:35,717,973...35,738,878
Ensembl chr19:35,717,973...35,738,878
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365
Ensembl chr  X:120,426,148...120,469,365
JBrowse link
G LY96 lymphocyte antigen 96 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:73,991,275...74,099,807
Ensembl chr 8:73,991,392...74,029,079
JBrowse link
G MAOB monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:43,766,610...43,882,450
Ensembl chr  X:43,766,610...43,882,450
JBrowse link
G MAPK13 mitogen-activated protein kinase 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 6:36,130,513...36,144,521
Ensembl chr 6:36,127,809...36,144,524
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 6:36,027,711...36,122,964
Ensembl chr 6:36,027,677...36,111,236
JBrowse link
G MBOAT1 membrane bound O-acyltransferase domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:20,099,684...20,212,469
Ensembl chr 6:20,099,684...20,212,469
JBrowse link
G MIR130B microRNA 130b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385
JBrowse link
G MIR143 microRNA 143 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
JBrowse link
G MIR185 microRNA 185 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr22:20,033,139...20,033,220
Ensembl chr22:20,033,139...20,033,220
JBrowse link
G MIR190A microRNA 190a EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:62,823,957...62,824,041
Ensembl chr15:62,823,957...62,824,041
JBrowse link
G MIR218-1 microRNA 218-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424, PMID:30125006 NCBI chr 4:20,528,275...20,528,384
Ensembl chr 4:20,528,275...20,528,384
JBrowse link
G MIR24-1 microRNA 24-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 9:95,086,021...95,086,088
Ensembl chr 9:95,086,021...95,086,088
JBrowse link
G MIR27B microRNA 27b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 9:95,085,445...95,085,541
Ensembl chr 9:95,085,445...95,085,541
JBrowse link
G MIR337 microRNA 337 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:100,874,493...100,874,585
Ensembl chr14:100,874,493...100,874,585
JBrowse link
G MIR361 microRNA 361 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:85,903,636...85,903,707
Ensembl chr  X:85,903,636...85,903,707
JBrowse link
G MIR377 microRNA 377 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:101,062,050...101,062,118
Ensembl chr14:101,062,050...101,062,118
JBrowse link
G MIR411 microRNA 411 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:101,023,325...101,023,420
Ensembl chr14:101,023,325...101,023,420
JBrowse link
G MIR875 microRNA 875 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 8:99,536,786...99,536,861
Ensembl chr 8:99,536,786...99,536,861
JBrowse link
G MIR99A microRNA 99a EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr21:16,539,089...16,539,169
Ensembl chr21:16,539,089...16,539,169
JBrowse link
G MIRLET7B microRNA let-7b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr22:46,113,686...46,113,768
Ensembl chr22:46,113,686...46,113,768
JBrowse link
G MIRLET7I microRNA let-7i EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:62,603,686...62,603,769
Ensembl chr12:62,603,686...62,603,769
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 EXP CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NFXL1 nuclear transcription factor, X-box binding like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:47,847,233...47,914,667
Ensembl chr 4:47,847,233...47,914,667
JBrowse link
G NIBAN1 niban apoptosis regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:184,791,032...184,974,508
Ensembl chr 1:184,790,724...184,974,508
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12612912, PMID:20626112 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPL N-acetylneuraminate pyruvate lyase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:182,789,773...182,830,384
Ensembl chr 1:182,789,293...182,830,384
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:22461449, PMID:28337145 RGD:13439750 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589
JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 EXP CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 EXP CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
severity
EXP
ISO
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)
mRNA, protein:altered expression:liver (rat)
mutant FXR-/- mouse
CTD 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 chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,485
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 1:161,229,666...161,238,623
Ensembl chr 1:161,229,666...161,238,302
Ensembl chr 1:161,229,666...161,238,302
JBrowse link
G OTC ornithine carbamoyltransferase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:38,352,528...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr12:56,316,223...56,334,000
Ensembl chr12:56,316,223...56,334,053
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDYN prodynorphin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chr 5:40,759,379...40,798,195
Ensembl chr 5:40,759,379...40,798,374
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
JBrowse link
G RDX radixin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712
JBrowse link
G REEP5 receptor accessory protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:112,876,385...112,922,289
Ensembl chr 5:112,876,385...112,922,289
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G RFLNB refilin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:439,978...445,940
Ensembl chr17:439,978...445,939
JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SERPINA5 serpin family A member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:94,581,426...94,593,118
Ensembl chr14:94,561,442...94,593,118
JBrowse link
G SERPINE1 serpin family E member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SLC10A1 solute carrier family 10 member 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:29655695, PMID:27090119 RGD:15090803, RGD:15090804 NCBI chr14:69,775,416...69,797,241
Ensembl chr14:69,775,416...69,797,241
JBrowse link
G SLC10A7 solute carrier family 10 member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:146,253,981...146,522,351
Ensembl chr 4:146,253,975...146,521,964
JBrowse link
G SLC16A2 solute carrier family 16 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
JBrowse link
G SLC23A1 solute carrier family 23 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 5:139,367,196...139,384,553
Ensembl chr 5:139,367,196...139,384,553
JBrowse link
G SLC23A2 solute carrier family 23 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr20:4,852,358...5,010,313
Ensembl chr20:4,852,356...5,010,293
JBrowse link
G SLC30A10 solute carrier family 30 member 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:219,910,395...219,959,098
Ensembl chr 1:219,685,427...219,958,647
JBrowse link
G SLC51A solute carrier family 51 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178
JBrowse link
G SLC51B solute carrier family 51 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397
JBrowse link
G SLCO1A2 solute carrier organic anion transporter family member 1A2 treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
CTD
RGD
PMID:22461449, PMID:27090119 RGD:15090804 NCBI chr12:21,264,600...21,403,663
Ensembl chr12:21,264,600...21,419,594
JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911
JBrowse link
G SNAI1 snail family transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
JBrowse link
G SORL1 sortilin related receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763
JBrowse link
G SORT1 sortilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 1:109,309,575...109,397,940
Ensembl chr 1:109,309,568...109,397,918
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr15:40,844,043...40,858,207
Ensembl chr15:40,844,018...40,858,207
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615
JBrowse link
G SRP72 signal recognition particle 72 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:56,467,617...56,503,681
Ensembl chr 4:56,467,617...56,503,681
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,075...48,599,425
Ensembl chr19:48,552,075...48,599,425
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chr  X:47,582,408...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TJP1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,865
JBrowse link
G TLR2 toll like receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TMED7 transmembrane p24 trafficking protein 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:115,613,210...115,626,036
Ensembl chr 5:115,613,210...115,632,992
JBrowse link
G TMEM117 transmembrane protein 117 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr12:43,795,763...44,389,758
Ensembl chr12:43,835,967...44,389,762
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,678,498
Ensembl chr 3:132,654,446...132,678,498
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:29867509 RGD:14694823 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
G USP53 ubiquitin specific peptidase 53 IAGP ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chr 4:119,212,612...119,295,518
Ensembl chr 4:119,212,587...119,295,517
JBrowse link
G UTP4 UTP4 small subunit processome component IAGP North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr16:69,132,630...69,169,024
Ensembl chr16:69,131,291...69,231,130
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VIL1 villin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:218,419,123...218,453,295
Ensembl chr 2:218,419,121...218,453,295
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:68,421,281...68,457,496
Ensembl chr17:68,420,948...68,457,513
JBrowse link
G XDH xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
chronic cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO RGD PMID:17852852 RGD:14694983 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar
OMIM
PMID:18414213, PMID:18950740, PMID:19574260, PMID:19777577, PMID:22241855, PMID:22246503, PMID:25741868, PMID:26092869, PMID:27081510, PMID:27082236, PMID:28492532 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar
OMIM
PMID:17558407, PMID:17558409, PMID:19430481, PMID:19574260, PMID:21866095, PMID:23188109, PMID:25741868, PMID:26092869, PMID:28492532, PMID:29991045 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TMEM67 transmembrane protein 67 IAGP DNA:missense mutations: :multiple
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
ClinVar
OMIM
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:19058225, PMID:19574260 RGD:11535944, RGD:11535946 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B IEP protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G FSCN1 fascin actin-bundling protein 1 IEP mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G MSLN mesothelin IEP protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTAP methylthioadenosine phosphorylase IEP DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC4 mucin 4, cell surface associated IEP protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:10760693 RGD:2325158 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
