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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.


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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
treatment
ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
mRNA:altered expression:liver (rat)
CTD
RGD
PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 More... RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571 NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment
disease_progression
ISO CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
mRNA,protein:decreased expression:intestine:
CTD
RGD
PMID:10869290 PMID:12702498 PMID:15057744 PMID:16037978 PMID:17009103 More... RGD:11081007 RGD:11081011 RGD:15090804 RGD:1598571 RGD:1598614 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
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 chrNW_004955451:11,087,246...11,130,108
Ensembl chrNW_004955451:11,087,570...11,130,482
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 treatment ISO protein:altered expression:kidney, liver RGD PMID:15030973 PMID:30223280 RGD:15045612 RGD:2301085 NCBI chrNW_004955404:14,700,808...14,927,944
Ensembl chrNW_004955404:14,700,808...14,928,617
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116
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 chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Alb albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955419:28,155,174...28,159,752
Ensembl chrNW_004955419:28,155,174...28,159,752
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chrNW_004955421:21,420,264...21,506,004
Ensembl chrNW_004955421:21,420,147...21,527,037
JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955439:1,773,884...1,794,325
Ensembl chrNW_004955439:1,773,861...1,794,328
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Arg1 arginase 1 ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator like ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004955414:28,652,663...28,748,360
Ensembl chrNW_004955414:28,684,226...28,748,360
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004955460:129,077...167,345
Ensembl chrNW_004955460:125,854...167,506
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955407:18,927,211...18,939,576
Ensembl chrNW_004955407:18,927,211...18,941,424
JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955479:3,961,877...4,485,710
Ensembl chrNW_004955479:3,961,731...4,485,710
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21339256 PMID:27989131 RGD:5130873 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Cd14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chrNW_004955422:11,106,061...11,189,951 JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
G Clock clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004955447:15,394,496...15,537,969
Ensembl chrNW_004955447:15,454,630...15,530,906
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26884397 NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO mRNA:increased expression:liver (mouse)
mRNA:increased expression:liver (rat)
RGD PMID:21274875 PMID:22094456 PMID:22824087 RGD:8552675 RGD:8552699 RGD:8552776 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100
JBrowse link
G CUNH4orf19 chromosome unknown C4orf19 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955443:9,540,047...9,628,483
Ensembl chrNW_004955443:9,540,825...9,565,119
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 chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955414:16,059,781...16,089,727
Ensembl chrNW_004955414:16,059,781...16,089,727
JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955410:12,814,993...12,820,852
Ensembl chrNW_004955410:12,814,479...12,822,777
JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955425:20,202,264...20,236,416
Ensembl chrNW_004955425:20,200,239...20,236,408
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
JBrowse link
G Eng endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955441:19,535,425...19,557,960
Ensembl chrNW_004955441:19,535,425...19,557,458
JBrowse link
G F2rl3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chrNW_004955524:1,045,493...1,047,924
Ensembl chrNW_004955524:1,044,792...1,047,819
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Ghr growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955437:9,414,128...9,425,671
Ensembl chrNW_004955437:9,412,934...9,424,365
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955435:22,380,395...22,404,426
Ensembl chrNW_004955435:22,380,388...22,404,052
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955568:80,386...84,707
Ensembl chrNW_004955568:80,444...84,834
JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955507:3,687,449...3,711,939
Ensembl chrNW_004955507:3,687,769...3,711,151
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 chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chrNW_004955422:29,337,969...29,339,178
Ensembl chrNW_004955422:29,337,757...29,339,178
JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955483:6,598,804...6,601,496
Ensembl chrNW_004955483:6,600,867...6,602,564
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:12826230 PMID:18607346 RGD:10046052 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955434:5,247,278...5,279,043
Ensembl chrNW_004955434:5,191,846...5,279,739
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chrNW_004955468:2,813,183...2,834,326
Ensembl chrNW_004955468:2,813,496...2,834,326
JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9797378 PMID:22461449 PMID:29655695 RGD:15090803 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942
JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955444:6,356,121...6,387,350
Ensembl chrNW_004955444:6,356,154...6,387,529
JBrowse link
G Maob monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
JBrowse link
G Mapk13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004955437:3,899,988...3,907,781
Ensembl chrNW_004955437:3,899,950...3,909,114
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955483:6,273,729...6,379,844
Ensembl chrNW_004955483:6,273,729...6,381,559
