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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 CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
protein:decreased expression:liver		 CTD
RGD		 PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 More... RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO DNA:mutations: : RGD
MouseDO		 PMID:11680581 PMID:26324191 RGD:11565494 RGD:1598589 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 disease_progression
treatment		 ISO mRNA,protein:decreased expression:intestine:
mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10869290 PMID:12702498 PMID:15057744 PMID:16037978 PMID:17009103 More... RGD:11081007 RGD:11081011 RGD:15090804 RGD:1598571 RGD:1598614 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO protein:increased expression:liver
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18096675 PMID:22461449 PMID:23486593 RGD:11535162 RGD:2301060 NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,978,363 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 8:121,266,794...121,282,313
Ensembl chr 8:121,266,764...121,282,310 		JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G ALB albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:239,109,814...239,114,736
Ensembl chr 1:239,109,809...239,114,730 		JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chr 7:53,748,585...53,794,777
Ensembl chr 7:53,748,653...53,794,706 		JBrowse link
G ALDH8A1 aldehyde dehydrogenase 8 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:29,060,682...29,083,815
Ensembl chr 1:29,060,701...29,083,143 		JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ARG1 arginase 1 ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...45,988,570 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,313...48,925,973 		JBrowse link
G BEX4 brain expressed X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:84,147,133...84,148,680
Ensembl chr  X:84,147,183...84,149,084 		JBrowse link
G BLVRA biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr18:51,131,576...51,185,493
Ensembl chr18:51,131,584...51,185,435 		JBrowse link
G BTG3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:182,209,850...182,228,626
Ensembl chr13:182,208,958...182,227,971 		JBrowse link
G C8H4orf19 chromosome 8 C4orf19 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:29,012,884...29,103,163
Ensembl chr 8:29,013,082...29,103,160 		JBrowse link
G CADPS2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:24,372,547...24,867,287
Ensembl chr18:24,372,544...24,867,482 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21339256 PMID:27989131 RGD:5130873 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CD14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581 		JBrowse link
G CD44 CD44 molecule ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
G CLOCK clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 8:54,793,323...54,910,192
Ensembl chr 8:54,793,342...54,877,777 		JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chr 6:81,659,162...81,692,550
Ensembl chr 6:81,659,169...81,692,550 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)		 RGD PMID:21274875 PMID:22094456 PMID:22824087 RGD:8552675 RGD:8552699 RGD:8552776 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G CP ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL2 chemokine (C-X-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192 		JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9797378 PMID:22461449 PMID:29655695 RGD:15090803 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,343,123...74,372,621 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,233...26,331,738 		JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:10,032,163...10,066,082
Ensembl chr 9:10,032,128...10,068,437 		JBrowse link
G DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:36,578,928...36,584,211
Ensembl chr18:36,579,453...36,584,130 		JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:71,005,326...71,050,397
Ensembl chr14:71,005,056...71,041,040 		JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 PMID:28492532 NCBI chr13:123,104,085...123,162,119
Ensembl chr13:123,104,101...123,176,086 		JBrowse link
G ENG endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 3:87,362,166...87,389,814
Ensembl chr 3:87,355,904...87,389,814 		JBrowse link
G F2RL3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 2:60,742,978...60,747,014
Ensembl chr 2:60,742,996...60,744,864 		JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GHR growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449 		JBrowse link
G GTPBP2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:38,598,763...38,613,217
Ensembl chr 7:38,603,474...38,613,647 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,514...2,840,902 		JBrowse link
G HAO2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:101,588,510...101,787,818
Ensembl chr 4:101,588,861...101,732,304 		JBrowse link
G HJV hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:99,327,989...99,332,647
Ensembl chr 4:99,328,053...99,332,645 		JBrowse link
G HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:108,958,812...108,986,373
Ensembl chr14:108,958,973...108,986,707 		JBrowse link
G HP haptoglobin ISO mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G ID1 inhibitor of DNA binding 1 ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr17:35,316,518...35,317,742
Ensembl chr17:35,316,514...35,317,736 		JBrowse link
G ID4 inhibitor of DNA binding 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:15,281,535...15,284,895
Ensembl chr 7:15,281,757...15,282,839 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:12826230 PMID:18607346 RGD:10046052 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G INVS inversin ISO RGD PMID:10421642 RGD:155791685 NCBI chr 1:241,897,685...242,058,293
Ensembl chr 1:241,897,764...242,059,050 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,078,245 		JBrowse link
G KMT2B lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr 6:45,146,863...45,166,854
Ensembl chr 6:45,147,566...45,166,852 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LOC100738425 multidrug resistance-associated protein 4 treatment ISO protein:altered expression:kidney, liver RGD PMID:15030973 PMID:30223280 RGD:15045612 RGD:2301085 NCBI chr11:64,861,069...64,996,684 JBrowse link
G LOC100739163 glutathione S-transferase P-like treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LY96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697 		JBrowse link
