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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 0610040J01Rik RIKEN cDNA 0610040J01 gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:63,811,657...63,899,626
Ensembl chr 5:63,812,363...63,899,625
JBrowse link
G Abcb11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 treatment
susceptibility
ISO
IMP
mRNA:altered expression:liver (rat)
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:11179459, PMID:22461449, PMID:24713091, PMID:12702498, PMID:27090119, PMID:27593105, PMID:29087027 RGD:1598571, RGD:15090804, RGD:14402414, RGD:14402412 NCBI chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Abcb1b ATP-binding cassette, sub-family B (MDR/TAP), member 1B ISO RGD PMID:11680581 RGD:1598589 NCBI chr 5:8,798,147...8,866,314
Ensembl chr 5:8,798,147...8,866,315
JBrowse link
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 ISO
IEA
DNA:mutations: : MouseDO PMID:11680581, PMID:26324191 RGD:1598589, RGD:11565494 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 treatment
disease_progression
ISO mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:intestine:
mRNA,protein:decreased expression:intestine:
CTD PMID:10869290, PMID:17681005, PMID:22521610, PMID:16037978, PMID:27090119, PMID:17009103, PMID:15057744, PMID:15057744, PMID:12702498 RGD:1598614, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598571 NCBI chr19:43,782,308...43,838,332
Ensembl chr19:43,782,192...43,840,740
JBrowse link
G Abcc3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 ISO protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:22461449, PMID:18096675, PMID:23486593 RGD:2301060, RGD:11535162 NCBI chr11:94,343,295...94,393,017
Ensembl chr11:94,343,295...94,392,997
JBrowse link
G Abcc4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 treatment ISO protein:altered expression:kidney, liver RGD PMID:15030973, PMID:30223280 RGD:2301085, RGD:15045612 NCBI chr14:118,482,692...118,707,856
Ensembl chr14:118,482,692...118,706,219
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO RGD PMID:16764892 RGD:1598662 NCBI chr17:84,658,174...84,683,011
Ensembl chr17:84,658,234...84,683,011
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:16764892 RGD:1598662 NCBI chr17:84,676,302...84,700,333
Ensembl chr17:84,676,302...84,700,333
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 ISO mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 3:138,437,200...138,455,499
Ensembl chr 3:138,443,093...138,455,499
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Alb albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:45,799,022...45,804,608
Ensembl chr 4:45,799,022...45,804,604
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 treatment ISO RGD PMID:30223280 RGD:15045612 NCBI chr 6:90,550,768...90,599,171
Ensembl chr 6:90,486,427...90,600,203
JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:21,377,300...21,396,578
Ensembl chr10:21,377,291...21,396,585
JBrowse link
G Apoc3 apolipoprotein C-III ISO RGD PMID:17201892 RGD:10054045 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Arg1 arginase, liver ISO protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 7:113,178,471...113,314,126
Ensembl chr 7:113,207,465...113,314,126
JBrowse link
G Bcat1 branched chain aminotransferase 1, cytosolic ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:144,993,835...145,076,157
Ensembl chr 6:144,993,835...145,076,184
JBrowse link
G Bex4 brain expressed X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:136,138,996...136,140,443
Ensembl chr  X:136,138,996...136,140,443
JBrowse link
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 2:127,070,629...127,097,084
Ensembl chr 2:127,070,665...127,097,084
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr16:78,359,860...78,377,181
Ensembl chr16:78,332,637...78,377,192
JBrowse link
G Cadps2 Ca2+-dependent activator protein for secretion 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 6:23,262,773...23,841,175
Ensembl chr 6:23,262,773...23,839,421
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131, PMID:21339256 RGD:5130873 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ccl7 chemokine (C-C motif) ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr11:82,045,712...82,047,525
Ensembl chr11:82,045,712...82,047,525
JBrowse link
G Cd14 CD14 antigen ISO RGD PMID:22511970 RGD:7183752 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cd44 CD44 antigen ISO protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr 2:102,811,141...102,901,669
Ensembl chr 2:102,811,141...102,901,665
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
JBrowse link
G Clock circadian locomotor output cycles kaput ISO mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 5:76,209,868...76,305,603
Ensembl chr 5:76,209,868...76,304,792
JBrowse link
G Col1a1 collagen, type I, alpha 1 treatment IEP
ISO
mRNA:increased expression:liver (mouse)
ClinVar Annotator: match by term: Cholestasis
mRNA:increased expression:liver (rat)
ClinVar PMID:25741868, PMID:30311386, PMID:22094456, PMID:22824087, PMID:21274875 RGD:8552675, RGD:8552776, RGD:8552699 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr 3:19,956,933...20,009,750
Ensembl chr 3:19,957,054...20,009,145
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Cxcl2 chemokine (C-X-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 5:90,903,899...90,905,938
Ensembl chr 5:90,903,871...90,905,938
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 9:57,676,937...57,683,655
Ensembl chr 9:57,676,937...57,683,703
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr 1:74,713,148...74,737,897
Ensembl chr 1:74,713,574...74,737,892
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 7:25,897,658...25,926,624
Ensembl chr 7:25,897,620...25,926,624
JBrowse link
G Cyp3a11 cytochrome P450, family 3, subfamily a, polypeptide 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 5:145,854,607...145,879,854
Ensembl chr 5:145,854,426...145,879,964
JBrowse link
G Cyp4a14 cytochrome P450, family 4, subfamily a, polypeptide 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 4:115,486,200...115,496,158
Ensembl chr 4:115,486,200...115,496,142
JBrowse link
G Cyp7a1 cytochrome P450, family 7, subfamily a, polypeptide 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:9797378, PMID:22461449, PMID:29655695 RGD:15090803 NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 3:18,071,944...18,243,890
Ensembl chr 3:18,071,950...18,243,338
JBrowse link
G Cyp8b1 cytochrome P450, family 8, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 9:121,914,356...121,916,305
Ensembl chr 9:121,914,356...121,916,305
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 7:99,153,663...99,182,713
Ensembl chr 7:99,153,658...99,182,719
JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr12:44,205,897...44,210,068
Ensembl chr12:44,205,559...44,210,326
JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr10:63,382,443...63,408,840
Ensembl chr10:63,382,443...63,410,576
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Eng endoglin ISO protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr11:30,862,794...30,954,386
Ensembl chr11:30,930,774...30,954,335
JBrowse link
