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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 protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
RGD
CTD
PMID:11179459, PMID:12702498, PMID:22461449, PMID:24713091, PMID:27090119, PMID:27593105, PMID:29087027 RGD:14402412, RGD:14402414, RGD:15090804, RGD:1598571 NCBI chrNW_004936469:10,521,576...10,599,005 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO DNA:mutations: : RGD PMID:11680581, PMID:26324191 RGD:11565494, RGD:1598589 NCBI chrNW_004936763:1,339,849...1,415,528 JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment
disease_progression
ISO mRNA,protein:decreased expression:intestine:
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
RGD
CTD
PMID:10869290, PMID:12702498, PMID:15057744, PMID:16037978, PMID:17009103, PMID:17681005, PMID:22521610, PMID:27090119 RGD:11081007, RGD:11081011, RGD:15090804, RGD:1598571, RGD:1598614 NCBI chrNW_004936636:292,631...341,999 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_004936490:11,039,968...11,086,670 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_004936472:14,396,986...14,624,597 JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004936508:8,093,804...8,117,467 JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chrNW_004936508:8,074,697...8,093,424 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_004936669:3,449,259...3,478,471 JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936524:6,083,482...6,087,802 JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chrNW_004936898:456,299...484,681 JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936560:2,562,394...2,580,261 JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:17201892 RGD:10054045 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator like ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004936528:5,167,611...5,239,128 JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bex4 brain expressed X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936547:8,000,064...8,002,029 JBrowse link
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004936478:18,811,452...18,850,594 JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936505:10,032,333...10,046,008 JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936605:2,505,064...3,012,322 JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21339256, PMID:27989131 RGD:5130873 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Cd14 CD14 molecule ISO RGD PMID:22511970 RGD:7183752 NCBI chrNW_004936531:9,572,392...9,575,771 JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chrNW_004936533:2,949,026...3,033,166 JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Clock clock circadian regulator ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chrNW_004936482:17,789,834...17,900,371 JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO ClinVar Annotator: match by term: Cholestasis
mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)
RGD
ClinVar
PMID:21274875, PMID:22094456, PMID:22824087, PMID:25741868, PMID:30311386 RGD:8552675, RGD:8552699, RGD:8552776 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chrNW_004936519:6,431,156...6,473,183 JBrowse link
G CUNH4orf19 chromosome unknown C4orf19 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936482:5,592,667...5,614,527 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_004936676:60,869...63,028 JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936498:4,514,212...4,544,523 JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936653:1,554,534...1,558,832 JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936521:10,360,775...10,403,201 JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936531:7,625,956...7,629,041 JBrowse link
G Eng endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936491:351,813...377,978 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO RGD PMID:18802767 RGD:2307352 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Ghr growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chrNW_004936518:235,996...380,225 JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936476:16,389,659...16,397,603 JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936473:2,823,183...2,856,077 JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936627:4,167,501...4,179,596 JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936867:742,539...747,035 JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936636:2,101,184...2,125,377 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_004936501:13,363,630...13,367,553 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936659:616,570...627,172 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_004936485:18,610,721...18,611,889 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:12826230, PMID:18607346 RGD:10046052 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936503:4,125,302...4,255,880 JBrowse link
G Kmt2b lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chrNW_004936570:583,616...605,846 JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chrNW_004936479:9,584,221...9,622,330 JBrowse link
G LOC101955077 25-hydroxycholesterol 7-alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chrNW_004936496:8,900,320...9,072,109 JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chrNW_004936569:1,213,700...1,250,181 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101969421 cytochrome P450 1A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chrNW_004936471:33,704,616...33,709,455 JBrowse link
G LOC101970910 cholesterol 7-alpha-monooxygenase treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9797378, PMID:22461449, PMID:29655695 RGD:15090803 NCBI chrNW_004936496:4,599,138...4,605,653 JBrowse link
G LOC101976500 haptoglobin ISO mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chrNW_004936695:2,263,868...2,265,373 JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936648:2,653,252...2,671,453 JBrowse link
G Maob monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chrNW_004936502:9,907,181...10,014,756 JBrowse link
G Mapk13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936476:23,212,116...23,218,726 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936476:23,237,762...23,310,211 JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936552:5,470,645...5,528,232 JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936482:14,008,825...14,062,654 JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936481:5,178,595...5,319,681 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912, PMID:20626112 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936481:6,942,128...6,977,042 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_004936475:19,771,384...19,785,034 JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chrNW_004936490:15,206,194...15,213,858 JBrowse link