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955443:665,235...714,627
Ensembl chrNW_004955443:668,031...713,481
JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955406:23,437,430...23,523,307 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912 PMID:20626112 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:22461449 PMID:28337145 RGD:13439750 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604
JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chrNW_004955451:14,743,763...14,750,903
Ensembl chrNW_004955451:14,742,735...14,750,999
JBrowse link
G Nr1h2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004955559:731,630...736,973
Ensembl chrNW_004955559:730,670...737,505
JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 severity
treatment
ISO mutant FXR-/- mouse
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:ileum (rat)
mRNA:altered expression:liver (rat)
mRNA, protein:altered expression:liver (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 chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004955427:19,459,936...19,487,276
Ensembl chrNW_004955427:19,459,936...19,487,276
JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004955468:12,985,105...13,002,850 JBrowse link
G Otc ornithine transcarbamylase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955458:3,925,356...3,946,879
Ensembl chrNW_004955458:3,926,070...3,941,506
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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 chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chrNW_004955422:20,411,480...20,424,676
Ensembl chrNW_004955422:20,411,480...20,424,931
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chrNW_004955412:12,100,436...12,184,444
Ensembl chrNW_004955412:12,100,359...12,172,545
JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955418:2,504,028...2,539,574
Ensembl chrNW_004955418:2,502,674...2,536,817
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955481:2,102,576...2,107,947
Ensembl chrNW_004955481:2,102,586...2,107,967
JBrowse link
G Serpina5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955438:17,787,398...17,796,013
Ensembl chrNW_004955438:17,787,399...17,796,414
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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 chrNW_004955466:597,081...609,254
Ensembl chrNW_004955466:597,204...608,756
JBrowse link
G Slc10a7 solute carrier family 10 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955428:1,999,341...2,250,201
Ensembl chrNW_004955428:1,999,280...2,250,234
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955562:305,850...455,764
Ensembl chrNW_004955562:306,051...458,889
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004955418:1,176,390...1,192,270
Ensembl chrNW_004955418:1,176,000...1,186,940
JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004955415:15,565,344...15,677,935
Ensembl chrNW_004955415:15,565,249...15,642,153
JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955520:3,631,192...3,641,595 JBrowse link
G Slc51a solute carrier family 51 alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chrNW_004955420:12,452,562...12,463,369
Ensembl chrNW_004955420:12,453,554...12,463,150
JBrowse link
G Slc51b solute carrier family 51 beta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 PMID:22461449 NCBI chrNW_004955450:10,365,554...10,374,209
Ensembl chrNW_004955450:10,365,554...10,374,209
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 chrNW_004955413:16,821,808...16,910,511
Ensembl chrNW_004955413:16,821,791...16,912,903
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004955445:8,232,084...8,237,893
Ensembl chrNW_004955445:8,231,924...8,237,996
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179
JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chrNW_004955435:12,725,952...12,819,280
Ensembl chrNW_004955435:12,730,270...12,819,029
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004955468:1,142,718...1,181,210
Ensembl chrNW_004955468:1,143,118...1,169,632
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955447:14,519,978...14,552,758
Ensembl chrNW_004955447:14,519,064...14,552,758
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chrNW_004955559:1,942,878...1,968,895 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chrNW_004955416:28,640,807...28,869,717
Ensembl chrNW_004955416:28,654,905...28,870,555
JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955500:3,097,088...3,566,616
Ensembl chrNW_004955500:3,087,715...3,568,105
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chrNW_004955428:20,957,807...21,023,380
Ensembl chrNW_004955428:20,957,807...21,023,380
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chrNW_004955484:7,501,784...7,531,757
Ensembl chrNW_004955484:7,500,613...7,531,198
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004955416:15,049,849...15,071,108 JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004955478:4,309,975...4,341,107
Ensembl chrNW_004955478:4,309,880...4,343,934
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO OMIM NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chrNW_004955415:20,292,311...20,315,850
Ensembl chrNW_004955415:20,292,663...20,300,797
JBrowse link
G Notch2 notch receptor 2 ISO OMIM NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chrNW_004955415:20,316,664...20,478,786
Ensembl chrNW_004955415:20,394,192...20,481,249
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chrNW_004955416:15,049,849...15,071,108 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO OMIM NCBI chrNW_004955416:15,049,849...15,071,108 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO OMIM NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO OMIM NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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 chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chrNW_004955627:37,886...43,730
Ensembl chrNW_004955627:38,128...43,728
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:
RGD PMID:10726686 PMID:30059753 RGD:14695528 RGD:14695529 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004955468:1,142,718...1,181,210
Ensembl chrNW_004955468:1,143,118...1,169,632
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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 chrNW_004955439:1,277,185...1,460,296
Ensembl chrNW_004955439:1,276,760...1,474,202
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:21068128 More... NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 More... NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
DNA:missense mutations: :multiple
ClinVar
CTD
RGD
PMID:2929661 PMID:8862632 PMID:9536098 PMID:12368986 PMID:17160906 More... RGD:11535944 RGD:11535946 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO OMIM NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO OMIM NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l RPGRIP1 like ISO OMIM NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569
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 chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO OMIM NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO OMIM NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
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 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO OMIM NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO OMIM NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
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 chrNW_004955426:19,498,942...19,530,628
Ensembl chrNW_004955426:19,498,942...19,530,628
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO OMIM NCBI chrNW_004955423:280,497...359,711
Ensembl chrNW_004955423:280,497...359,711
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO OMIM NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141
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 chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004955404:14,700,808...14,927,944
Ensembl chrNW_004955404:14,700,808...14,928,617
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:31932644 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chrNW_004955444:12,989,210...12,991,300 JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955506:5,766,006...5,775,722
Ensembl chrNW_004955506:5,766,006...5,775,784
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
JBrowse link
G Gjb1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
JBrowse link
G Gjb2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
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 chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955464:1,107,598...1,110,326 JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290
JBrowse link
G Lgals1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004955413:24,072,086...24,075,452
Ensembl chrNW_004955413:24,072,086...24,075,452
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase treatment ISO mRNA:decreased expression:liver, nucleus (rat)
mRNA:decreased expression:liver (rat)
RGD PMID:28660384 PMID:29360226 RGD:14995480 RGD:21203516 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955411:17,177,335...17,229,957
Ensembl chrNW_004955411:17,177,335...17,229,957
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955408:391,094...430,638
Ensembl chrNW_004955408:391,094...430,981
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
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 chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 disease_progression
treatment
ISO protein:increased expression:liver (rat)
mRNA:increased expression:liver (rat)
human gene in mouse model
RGD PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226 RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205 NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
JBrowse link
G Ptn pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004955494:5,580,264...5,681,848
Ensembl chrNW_004955494:5,580,422...5,684,190
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chrNW_004955428:4,131,431...4,178,250
Ensembl chrNW_004955428:4,131,103...4,178,250
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 PMID:30026087 PMID:31932644 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102007967 mitochondrial chaperone BCS1 ISO OMIM NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383
JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome ClinVar PMID:25741868 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO DNA:mutation:exon:p.E924X(mouse)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:deletion:cds:
DNA:transition mutation:intron:
DNA:deletion mutation:exon:
DNA:mutation: :
RGD
ClinVar
PMID:8640229 PMID:9054656 PMID:14671619 PMID:19179303 PMID:21193012 More... RGD:11041609 RGD:11251674 RGD:11251675 RGD:11251676 RGD:11251680 RGD:11251681 RGD:1578350 NCBI chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive RGD
ClinVar
PMID:1558976 RGD:1598910 NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194
JBrowse link
G Klf1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA:splicing error:intron:IVS8+1G>T (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutation:cds:p.G771D (human)
DNA:duplication:cds: (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
RGD
ClinVar
CTD
PMID:1378323 PMID:8282779 PMID:8547122 PMID:9207478 PMID:9326249 RGD:10450491 RGD:10450506 RGD:10450510 RGD:1599007 NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO DNA:deletion:cds:
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:polymorphisms:introns,exon:
RGD
ClinVar
PMID:8941647 PMID:11920196 PMID:15384986 PMID:24033266 PMID:25741868 More... RGD:11059521 RGD:11059522 NCBI chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313
JBrowse link
G Sptb spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 RGD:11059526 NCBI chrNW_004955466:5,013,963...5,170,186
Ensembl chrNW_004955466:5,097,116...5,167,596
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO OMIM NCBI chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin beta, erythrocytic ISO OMIM NCBI chrNW_004955466:5,013,963...5,170,186
Ensembl chrNW_004955466:5,097,116...5,167,596