G F2rl3 coagulation factor II (thrombin) receptor-like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 8:72,761,659...72,763,898
Ensembl chr 8:72,761,880...72,763,874
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO RGD PMID:18802767 RGD:2307352 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Ghr growth hormone receptor IEP mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr15:3,317,755...3,583,352
Ensembl chr15:3,317,760...3,583,492
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 treatment ISO RGD PMID:25932098 RGD:14701043 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 treatment ISO RGD PMID:23960717 RGD:10401941 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:46,159,227...46,169,370
Ensembl chr17:46,161,032...46,169,370
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:31,607,226...31,640,965
Ensembl chr14:31,598,730...31,641,286
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 3:98,874,519...98,895,376
Ensembl chr 3:98,874,521...98,893,239
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 3:96,525,163...96,529,216
Ensembl chr 3:96,525,172...96,529,210
JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr19:42,045,559...42,071,689
Ensembl chr19:42,045,610...42,070,953
JBrowse link
G Hp haptoglobin ISO mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 7:127,800,609...127,803,802
Ensembl chr 7:127,800,604...127,803,802
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr 2:152,736,251...152,737,410
Ensembl chr 2:152,736,251...152,737,410
JBrowse link
G Id4 inhibitor of DNA binding 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:48,261,116...48,266,028
Ensembl chr13:48,261,228...48,266,026
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12826230, PMID:18607346 RGD:10046052 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il2 interleukin 2 treatment IDA RGD PMID:29698570 RGD:14928214 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20031157 RGD:2317270 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr19:25,236,732...25,434,498
Ensembl chr19:25,236,975...25,434,496
JBrowse link
G Kmt2b lysine (K)-specific methyltransferase 2B IEP mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr 7:30,568,855...30,589,056
Ensembl chr 7:30,568,858...30,588,726
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:38,399,647...38,456,460
Ensembl chr  X:38,401,357...38,456,454
JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:16,688,456...16,709,605
Ensembl chr 1:16,688,051...16,709,611
JBrowse link
G Maob monoamine oxidase B ISO protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:16,709,281...16,817,366
Ensembl chr  X:16,709,282...16,817,366
JBrowse link
G Mapk13 mitogen-activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr17:28,769,286...28,778,704
Ensembl chr17:28,769,297...28,780,233
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr17:28,691,342...28,748,405
Ensembl chr17:28,691,329...28,748,406
JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:30,136,451...30,246,694
Ensembl chr13:30,136,489...30,246,717
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr16:17,124,061...17,124,142
Ensembl chr16:17,124,061...17,124,142
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr18:61,649,196...61,649,258
Ensembl chr18:61,649,196...61,649,258
JBrowse link
G Mir185 microRNA 185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr16:18,327,401...18,327,465
Ensembl chr16:18,327,401...18,327,465
JBrowse link
G Mir190a microRNA 190a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 9:67,236,660...67,236,726
Ensembl chr 9:67,236,660...67,236,726
JBrowse link
G Mir218-1 microRNA 218-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424, PMID:30125006 NCBI chr 5:48,223,942...48,224,051
Ensembl chr 5:48,223,942...48,224,051
JBrowse link
G Mir24-1 microRNA 24-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr13:63,301,208...63,301,275
Ensembl chr13:63,301,208...63,301,275
JBrowse link
G Mir27b microRNA 27b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr13:63,300,712...63,300,784
Ensembl chr13:63,300,712...63,300,784
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:109,585,789...109,585,885
Ensembl chr12:109,585,789...109,585,885
JBrowse link
G Mir351 microRNA 351 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:53,053,255...53,053,353
Ensembl chr  X:53,053,255...53,053,353
JBrowse link
G Mir361 microRNA 361 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:113,074,824...113,074,893
Ensembl chr  X:113,074,824...113,074,893
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:109,740,510...109,740,577
Ensembl chr12:109,740,510...109,740,577
JBrowse link
G Mir411 microRNA 411 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:109,710,175...109,710,256
Ensembl chr12:109,710,175...109,710,256
JBrowse link
G Mir704 microRNA 704 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:47,803,576...47,803,652
Ensembl chr 6:47,803,576...47,803,652
JBrowse link
G Mir743b microRNA 743b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:66,777,256...66,777,332
Ensembl chr  X:66,777,256...66,777,332
JBrowse link
G Mir872 microRNA 872 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 4:94,665,157...94,665,237
Ensembl chr 4:94,665,157...94,665,237
JBrowse link
G Mir875 microRNA 875 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:35,660,970...35,661,047
Ensembl chr15:35,660,970...35,661,047
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr16:77,598,936...77,599,000
Ensembl chr16:77,598,936...77,599,000
JBrowse link
G Mirlet7b microRNA let7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:85,707,319...85,707,403
Ensembl chr15:85,707,319...85,707,403
JBrowse link
G Mirlet7i microRNA let7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr10:122,985,640...122,985,724
Ensembl chr10:122,985,640...122,985,724
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:21274875 RGD:8552699 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:72,513,304...72,559,735
Ensembl chr 5:72,513,301...72,559,684
JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:151,571,373...151,721,432
Ensembl chr 1:151,571,186...151,721,939
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912, PMID:20626112 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:153,503,016...153,549,714
Ensembl chr 1:153,503,015...153,550,045
JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:22461449, PMID:28337145 RGD:13439750 NCBI chr 8:107,388,225...107,403,205
Ensembl chr 8:107,388,225...107,403,206
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IDA RGD PMID:24497272 RGD:10448995 NCBI chr11:98,767,932...98,775,377
Ensembl chr11:98,767,932...98,775,333
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 7:44,549,616...44,553,968
Ensembl chr 7:44,549,616...44,553,951
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 2:91,184,061...91,202,829
Ensembl chr 2:91,184,061...91,202,834
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
severity
ISO
IMP
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)
mRNA, protein:altered expression:liver (rat)
mutant FXR-/- mouse
CTD PMID:22461449, PMID:23178280, PMID:27090119, PMID:30061734, PMID:30223280, PMID:30077711, PMID:29235094, PMID:12949728 RGD:15090804, RGD:15092071, RGD:15045612, RGD:15045597, RGD:15042872, RGD:14701031 NCBI chr10:89,454,234...89,533,645