G Nr1h2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004936889:223,137...229,968 JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chrNW_004936562:1,937,665...1,946,680 JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 treatment
severity
ISO mRNA:increased expression:ileum (rat)
mRNA:altered expression:liver (rat)
mRNA, protein:altered expression:liver (rat)
mutant FXR-/- mouse
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12949728, PMID:22461449, PMID:23178280, PMID:27090119, PMID:29235094, PMID:30061734, PMID:30077711, PMID:30223280 RGD:14701031, RGD:15042872, RGD:15045597, RGD:15045612, RGD:15090804, RGD:15092071 NCBI chrNW_004936492:13,315,265...13,365,186 JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004936536:6,691,590...6,726,421 JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chrNW_004936903:527,838...533,930 JBrowse link
G Otc ornithine carbamoyltransferase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chrNW_004936502:5,234,253...5,291,891 JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936646:719,821...737,284 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_004936492:2,353,840...2,368,573 JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chrNW_004936485:16,559,371...16,571,461 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chrNW_004936493:7,060,747...7,065,276 JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936585:4,954,871...4,979,560 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_004936518:1,817,051...1,843,376 JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chrNW_004936599:4,551,164...4,564,109 JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chrNW_004936612:3,992,542...4,060,598 JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936531:7,055,841...7,103,810 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936599:3,800,142...3,810,583 JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936538:7,226,570...7,233,203 JBrowse link
G Serpina5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936846:141,334...150,381 JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936543:1,032,543...1,040,956 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_004936495:12,958,983...12,975,755 JBrowse link
G Slc10a7 solute carrier family 10 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936535:2,792,576...3,038,504 JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936683:803,186...910,143 JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004936531:8,457,779...8,471,244 JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chrNW_004936485:13,885,067...13,976,623 JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936650:2,252,554...2,267,990 JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chrNW_004936784:864,019...887,755 JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chrNW_004936471:25,355,849...25,379,481 JBrowse link
G Slco1a2 solute carrier organic anion transporter family member 1A2 treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
CTD
RGD
PMID:22461449, PMID:27090119 RGD:15090804 NCBI chrNW_004936548:5,507,085...5,562,624 JBrowse link
G Slco1b3 solute carrier organic anion transporter family member 1B3 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chrNW_004936548:5,593,908...5,682,187 JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936514:4,456,498...4,462,436 JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936542:6,192,407...6,352,835 JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chrNW_004936704:832,651...901,658 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936471:4,238,883...4,251,291 JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936801:1,041,946...1,069,617 JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936482:18,687,088...18,721,734 JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chrNW_004936664:2,626,810...2,655,290 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chrNW_004936502:13,345,936...13,350,170 JBrowse link
G Tjp1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chrNW_004936483:1,814,870...2,045,802 JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tmed7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936742:779,964...791,738 JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936512:2,327,765...2,765,488 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chrNW_004936529:5,997,459...6,010,776 JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chrNW_004936869:169,118...226,495 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_004936475:19,295,047...19,324,340 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936569:914,511...938,481 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004936483:16,007,448...16,031,353 JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chrNW_004936541:7,782,836...7,812,142 JBrowse link
G Xdh xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chrNW_004936493:1,762,814...1,824,501 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_004936485:8,857,688...8,894,270 JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chrNW_004936485:9,089,118...9,114,396 JBrowse link
G Notch2 notch receptor 2 ISO OMIM NCBI chrNW_004936872:454,273...539,544 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_004936485:8,907,153...9,088,595 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_004936485:9,198,744...9,279,854 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_004936488:6,247,329...6,277,494 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_004936483:16,007,448...16,031,353 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_004936488:6,247,329...6,277,494 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO OMIM NCBI chrNW_004936483:16,007,448...16,031,353 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_004936488:6,247,329...6,277,494 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_004936497:6,652,240...6,712,960 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_004936469:10,521,576...10,599,005 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_004936578:3,168,599...3,179,369 JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chrNW_004936531:9,572,392...9,575,771 JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chrNW_004936604:4,504,519...4,511,897 JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chrNW_004936619:762,278...791,610 JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004936469:49,616,552...49,788,760 JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chrNW_004936570:1,009,344...1,010,654 JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chrNW_004936659:616,570...627,172 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 chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chrNW_004936527:10,033,095...10,042,713 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_004936471:4,238,883...4,251,291 JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936801:1,041,946...1,069,617 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chrNW_004936905:148,956...156,023 JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO OMIM NCBI chrNW_004936477:12,315,829...12,415,915 JBrowse link