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO OMIM NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO OMIM NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194
JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9806540 PMID:18049162 PMID:22619174 RGD:14688049 RGD:1598583 NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chrNW_004955456:16,127,877...16,134,039
Ensembl chrNW_004955456:16,127,877...16,134,039
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutation
CTD
RGD
PMID:9500542 PMID:18379143 RGD:1599397 NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chrNW_004955507:2,035,918...2,141,327
Ensembl chrNW_004955507:2,036,050...2,137,377
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 chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO RGD PMID:29404441 RGD:14700873 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
JBrowse link
G Maf MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chrNW_004955522:2,514,313...2,519,694 JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chrNW_004955506:1,247,294...1,252,167
Ensembl chrNW_004955506:1,247,293...1,252,167
JBrowse link
G Nr0b2 nuclear receptor subfamily 0 group B member 2 ISO mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chrNW_004955452:6,251,047...6,253,541
Ensembl chrNW_004955452:6,250,889...6,254,541
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chrNW_004955434:3,781,368...3,923,240 JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004955415:12,138,520...12,154,234
Ensembl chrNW_004955415:12,138,870...12,154,234
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
intrahepatic cholestasis of pregnancy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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 chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: North american indian childhood cirrhosis ClinVar PMID:12417987 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 More... NCBI chrNW_004955484:7,501,784...7,531,757
Ensembl chrNW_004955484:7,500,613...7,531,198
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
JBrowse link
G Alb albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673
JBrowse link
G Tlr2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO OMIM NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581
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 chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
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 chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495
JBrowse link
G Agt angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12126966 PMID:15770052 RGD:14995336 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721
JBrowse link
G Cd80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004955427:19,237,251...19,274,001
Ensembl chrNW_004955427:19,236,445...19,261,517
JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004955433:22,957,718...22,994,515
Ensembl chrNW_004955433:22,967,960...22,992,924
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chrNW_004955415:14,626,154...14,628,749
Ensembl chrNW_004955415:14,626,949...14,628,748
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004955442:7,369,616...7,584,052
Ensembl chrNW_004955442:7,368,952...7,584,703
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004955408:26,535,281...26,597,317
Ensembl chrNW_004955408:26,535,281...26,597,547
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility
disease_progression
no_association
ISO autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:49A>G(human)
RGD PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562 RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004955412:20,016,768...20,031,635
Ensembl chrNW_004955412:20,016,587...20,031,629
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955506:5,766,006...5,775,722
Ensembl chrNW_004955506:5,766,006...5,775,784
JBrowse link
G Dag1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312
JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004955406:34,021,508...34,241,735
Ensembl chrNW_004955406:34,027,046...34,241,737
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chrNW_004955442:13,733,107...13,736,527 JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15651265 RGD:9685530 NCBI chrNW_004955513:5,070,050...5,075,098
Ensembl chrNW_004955513:5,068,875...5,075,098
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
JBrowse link
G Hhip hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chrNW_004955428:657,918...745,255
Ensembl chrNW_004955428:657,900...745,250
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004955456:6,810,461...6,814,944
Ensembl chrNW_004955456:6,810,056...6,815,685
JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il12a interleukin 12A susceptibility
treatment
ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
DNA:SNP: :rs62270414(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chrNW_004955448:10,611,131...10,617,911 JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
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 chrNW_004955524:3,276,932...3,299,617 JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577
JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290
JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chrNW_004955458:227,017...230,752
Ensembl chrNW_004955458:226,805...232,728
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chrNW_004955547:2,584,425...2,598,770
Ensembl chrNW_004955547:2,533,377...2,598,833
JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chrNW_004955520:401,733...418,279 JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lepr leptin receptor ISO protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926
JBrowse link
G Loxl2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chrNW_004955439:20,956,862...20,957,839
Ensembl chrNW_004955439:20,956,862...20,957,839
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chrNW_004955476:11,108,826...11,135,697 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression, increased activity:brain (rat)
CTD
RGD