congenital bile acid synthesis defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 1 ClinVar
OMIM
PMID:3470305, PMID:11067870, PMID:12679481 NCBI chr16:30,985,189...30,989,152
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 4 ClinVar PMID:24614073, PMID:25741868, PMID:25921221 NCBI chr 9:69,121,006...69,255,208
Ensembl chr 9:69,121,264...69,274,615
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP
EXP
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 2
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8707100, PMID:12970144, PMID:15030995, PMID:20522910, PMID:21185810, PMID:25304492, PMID:25741868, PMID:28492532 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP 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 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase IAGP 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 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4 ClinVar PMID:9584266, PMID:10655068, PMID:12512044, PMID:15249642, PMID:18032455, PMID:20818383, PMID:20821052, PMID:21576695, PMID:25741868, PMID:28492532 NCBI chr 5:33,986,986...34,124,528
Ensembl chr 5:33,987,174...34,124,528
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD3 ATP binding cassette subfamily D member 3 IAGP ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 ClinVar
OMIM
PMID:25168382 NCBI chr 1:94,418,086...94,518,663
Ensembl chr 1:94,418,389...94,518,666
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 IAGP ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 6 ClinVar
OMIM
PMID:25741868, PMID:27647924, PMID:27884763 NCBI chr 3:58,505,136...58,537,196
Ensembl chr 3:58,505,136...58,537,283
JBrowse link
extrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) RGD PMID:28660384 RGD:21203516 NCBI chr 9:104,781,006...104,928,232
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ABCC4 ATP binding cassette subfamily C member 4 treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr13:95,019,835...95,301,451
Ensembl chr13:95,019,835...95,301,475
JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G CYGB cytoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:76,527,356...76,557,692
Ensembl chr17:76,527,356...76,551,175
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO mRNA:decreased expression:liver (rat)
mRNA:decreased expression:liver, nucleus (rat)
RGD PMID:29360226, PMID:28660384 RGD:14995480, RGD:21203516 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HMGB1 high mobility group box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HNF1A HNF1 homeobox A ISO mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) RGD PMID:15723437 RGD:14700989 NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,780,791...58,784,047
JBrowse link
G KEAP1 kelch like ECH associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G LGALS1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680
Ensembl chr22:21,754,500...21,867,680
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:36,027,711...36,122,964
Ensembl chr 6:36,027,677...36,111,236
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MAPK9 mitogen-activated protein kinase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:180,233,143...180,292,083
Ensembl chr 5:180,233,143...180,292,099
JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MPO myeloperoxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:30026087, PMID:31900718 RGD:21201303 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
disease_progression
ISO
IMP
mRNA:increased expression:liver (rat)
protein:increased expression:liver (rat)
human gene in mouse model
RGD PMID:14623915, PMID:29360226, PMID:29138817, PMID:22057115 RGD:1625205, RGD:14995480, RGD:15042871, RGD:14928333 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G SETD7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chr 4:139,492,974...139,556,219
Ensembl chr 4:139,495,941...139,606,699
JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 6:160,121,808...160,160,590
Ensembl chr 6:160,121,815...160,158,718
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:47,582,408...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TLR4 toll like receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
fascioliasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSB cathepsin B ISO protein:decreased activity:liver (rat) RGD PMID:19696938 RGD:2315504 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,448
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:serum RGD PMID:10431747 RGD:6484593 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP ClinVar Annotator: match by term: GRACILE syndrome ClinVar
OMIM
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 2:218,659,683...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868, PMID:32313153 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 severity IAGP
ISO
ClinVar Annotator: match by term: 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 chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,762
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
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 chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP
EXP
DNA:duplication:cds: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
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)
CTD
ClinVar
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr17:44,248,390...44,268,161