G MAOB monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:39,025,973...39,144,389
Ensembl chr  X:39,025,970...39,144,345 		JBrowse link
G MAPK13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 7:31,880,643...31,889,586
Ensembl chr 7:31,880,638...31,889,455 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031 		JBrowse link
G MBOAT1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:15,532,641...15,644,332
Ensembl chr 7:15,532,015...15,643,692 		JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817 		JBrowse link
G MIR185 microRNA mir-185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978 		JBrowse link
G MIR190A microRNA mir-190a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:109,225,385...109,225,466
Ensembl chr 1:109,225,386...109,225,470 		JBrowse link
G MIR218-1 microRNA mir-218-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 PMID:30125006 NCBI chr 8:15,047,602...15,047,685
Ensembl chr 8:15,047,602...15,047,685 		JBrowse link
G MIR27B microRNA mir-27b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr10:27,079,963...27,080,042
Ensembl chr10:27,079,954...27,080,056 		JBrowse link
G MIR361 microRNA mir-361 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:68,924,500...68,924,579
Ensembl chr  X:68,924,500...68,924,579 		JBrowse link
G MIR99A microRNA mir-99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567 		JBrowse link
G MIRLET7I microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 5:27,252,802...27,252,886
Ensembl chr 5:27,252,787...27,252,894 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NFXL1 nuclear transcription factor, X-box binding like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:37,812,378...37,875,582
Ensembl chr 8:37,812,911...37,875,540 		JBrowse link
G NIBAN1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:126,007,493...126,172,579
Ensembl chr 9:126,007,493...126,172,579 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912 PMID:20626112 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:15776426 PMID:22550138 PMID:25741868 PMID:28492532 PMID:28700940 NCBI chr 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22461449 PMID:28337145 RGD:13439750 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr12:22,263,549...22,274,131
Ensembl chr12:22,263,657...22,271,643 		JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 6:55,238,536...55,245,457
Ensembl chr 6:55,239,500...55,245,456 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
severity		 ISO mRNA, protein:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
mutant FXR-/- mouse
mRNA:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)		 RGD
CTD		 PMID:12949728 PMID:22461449 PMID:23178280 PMID:27090119 PMID:29235094 More... RGD:14701031 RGD:15042872 RGD:15045597 RGD:15045612 RGD:15090804 RGD:15092071 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,431 		JBrowse link
G OTC ornithine transcarbamylase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:21,712,222...21,730,528
Ensembl chr 5:21,712,261...21,727,903 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDYN prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chr16:25,745,902...25,783,524
Ensembl chr16:25,745,324...25,783,707 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254 		JBrowse link
G RDX radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097 		JBrowse link
G REEP5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 2:116,845,681...116,886,361
Ensembl chr 2:116,845,571...116,886,358 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G RFLNB refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:47,307,657...47,316,652
Ensembl chr12:47,307,637...47,314,589 		JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645 		JBrowse link
G SERPINA5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:115,799,414...115,810,825
Ensembl chr 7:115,802,150...115,810,824 		JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SLC10A1 solute carrier family 10 member 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 PMID:29655695 RGD:15090803 RGD:15090804 NCBI chr 7:93,400,037...93,421,989
Ensembl chr 7:93,397,608...93,421,985 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:59,748,685...59,861,018
Ensembl chr  X:59,748,745...59,861,015 		JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 2:141,258,318...141,277,555
Ensembl chr 2:141,258,323...141,276,442 		JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr17:13,848,726...14,012,054
Ensembl chr17:13,848,728...14,011,700 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:9,527,523...9,545,493 JBrowse link
G SLC51A solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753 		JBrowse link
G SLC51B SLC51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488 		JBrowse link
G SLCO1A2 solute carrier organic anion transporter family member 1A2 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chr 5:52,020,303...52,133,132
Ensembl chr 5:52,049,443...52,129,730 		JBrowse link
G SLCO1B2 solute carrier organic anion transporter family member 1B2 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr 5:52,137,454...52,206,236 JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499 		JBrowse link
G SORL1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655 		JBrowse link
G SORT1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 4:110,721,110...110,791,406
Ensembl chr 4:110,720,947...110,789,070 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559 		JBrowse link
G SRP72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:55,729,202...55,762,298
Ensembl chr 8:55,729,116...55,762,015 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TJP1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,370...145,195,836 		JBrowse link
G TLR2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TMED7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 2:119,794,608...119,804,406
Ensembl chr 2:119,788,483...119,804,463 		JBrowse link
G TMEM117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:74,917,081...75,402,839
Ensembl chr 5:74,917,463...75,406,367 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423 		JBrowse link
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 PMID:34608165 NCBI chr 8:104,500,204...104,560,711
Ensembl chr 8:104,500,252...104,560,513 		JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,132 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222 		JBrowse link