Ensembl chr10:89,454,234...89,533,585
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr16:38,248,349...38,294,849
Ensembl chr16:38,248,323...38,294,824
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 disease_progression ISO RGD PMID:29204052 RGD:13782189 NCBI chr 1:171,213,934...171,218,845
Ensembl chr 1:171,213,970...171,220,701
JBrowse link
G Otc ornithine transcarbamylase ISO protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Pan2 PAN2 poly(A) specific ribonuclease subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr10:128,303,333...128,321,358
Ensembl chr10:128,303,335...128,321,358
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr 2:129,686,549...129,699,938
Ensembl chr 2:129,686,565...129,699,844
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit treatment ISO mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chr15:5,143,861...5,181,899
Ensembl chr15:5,143,861...5,181,899
JBrowse link
G Pygm muscle glycogen phosphorylase ISO mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr19:6,384,408...6,398,464
Ensembl chr19:6,384,399...6,398,459
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr 9:52,047,150...52,088,738
Ensembl chr 9:52,047,173...52,100,463
JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:34,344,885...34,374,991
Ensembl chr18:34,344,885...34,374,070
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:76,019,194...76,027,782
Ensembl chr11:76,019,194...76,027,782
JBrowse link
G Serpina5 serine (or cysteine) peptidase inhibitor, clade A, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr12:104,099,313...104,106,138
Ensembl chr12:104,101,113...104,106,137
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Slc10a1 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 treatment ISO mRNA:altered expression:liver (rat) RGD PMID:29655695, PMID:27090119 RGD:15090803, RGD:15090804 NCBI chr12:80,953,185...80,968,705
Ensembl chr12:80,953,183...80,968,705
JBrowse link
G Slc10a7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:78,509,323...78,734,012
Ensembl chr 8:78,509,346...78,734,003
JBrowse link
G Slc16a2 solute carrier family 16 (monocarboxylic acid transporters), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:103,697,414...103,821,988
Ensembl chr  X:103,697,414...103,821,983
JBrowse link
G Slc23a1 solute carrier family 23 (nucleobase transporters), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr18:35,604,224...35,629,845
Ensembl chr18:35,614,604...35,627,244
JBrowse link
G Slc23a2 solute carrier family 23 (nucleobase transporters), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 2:132,052,496...132,145,320
Ensembl chr 2:132,052,496...132,145,108
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:185,454,848...185,468,762
Ensembl chr 1:185,454,848...185,468,762
JBrowse link
G Slc51a solute carrier family 51, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr16:32,475,578...32,487,879
Ensembl chr16:32,474,504...32,487,879
JBrowse link
G Slc51b solute carrier family 51, beta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr 9:65,412,753...65,422,773
Ensembl chr 9:65,412,714...65,422,955
JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 6:141,907,281...141,946,962
Ensembl chr 6:141,907,282...141,946,962
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
CTD PMID:22461449, PMID:27090119 RGD:15090804 NCBI chr 6:141,805,438...141,856,284
Ensembl chr 6:141,805,440...141,856,199
JBrowse link
G Slco1b2 solute carrier organic anion transporter family, member 1b2 ISO mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr 6:141,629,452...141,686,646
Ensembl chr 6:141,629,518...141,686,646
JBrowse link
G Snai1 snail family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:167,538,195...167,542,814
Ensembl chr 2:167,538,195...167,542,814
JBrowse link
G Sorl1 sortilin-related receptor, LDLR class A repeats-containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 9:41,964,709...42,124,297
Ensembl chr 9:41,964,720...42,124,297
JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 3:108,283,974...108,361,519
Ensembl chr 3:108,284,082...108,361,511
JBrowse link
G Spint1 serine protease inhibitor, Kunitz type 1 IEP mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 2:119,237,360...119,249,535
Ensembl chr 2:119,237,362...119,249,527
JBrowse link
G Spint2 serine protease inhibitor, Kunitz type 2 IEP mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 7:29,256,330...29,282,059
Ensembl chr 7:29,256,323...29,281,912
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 5:76,974,701...76,999,935
Ensembl chr 5:76,974,683...76,999,937
JBrowse link
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr 7:45,729,981...45,759,672
Ensembl chr 7:45,729,983...45,784,669
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO RGD PMID:8707259 RGD:2290364 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr 7:65,296,165...65,527,850
Ensembl chr 7:65,296,165...65,527,781
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tmed7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:46,585,928...46,597,535
Ensembl chr18:46,560,235...46,597,535
JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr15:94,629,185...95,096,097
Ensembl chr15:94,629,232...95,096,098
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 9:104,046,587...104,063,176
Ensembl chr 9:104,046,599...104,063,134
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 treatment IEP RGD PMID:29867509 RGD:14694823 NCBI chr 1:88,211,959...88,220,002
Ensembl chr 1:88,211,959...88,218,997
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chr 3:122,931,486...122,984,900
Ensembl chr 3:122,931,493...122,984,510
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 8:106,893,640...106,923,094
Ensembl chr 8:106,893,636...106,923,088
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:74,409,384...74,435,560
Ensembl chr 1:74,409,376...74,435,559
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:109,573,521...109,611,389
Ensembl chr11:109,573,331...109,611,967
JBrowse link
G Xdh xanthine dehydrogenase ISO protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged 1 ISO
IEA
IMP
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
OMIM:118450 | OMIM:610205
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118450
DNA:insertion:exon:c.962_963insA (human)
ClinVar
MouseDO
CTD
OMIM
PMID:9207787, PMID:9207788, PMID:9585603, PMID:9700188, PMID:10213047, PMID:10220506, PMID:10533065, PMID:11058898, PMID:11139239, PMID:11152664, PMID:11157803, PMID:11180599, PMID:12022040, PMID:12239725, PMID:12244555, PMID:12297837, PMID:12442286, PMID:12497640, PMID:12649809, PMID:15358557, PMID:15712272, PMID:16575836, PMID:16875832, PMID:17241866, PMID:17720887, PMID:17949281, PMID:18660822, PMID:19058200, PMID:19948535, PMID:20301450, PMID:20437614, PMID:20586101, PMID:21532573, PMID:21752016, PMID:22040217, PMID:22382802, PMID:22487239, PMID:23891399, PMID:23956173, PMID:24033266, PMID:24748328, PMID:25260786, PMID:25525159, PMID:25676721, PMID:25741868, PMID:26076142, PMID:26548814, PMID:26760175, PMID:27256232, PMID:28372585, PMID:28492532, PMID:28695677, PMID:29187043, PMID:29783821, PMID:30074189, PMID:11745040, PMID:16875832, PMID:21714972 RGD:1580651, RGD:6482237, RGD:6482232 NCBI chr 2:137,081,451...137,116,520