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP
ISO
DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr 1:158,610,498...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G SPTB spectrin beta, erythrocytic IEP
IAGP
EXP
mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds,splice junction:
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532, PMID:19538529, PMID:19538529 RGD:11059526, RGD:11059526 NCBI chr14:64,744,106...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,442...124,749,273
Ensembl chr 3:124,730,433...124,749,273
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 2:70,656,784...70,768,200
Ensembl chr 2:70,607,618...70,768,225
JBrowse link
G ANK1 ankyrin 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 1
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar
OMIM
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 chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,762
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr 1:158,610,498...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic IAGP ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin s-ta barbara
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 chr14:64,744,106...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar
OMIM
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 chr 1:158,610,498...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Spherocytosis type 4 ClinVar
OMIM
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 chr17:44,248,390...44,268,161
Ensembl chr17:44,248,390...44,268,141
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB42 erythrocyte membrane protein band 4.2 IAGP ClinVar Annotator: match by term: Spherocytosis type 5 ClinVar
OMIM
PMID:1558976, PMID:2386772, PMID:7772513, PMID:7803799, PMID:8319790, PMID:8528207, PMID:10406914, PMID:12176912, PMID:19508687, PMID:25741868, PMID:28492532 NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
JBrowse link
intrahepatic cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Intrahepatic Cholangiocarcinoma ClinVar PMID:24728327, PMID:25479140, PMID:25741868, PMID:26530882, PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression IEP RGD PMID:30849962 RGD:14974231 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G BECN1 beclin 1 disease_progression IEP RGD PMID:30849962 RGD:14974231 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase severity IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G FAS Fas cell surface death receptor disease_progression IEP RGD PMID:11003620 RGD:14700701 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FASLG Fas ligand severity IEP RGD PMID:11003620 RGD:14700701 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 no_association IAGP DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression IAGP DNA:mutations: : RGD PMID:22824796 RGD:14985256 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,504
Ensembl chr15:90,083,045...90,102,504
JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISS
IAGP
DNA:mutations:: MouseDO PMID:24139215 RGD:14398746 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MIR152 microRNA 152 IEP miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MIR200B microRNA 200b IEP RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MIR221 microRNA 221 severity IEP RGD PMID:27685844 RGD:14928335 NCBI chr  X:45,746,157...45,746,266
Ensembl chr  X:45,746,157...45,746,266
JBrowse link
G SMAD4 SMAD family member 4 disease_progression IEP mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866, PMID:23981608 RGD:18936999, RGD:21066336 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 susceptibility IAGP
ISO
EXP
ClinVar Annotator: match by term: 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 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment ISO
IAGP
IDA
ISS
ClinVar Annotator: match by term: 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 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G AP1S1 adaptor related protein complex 1 subunit sigma 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 susceptibility IAGP
EXP
DNA:mutation
CTD Direct Evidence: marker/mechanism
CTD PMID:18379143, PMID:9500542 RGD:1599397 NCBI chr18:57,646,426...57,803,822
Ensembl chr18:57,646,426...57,803,315
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 ISO mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G EGR1 early growth response 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18364083, PMID:22094456 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr10:95,710,901...95,877,266
Ensembl chr10:95,711,779...95,877,266
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Intrahepatic Cholestasis ClinVar PMID:30311386 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP CBAS1, OMIM:607765 RGD PMID:12679481 RGD:1599971 NCBI chr16:30,985,189...30,989,152
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G MAF MAF bZIP transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G MAFG MAF bZIP transcription factor G EXP CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr17:81,918,270...81,927,735
Ensembl chr17:81,918,270...81,927,735
JBrowse link
G MIR27A microRNA 27a ISO mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr19:13,836,440...13,836,517
Ensembl chr19:13,836,440...13,836,517
JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 ISO mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chr 1:26,911,489...26,914,110
Ensembl chr 1:26,911,489...26,913,975
