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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 treatment
susceptibility
IDA
IEP
ISO
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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP RGD PMID:11680581 RGD:1598589 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 IEP
ISO
ISS
DNA:mutations: : MouseDO PMID:11680581, PMID:26324191 RGD:1598589, RGD:11565494 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment
disease_progression
IAGP
IEP
ISO
IMP
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:12702498, PMID:27090119, PMID:17009103, PMID:15057744, PMID:15057744, PMID:16037978 RGD:1598571, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598614 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP
ISO
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:22461449, PMID:18096675, PMID:23486593 RGD:2301060, RGD:11535162 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 treatment IEP protein:altered expression:kidney, liver RGD PMID:15030973, PMID:30223280 RGD:2301085, RGD:15045612 NCBI chr15:103,695,415...103,927,980
Ensembl chr15:103,696,557...103,927,592
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 IEP RGD PMID:16764892 RGD:1598662 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 IEP RGD PMID:16764892 RGD:1598662 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver (rat) RGD PMID:30458228 RGD:25671450 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 IEP mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide IEP mRNA, protein:decreased expression:liver RGD PMID:19806079 RGD:5129088 NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alb albumin ISO RGD PMID:6431134 RGD:11035297 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:61,382,351...61,387,359
Ensembl chr 5:61,382,351...61,387,358
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 treatment IEP RGD PMID:30223280 RGD:15045612 NCBI chr 4:123,516,553...123,564,067
Ensembl chr 4:123,516,788...123,557,501
JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:16,910,043...16,929,465
Ensembl chr 1:16,910,069...16,930,481
JBrowse link
G Apoc3 apolipoprotein C3 IEP RGD PMID:17201892 RGD:10054045 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO associated with Pancreatic Neoplasms;protein:increased expression:plasma RGD PMID:19055369 RGD:2317548 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arg1 arginase 1 IEP protein:altered activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like IEP mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bex4 brain expressed, X-linked 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131
G Blvra biliverdin reductase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr11:16,873,642...16,889,100
Ensembl chr11:16,873,646...16,889,201
JBrowse link
G Cadps2 calcium dependent secretion activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 4:50,326,447...50,861,161
Ensembl chr 4:50,326,442...50,860,756
JBrowse link
G Cat catalase IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:27989131, PMID:21339256 RGD:5130873 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Cd14 CD14 molecule IEP RGD PMID:22511970 RGD:7183752 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd44 CD44 molecule (Indian blood group) IEP protein:decreased expression:jejunum, ileum RGD PMID:16804311 RGD:2289372 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cftr CF transmembrane conductance regulator IEP mRNA,Protein:increased expression RGD PMID:15605366 RGD:1599598 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Clock clock circadian regulator IEP mRNA:increased expression:cholangiocyte RGD PMID:21757639 RGD:10043349 NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO
IEP
IDA
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:29523470 RGD:14401716 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with Chronic Hepatitis C; protein:increased expression:serum: RGD PMID:30507970 RGD:27095896 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15795599 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 7:99,142,431...99,183,540
Ensembl chr 7:99,142,450...99,181,783
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr12:11,641,500...11,677,818
Ensembl chr12:11,655,402...11,733,136
JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr12:11,053,888...11,082,742
Ensembl chr12:11,655,402...11,733,136
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:9797378, PMID:22461449, PMID:29655695 RGD:15090803 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9802883 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:164,113,459...164,143,818
Ensembl chr 1:164,113,459...164,143,818
JBrowse link
G Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 6:64,165,913...64,170,122
Ensembl chr 6:64,165,913...64,170,151
JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr20:26,893,139...26,913,041
Ensembl chr20:26,893,016...26,913,016
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eng endoglin IEP protein:increased expression:liver (rat) RGD PMID:21146604 RGD:7257529 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:115,314,890...115,352,871
Ensembl chr14:115,314,890...115,352,562
JBrowse link
G F2rl3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr16:18,817,797...18,819,790
Ensembl chr16:18,814,622...18,819,833
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP RGD PMID:18802767 RGD:2307352 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ghr growth hormone receptor ISO mRNA,protein:decreased expression:liver, skeletal muscle: RGD PMID:15604202 RGD:11567216 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment IDA RGD PMID:25932098 RGD:14701043 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment IEP RGD PMID:23960717 RGD:10401941 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:17,198,957...17,208,456
Ensembl chr 9:17,198,957...17,209,220
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr16:7,720,047...7,758,119
Ensembl chr16:7,714,465...7,758,189
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:200,785,492...200,808,868
Ensembl chr 2:200,778,122...200,808,857
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:261,291,742...261,319,743