Ensembl chr 2:137,081,456...137,116,644
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 chr 2:136,873,780...136,891,406
Ensembl chr 2:136,873,780...136,891,389
JBrowse link
G Notch2 notch 2 ISO ClinVar Annotator: match by OMIM:610205
ClinVar Annotator: match by term: Alagille syndrome 2
OMIM
ClinVar
PMID:16773578, PMID:24728327, PMID:25016221, PMID:25741868, PMID:16773578 RGD:1580762 NCBI chr 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
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 chr 2:136,891,213...137,081,351
Ensembl chr 2:136,891,218...137,071,950
JBrowse link
G Snap25 synaptosomal-associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 2:136,713,439...136,782,428
Ensembl chr 2:136,713,453...136,782,428
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
IEA
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
CTD
MouseDO
PMID:20190753 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO
IEA
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
ClinVar
CTD
MouseDO
PMID:25741868 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
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 chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
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, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Cholestasis, benign recurrent intrahepatic 1
DNA:missense mutation:cds:p.I661T (human)
ClinVar
OMIM
PMID:5807632, PMID:7894490, PMID:9500542, PMID:9918928, PMID:15239083, PMID:15888793, PMID:19731236, PMID:19918981, PMID:20981092, PMID:22995991, PMID:25741868, PMID:26879107, PMID:28492532, PMID:9918928 RGD:14401576 NCBI chr18:64,528,979...64,661,272
Ensembl chr18:64,528,967...64,661,267
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, sub-family B (MDR/TAP), member 11 ISO ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 OMIM
ClinVar
PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:15300568, PMID:16039748, PMID:16871584, PMID:17855769, PMID:18395098, PMID:19101985, PMID:20583290, PMID:24231640, PMID:24402531, PMID:24991443, PMID:25741868, PMID:27050426, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
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 chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Cd14 CD14 antigen disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr12:109,452,485...109,463,336
Ensembl chr12:109,452,823...109,463,336
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr10:75,561,076...75,586,193
Ensembl chr10:75,561,604...75,586,200
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:
RGD PMID:30059753, PMID:10726686 RGD:14695528, RGD:14695529 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Mir145a microRNA 145a IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr18:61,647,825...61,647,894
Ensembl chr18:61,647,825...61,647,894
JBrowse link
G Mir155 microRNA 155 ISO
IEP
miRNA:increased expression:liver RGD PMID:28355202, PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Shh sonic hedgehog disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Sox17 SRY (sex determining region Y)-box 17 IEA MouseDO NCBI chr 1:4,490,928...4,497,426
Ensembl chr 1:4,490,931...4,497,354
JBrowse link
G Spint1 serine protease inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 2:119,237,360...119,249,535
Ensembl chr 2:119,237,362...119,249,527
JBrowse link
G Spint2 serine protease inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 7:29,256,330...29,282,059
Ensembl chr 7:29,256,323...29,281,912
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
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 ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by OMIM:216360
OMIM
ClinVar
PMID:18414213, PMID:18950740, PMID:19574260, PMID:19777577, PMID:22241855, PMID:22246503, PMID:25741868, PMID:26092869, PMID:27081510, PMID:27082236, PMID:28492532 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by OMIM:216360
OMIM
ClinVar
PMID:17558407, PMID:17558409, PMID:19430481, PMID:19574260, PMID:21866095, PMID:23188109, PMID:25741868, PMID:26092869, PMID:28492532, PMID:29991045 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
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
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: COACH syndrome
DNA:missense mutations: :multiple
ClinVar Annotator: match by OMIM:216360
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2929661, PMID:8862632, PMID:10508989, PMID:12368986, PMID:17160906, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28492532, PMID:28497568, PMID:28973083, PMID:30311386, PMID:19574260, PMID:19058225 RGD:11535946, RGD:11535944 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
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 chr 6:37,529,978...37,574,921
Ensembl chr 6:37,530,173...37,568,815
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 3:18,071,944...18,243,890
Ensembl chr 3:18,071,950...18,243,338
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by OMIM:607765 OMIM
ClinVar
PMID:3470305, PMID:11067870, PMID:12679481 NCBI chr 7:127,800,609...127,803,802
Ensembl chr 7:127,800,604...127,803,802
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 chr19:24,094,496...24,225,128
Ensembl chr19:24,094,505...24,225,030
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
ClinVar Annotator: match by OMIM:235555
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8707100, PMID:12970144, PMID:15030995, PMID:20522910, PMID:21185810, PMID:25304492, PMID:25741868, PMID:28492532 NCBI chr 6:37,529,978...37,574,921
Ensembl chr 6:37,530,173...37,568,815
JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 3 OMIM
ClinVar
PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 3:18,071,944...18,243,890
Ensembl chr 3:18,071,950...18,243,338
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4 OMIM
ClinVar
PMID:9584266, PMID:10655068, PMID:12512044, PMID:15249642, PMID:18032455, PMID:20818383, PMID:20821052, PMID:21576695, PMID:25741868, PMID:28492532 NCBI chr15:10,981,756...10,996,624
Ensembl chr15:10,981,756...10,996,626
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, sub-family D (ALD), member 3 ISO
IEA
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5
OMIM:616278
ClinVar
MouseDO
OMIM
PMID:25168382 NCBI chr 3:121,758,904...121,815,302
Ensembl chr 3:121,758,774...121,815,302
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-Coenzyme A oxidase 2, branched chain ISO ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 6
ClinVar
OMIM
PMID:25741868, PMID:27647924, PMID:27884763 NCBI chr14:8,225,511...8,259,019
Ensembl chr14:8,225,511...8,259,353
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, sub-family A (ABC1), member 1 ISO mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) RGD PMID:28660384 RGD:21203516 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Abcc4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr14:118,482,692...118,707,856
Ensembl chr14:118,482,692...118,706,219
JBrowse link
G Acta2 actin, alpha 2, smooth muscle, aorta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Cd68 CD68 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:69,664,213...69,666,170