G VIL1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr15:120,463,470...120,494,772
Ensembl chr15:120,463,566...120,492,580 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716 		JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:11,715,332...11,752,009
Ensembl chr12:11,715,318...11,752,021 		JBrowse link
G XDH xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
Aagenaes 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 ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960 		JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKEF1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,958,165...18,979,703
Ensembl chr17:18,958,165...18,980,560 		JBrowse link
G HAO1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,746,153...16,802,460
Ensembl chr17:16,744,442...16,802,442 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia		 ClinVar PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G LAMP5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,434,106...18,452,689
Ensembl chr17:18,434,658...18,452,927 		JBrowse link
G MKKS MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,341,636...19,362,871 		JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 ClinVar PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G PAK5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,461,060...18,785,869
Ensembl chr17:18,461,062...18,785,313 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,915,984...18,402,540
Ensembl chr17:17,916,110...18,402,532 		JBrowse link
G SLX4IP SLX4 interacting protein ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,363,727...19,578,132 JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576 		JBrowse link
G TMX4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,834,869...16,881,328
Ensembl chr17:16,831,932...16,881,350 		JBrowse link
ALAGILLE SYNDROME 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKEF1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,958,165...18,979,703
Ensembl chr17:18,958,165...18,980,560 		JBrowse link
G HAO1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,746,153...16,802,460
Ensembl chr17:16,744,442...16,802,442 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 OMIM
ClinVar		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G LAMP5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,434,106...18,452,689
Ensembl chr17:18,434,658...18,452,927 		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 More... NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,341,636...19,362,871 		JBrowse link
G PAK5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,461,060...18,785,869
Ensembl chr17:18,461,062...18,785,313 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,915,984...18,402,540
Ensembl chr17:17,916,110...18,402,532 		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 More... NCBI chr17:19,363,727...19,578,132 JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576 		JBrowse link
G TMX4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,834,869...16,881,328
Ensembl chr17:16,831,932...16,881,350 		JBrowse link
ALAGILLE SYNDROME 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2 OMIM
ClinVar		 PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		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
OMIM:208085 | OMIM:613404		 CTD
MouseDO		 PMID:20190753 NCBI chr 7:100,482,953...100,510,164
Ensembl chr 7:100,482,956...100,506,161 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716 		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 FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:26715165 PMID:28492532 NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr 7:100,482,953...100,510,164
Ensembl chr 7:100,482,956...100,506,161 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar		 PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 More... NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM
ClinVar		 PMID:20190753 PMID:25741868 PMID:25741916 PMID:28492532 PMID:31479177 NCBI chr 7:100,482,953...100,510,164
Ensembl chr 7:100,482,956...100,506,161 		JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Summerskill syndrome OMIM
ClinVar		 PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 More... NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612 		JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 OMIM
ClinVar		 PMID:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 More... NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G CD14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654 		JBrowse link
G GLI2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IL18 interleukin 18 susceptibility ISO protein:increased expression:serum:
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)		 RGD PMID:10726686 PMID:30059753 RGD:14695528 RGD:14695529 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:liver RGD PMID:27817193 PMID:28355202 RGD:24922206 RGD:25671379 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G PTEN phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SHH sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO MouseDO NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		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 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: COACH syndrome ClinVar PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532 NCBI chr  X:10,361,403...10,415,502 JBrowse link
G TMEM67 transmembrane protein 67 ISO DNA:missense mutations: :multiple
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19058225 PMID:19574260 RGD:11535944 RGD:11535946 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121 		JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 More... NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,190 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome 1 ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 More... NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH syndrome 1 OMIM
ClinVar		 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 More... NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121 		JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome 2 OMIM
ClinVar		 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 More... NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,190 		JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome 3 OMIM
ClinVar		 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18565097 PMID:19430481 More... NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190 		JBrowse link