Ensembl chr 1:261,291,870...261,318,984
JBrowse link
G Hp haptoglobin IEP mRNA:increased expression:liver RGD PMID:12940443 RGD:1626374 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein IEP protein:increased expression:liver, nucleus (rat) RGD PMID:16628634 RGD:9686088 NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:16,692,557...16,695,126
Ensembl chr17:16,692,557...16,695,126
JBrowse link
G Igf1 insulin-like growth factor 1 IEP
ISO
CTD Direct Evidence: therapeutic CTD PMID:12826230, PMID:18607346 RGD:10046052 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1a interleukin 1 alpha IEP protein:increased expression:liver RGD PMID:19535096 RGD:2311076 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:29698570 RGD:14928214 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 IEP RGD PMID:20031157 RGD:2317270 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461449 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 1:243,201,073...243,398,531
Ensembl chr 1:243,276,403...243,398,536
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO mRNA:decreased expression:liver (mouse) RGD PMID:21330447 RGD:9588602 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118
G LOC498368 similar to RIKEN cDNA 0610040J01 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr14:46,050,752...46,134,770
Ensembl chr14:46,050,750...46,054,022
JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Maob monoamine oxidase B IEP protein:altered activity:hypothalamus (rat) RGD PMID:18802767 RGD:2307352 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Mapk13 mitogen activated protein kinase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:6,018,374...6,027,467
Ensembl chr20:6,018,374...6,027,473
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mboat1 membrane bound O-acyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr17:36,061,775...36,177,457
Ensembl chr17:36,061,775...36,177,457
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
JBrowse link
G Mir185 microRNA 185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:86,812,702...86,812,781
Ensembl chr11:86,812,702...86,812,781
JBrowse link
G Mir190 microRNA 190 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 8:73,030,047...73,030,131
Ensembl chr 8:73,030,047...73,030,131
JBrowse link
G Mir27b microRNA 27b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr17:823,461...823,557
Ensembl chr17:823,461...823,557
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,705,920...133,706,016
Ensembl chr 6:133,705,920...133,706,016
JBrowse link
G Mir361 microRNA 361 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:84,708,911...84,708,980
Ensembl chr  X:84,708,911...84,708,980
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,890,690...133,890,761
Ensembl chr 6:133,890,646...133,890,779
JBrowse link
G Mir411 microRNA 411 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,858,849...133,858,924
Ensembl chr 6:133,858,844...133,858,939
JBrowse link
G Mir875 microRNA 875 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7b microRNA let-7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:126,590,627...126,590,711
Ensembl chr 7:126,590,627...126,590,711
JBrowse link
G Mirlet7i microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:66,802,731...66,802,815
Ensembl chr 7:66,802,732...66,802,821
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:21274875 RGD:8552699 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20977460 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfxl1 nuclear transcription factor, X-box binding-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:38,192,462...38,233,852
Ensembl chr14:38,192,446...38,233,852
JBrowse link
G Niban1 niban apoptosis regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:68,949,665...69,101,600
Ensembl chr13:68,949,665...69,101,588
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612912, PMID:20626112 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased activity:liver (rat) RGD PMID:11352814 RGD:7775033 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:22461449, PMID:28337145 RGD:13439750 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17256725 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
severity
ISO
IEP
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 chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 disease_progression IEP RGD PMID:29204052 RGD:13782189 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
JBrowse link
G Otc ornithine transcarbamylase IEP protein:decreased activity:liver (rat) RGD PMID:15916970 RGD:4143230 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:2,717,021...2,736,541
Ensembl chr 7:2,718,700...2,736,157
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP mRNA,protein:increased expression:cholangiocyte, bible duct: RGD PMID:10424289 RGD:10449495 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919318 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 treatment IEP mRNA:altered expression:liver (rat) RGD PMID:27090119 RGD:15090804 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Pygm glycogen phosphorylase, muscle associated IDA mRNA:decreased expression:liver RGD PMID:11804660 RGD:1599990 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17681005 NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
G Reep5 receptor accessory protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:27,128,462...27,159,693
Ensembl chr18:27,128,464...27,159,693
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Rflnb refilin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:64,196,103...64,202,380
Ensembl chr10:64,196,127...64,202,380
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4117022 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpina5 serpin family A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 6:127,753,152...127,772,403
Ensembl chr 6:127,766,470...127,772,420
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc10a1 solute carrier family 10 member 1 treatment IEP mRNA:altered expression:liver (rat) RGD PMID:29655695, PMID:27090119 RGD:15090803, RGD:15090804 NCBI chr 6:104,617,730...104,631,355