Ensembl chr11:69,664,213...69,666,153
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 3:19,693,401...19,695,396
Ensembl chr 3:19,693,401...19,695,396
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr11:116,645,595...116,654,504
Ensembl chr11:116,645,595...116,654,313
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 1:74,713,148...74,737,897
Ensembl chr 1:74,713,574...74,737,892
JBrowse link
G Cyp7a1 cytochrome P450, family 7, subfamily a, polypeptide 1 treatment ISO mRNA:decreased expression:liver (rat)
mRNA:decreased expression:liver, nucleus (rat)
RGD PMID:29360226, PMID:28660384 RGD:14995480, RGD:21203516 NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
JBrowse link
G Cyp8b1 cytochrome P450, family 8, subfamily b, polypeptide 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 9:121,914,356...121,916,305
Ensembl chr 9:121,914,356...121,916,305
JBrowse link
G Fos FBJ osteosarcoma oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:85,473,890...85,477,274
Ensembl chr12:85,473,890...85,477,273
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
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 chr 5:114,948,980...114,971,062
Ensembl chr 5:114,948,980...114,971,094
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Jun jun proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 4:95,049,036...95,052,222
Ensembl chr 4:95,049,034...95,052,222
JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:21,229,730...21,239,332
Ensembl chr 9:21,229,730...21,239,361
JBrowse link
G Lgals1 lectin, galactose binding, soluble 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr15:78,926,725...78,930,465
Ensembl chr15:78,926,725...78,930,465
JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 4:31,963,492...32,023,470
Ensembl chr 4:31,964,097...32,023,467
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:16,983,382...17,047,453
Ensembl chr16:16,983,382...17,047,453
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:28,691,342...28,748,405
Ensembl chr17:28,691,329...28,748,406
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:126,759,626...126,765,816
Ensembl chr 7:126,759,601...126,765,819
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:49,846,728...49,886,421
Ensembl chr11:49,846,751...49,886,421
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:87,793,784...87,804,412
Ensembl chr11:87,793,581...87,804,413
JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:119,335,934...119,340,018
Ensembl chr 9:119,335,934...119,341,411
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087, PMID:31900718 RGD:21201303 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
disease_progression
ISO mRNA:increased expression:liver (rat)
protein:increased expression:liver (rat)
human gene in mouse model
RGD PMID:14623915, PMID:29360226, PMID:29138817, PMID:22057115 RGD:1625205, RGD:14995480, RGD:15042871, RGD:14928333 NCBI chr10:89,454,234...89,533,645
Ensembl chr10:89,454,234...89,533,585
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chr18:61,045,127...61,085,067
Ensembl chr18:61,045,150...61,085,061
JBrowse link
G Ptn pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 6:36,714,924...36,810,179
Ensembl chr 6:36,714,929...36,810,220
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
G Setd7 SET domain containing (lysine methyltransferase) 7 treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chr 3:51,515,318...51,560,823
Ensembl chr 3:51,515,319...51,560,879
JBrowse link
G Slc22a1 solute carrier family 22 (organic cation transporter), member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr17:12,648,874...12,675,838
Ensembl chr17:12,648,869...12,675,829
JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr17:12,584,189...12,628,489
Ensembl chr17:12,584,132...12,628,488
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735
JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:118,301,061...118,355,411
Ensembl chr11:118,301,069...118,355,740
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1-like (yeast) ISO
IEA
ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
MouseDO
PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19285991, PMID:19389488, PMID:19508421, PMID:20518024, PMID:20727375, PMID:21274865, PMID:22277166, PMID:22310368, PMID:23892085, PMID:24033266, PMID:24236502, PMID:24655110, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:26489029, PMID:27959697, PMID:28105683, PMID:28322498, PMID:28492532, PMID:28496993, PMID:29090881, PMID:31435670 NCBI chr 1:74,588,289...74,592,443
Ensembl chr 1:74,588,289...74,592,443
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868, PMID:32313153 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1, erythroid severity ISO
IAGP
IMP
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar PMID:8640229, PMID:14671619, PMID:9054656, PMID:23390527, PMID:19179303, PMID:23934996, PMID:21193012 RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr 8:22,974,836...23,150,501
Ensembl chr 8:22,974,844...23,150,497
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:109,593,244...109,608,699
Ensembl chr 8:109,591,343...109,608,673
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) IAGP
IEA
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
JBrowse link
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
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)
ClinVar
CTD
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IAGP
DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
JBrowse link
G Sptb spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532, PMID:19538529 RGD:11059526 NCBI chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 (beta) IEA OMIM:182900 MouseDO NCBI chr 6:86,028,681...86,124,409
Ensembl chr 6:86,028,681...86,124,409
JBrowse link
G Ank1 ankyrin 1, erythroid ISO
IEA
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
OMIM:182900
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
MouseDO
PMID:1486040, PMID:7883994, PMID:8640229, PMID:9590147, PMID:11102985, PMID:11167760, PMID:12899723, PMID:15071790, PMID:16037067, PMID:17327413, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:22,974,836...23,150,501
Ensembl chr 8:22,974,844...23,150,497
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 IEA OMIM:182900 MouseDO NCBI chr 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IEA OMIM:182900 MouseDO NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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 ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736, PMID:3654760, PMID:6215583, PMID:7883966, PMID:8102379, PMID:8844207, PMID:9414314, PMID:9714702, PMID:11703334, PMID:19538529, PMID:25741868 NCBI chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IEA
ClinVar Annotator: match by term: Spherocytosis type 3
OMIM:270970
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
MouseDO
PMID:1638030, PMID:3785322, PMID:8081008, PMID:8370581, PMID:8941647, PMID:15071791, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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 (anion exchanger), member 1 ISO
IEA
ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
MouseDO