congenital bile acid synthesis defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect ClinVar NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,531,726 		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:25741868 PMID:28492532 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition OMIM
ClinVar		 PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 More... NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386 		JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 OMIM
ClinVar		 PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 More... NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,531,726 		JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 OMIM
ClinVar		 PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 More... NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 OMIM
ClinVar		 PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289 		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 chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 OMIM
ClinVar		 PMID:25168382 PMID:25741868 PMID:28492532 NCBI chr 4:122,847,925...122,929,454
Ensembl chr 4:122,847,927...122,953,257 		JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27647924 More... NCBI chr13:40,220,952...40,255,967
Ensembl chr13:40,223,010...40,255,967 		JBrowse link
extrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) RGD PMID:28660384 RGD:21203516 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121 		JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:4,977,245...4,988,283 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO mRNA:decreased expression:liver (rat)
mRNA:decreased expression:liver, nucleus (rat)		 RGD PMID:28660384 PMID:29360226 RGD:14995480 RGD:21203516 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,343,123...74,372,621 		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 chr13:26,330,233...26,331,738
Ensembl chr13:26,330,233...26,331,738 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554 		JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305 		JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HNF1A HNF1 homeobox A ISO mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) RGD PMID:15723437 RGD:14700989 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382 		JBrowse link
G LGALS1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,068...10,156,023 		JBrowse link
G LOC100738425 multidrug resistance-associated protein 4 treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr11:64,861,069...64,996,684 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874 		JBrowse link
G MAPK9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:78,338,466...78,399,108
Ensembl chr 2:78,338,376...78,399,100 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30026087 PMID:31900718 RGD:21201303 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression
treatment		 ISO human gene in mouse model
protein:increased expression:liver (rat)
mRNA:increased expression:liver (rat)		 RGD PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226 RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO mRNA:decreased expression:hypothalamus, hippocampus RGD PMID:25290008 RGD:401842371 NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G SETD7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chr 8:87,478,266...87,527,190
Ensembl chr 8:87,478,173...87,527,188 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 PMID:31932644 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		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 Annotator: match by term: Hardikar syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		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:deletion mutation:exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant		 RGD
ClinVar		 PMID:14671619 PMID:25741868 PMID:28492532 RGD:11251681 NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,779,055...10,985,191 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,955,997 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:28492532 NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:44,038,357...44,069,328 		JBrowse link
G KLF1 KLF transcription factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD
MouseDO		 PMID:20691777 RGD:10769342 NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517 		JBrowse link
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:36231035 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive		 ClinVar PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,718...88,954,306 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603 		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 ISO OMIM:182900 MouseDO NCBI chr 3:71,729,882...71,845,761
Ensembl chr 3:71,730,003...71,840,861 		JBrowse link
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive OMIM
ClinVar		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,779,055...10,985,191 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO OMIM:182900 MouseDO NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM:182900 MouseDO NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063 		JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr 7:88,764,476...88,810,996
Ensembl chr 7:88,764,471...88,810,994 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,718...88,954,306 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive OMIM
ClinVar		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063 		JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 ClinVar PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208 		JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 5 OMIM
ClinVar		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031 		JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 susceptibility ISO ClinVar Annotator: match by term: Progressive intrahepatic cholestasis RGD
ClinVar		 PMID:9806540 PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 More... RGD:1598583 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment ISO ClinVar Annotator: match by term: Progressive intrahepatic cholestasis RGD
ClinVar		 PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More... RGD:14695045 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis		 RGD
ClinVar		 PMID:5807632 PMID:9500542 PMID:9918928 PMID:14988830 PMID:15239083 More... RGD:1599397 NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612 		JBrowse link