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 6:160,121,808...160,160,590
Ensembl chr 6:160,121,815...160,158,718
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
JBrowse link
G TJP2 tight junction protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 9:69,121,006...69,255,208
Ensembl chr 9:69,121,264...69,274,615
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G AC027097.1 novel transcript, antisense to ATP8B1 IAGP ClinVar Annotator: match by term: Cholestasis of pregnancy ClinVar PMID:15888793 NCBI chr18:57,630,331...57,669,283
Ensembl chr18:57,630,302...57,669,296
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 EXP
IAGP
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 chr18:57,646,426...57,803,822
Ensembl chr18:57,646,426...57,803,315
JBrowse link
G HDAC3 histone deacetylase 3 severity IEP RGD PMID:28697498 RGD:14696655 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G IL18 interleukin 18 severity IEP RGD PMID:28697498 RGD:14696655 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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 IAGP OMIM NCBI chr18:57,646,426...57,803,822
Ensembl chr18:57,646,426...57,803,315
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 IAGP 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 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar
OMIM
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 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
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 IAGP ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN1 claudin 1 IAGP DNA:deletion, nonsense mutation:exon:200_201delTT(human)
ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
OMIM
ClinVar
PMID:12164927, PMID:15521008, PMID:16619213, PMID:15521008 RGD:11341732 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
JBrowse link
G CLDN16 claudin 16 IAGP ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
Ensembl chr 3:190,322,541...190,412,138
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 IAGP ClinVar Annotator: match by term: North american indian childhood cirrhosis ClinVar
OMIM
PMID:12417987, PMID:22916032, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr16:69,132,630...69,169,024
Ensembl chr16:69,131,291...69,231,130
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,701
JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:196,652,033...196,747,504
Ensembl chr 1:196,652,043...196,747,504
Ensembl chr 1:196,652,043...196,747,504
JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,549
JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr11:73,974,671...73,983,202
Ensembl chr11:73,974,672...73,983,246
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 IEP mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 9:104,781,006...104,928,232
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 disease_progression EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD PMID:20040336, PMID:30682444, PMID:18671305 RGD:14694982 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 EXP
ISO
CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD PMID:15542527, PMID:15770136 RGD:14700810 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACE2 angiotensin I converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:15,518,197...15,602,158
Ensembl chr  X:15,561,033...15,602,148
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G CCL5 C-C motif chemokine ligand 5 EXP
IEP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD PMID:12126966, PMID:15770052 RGD:14995336 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CD3D CD3d molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD80 CD80 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
JBrowse link
G CDH5 cadherin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr16:66,366,657...66,404,784
Ensembl chr16:66,366,622...66,404,784
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G CENPB centromere protein B IDA RGD PMID:8911074 RGD:27226708 NCBI chr20:3,783,851...3,786,740
Ensembl chr20:3,783,851...3,786,740
JBrowse link
G CLEC16A C-type lectin domain containing 16A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:10,944,539...11,193,272
Ensembl chr16:10,944,564...11,182,186
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861
JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 5:173,888,328...173,961,980
Ensembl chr 5:173,888,349...173,961,980
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
disease_progression
no_association
IAGP autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:49A>G(human)
RGD PMID:10782900, PMID:16584111, PMID:21594562, PMID:17482523 RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787
JBrowse link
G CYGB cytoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:76,527,356...76,557,692
Ensembl chr17:76,527,356...76,551,175
JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G DENND1B DENN domain containing 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 1:197,504,748...197,782,138
Ensembl chr 1:197,504,748...197,775,696
JBrowse link
G DNASE1 deoxyribonuclease 1 IEP protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr16:3,611,737...3,665,472
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:15651265, PMID:15651265 RGD:9685530 NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061
JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FOXP3 forkhead box P3 IEP mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G HAMP hepcidin antimicrobial peptide treatment IEP
ISO