PMID:893429, PMID:1378323, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:7530501, PMID:7812009, PMID:8011524, PMID:8206915, PMID:8282779, PMID:8343110, PMID:8471774, PMID:8547122, PMID:8567957, PMID:8608262, PMID:8704215, PMID:9207478, PMID:9312167, PMID:9734643, PMID:9973643, PMID:10745622, PMID:10942416, PMID:11155072, PMID:11380459, PMID:16227998, PMID:19229254, PMID:21039340, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis type 5
ClinVar Annotator: match by OMIM:612690
OMIM
ClinVar
PMID:1558976, PMID:2386772, PMID:7772513, PMID:7803799, PMID:8319790, PMID:8528207, PMID:10406914, PMID:12176912, PMID:19508687, PMID:25741868, PMID:28492532 NCBI chr 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
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, sub-family B (MDR/TAP), member 11 susceptibility ISO
IMP
ClinVar Annotator: match by term: Intrahepatic Cholestasis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9806540, PMID:12370274, PMID:14672610, PMID:15791618, PMID:17855769, PMID:18049162, PMID:18395098, PMID:19101985, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:28492532, PMID:30311386, PMID:9806540, PMID:22619174 RGD:1598583, RGD:14688049 NCBI chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 treatment IMP
ISO
IEA
ClinVar Annotator: match by term: Intrahepatic Cholestasis
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878
ClinVar
MouseDO
PMID:30311386, PMID:8106172, PMID:30935993, PMID:18781607 RGD:1300325, RGD:14695045, RGD:14695044 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Ap1s1 adaptor protein complex AP-1, sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr 5:137,034,993...137,046,108
Ensembl chr 5:137,034,993...137,046,135
JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:18379143, PMID:9500542 RGD:1599397 NCBI chr18:64,528,979...64,661,272
Ensembl chr18:64,528,967...64,661,267
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Cxcl2 chemokine (C-X-C motif) ligand 2 ISO mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr 5:90,903,899...90,905,938
Ensembl chr 5:90,903,871...90,905,938
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP RGD PMID:29404441 RGD:14700873 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083, PMID:22094456 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr19:40,612,366...40,741,602
Ensembl chr19:40,612,366...40,741,602
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis ClinVar PMID:30311386 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO CBAS1, OMIM:607765 RGD PMID:12679481 RGD:1599971 NCBI chr 7:127,800,609...127,803,802
Ensembl chr 7:127,800,604...127,803,802
JBrowse link
G Maf avian musculoaponeurotic fibrosarcoma oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr 8:115,703,253...115,706,894
Ensembl chr 8:115,682,942...115,707,794
JBrowse link
G Mafg v-maf musculoaponeurotic fibrosarcoma oncogene family, protein G (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr11:120,625,117...120,634,955
Ensembl chr11:120,625,117...120,633,600
JBrowse link
G Mir27a microRNA 27a IEP mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr 8:84,208,672...84,208,758
Ensembl chr 8:84,208,672...84,208,758
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chr 4:133,553,376...133,556,686
Ensembl chr 4:133,553,376...133,556,536
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chr10:89,454,234...89,533,645
Ensembl chr10:89,454,234...89,533,585
JBrowse link
G Slc22a1 solute carrier family 22 (organic cation transporter), member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr17:12,648,874...12,675,838
Ensembl chr17:12,648,869...12,675,829
JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr17:12,584,189...12,628,489
Ensembl chr17:12,584,132...12,628,488
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr19:24,094,496...24,225,128
Ensembl chr19:24,094,505...24,225,030
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, sub-family B (MDR/TAP), member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 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 chr18:64,528,979...64,661,272
Ensembl chr18:64,528,967...64,661,267
JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:37,936,971...37,955,015
Ensembl chr18:37,935,844...37,955,016
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
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, class I, type 8B, member 1 ISO OMIM NCBI chr18:64,528,979...64,661,272
Ensembl chr18:64,528,967...64,661,267
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, sub-family B (MDR/TAP), 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 chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3
ClinVar Annotator: match by OMIM:614972
OMIM
ClinVar
PMID:8666348, PMID:9419367, PMID:9923886, PMID:10767346, PMID:11313316, PMID:12891548, PMID:14999697, PMID:15077010, PMID:16696816, PMID:16763017, PMID:16890614, PMID:17726488, PMID:18083082, PMID:18482588, PMID:19018976, PMID:19490418, PMID:19584064, PMID:19840255, PMID:20849526, PMID:21119540, PMID:22331132, PMID:23022423, PMID:23217326, PMID:23533021, PMID:23820649, PMID:24033266, PMID:24381502, PMID:24806754, PMID:24914347, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26324191, PMID:26474921, PMID:26699824, PMID:26900700, PMID:28492532, PMID:28776642, PMID:32581362 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
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 OMIM:604901
ClinVar Annotator: match by term: North american indian childhood cirrhosis
ClinVar
OMIM
PMID:12417987, PMID:22916032, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr 8:106,893,640...106,923,094
Ensembl chr 8:106,893,636...106,923,088
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, sub-family B (MDR/TAP), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 7:110,627,657...110,629,820
Ensembl chr 7:110,627,661...110,629,820
JBrowse link
G Alb albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd14 CD14 antigen ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cfh complement component factor h ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:140,085,855...140,183,411
Ensembl chr 1:140,084,708...140,183,764
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 9:44,336,348...44,344,228
Ensembl chr 9:44,336,339...44,344,228
JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 2:158,306,493...158,332,852
Ensembl chr 2:158,306,493...158,332,852
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr 2:132,249,286...132,253,180
Ensembl chr 2:132,249,162...132,253,314
JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP RGD PMID:29366780 RGD:15090858 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO RGD PMID:19632092 RGD:7204429 NCBI chr 7:100,493,337...100,499,629
Ensembl chr 7:100,493,337...100,502,020
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, sub-family A (ABC1), member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD PMID:20040336, PMID:30682444, PMID:18671305 RGD:14694982 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD PMID:15542527, PMID:15770136 RGD:14700810 NCBI chr19:43,782,308...43,838,332
Ensembl chr19:43,782,192...43,840,740
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 6:58,584,491...58,692,451
Ensembl chr 6:58,584,523...58,695,676
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ace2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:164,139,342...164,188,418