Ensembl chr 6:104,617,730...104,631,355
JBrowse link
G Slc10a7 solute carrier family 10, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr19:32,857,984...33,081,359
Ensembl chr19:32,855,343...33,080,998
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr18:28,413,910...28,428,133
Ensembl chr18:28,414,009...28,428,117
JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18706437 NCBI chr 3:124,632,491...124,842,225
Ensembl chr 3:124,632,492...124,724,252
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr11:71,533,078...71,547,476
Ensembl chr11:71,533,078...71,547,476
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920, PMID:22461449 NCBI chr 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)
CTD PMID:22461449, PMID:27090119 RGD:15090804 NCBI chr 4:175,969,549...176,026,227
Ensembl chr 4:175,969,549...176,026,163
JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 IEP mRNA, protein:increased expression:hepatocyte RGD PMID:17916651 RGD:2303109 NCBI chr 4:175,814,118...175,881,775
Ensembl chr 4:175,814,118...175,881,768
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:46,228,077...46,287,171 JBrowse link
G Sort1 sortilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28453831 NCBI chr 2:211,078,092...211,156,312
Ensembl chr 2:211,078,334...211,156,312
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr14:33,447,583...33,453,788 JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27052460 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:8707259 RGD:2290364 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tjp1 tight junction protein 1 IEP protein:increased expression:liver RGD PMID:18197414 RGD:2325141 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tmed7 transmembrane p24 trafficking protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr18:40,579,182...40,586,260
Ensembl chr18:40,579,182...40,586,260
JBrowse link
G Tmem117 transmembrane protein 117 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 7:135,880,294...136,403,012
Ensembl chr 7:136,182,224...136,403,012
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20626112 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26881866 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:29867509 RGD:14694823 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis ClinVar PMID:25741868 NCBI chr 2:227,098,795...227,160,385
Ensembl chr 2:227,098,795...227,160,379
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr19:39,087,995...39,116,124
Ensembl chr19:39,087,990...39,116,125
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224055 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vil1 villin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr 9:81,689,802...81,717,623
Ensembl chr 9:81,689,802...81,717,621
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27989131 NCBI chr10:97,859,730...97,896,949
Ensembl chr10:97,859,727...97,896,525
JBrowse link
G Xdh xanthine dehydrogenase IEP protein:alternative form:liver RGD PMID:10898233 RGD:13209135 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118450
DNA:insertion:exon:c.962_963insA (human)
ClinVar
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 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
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 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Notch2 notch receptor 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 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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 3:129,884,871...130,069,371
Ensembl chr 3:129,885,826...130,069,390
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID: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 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: 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 chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
benign recurrent intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 OMIM
ClinVar
PMID: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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Mir145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:liver RGD PMID:28355202, PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Sox17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:16453322, PMID:18054307, PMID:21623382, PMID:21937992, PMID:25525159, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
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 chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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 chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
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 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
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 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 3 OMIM
ClinVar
PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
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 chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 ClinVar
OMIM
PMID:25168382 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: 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 chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470
JBrowse link
extrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 IEP mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) RGD PMID:28660384 RGD:21203516 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 treatment IEP mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr15:103,695,415...103,927,980
Ensembl chr15:103,696,557...103,927,592
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Crh corticotropin releasing hormone IEP protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 treatment IEP mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 treatment IEP mRNA:decreased expression:liver (rat)
mRNA:decreased expression:liver, nucleus (rat)
RGD PMID:29360226, PMID:28660384 RGD:14995480, RGD:21203516 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 treatment IEP mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Gjb1 gap junction protein, beta 1 IEP mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP RGD PMID:7762611 RGD:7349397 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IEP mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hnf1a HNF1 homeobox A IEP mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) RGD PMID:15723437 RGD:14700989 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Lgals1 galectin 1 IEP mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:30026087, PMID:31900718 RGD:21201303 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
disease_progression
IDA
IEP
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 chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IMP RGD PMID:18466260 RGD:10449503 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Ptn pleiotrophin IEP mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase treatment IMP RGD PMID:24097032 RGD:9491846 NCBI chr 2:140,576,188...140,618,405
Ensembl chr 2:140,576,188...140,618,405
JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
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 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA: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 chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Klf1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) 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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO 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 chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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 chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
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 ISS OMIM:182900 MouseDO NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
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 chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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 chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
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 chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 susceptibility ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis
CTD Direct Evidence: marker/mechanism
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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO
ISS
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr12:22,665,128...22,676,079
Ensembl chr12:22,665,112...22,676,075
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:18379143, PMID:9500542 RGD:1599397 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083, PMID:22094456 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Intrahepatic Cholestasis ClinVar PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
G Maf MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr10:109,802,877...109,811,476
Ensembl chr10:109,806,159...109,811,323
JBrowse link
G Mir27a microRNA 27a ISO mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr19:25,318,736...25,318,822
Ensembl chr19:25,318,736...25,318,822
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 IEP mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chr 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 IDA RGD PMID:15644430 RGD:1625202 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis of pregnancy
CTD
ClinVar
PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
intrahepatic cholestasis of pregnancy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:15300568, PMID:16039748, PMID:16871584, PMID:17855769, PMID:18395098, PMID:19101985, PMID:20232290, PMID:20583290, PMID:23022423, PMID:23279303, PMID:23750872, PMID:24231640, PMID:24402531, PMID:24991443, PMID:25741868, PMID:27050426, PMID:27153395, PMID:28492532, PMID:32581362 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B 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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: North american indian childhood cirrhosis OMIM
ClinVar
PMID:12417987, PMID:22916032, PMID:24123366, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr19:39,087,995...39,116,124
Ensembl chr19:39,087,990...39,116,125
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Adm adrenomedullin IEP protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Alb albumin IEP RGD PMID:9161836 RGD:11036102 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:15573249 RGD:8549649 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cfh complement factor H IEP protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Hmbs hydroxymethylbilane synthase EXP Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Lbp lipopolysaccharide binding protein IEP mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
JBrowse link
G Pcna proliferating cell nuclear antigen treatment IEP RGD PMID:12917765 RGD:10448973 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Ucp2 uncoupling protein 2 IEP RGD PMID:19632092 RGD:7204429 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
primary biliary cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD PMID:20040336, PMID:30682444, PMID:18671305 RGD:14694982 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD PMID:15542527, PMID:15770136 RGD:14700810 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 IEP mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Agt angiotensinogen IEP protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20451280 RGD:5148030 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD PMID:12126966, PMID:15770052 RGD:14995336 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 3:123,720,888...123,723,520
Ensembl chr 3:123,721,486...123,723,524
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr10:15,984,520...16,047,209
Ensembl chr10:15,987,921...16,046,033
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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Dag1 dystroglycan 1 IEP mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:56,015,813...56,242,041
Ensembl chr13:56,015,901...56,236,677
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15651265, PMID:15651265 RGD:9685530 NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO
IEP
mRNA:decreased expression:liver RGD PMID:19652645, PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hhip Hedgehog-interacting protein IEP mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr19:31,525,134...31,614,487
Ensembl chr19:31,524,671...31,614,246
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmox1 heme oxygenase 1 IEP mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:87,448,716...87,453,783
Ensembl chr14:87,448,692...87,453,785
JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 susceptibility IEP RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr16:20,370,722...20,383,576
Ensembl chr16:20,371,338...20,383,337
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:20442198 RGD:7829828 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635
G Jak2 Janus kinase 2 treatment IMP RGD PMID:24619965 RGD:10403061 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:51,276,022...51,365,238
Ensembl chr15:51,303,909...51,365,234
JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr10:91,303,428...91,353,601
Ensembl chr10:91,303,428...91,353,601
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor IEP RGD PMID:17532087 RGD:9685452 NCBI chr 1:48,076,761...48,108,218
Ensembl chr 1:48,077,033...48,108,216
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mir21 microRNA 21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO
protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:30026087, PMID:21903766 RGD:5509055 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 susceptibility ISO mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:27,942,546...27,949,089
Ensembl chr 2:27,942,546...27,949,089
JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:100,811,140...100,827,119
Ensembl chr 1:100,811,755...100,827,111
JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:17610866 RGD:2314466 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ren renin IEP protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr11:71,533,078...71,547,476
Ensembl chr11:71,533,078...71,547,476
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:176,158,174...176,231,331
Ensembl chr 4:176,158,640...176,231,344
JBrowse link
G Slco1c1 solute carrier organic anion transporter family, member 1c1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:175,729,709...175,776,749
Ensembl chr 4:175,729,726...175,776,808
JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spib Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 1:100,531,538...100,537,397
Ensembl chr 1:100,531,457...100,537,377
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
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 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:1,876,175...1,878,126
Ensembl chr20:1,876,173...1,897,814
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr19:39,087,995...39,116,124
Ensembl chr19:39,087,990...39,116,125
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :
GAD
RGD
PMID:15118671, PMID:15683428, PMID:19376604 RGD:1331525, RGD:14402024, RGD:14401750 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:liver
protein:increased expression:plasma:
RGD PMID:26627607, PMID:26615570 RGD:11528851, RGD:11538286 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
progressive familial intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:9806540, PMID:10579978, PMID:12370274, PMID:15300568, PMID:16039748, PMID:17855769, PMID:18395098, PMID:19101985, PMID:24991443, PMID:28492532, PMID:32581362 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
CTD
ClinVar
PMID:12891548, PMID:17726488, PMID:18482588, PMID:19584064, PMID:21056966, PMID:23533021, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26900700, PMID:32581362 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 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 chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
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 chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 disease_progression ISO ClinVar Annotator: match by term: 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:32860008, PMID:23758865, PMID:20447715 RGD:14688048, RGD:14402418 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2 ClinVar PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3 ClinVar PMID:16641580, PMID:18395098, PMID:22364601, PMID:27114171 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B 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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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 chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
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 2:227,098,795...227,160,385
Ensembl chr 2:227,098,795...227,160,379
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 chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
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 chr13:100,431,390...100,450,209 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        biliary tract disease 438
          bile duct disease 408
            cholestasis 313
              ARC syndrome + 2
              Aagenaes syndrome 0
              COACH syndrome 4
              Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
              Cholesterol Pneumonia 0
              GRACILE syndrome 1
              Hardikar Syndrome 0
              Lutz Richner Landolt Syndrome 0
              Mirizzi Syndrome 0
              biliary atresia + 17
              congenital bile acid synthesis defect + 6
              extrahepatic cholestasis 50
              intrahepatic cholestasis + 124
              obstructive jaundice + 22
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        hepatobiliary disease 2505
          biliary tract disease 438
            bile duct disease 408
              cholestasis 313
                ARC syndrome + 2
                Aagenaes syndrome 0
                COACH syndrome 4
                Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
                Cholesterol Pneumonia 0
                GRACILE syndrome 1
                Hardikar Syndrome 0
                Lutz Richner Landolt Syndrome 0
                Mirizzi Syndrome 0
                biliary atresia + 17
                congenital bile acid synthesis defect + 6
                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.