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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:cholestasis
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Accession:DOID:13580 term browser browse the term
Definition:A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. (DO)
Synonyms:exact_synonym: Biliary Stases;   bile duct obstruction;   bile duct obstructions;   bile occlusion;   biliary stasis;   cholestases;   obstruction of bile duct
 primary_id: MESH:D002779
 xref: ICD10CM:K83.1;   ICD9CM:576.2;   NCI:C83006
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 protein:decreased expression:liver
mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 More... RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571 NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO DNA:mutations: : RGD PMID:11680581 PMID:26324191 RGD:11565494 RGD:1598589 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 disease_progression
treatment
ISO protein:decreased expression:intestine:
mRNA,protein:decreased expression:intestine:
mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10869290 PMID:12702498 PMID:15057744 PMID:16037978 PMID:17009103 More... RGD:11081007 RGD:11081011 RGD:15090804 RGD:1598571 RGD:1598614 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18096675 PMID:22461449 PMID:23486593 RGD:11535162 RGD:2301060 NCBI chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646
JBrowse link
G ABCC4 ATP binding cassette subfamily C member 4 treatment ISO protein:altered expression:kidney, liver RGD PMID:15030973 PMID:30223280 RGD:15045612 RGD:2301085 NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505
JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr32:21,249,459...21,261,130
Ensembl chr32:21,249,739...21,265,048
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G ALB albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:54,566,883...54,579,773
Ensembl chr11:54,577,123...54,578,685
JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chr20:52,722...99,180
Ensembl chr20:61,349...99,160
JBrowse link
G ALDH8A1 aldehyde dehydrogenase 8 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:27,672,422...27,695,029
Ensembl chr 1:27,673,024...27,694,868
JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G ARG1 arginase 1 ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr21:36,254,235...36,323,915
Ensembl chr21:36,290,070...36,323,622
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BEX4 brain expressed X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:76,473,420...76,474,994 JBrowse link
G BLVRA biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647
JBrowse link
G BTG3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr31:14,079,228...14,117,347
Ensembl chr31:14,079,652...14,095,265
JBrowse link
G C3H4orf19 chromosome 3 C4orf19 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 3:74,570,092...74,656,732
Ensembl chr 3:74,570,708...74,572,454
JBrowse link
G CADPS2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:60,109,253...60,465,982
Ensembl chr14:60,107,538...60,556,817
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21339256 PMID:27989131 RGD:5130873 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CD44 CD44 molecule ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
JBrowse link
G CFHR5 complement factor H related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:5,723,819...5,752,881
Ensembl chr 7:5,724,129...5,752,816
JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G CLOCK clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr13:47,684,409...47,825,733
Ensembl chr13:47,691,709...47,758,784
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
JBrowse link
G CNR2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO mRNA:increased expression:liver (mouse)
mRNA:increased expression:liver (rat)
RGD PMID:21274875 PMID:22094456 PMID:22824087 RGD:8552675 RGD:8552699 RGD:8552776 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G CP ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G CYP2B6 cytochrome P450 2B11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293
JBrowse link
G CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9797378 PMID:22461449 PMID:29655695 RGD:15090803 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846
JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr21:22,833,659...22,850,300
Ensembl chr21:22,834,518...22,851,260
JBrowse link
G DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:48,879,963...48,885,616
Ensembl chr14:48,879,914...48,884,361
JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:19,096,656...19,147,722
Ensembl chr 4:19,096,656...19,147,655
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G ENG endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr10:54,815,592...54,845,776
Ensembl chr10:54,815,638...54,845,080
JBrowse link
G F2RL3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr20:45,738,587...45,740,564
Ensembl chr20:45,738,587...45,740,473
JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GHR growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473
JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G GTPBP2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:12,073,233...12,082,630
Ensembl chr12:12,074,264...12,080,937
JBrowse link
G HAO2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:56,505,463...56,529,441
Ensembl chr17:56,505,506...56,528,954
JBrowse link
G HJV hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:58,792,647...58,797,504
Ensembl chr17:58,793,247...58,797,373
JBrowse link
G HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr28:10,849,037...10,872,238
Ensembl chr28:10,849,046...10,871,853
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr24:21,094,339...21,096,276
Ensembl chr24:21,094,755...21,096,276
JBrowse link
G ID4 inhibitor of DNA binding 4, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr35:18,358,518...18,360,767
Ensembl chr35:18,357,826...18,359,011
Ensembl chr35:18,357,826...18,359,011