G CXCL2 chemokine (C-X-C motif) ligand 2 ISO mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817 		JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CBAS1, OMIM:607765 RGD PMID:12679481 RGD:1599971 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386 		JBrowse link
G MAF MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030 		JBrowse link
G MAFG MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr12:1,069,074...1,078,081
Ensembl chr12:1,071,632...1,074,688 		JBrowse link
G MIR27A microRNA mir-27a ISO mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr 2:65,308,294...65,308,375
Ensembl chr 2:65,308,294...65,308,375 		JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 ISO mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chr 6:84,225,670...84,228,156
Ensembl chr 6:84,225,694...84,228,481 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146 		JBrowse link
G TJP2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983 		JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612 		JBrowse link
G HDAC3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399 		JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222 		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 ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 OMIM
ClinVar		 PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20981092 More... NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612 		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 chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 OMIM
ClinVar		 PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More... NCBI chr 9:93,171,371...93,262,124 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS50 VPS50 subunit of EARP/GARPII complex ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis OMIM
ClinVar		 PMID:25741909 PMID:34037727 NCBI chr 9:73,074,878...73,215,833
Ensembl chr 9:73,074,906...73,217,053 		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: Hereditary North American Indian childhood cirrhosis ClinVar PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More... NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,132 		JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866 		JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581 		JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952
G GPT glutamic--pyruvic transaminase ISO RGD PMID:9161836 RGD:11036102 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chr11:7,195,556...7,321,071 JBrowse link
G IRF5 interferon regulatory factor 5 ISO mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243 		JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,393,818...41,429,551 		JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744 		JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		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 ClinVar Annotator: match by term: Osteootohepatoenteric syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960 		JBrowse link
primary biliary cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment
disease_progression		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)		 CTD
RGD		 PMID:18671305 PMID:20040336 PMID:21209952 PMID:30682444 RGD:14694982 RGD:153297773 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver		 CTD
RGD		 PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		JBrowse link
G ABCG2A ATP binding cassette subfamily G member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:		 CTD
RGD		 PMID:12126966 PMID:15770052 RGD:14995336 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221 		JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976 		JBrowse link
G CDH5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,597...27,142,177 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G CENPB centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr17:31,929,846...31,932,539
Ensembl chr17:31,929,892...31,931,712 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732 		JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr16:50,430,345...50,499,086
Ensembl chr16:50,430,348...50,498,938 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association
susceptibility
disease_progression		 ISO DNA:SNP:CDS:49A>G(human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)		 RGD PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562 RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,143,117...46,146,636 		JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:4,977,245...4,988,283 JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G DENND1B DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:20,391,507...20,635,808
Ensembl chr10:20,395,481...20,635,748 		JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15651265 RGD:9685530
G FAS Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:20132096 RGD:329970291 NCBI chr 1:184,201,232...184,264,060
Ensembl chr 1:184,199,679...184,257,315 		JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305 		JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,739...83,679,136 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:69,143,063...69,150,221
Ensembl chr 2:69,143,062...69,150,225 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799 		JBrowse link
G IL10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL12A interleukin 12A susceptibility
treatment		 ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
DNA:SNP: :rs62270414(human)		 RGD
CTD		 PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility ISO RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282 		JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382 		JBrowse link
G KRT18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,221,429 		JBrowse link
G KRT7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,728...17,570,581 		JBrowse link
G LBR lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
G LEP leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LEPR leptin receptor ISO protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704 		JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr12:18,142,899...18,182,931
Ensembl chr12:18,142,952...18,182,928 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21903766 PMID:30026087 RGD:5509055 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20132096 PMID:30026087 RGD:329970291 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451 		JBrowse link
G NSA2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:83,843,893...83,851,232
Ensembl chr 2:83,843,898...83,852,212 		JBrowse link