G Rpgrip1l RPGRIP1 like ISO OMIM NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
G Tmem67 transmembrane protein 67 ISO OMIM NCBI chrNW_004936544:6,887,867...6,931,669 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_004936592:2,486,219...2,522,796 JBrowse link
G LOC101955077 25-hydroxycholesterol 7-alpha-hydroxylase ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chrNW_004936496:8,900,320...9,072,109 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_004936501:13,363,630...13,367,553 JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 4 ClinVar PMID:24614073, PMID:25741868, PMID:25921221 NCBI chrNW_004936503:5,414,330...5,539,895 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_004936592:2,486,219...2,522,796 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 LOC101955077 25-hydroxycholesterol 7-alpha-hydroxylase ISO OMIM NCBI chrNW_004936496:8,900,320...9,072,109 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_004936518:7,072,436...7,088,927 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_004936537:4,659,685...4,745,992 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_004936473:2,494,568...2,525,956 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_004936559:7,177,887...7,312,660 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_004936472:14,396,986...14,624,597 JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936735:266,918...283,858 JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936560:42,561...45,748 JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936506:8,886,494...8,923,921 JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chrNW_004936496:7,759,656...7,761,555 JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936594:1,602,436...1,613,783 JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936488:4,384,710...4,388,118 JBrowse link
G Gjb1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chrNW_004936762:389,655...398,035 JBrowse link
G Gjb2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chrNW_004936720:1,528,205...1,530,296 JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chrNW_004936570:1,009,344...1,010,654 JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936472:25,236,728...25,246,585 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_004936627:4,451,847...4,473,163 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_004936668:62,103...81,549 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936522:3,034,364...3,037,632 JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936659:785,059...793,775 JBrowse link
G Lgals1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004936492:3,407,704...3,411,197 JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004936569:1,213,700...1,250,181 JBrowse link
G LOC101970910 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_004936496:4,599,138...4,605,653 JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chrNW_004936695:2,263,868...2,265,373 JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936510:1,772,971...1,836,075 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936619:1,889,841...1,932,646 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936476:23,237,762...23,310,211 JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936501:12,342,670...12,390,650 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936728:1,775,746...1,893,895 JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936739:551,678...602,027 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936490:4,809,773...4,819,070 JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936473:27,672,237...27,676,339 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:30026087, PMID:31900718 RGD:21201303 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936527:6,427,147...6,445,770 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 chrNW_004936492:13,315,265...13,365,186 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
G Ptn pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chrNW_004936592:1,706,979...1,806,345 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chrNW_004936599:3,800,142...3,810,583 JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chrNW_004936535:8,094,479...8,143,108 JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chrNW_004936489:11,534,095...11,556,759 JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chrNW_004936489:11,605,403...11,627,786 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936502:13,345,936...13,350,170 JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936594:3,232,433...3,244,241 JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101961358 mitochondrial chaperone BCS1 ISO OMIM NCBI chrNW_004936569:1,104,493...1,108,708 JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:mutation:exon:p.E924X(mouse)
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:deletion:cds:
DNA:mutation: :
DNA:deletion mutation:exon:
RGD
ClinVar
PMID:8640229, PMID:9054656, PMID:14671619, PMID:19179303, PMID:21193012, PMID:23390527, PMID:23934996 RGD:11041609, RGD:11251674, RGD:11251675, RGD:11251676, RGD:11251680, RGD:11251681, RGD:1578350 NCBI chrNW_004936785:738,323...944,734 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936493:5,308,268...5,332,934 JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936475:21,863,627...21,877,660 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_004936471:6,377,232...6,393,588 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_004936659:1,946,614...1,950,003 JBrowse link
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chrNW_004936740:1,765,462...1,766,403 JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:duplication:cds: (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
CTD
ClinVar
RGD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chrNW_004936541:718,577...727,420 JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 RGD:11059521, RGD:11059522 NCBI chrNW_004936740:1,686,218...1,759,083 JBrowse link
G Sptb spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
mRNA:decreased expression:erythrocyte:
CTD
ClinVar
RGD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chrNW_004936495:8,415,950...8,540,590 JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936725:553,278...564,846 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_004936785:738,323...944,734 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_004936495:8,415,950...8,540,590 JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chrNW_004936740:1,765,462...1,766,403 JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chrNW_004936740:1,686,218...1,759,083 JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO OMIM NCBI chrNW_004936541:718,577...727,420 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_004936471:6,377,232...6,393,588 JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 susceptibility ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9806540, PMID:12370274, PMID:14672610, PMID:15791618, PMID:17855769, PMID:18049162, PMID:18395098, PMID:19101985, PMID:22619174, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:28492532, PMID:30311386 RGD:14688049, RGD:1598583 NCBI chrNW_004936469:10,521,576...10,599,005 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