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:12826230 PMID:18607346 RGD:10046052 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:89,446,340...89,618,716
Ensembl chr 1:89,480,399...89,618,143
JBrowse link
G KMT2B lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr 1:116,894,024...116,913,464
Ensembl chr 1:116,893,074...116,913,472
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:92,405,946...92,444,527
Ensembl chr  X:92,407,950...92,444,765
JBrowse link
G LOC608697 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr23:27,069,676...27,188,247 JBrowse link
G LY96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117
JBrowse link
G MAOB monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955
JBrowse link
G MAPK13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr12:5,239,783...5,248,197
Ensembl chr12:5,239,750...5,248,196
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
JBrowse link
G MBOAT1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr35:18,721,582...18,837,155
Ensembl chr35:18,713,654...18,836,142
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
JBrowse link
G MIR185 microRNA mir-185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr26:29,296,014...29,296,069
Ensembl chr26:29,296,004...29,296,079
JBrowse link
G MIR190A microRNA mir-190a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr30:27,433,122...27,433,206
Ensembl chr30:27,433,122...27,433,206
JBrowse link
G MIR218-1 microRNA mir-218-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 PMID:30125006 NCBI chr 3:89,044,709...89,044,772
Ensembl chr 3:89,044,699...89,044,782
JBrowse link
G MIR24-1 microRNA mir-24-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:71,677,608...71,677,669
Ensembl chr 1:71,677,608...71,677,669
JBrowse link
G MIR27B microRNA mir-27b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:71,678,117...71,678,179
Ensembl chr 1:71,678,105...71,678,191
JBrowse link
G MIR361 microRNA mir-361 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:66,698,698...66,698,760
Ensembl chr  X:66,698,698...66,698,760
JBrowse link
G MIR377 microRNA mir-377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 8:69,290,937...69,291,005 JBrowse link
G MIR99A-1 microRNA mir-99a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr31:13,258,782...13,258,840
Ensembl chr31:13,258,782...13,258,840
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NFXL1 nuclear transcription factor, X-box binding like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr13:43,743,271...43,814,899
Ensembl chr13:43,744,181...43,814,520
JBrowse link
G NIBAN1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:18,021,782...18,234,759
Ensembl chr 7:18,024,578...18,235,236
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912 PMID:20626112 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22461449 PMID:28337145 RGD:13439750 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr 9:22,461,556...22,469,243
Ensembl chr 9:22,461,705...22,469,053
JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 1:106,332,691...106,339,168
Ensembl chr 1:106,332,798...106,339,135
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
severity
ISO mRNA:increased expression:ileum (rat)
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
mRNA, protein:altered expression:liver (rat)
mutant FXR-/- mouse
RGD
CTD
PMID:12949728 PMID:22461449 PMID:23178280 PMID:27090119 PMID:29235094 More... RGD:14701031 RGD:15042872 RGD:15045597 RGD:15045612 RGD:15090804 RGD:15092071 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr38:21,252,874...21,257,951
Ensembl chr38:21,253,089...21,258,827
JBrowse link
G OTC ornithine transcarbamylase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr10:621,286...636,899
Ensembl chr10:621,281...634,495
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDYN prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464
JBrowse link
G RDX radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811
JBrowse link
G REEP5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 3:6,733...25,840
Ensembl chr 3:8,236...25,824
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G RFLNB refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:45,232,910...45,239,569
Ensembl chr 9:45,232,975...45,239,130
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
JBrowse link
G SERPINA5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:63,567,060...63,577,015
Ensembl chr 8:63,566,356...63,576,308
JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SLC10A1 solute carrier family 10 member 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 PMID:29655695 RGD:15090803 RGD:15090804 NCBI chr 8:43,521,291...43,546,426
Ensembl chr 8:43,521,747...43,546,274
JBrowse link
G SLC10A7 solute carrier family 10 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr15:44,718,085...44,957,787
Ensembl chr15:44,720,629...44,957,495
JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:57,845,865...57,859,827
Ensembl chr  X:57,845,488...57,857,518
JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 2:34,694,064...34,708,498
Ensembl chr 2:34,698,838...34,708,412
JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr24:16,573,616...16,709,296
Ensembl chr24:16,574,168...16,709,296
JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540
JBrowse link
G SLC51A solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738
JBrowse link
G SLC51B solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr30:29,425,489...29,436,204
Ensembl chr30:29,425,860...29,436,073
JBrowse link
G SLCO1A2 solute carrier organic anion transporter family member 1A2 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chr27:26,279,654...26,398,000
Ensembl chr27:26,279,547...26,425,818
JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr27:26,411,008...26,496,174
Ensembl chr27:26,411,010...26,470,989
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628
JBrowse link
G SORL1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:12,493,750...12,650,530
Ensembl chr 5:12,431,377...12,650,784