G NUP62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 6:54,921,627...54,945,705
Ensembl chr 6:54,921,627...54,923,227 		JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,953 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr18:6,149,459...6,166,622
Ensembl chr18:6,149,459...6,165,212 		JBrowse link
G SLC51A solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753 		JBrowse link
G SLC51B SLC51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488 		JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 5:52,234,396...52,315,311
Ensembl chr 5:52,234,398...52,315,026 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SPIB Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 6:55,272,847...55,280,881
Ensembl chr 6:55,272,890...55,280,874 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility		 ISO DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes:multiple
DNA:SNP: intron: (rs7574865) (human)
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)		 RGD
CTD		 PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 RGD:25671415 RGD:25671416 RGD:25671421 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: Primary biliary cholangitis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983 		JBrowse link
G TLR9 toll like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human)
mRNA:increased expression:liver		 RGD PMID:9047083 PMID:17158635 RGD:14995307 RGD:38501106 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,811...69,183,456 		JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 7:22,501,130...22,502,883
Ensembl chr 7:22,501,130...22,503,094 		JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,132 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :
DNA:polymorphism: :		 RGD PMID:15683428 PMID:19376604 RGD:14401750 RGD:14402024 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:		 RGD PMID:26615570 PMID:26627607 RGD:11528851 RGD:11538286 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193 		JBrowse link
primary biliary cholangitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL12RB2 interleukin 12 receptor subunit beta 2 ISO ClinVar Annotator: match by term: IL12RB2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:145,210,251...145,292,399
Ensembl chr 6:145,212,981...145,281,791 		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:12717091 PMID:15300568 More... NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More... NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:5807632 PMID:9500542 PMID:9918928 PMID:14988830 PMID:15239083 More... NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612 		JBrowse link
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:12891548 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 More... NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease OMIM
ClinVar		 PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 More... NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO5B myosin VB ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 OMIM
ClinVar		 PMID:18724368 PMID:20186687 PMID:25741868 PMID:27532546 PMID:28027573 More... NCBI chr 1:99,418,242...99,810,934
Ensembl chr 1:99,418,449...99,810,139 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 OMIM
ClinVar		 PMID:34585848 NCBI chr 7:59,094,919...59,119,534
Ensembl chr 7:59,094,932...59,119,532 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 OMIM
ClinVar		 PMID:18853461 PMID:25741868 PMID:31479177 NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716 		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 ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
DNA:mutation:cds:p.D482G(human)
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 More... RGD:14402418 RGD:14688048 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 ClinVar PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612 		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: MDR3 deficiency ClinVar PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 More... NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency OMIM
ClinVar		 PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 More... NCBI chr 9:93,171,371...93,262,124 JBrowse link
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 OMIM
ClinVar		 PMID:24033266 PMID:24614073 PMID:25741868 PMID:25741916 PMID:25921221 More... NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983 		JBrowse link
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 NCBI chr 8:104,500,204...104,560,711
Ensembl chr 8:104,500,252...104,560,513 		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 ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition OMIM
ClinVar		 PMID:11030617 PMID:17681172 PMID:21633855 PMID:24806754 PMID:25741868 More... NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		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 member A ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 OMIM
ClinVar		 PMID:25741868 PMID:31863603 NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741905 PMID:25741916 More... NCBI chr 8:104,500,204...104,560,711
Ensembl chr 8:104,500,252...104,560,513 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF12 kinesin family member 12 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:30250217 PMID:30976738 PMID:34555379 NCBI chr 1:254,711,820...254,720,559
Ensembl chr 1:254,711,823...254,719,615 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFYVE19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 OMIM
ClinVar		 PMID:25741909 PMID:32737136 PMID:33853651 NCBI chr 1:130,510,718...130,517,943
Ensembl chr 1:130,510,719...130,517,216 		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 ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar		 PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      gastrointestinal system disease 6424
        hepatobiliary disease 2862
          biliary tract disease 511
            bile duct disease 467
              cholestasis 327
                ARC syndrome + 4
                Aagenaes syndrome 1
                COACH syndrome + 5
                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
                NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS 1
                Osteootohepatoenteric Syndrome 1
                biliary atresia + 17
                congenital bile acid synthesis defect + 7
                extrahepatic cholestasis 51
                intrahepatic cholestasis + 137
                obstructive jaundice + 27
paths to the root