RGD
ClinVar
PMID:8106172, PMID:18781607, PMID:30311386, PMID:30935993 RGD:1300325, RGD:14695044, RGD:14695045 NCBI chrNW_004936763:1,339,849...1,415,528 JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chrNW_004936543:1,052,692...1,058,070 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO DNA:mutation
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9500542, PMID:18379143 RGD:1599397 NCBI chrNW_004936497:6,652,240...6,712,960 JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083, PMID:22094456 NCBI chrNW_004936531:7,625,956...7,629,041 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis ClinVar PMID:30311386 NCBI chrNW_004936471:10,747,030...10,969,223 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_004936501:13,363,630...13,367,553 JBrowse link
G LOC101973029 cytochrome P450 2E1 ISO RGD PMID:29404441 RGD:14700873 NCBI chrNW_004936486:19,691,822...19,702,684 JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chrNW_004936594:5,425,117...5,430,057 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_004936474:11,316,857...11,319,669 JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chrNW_004936492:13,315,265...13,365,186 JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chrNW_004936489:11,534,095...11,556,759 JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chrNW_004936489:11,605,403...11,627,786 JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chrNW_004936503:5,414,330...5,539,895 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 chrNW_004936763:1,339,849...1,415,528 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis of pregnancy
CTD
ClinVar
PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chrNW_004936497:6,652,240...6,712,960 JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004936504:12,530,546...12,546,556 JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chrNW_004936748:785,491...802,791 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_004936497:6,652,240...6,712,960 JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:15300568, PMID:16039748, PMID:16871584, PMID:17855769, PMID:18395098, PMID:19101985, PMID:20232290, PMID:20583290, PMID:23022423, PMID:23279303, PMID:23750872, PMID:24231640, PMID:24402531, PMID:24991443, PMID:25741868, PMID:27050426, PMID:27153395, PMID:28492532, PMID:32581362 NCBI chrNW_004936469:10,521,576...10,599,005 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chrNW_004936763:1,339,849...1,415,528 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 OMIM NCBI chrNW_004936475:19,295,047...19,324,340 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 chrNW_004936763:1,339,849...1,415,528 JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004936528:8,005,223...8,007,586 JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936531:9,572,392...9,575,771 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chrNW_004936542:4,037,888...4,046,089 JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936561:3,017,471...3,035,481 JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chrNW_004936485:13,766,221...13,771,215 JBrowse link
G Tlr2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chrNW_004936498:3,059,700...3,066,112 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_004936559:7,177,887...7,312,660 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 disease_progression ISO DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18671305, PMID:20040336, PMID:30682444 RGD:14694982 NCBI chrNW_004936763:1,339,849...1,415,528 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_004936636:292,631...341,999 JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chrNW_004936470:4,964,526...5,011,808 JBrowse link
G Agt angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chrNW_004936550:5,931,201...5,943,999 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 chrNW_004936490:253,279...259,947 JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chrNW_004936560:42,561...45,748 JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936542:3,400,129...3,403,628 JBrowse link
G Cd80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936475:16,738,772...16,775,000 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chrNW_004936485:14,914,644...14,917,265 JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936530:9,089,478...9,264,563 JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004936483:17,216,288...17,296,430 JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chrNW_004936609:1,793,027...1,858,586 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 chrNW_004936631:484,356...489,643 JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936676:60,869...63,028 JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936676:33,580...40,323 JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936542:3,860,536...3,872,528 JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936594:1,602,436...1,613,783 JBrowse link
G Dag1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chrNW_004936529:1,099,510...1,171,587 JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936567:6,131,433...6,353,003 JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chrNW_004936694:704,948...715,846 JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15651265 RGD:9685530 NCBI chrNW_004936669:901,192...906,765 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004936721:1,118,376...1,125,282 JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645, PMID:23704825 RGD:11041639, RGD:11041732 NCBI chrNW_004936570:1,009,344...1,010,654 JBrowse link
G Hhip hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chrNW_004936535:4,210,305...4,305,930 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Icam3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936659:667,503...673,969 JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936478:20,494,190...20,499,001 JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il12a interleukin 12A susceptibility
treatment
ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs62270414(human)
RGD
CTD
PMID:19458352, PMID:20639880, PMID:23433321, PMID:27175695 RGD:25440489, RGD:25440498, RGD:25440500 NCBI chrNW_004936519:6,166,060...6,180,652 JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chrNW_004936515:4,056,214...4,066,121 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_004936596:3,062,620...3,076,349 JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936518:5,815,820...5,842,571 JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chrNW_004936503:111,722...243,627 JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936659:785,059...793,775 JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chrNW_004936512:10,290,706...10,294,647 JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chrNW_004936512:9,641,587...9,656,573 JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chrNW_004936526:2,254,463...2,282,785 JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chrNW_004936479:15,394,966...15,411,334 JBrowse link