mRNA:decreased expression:liver RGD PMID:19652645, PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr 4:144,646,154...144,745,271
Ensembl chr 4:144,646,156...144,745,271
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G ICAM3 intercellular adhesion molecule 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:10,333,776...10,339,624
Ensembl chr19:10,333,776...10,339,661
JBrowse link
G IFNG interferon gamma IEP mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
JBrowse link
G IL10 interleukin 10 IEP mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A susceptibility
treatment
EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNP: :rs62270414(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD PMID:20639880, PMID:19458352, PMID:23433321, PMID:27175695 RGD:25440500, RGD:25440498, RGD:25440489 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility IEP RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr19:18,058,994...18,099,027
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL7R interleukin 7 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,128,183
Ensembl chr 9:4,984,390...5,128,183
JBrowse link
G KEAP1 kelch like ECH associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G KRT18 keratin 18 severity IEP protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906
JBrowse link
G KRT7 keratin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr12:52,233,243...52,252,667
Ensembl chr12:52,232,520...52,252,186
JBrowse link
G LBR lamin B receptor IDA RGD PMID:8550049 RGD:9588625 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LEP leptin IEP protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor IEP protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LOX lysyl oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,360
JBrowse link
G LOXL2 lysyl oxidase like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328
JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr17:45,263,119...45,317,048
Ensembl chr17:45,263,119...45,317,029
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:36,027,711...36,122,964
Ensembl chr 6:36,027,677...36,111,236
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 6:159,890,988...159,917,447
Ensembl chr 6:159,890,988...159,917,447
Ensembl chr 6:159,890,988...159,917,447
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MIR21 microRNA 21 severity IEP RGD PMID:28886078 RGD:21408577 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MIR223 microRNA 223 severity IEP RGD PMID:28886078 RGD:21408577 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 1:2,590,639...2,633,042
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP RGD PMID:18507686 RGD:2324885 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:102,501,266...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NOS2 nitric oxide synthase 2 ISO
EXP
protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:30026087, PMID:21903766 RGD:5509055 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility IEP mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G NSA2 NSA2 ribosome biogenesis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:74,767,249...74,780,113
Ensembl chr 5:74,766,991...74,780,113
JBrowse link
G NUP62 nucleoporin 62 severity IDA RGD PMID:12753810 RGD:9831196 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,763
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
JBrowse link
G SLC4A2 solute carrier family 4 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
G SLC51A solute carrier family 51 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178
JBrowse link
G SLC51B solute carrier family 51 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397
JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr12:20,681,800...20,753,386
Ensembl chr12:20,695,332...20,753,386
Ensembl chr12:20,695,332...20,753,386
JBrowse link
G SOD2 superoxide dismutase 2 IEP protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPIB Spi-B transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr15:40,844,043...40,858,207
Ensembl chr15:40,844,018...40,858,207
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
EXP
IAGP
CTD Direct Evidence: marker/mechanism
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNPs, haplotypes:multiple
CTD PMID:21399635, PMID:26084578, PMID:28395724, PMID:24648611, PMID:24648611 RGD:25671421, RGD:25671416, RGD:25671415, RGD:25671415 NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR9 toll like receptor 9 IEP protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,226,163
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum (human)
mRNA:increased expression:liver
RGD PMID:9047083, PMID:17158635 RGD:14995307, RGD:38501106 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TYK2 tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr19:10,350,528...10,380,572
Ensembl chr19:10,350,529...10,380,572
JBrowse link
G UBD ubiquitin D EXP CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 6:29,555,515...29,559,732
Ensembl chr 6:29,555,515...29,559,732
JBrowse link
G UTP4 UTP4 small subunit processome component IAGP North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr16:69,132,630...69,169,024
Ensembl chr16:69,131,291...69,231,130
JBrowse link
G VDR vitamin D receptor susceptibility IEA
IAGP
DNA:polymorphism: :
DNA:SNP: :
GAD
RGD
PMID:15118671, PMID:15683428, PMID:19376604 RGD:1331525, RGD:14402024, RGD:14401750 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IEP
protein:increased expression:liver