PMID:21903766 PMID:30026087 RGD:5509055 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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 chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004955425:25,896,849...25,903,869
Ensembl chrNW_004955425:25,896,849...25,904,006
JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chrNW_004955559:1,012,919...1,033,465
Ensembl chrNW_004955559:1,030,894...1,032,462
JBrowse link
G Pde5a phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chrNW_004955428:20,785,497...20,904,717
Ensembl chrNW_004955428:20,785,423...20,904,717
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Ren renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chrNW_004955451:3,181,085...3,225,610 JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chrNW_004955491:5,498,472...5,513,389
Ensembl chrNW_004955491:5,499,033...5,517,319
JBrowse link
G Slc51a solute carrier family 51 alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chrNW_004955420:12,452,562...12,463,369
Ensembl chrNW_004955420:12,453,554...12,463,150
JBrowse link
G Slc51b solute carrier family 51 beta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chrNW_004955450:10,365,554...10,374,209
Ensembl chrNW_004955450:10,365,554...10,374,209
JBrowse link
G Slco1c1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chrNW_004955413:16,654,655...16,705,638
Ensembl chrNW_004955413:16,654,618...16,705,720
JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Spib Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chrNW_004955559:705,809...711,407 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004955468:1,142,718...1,181,210
Ensembl chrNW_004955468:1,143,118...1,169,632
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNPs, haplotypes:multiple
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: intron: (rs7574865) (human)
RGD
CTD
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 RGD:25671415 RGD:25671416 RGD:25671421 NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tlr9 toll like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chrNW_004955532:3,828,645...3,832,699 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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chrNW_004955495:1,618,099...1,637,996
Ensembl chrNW_004955495:1,617,999...1,636,068
JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004955583:29,438...29,873
Ensembl chrNW_004955583:29,438...31,555
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chrNW_004955484:7,501,784...7,531,757
Ensembl chrNW_004955484:7,500,613...7,531,198
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :
RGD PMID:15683428 PMID:19376604 RGD:14401750 RGD:14402024 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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 chrNW_004955437:9,527,445...9,541,908 JBrowse link
progressive familial intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:15300568 PMID:16039748 More... NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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 chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 ClinVar PMID:21633855 PMID:26888176 NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
JBrowse link
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 disease_progression ISO DNA:mutation:cds:p.D482G(human)
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
OMIM
RGD
PMID:20447715 PMID:23758865 RGD:14402418 RGD:14688048 NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2 ClinVar PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
JBrowse link
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3 ClinVar PMID:16641580 PMID:18395098 PMID:22364601 PMID:25741868 PMID:27114171 NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO OMIM NCBI chrNW_004955434:3,781,368...3,923,240 JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 NCBI chrNW_004955428:20,957,807...21,023,380
Ensembl chrNW_004955428:20,957,807...21,023,380
JBrowse link
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1h4 nuclear receptor subfamily 1 group H member 4 ISO OMIM NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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 alpha subunit ISO OMIM NCBI chrNW_004955420:12,452,562...12,463,369
Ensembl chrNW_004955420:12,453,554...12,463,150
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO OMIM NCBI chrNW_004955520:401,733...418,279 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12763
    disease of anatomical entity 12447
      gastrointestinal system disease 5058
        biliary tract disease 397
          bile duct disease 366
            cholestasis 271
              ARC syndrome + 2
              Aagenaes syndrome 0
              COACH syndrome + 4
              Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
              Cholesterol Pneumonia 0
              GRACILE syndrome 1
              Hardikar Syndrome 1
              Lutz Richner Landolt Syndrome 0
              Mirizzi Syndrome 0
              Osteootohepatoenteric Syndrome 1
              biliary atresia + 15
              congenital bile acid synthesis defect + 7
              extrahepatic cholestasis 49
              intrahepatic cholestasis + 114
              obstructive jaundice + 17
Path 2
Term Annotations click to browse term
  disease 12763
    disease of anatomical entity 12447
      gastrointestinal system disease 5058
        hepatobiliary disease 2166
          biliary tract disease 397
            bile duct disease 366
              cholestasis 271
                ARC syndrome + 2
                Aagenaes syndrome 0
                COACH syndrome + 4
                Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
                Cholesterol Pneumonia 0
                GRACILE syndrome 1
                Hardikar Syndrome 1
                Lutz Richner Landolt Syndrome 0
                Mirizzi Syndrome 0
                Osteootohepatoenteric Syndrome 1
                biliary atresia + 15
                congenital bile acid synthesis defect + 7
                extrahepatic cholestasis 49
                intrahepatic cholestasis + 114
                obstructive jaundice + 17
paths to the root