Ensembl chr  X:164,139,332...164,188,420
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD PMID:12126966, PMID:15770052 RGD:14995336 NCBI chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 9:44,981,769...44,987,052
Ensembl chr 9:44,981,786...44,987,339
JBrowse link
G Cd80 CD80 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:38,457,430...38,495,958
Ensembl chr16:38,455,561...38,496,335
JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:104,101,613...104,144,504
Ensembl chr 8:104,101,625...104,144,511
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 2:131,177,289...131,180,067
Ensembl chr 2:131,175,182...131,180,067
JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:10,545,309...10,744,878
Ensembl chr16:10,545,339...10,744,878
JBrowse link
G Col1a1 collagen, type I, alpha 1 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 7:81,347,026...81,458,001
Ensembl chr 7:81,347,026...81,455,465
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr11:31,870,104...31,935,635
Ensembl chr11:31,872,211...31,935,634
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) (human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:49A>G(human)
RGD PMID:10782900, PMID:16584111, PMID:21594562, PMID:17482523 RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Cxcl9 chemokine (C-X-C motif) ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:92,321,331...92,328,079
Ensembl chr 5:92,321,347...92,328,079
JBrowse link
G Cxcr5 chemokine (C-X-C motif) receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 9:44,511,787...44,526,444
Ensembl chr 9:44,511,787...44,561,877
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr11:116,645,595...116,654,504
Ensembl chr11:116,645,595...116,654,313
JBrowse link
G Dag1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
JBrowse link
G Dennd1b DENN/MADD domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 1:138,963,709...139,176,043
Ensembl chr 1:138,963,435...139,178,960
JBrowse link
G Dnase1 deoxyribonuclease I ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr16:4,036,958...4,040,024
Ensembl chr16:4,036,942...4,040,024
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15651265, PMID:15651265 RGD:9685530 NCBI chr 2:25,395,874...25,401,323
Ensembl chr 2:25,395,874...25,401,321
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645, PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
JBrowse link
G Hhip Hedgehog-interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr 8:79,965,850...80,058,060
Ensembl chr 8:79,965,851...80,058,006
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment IMP associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr11:7,197,787...7,202,546
Ensembl chr11:7,197,782...7,202,546
JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il12a interleukin 12a susceptibility
treatment
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNP: :rs62270414(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD PMID:20639880, PMID:19458352, PMID:23433321, PMID:27175695 RGD:25440500, RGD:25440498, RGD:25440489 NCBI chr 3:68,690,644...68,698,550
Ensembl chr 3:68,690,644...68,698,547
JBrowse link
G Il12b interleukin 12b ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 susceptibility IEP RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr 8:70,808,360...70,823,542
Ensembl chr 8:70,808,449...70,821,424
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr15:9,506,159...9,529,941
Ensembl chr15:9,505,788...9,530,176
JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:21,229,730...21,239,332
Ensembl chr 9:21,229,730...21,239,361
JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr15:102,028,216...102,032,026
Ensembl chr15:102,028,180...102,032,027
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr15:101,412,403...101,427,806
Ensembl chr15:101,411,043...101,430,313
JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr 1:181,815,315...181,842,401
Ensembl chr 1:181,815,335...181,843,046
JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lepr leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:52,516,060...52,529,867
Ensembl chr18:52,516,067...52,529,867
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr14:69,608,692...69,695,834
Ensembl chr14:69,609,068...69,695,834
JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 IEA OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr11:103,219,764...103,267,401
Ensembl chr11:103,219,762...103,267,472
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:28,691,342...28,748,405
Ensembl chr17:28,691,329...28,748,406
JBrowse link
G Mas1 MAS1 oncogene ISO RGD PMID:17532087 RGD:9685452 NCBI chr17:12,838,841...12,868,150
Ensembl chr17:12,841,079...12,868,143
JBrowse link
G Met met proto-oncogene severity IMP RGD PMID:19208365 RGD:14694826 NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
G Mir21a microRNA 21a severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr11:86,584,067...86,584,158
Ensembl chr11:86,584,067...86,584,158
JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:96,242,817...96,242,926
Ensembl chr  X:96,242,817...96,242,926
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 4:154,869,585...154,895,530
Ensembl chr 4:154,869,585...154,895,528
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Muc2 mucin 2 ISO RGD PMID:18507686 RGD:2324885 NCBI chr 7:141,690,340...141,754,691
Ensembl chr 7:141,690,340...141,754,693
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 3:135,584,655...135,691,969
Ensembl chr 3:135,584,655...135,691,547
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:30026087, PMID:21903766 RGD:5509055 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
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 chr10:89,454,234...89,533,645
Ensembl chr10:89,454,234...89,533,585
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr18:39,410,545...39,519,421
Ensembl chr18:39,410,545...39,519,421
JBrowse link
G Nsa2 NSA2 ribosome biogenesis homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr13:97,129,427...97,137,926
Ensembl chr13:97,129,424...97,137,937
JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 7:44,816,088...44,831,836
Ensembl chr 7:44,816,088...44,830,812
JBrowse link
G Pde5a phosphodiesterase 5A, cGMP-specific ISO RGD PMID:17610866 RGD:2314466 NCBI chr 3:122,729,158...122,859,374
Ensembl chr 3:122,728,947...122,859,374
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
G Ren1 renin 1 structural ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr 1:133,350,674...133,360,320
Ensembl chr 1:133,350,510...133,360,325
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr11:86,498,869...86,544,885
Ensembl chr11:86,498,871...86,544,805
JBrowse link
G Slc4a2 solute carrier family 4 (anion exchanger), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 5:24,423,761...24,440,947
Ensembl chr 5:24,423,837...24,440,950
JBrowse link
G Slc51a solute carrier family 51, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr16:32,475,578...32,487,879
Ensembl chr16:32,474,504...32,487,879
JBrowse link
G Slc51b solute carrier family 51, beta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 9:65,412,753...65,422,773
Ensembl chr 9:65,412,714...65,422,955