G Lepr leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004936575:2,526,067...2,533,996 JBrowse link
G Loxl2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004936555:6,781,563...6,865,662 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936476:23,237,762...23,310,211 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chrNW_004936589:2,280,803...2,390,179 JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chrNW_004936737:970,504...997,452 JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004936551:5,040,084...5,050,384 JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chrNW_004936816:60,499...91,628 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936520:733,760...850,563 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 chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936527:6,427,147...6,445,770 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_004936492:13,315,265...13,365,186 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_004936504:10,960,069...11,056,834 JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936549:1,869,811...1,873,600 JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chrNW_004936664:3,690,728...3,713,819 JBrowse link
G Pde5a phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chrNW_004936869:24,265...117,120 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936599:3,800,142...3,810,583 JBrowse link
G Ren renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chrNW_004936567:598,044...607,628 JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chrNW_004936490:3,441,046...3,492,917 JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chrNW_004936527:6,485,566...6,499,901 JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chrNW_004936784:864,019...887,755 JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chrNW_004936471:25,355,849...25,379,481 JBrowse link
G Slco1c1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chrNW_004936548:5,698,218...5,745,870 JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Spib Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chrNW_004936889:254,599...258,882 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936471:4,238,883...4,251,291 JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chrNW_004936801:1,041,946...1,069,617 JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes:multiple
DNA:SNP: intron: (rs7574865) (human)
RGD
CTD
PMID:21399635, PMID:24648611, PMID:26084578, PMID:28395724 RGD:25671415, RGD:25671416, RGD:25671421 NCBI chrNW_004936506:7,091,982...7,185,938 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chrNW_004936661:3,742,080...3,758,266 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_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chrNW_004936659:681,463...704,484 JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chrNW_004936723:1,218,621...1,221,070 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_004936475:19,295,047...19,324,340 JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :
RGD PMID:15683428, PMID:19376604 RGD:14401750, RGD:14402024 NCBI chrNW_004936512:5,741,836...5,800,999 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_004936476:16,245,134...16,261,180 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, PMID:17855769, PMID:18395098, PMID:19101985, PMID:24991443, PMID:28492532, PMID:32581362 NCBI chrNW_004936469:10,521,576...10,599,005 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chrNW_004936497:6,652,240...6,712,960 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_004936469:10,521,576...10,599,005 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
CTD
ClinVar
PMID:12891548, PMID:17726488, PMID:18482588, PMID:19584064, PMID:21056966, PMID:23533021, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26900700, PMID:32581362 NCBI chrNW_004936763:1,339,849...1,415,528 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chrNW_004936497:6,652,240...6,712,960 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_004936492:13,315,265...13,365,186 JBrowse link
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 disease_progression ISO DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)
OMIM
RGD
PMID:20447715, PMID:23758865 RGD:14402418, RGD:14688048 NCBI chrNW_004936469:10,521,576...10,599,005 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, PMID:25741868, PMID:28492532 NCBI chrNW_004936497:6,652,240...6,712,960 JBrowse link
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chrNW_004936763:1,339,849...1,415,528 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_004936503:5,414,330...5,539,895 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_004936869:169,118...226,495 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_004936492:13,315,265...13,365,186 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_004936526:2,254,463...2,282,785 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      gastrointestinal system disease 3824
        biliary tract disease 379
          bile duct disease 350
            cholestasis 266
              ARC syndrome + 2
              Aagenaes syndrome 0
              COACH syndrome 3
              Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
              Cholesterol Pneumonia 0
              GRACILE syndrome 1
              Hardikar Syndrome 0
              Lutz Richner Landolt Syndrome 0
              Mirizzi Syndrome 0
              biliary atresia + 15
              congenital bile acid synthesis defect + 7
              extrahepatic cholestasis 48
              intrahepatic cholestasis + 112
              obstructive jaundice + 18
Path 2
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      gastrointestinal system disease 3824
        hepatobiliary disease 2106
          biliary tract disease 379
            bile duct disease 350
              cholestasis 266
                ARC syndrome + 2
                Aagenaes syndrome 0
                COACH syndrome 3
                Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
                Cholesterol Pneumonia 0
                GRACILE syndrome 1
                Hardikar Syndrome 0
                Lutz Richner Landolt Syndrome 0
                Mirizzi Syndrome 0
                biliary atresia + 15
                congenital bile acid synthesis defect + 7
                extrahepatic cholestasis 48
                intrahepatic cholestasis + 112
                obstructive jaundice + 18
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.