JBrowse link
G SORT1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 6:42,454,091...42,521,251
Ensembl chr 6:42,453,942...42,516,740
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763
JBrowse link
G SRP72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr13:48,688,295...48,717,826
Ensembl chr13:48,688,295...48,717,824
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr 1:107,705,568...107,721,160
Ensembl chr 1:107,705,576...107,720,876
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TJP1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574
JBrowse link
G TLR2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TMED7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr11:5,342,265...5,356,828
Ensembl chr11:5,342,265...5,356,828
JBrowse link
G TMEM117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr27:9,782,805...10,246,635
Ensembl chr27:9,782,805...10,235,028
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr23:29,645,755...29,658,587
Ensembl chr23:29,645,966...29,659,019
JBrowse link
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chr32:38,148,120...38,213,370
Ensembl chr32:38,163,790...38,211,181
JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VIL1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:15,115,098...15,147,893
Ensembl chr 9:15,115,315...15,149,147
JBrowse link
G XDH xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO OMIM NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G MKKS MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr24:11,887,504...11,914,055
Ensembl chr24:11,898,236...11,913,740
JBrowse link
G NOTCH2 notch receptor 2 ISO OMIM NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G SLX4IP SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr24:11,702,955...11,886,664
Ensembl chr24:11,706,776...11,772,030
JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr24:12,003,005...12,081,385
Ensembl chr24:12,004,117...12,081,329
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO OMIM NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO OMIM NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G B9D2 B9 domain containing 2 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CD14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761
JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr26:28,301,455...28,315,029 JBrowse link
G GLI2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:
RGD PMID:10726686 PMID:30059753 RGD:14695528 RGD:14695529 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:liver RGD PMID:27817193 PMID:28355202 RGD:24922206 RGD:25671379 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G PTEN phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SHH sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More... NCBI chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:21068128 More... NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 More... NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar
CTD
RGD
PMID:2929661 PMID:8862632 PMID:9536098 PMID:12368986 PMID:17160906 More... RGD:11535944 RGD:11535946 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM67 transmembrane protein 67 ISO OMIM NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO OMIM NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGRIP1L RPGRIP1 like ISO OMIM NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
JBrowse link
congenital bile acid synthesis defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar NCBI chr16:1,499,251...1,583,965 JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO OMIM NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO OMIM NCBI chr16:1,499,251...1,583,965 JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO OMIM NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase ISO OMIM NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD3 ATP binding cassette subfamily D member 3 ISO OMIM NCBI chr 6:54,740,704...54,816,854
Ensembl chr 6:54,742,111...54,817,235
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO OMIM NCBI chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734
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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ABCC4 ATP binding cassette subfamily C member 4 treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 PMID:31932644 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:4,191,114...4,201,438
Ensembl chr 9:4,184,959...4,200,164
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 chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO mRNA:decreased expression:liver, nucleus (rat)
mRNA:decreased expression:liver (rat)
RGD PMID:28660384 PMID:29360226 RGD:14995480 RGD:21203516 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310
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 chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
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 chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
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 chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496
JBrowse link
G LGALS1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
JBrowse link
G MAPK9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:1,443,528...1,480,501
Ensembl chr11:1,443,547...1,478,119
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:30026087 PMID:31900718 RGD:21201303 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression
treatment
ISO protein:increased expression:liver (rat)
mRNA:increased expression:liver (rat)
human gene in mouse model
RGD PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226 RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr16:11,283,078...11,382,820
Ensembl chr16:11,283,077...11,382,814
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G SETD7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chr19:3,186,620...3,229,305
Ensembl chr19:3,186,906...3,224,113
JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:49,268,978...49,296,522 JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO OMIM NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome ClinVar PMID:25741868 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 severity ISO DNA:mutation: :
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:mutation:exon:p.E924X(mouse)
DNA:deletion mutation:exon:
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:deletion:cds:
RGD
ClinVar
PMID:8640229 PMID:9054656 PMID:14671619 PMID:19179303 PMID:21193012 More... RGD:11041609 RGD:11251674 RGD:11251675 RGD:11251676 RGD:11251680 RGD:11251681 RGD:1578350 NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive RGD
ClinVar
PMID:1558976 RGD:1598910 NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutation:cds:p.G771D (human)
DNA:duplication:cds: (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
CTD
ClinVar
RGD
PMID:1378323 PMID:8282779 PMID:8547122 PMID:9207478 PMID:9326249 RGD:10450491 RGD:10450506 RGD:10450510 RGD:1599007 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
RGD
ClinVar
PMID:8941647 PMID:11920196 PMID:15384986 PMID:24033266 PMID:25741868 More... RGD:11059521 RGD:11059522 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G SPTB spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 RGD:11059526 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO OMIM NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic ISO OMIM NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
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 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO OMIM NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB42 erythrocyte membrane protein band 4.2 ISO OMIM NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9806540 PMID:18049162 PMID:22619174 RGD:14688049 RGD:1598583 NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment ISO DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human) RGD PMID:8106172 PMID:18781607 PMID:30935993 RGD:1300325 RGD:14695044 RGD:14695045 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr 6:8,705,294...8,711,285
Ensembl chr 6:8,705,647...8,711,190
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 susceptibility ISO DNA:mutation
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9500542 PMID:18379143 RGD:1599397 NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CBAS1, OMIM:607765 RGD PMID:12679481 RGD:1599971 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114
JBrowse link
G MAF MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
JBrowse link
G MAFG MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr 9:368,102...373,825
Ensembl chr 9:372,216...372,797
JBrowse link
G MIR27A microRNA mir-27a ISO mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr20:48,620,556...48,620,615
Ensembl chr20:48,620,556...48,620,615
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 2:73,234,482...73,236,548
Ensembl chr 2:73,234,586...73,236,206
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:49,268,978...49,296,522 JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435
JBrowse link
G TJP2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
G HDAC3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
intrahepatic cholestasis of pregnancy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UTP4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: North american indian childhood cirrhosis ClinVar PMID:12417987 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 More... NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr38:2,878,677...2,956,226 JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G IRF5 interferon regulatory factor 5 ISO mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795
JBrowse link
G LOC485869 lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr24:26,810,369...26,833,515
Ensembl chr24:26,809,843...26,833,434
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UNC45A unc-45 myosin chaperone A ISO OMIM NCBI chr 3:53,294,628...53,307,759
Ensembl chr 3:53,295,197...53,309,067
JBrowse link
primary biliary cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD
RGD
PMID:18671305 PMID:20040336 PMID:30682444 RGD:14694982 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD
RGD
PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD
RGD
PMID:12126966 PMID:15770052 RGD:14995336 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G CD3D CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750
JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CDH5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:82,830,505...82,863,931
Ensembl chr 5:82,830,939...82,863,882
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CENPB centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr24:17,569,440...17,572,311
Ensembl chr24:17,569,663...17,572,127
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221
JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 4:38,604,065...38,665,200
Ensembl chr 4:38,607,948...38,664,821
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
disease_progression
no_association
ISO autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNP:CDS:49A>G(human)
RGD PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562 RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762
JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:4,191,114...4,201,438
Ensembl chr 9:4,184,959...4,200,164
JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G DENND1B DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 7:5,008,249...5,267,392
Ensembl chr 7:4,999,430...5,262,630
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15651265 RGD:9685530 NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:50,777,422...50,783,853
Ensembl chr20:50,777,467...50,783,787
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr16:1,037,169...1,040,996
Ensembl chr16:1,037,162...1,167,094
JBrowse link
G IL10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL12A interleukin 12A susceptibility
treatment
ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs62270414(human)
RGD
CTD
PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility ISO RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr20:44,885,410...44,908,139
Ensembl chr20:44,885,337...44,904,538
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300
JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496
JBrowse link
G KRT18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368
JBrowse link
G KRT7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr27:2,812,709...2,827,451 JBrowse link
G LBR lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606
JBrowse link
G LEP leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LEPR leptin receptor ISO protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819
JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MIR223 microRNA mir-223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911
JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr18:45,416,347...45,438,226 JBrowse link
G MYBPC2 myosin binding protein C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 1:106,294,360...106,301,700
Ensembl chr 1:106,266,817...106,301,686
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21903766 PMID:30026087 RGD:5509055 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
JBrowse link
G NSA2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:57,304,160...57,311,836 JBrowse link
G NUP62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:106,636,282...106,661,250 JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr 9:34,387,084...34,590,603
Ensembl chr 9:34,387,091...34,425,292
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617
JBrowse link
G SLC51A solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738
JBrowse link
G SLC51B solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr30:29,425,489...29,436,204
Ensembl chr30:29,425,860...29,436,073
JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr27:26,497,639...26,553,790
Ensembl chr27:26,498,292...26,553,314
JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes:multiple
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNP: intron: (rs7574865) (human)
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
CTD
RGD
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 RGD:25671415 RGD:25671416 RGD:25671421 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TLR9 toll like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human)
mRNA:increased expression:liver
RGD PMID:9047083 PMID:17158635 RGD:14995307 RGD:38501106 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216
JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr35:26,426,919...26,436,189 JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :
RGD PMID:15683428 PMID:19376604 RGD:14401750 RGD:14402024 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:
RGD PMID:26615570 PMID:26627607 RGD:11528851 RGD:11538286 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
progressive familial intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:15300568 PMID:16039748 More... NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
CTD
ClinVar
PMID:12891548 PMID:17726488 PMID:18482588 PMID:19584064 PMID:20422496 More... NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 ClinVar PMID:21633855 PMID:26888176 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 disease_progression ISO DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)
OMIM
RGD
PMID:20447715 PMID:23758865 RGD:14402418 RGD:14688048 NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2 ClinVar PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3 ClinVar PMID:16641580 PMID:18395098 PMID:22364601 PMID:25741868 PMID:27114171 NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO OMIM NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
JBrowse link
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 NCBI chr32:38,148,120...38,213,370
Ensembl chr32:38,163,790...38,211,181
JBrowse link
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO OMIM NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
Progressive Familial Intrahepatic Cholestasis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC51A solute carrier family 51 subunit alpha ISO OMIM NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO OMIM NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13846
    disease of anatomical entity 13505
      gastrointestinal system disease 5494
        biliary tract disease 440
          bile duct disease 407
            cholestasis 303
              ARC syndrome + 2
              Aagenaes syndrome 0
              COACH syndrome + 4
              Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
              Cholesterol Pneumonia 0
              GRACILE syndrome 1
              Hardikar Syndrome 1
              Lutz Richner Landolt Syndrome 0
              Mirizzi Syndrome 0
              Osteootohepatoenteric Syndrome 1
              biliary atresia + 17
              congenital bile acid synthesis defect + 7
              extrahepatic cholestasis 50
              intrahepatic cholestasis + 121
              obstructive jaundice + 23
Path 2
Term Annotations click to browse term
  disease 13846
    disease of anatomical entity 13505
      gastrointestinal system disease 5494
        hepatobiliary disease 2402
          biliary tract disease 440
            bile duct disease 407
              cholestasis 303
                ARC syndrome + 2
                Aagenaes syndrome 0
                COACH syndrome + 4
                Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
                Cholesterol Pneumonia 0
                GRACILE syndrome 1
                Hardikar Syndrome 1
                Lutz Richner Landolt Syndrome 0
                Mirizzi Syndrome 0
                Osteootohepatoenteric Syndrome 1
                biliary atresia + 17
                congenital bile acid synthesis defect + 7
                extrahepatic cholestasis 50
                intrahepatic cholestasis + 121
                obstructive jaundice + 23
paths to the root