JBrowse link
G Slco1c1 solute carrier organic anion transporter family, member 1c1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 6:141,524,354...141,570,177
Ensembl chr 6:141,524,368...141,570,177
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Spib Spi-B transcription factor (Spi-1/PU.1 related) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 7:44,525,995...44,532,087
Ensembl chr 7:44,525,993...44,532,071
JBrowse link
G Spint1 serine protease inhibitor, Kunitz type 1 IEP mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 2:119,237,360...119,249,535
Ensembl chr 2:119,237,362...119,249,527
JBrowse link
G Spint2 serine protease inhibitor, Kunitz type 2 IEP mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 7:29,256,330...29,282,059
Ensembl chr 7:29,256,323...29,281,912
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNPs, haplotypes:multiple
CTD PMID:21399635, PMID:26084578, PMID:28395724, PMID:24648611, PMID:24648611 RGD:25671421, RGD:25671416, RGD:25671415, RGD:25671415 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
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 chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 9:21,104,068...21,131,393
Ensembl chr 9:21,104,068...21,131,243
JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr17:37,193,892...37,196,101
Ensembl chr17:37,193,892...37,196,095
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 8:106,893,640...106,923,094
Ensembl chr 8:106,893,636...106,923,088
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :
GAD
RGD
PMID:15118671, PMID:15683428, PMID:19376604 RGD:1331525, RGD:14402024, RGD:14401750 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:
RGD PMID:26627607, PMID:26615570 RGD:11528851, RGD:11538286 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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, sub-family B (MDR/TAP), 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 chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:64,528,979...64,661,272
Ensembl chr18:64,528,967...64,661,267
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, sub-family B (MDR/TAP), member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), 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 chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Byler disease
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
OMIM
ClinVar
PMID:1774530, PMID:5762004, PMID:5807632, PMID:9500542, PMID:9918928, PMID:11093741, PMID:12149765, PMID:14976163, PMID:15239083, PMID:15317749, PMID:15657619, PMID:15888793, PMID:16374853, PMID:18937870, PMID:19479804, PMID:19731236, PMID:19918981, PMID:20232290, PMID:20852622, PMID:20981092, PMID:22995991, PMID:23060447, PMID:24033266, PMID:24260417, PMID:25737299, PMID:25741868, PMID:26126923, PMID:26594346, PMID:26756876, PMID:26879107, PMID:28045770, PMID:28492532 NCBI chr18:64,528,979...64,661,272
Ensembl chr18:64,528,967...64,661,267
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 chr10:89,454,234...89,533,645
Ensembl chr10:89,454,234...89,533,585
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, sub-family B (MDR/TAP), member 11 disease_progression ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis 2
ClinVar Annotator: match by OMIM:601847
OMIM
ClinVar
PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:14672610, PMID:14999697, PMID:15077010, PMID:15300568, PMID:15791618, PMID:16039748, PMID:16763017, PMID:16871584, PMID:17855769, PMID:18395098, PMID:18692205, PMID:18798335, PMID:19101985, PMID:19571440, PMID:20010382, PMID:20232290, PMID:20583290, PMID:20799350, PMID:22795478, PMID:23022423, PMID:23279303, PMID:23684896, PMID:23750872, PMID:24115678, PMID:24231640, PMID:24402531, PMID:24627769, PMID:24969679, PMID:24991443, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:27050426, PMID:27153395, PMID:27368585, PMID:28492532, PMID:30311386, PMID:31319225, PMID:32581362, PMID:23758865, PMID:20447715 RGD:14688048, RGD:14402418 NCBI chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 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 chr18:64,528,979...64,661,272
Ensembl chr18:64,528,967...64,661,267
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, sub-family B (MDR/TAP), member 4 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:602347
OMIM
ClinVar
CTD
PMID:8666348, PMID:9419367, PMID:9923886, PMID:11313316, PMID:12891548, PMID:14999697, PMID:15077010, PMID:16696816, PMID:16763017, PMID:16890614, PMID:17726488, PMID:18083082, PMID:18482588, PMID:19018976, PMID:19490418, PMID:19584064, PMID:19840255, PMID:20849526, PMID:21119540, PMID:22184139, PMID:22331132, PMID:23022423, PMID:23217326, PMID:23533021, PMID:23820649, PMID:24033266, PMID:24381502, PMID:24806754, PMID:24914347, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26324191, PMID:26474921, PMID:26699824, PMID:26900700, PMID:28492532, PMID:28552422, PMID:28776642, PMID:31319225, PMID:32581362 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 4 OMIM
ClinVar
PMID:24614073, PMID:25741868, PMID:25921221 NCBI chr19:24,094,496...24,225,128
Ensembl chr19:24,094,505...24,225,030
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 NCBI chr 3:122,931,486...122,984,900
Ensembl chr 3:122,931,493...122,984,510
JBrowse link
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 ClinVar
OMIM
PMID:21633855, PMID:25741868, PMID:26888176 NCBI chr10:89,454,234...89,533,645
Ensembl chr10:89,454,234...89,533,585
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar
PMID:20522425, PMID:25741868 NCBI chr 1:181,815,315...181,842,401
Ensembl chr 1:181,815,335...181,843,046
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      gastrointestinal system disease 4354
        biliary tract disease 444
          bile duct disease 413
            cholestasis 317
              ARC syndrome + 2
              Aagenaes syndrome 0
              COACH syndrome 3
              Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
              Cholesterol Pneumonia 0
              GRACILE syndrome 2
              Hardikar Syndrome 0
              Lutz Richner Landolt Syndrome 0
              Mirizzi Syndrome 0
              biliary atresia + 18
              congenital bile acid synthesis defect + 7
              extrahepatic cholestasis 50
              intrahepatic cholestasis + 124
              obstructive jaundice + 22
Path 2
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      gastrointestinal system disease 4354
        hepatobiliary disease 2478
          biliary tract disease 444
            bile duct disease 413
              cholestasis 317
                ARC syndrome + 2
                Aagenaes syndrome 0
                COACH syndrome 3
                Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
                Cholesterol Pneumonia 0
                GRACILE syndrome 2
                Hardikar Syndrome 0
                Lutz Richner Landolt Syndrome 0
                Mirizzi Syndrome 0
                biliary atresia + 18
                congenital bile acid synthesis defect + 7
                extrahepatic cholestasis 50
                intrahepatic cholestasis + 124
                obstructive jaundice + 22
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.