protein:increased expression:plasma:
RGD PMID:26627607, PMID:26615570 RGD:11528851, RGD:11538286 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
primary sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISS OMIM:613806 MouseDO NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G CFTR CF transmembrane conductance regulator susceptibility IAGP associated with inflammatory bowel disease; DNA:misense mutations:multiple RGD PMID:12783301 RGD:25671445 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G DNASE1 deoxyribonuclease 1 IEP protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr16:3,611,737...3,665,472
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G GNRHR gonadotropin releasing hormone receptor IEP mRNA:increased expression:liver: RGD PMID:28502477 RGD:14928320 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,739,328...67,754,360
Ensembl chr 4:67,739,328...67,754,360
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 disease_progression IAGP RGD PMID:30487703 RGD:14865010 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G KRT18 keratin 18 severity IEP protein:increased degradation:serum (human) RGD PMID:26195313 RGD:18337492 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906
JBrowse link
G MIR155 microRNA 155 IEP miRNA:decreased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR200B microRNA 200b treatment IEP
ISO
RNA:increased expression:liver RGD PMID:28634212, PMID:28634212 RGD:14928323, RGD:14928323 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VDR vitamin D receptor IEP mRNA:decreased expression:liver RGD PMID:28146070 RGD:14401745 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
progressive familial intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:9806540, PMID:10579978, PMID:12370274, PMID:15300568, PMID:16039748, PMID:17855769, PMID:18395098, PMID:19101985, PMID:24991443, PMID:28492532, PMID:32581362 NCBI chr 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G AC027097.1 novel transcript, antisense to ATP8B1 IAGP ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:57,630,331...57,669,283
Ensembl chr18:57,630,302...57,669,296
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:57,646,426...57,803,822
Ensembl chr18:57,646,426...57,803,315
JBrowse link
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
CTD
ClinVar
PMID:12891548, PMID:17726488, PMID:18482588, PMID:19584064, PMID:21056966, PMID:23533021, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26900700, PMID:32581362 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G AC027097.1 novel transcript, antisense to ATP8B1 IAGP ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 ClinVar PMID:9500542, PMID:24260417, PMID:25741868, PMID:26126923, PMID:28492532 NCBI chr18:57,630,331...57,669,283
Ensembl chr18:57,630,302...57,669,296
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP ClinVar Annotator: match by term: Byler disease
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
OMIM
ClinVar
PMID:1774530, PMID:5762004, PMID:5807632, PMID:9500542, PMID:9918928, PMID:11093741, PMID:12149765, PMID:14976163, PMID:15239083, PMID:15317749, PMID:15657619, PMID:15888793, PMID:16374853, PMID:18937870, PMID:19479804, PMID:19731236, PMID:19918981, PMID:20232290, PMID:20852622, PMID:20981092, PMID:22995991, PMID:23060447, PMID:24033266, PMID:24260417, PMID:25737299, PMID:25741868, PMID:26126923, PMID:26594346, PMID:26756876, PMID:26879107, PMID:28045770, PMID:28492532 NCBI chr18:57,646,426...57,803,822
Ensembl chr18:57,646,426...57,803,315
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 IAGP ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 ClinVar PMID:21633855, PMID:26888176 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 disease_progression IAGP ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)
ClinVar
OMIM
PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:14672610, PMID:14999697, PMID:15077010, PMID:15300568, PMID:15791618, PMID:16039748, PMID:16763017, PMID:16871584, PMID:17855769, PMID:18395098, PMID:18692205, PMID:18798335, PMID:19101985, PMID:19571440, PMID:20010382, PMID:20232290, PMID:20583290, PMID:20799350, PMID:22795478, PMID:23022423, PMID:23279303, PMID:23684896, PMID:23750872, PMID:24115678, PMID:24231640, PMID:24402531, PMID:24627769, PMID:24969679, PMID:24991443, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:27050426, PMID:27153395, PMID:27368585, PMID:28492532, PMID:30311386, PMID:31319225, PMID:32581362, PMID:23758865, PMID:20447715 RGD:14688048, RGD:14402418 NCBI chr 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2 ClinVar PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr18:57,646,426...57,803,822
Ensembl chr18:57,646,426...57,803,315
JBrowse link
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP
EXP
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8666348, PMID:9419367, PMID:9923886, 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:22184139, 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:28552422, PMID:28776642, PMID:31319225, PMID:32581362 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 4 ClinVar
OMIM
PMID:24614073, PMID:25741868, PMID:25921221 NCBI chr 9:69,121,006...69,255,208
Ensembl chr 9:69,121,264...69,274,615
JBrowse link
G USP53 ubiquitin specific peptidase 53 IAGP ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 NCBI chr 4:119,212,612...119,295,518
Ensembl chr 4:119,212,587...119,295,517
JBrowse link
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR