Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:extrahepatic cholestasis
go back to main search page
Accession:DOID:13619 term browser browse the term
Definition:Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes.
Synonyms:exact_synonym: Bile Duct Obstruction, Extrahepatic;   Extrahepatic Biliary Stasis;   extrahepatic obstructive biliary disease
 primary_id: MESH:D001651;   RDO:0004994
 xref: NCI:C34420
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
extrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) RGD PMID:28660384 RGD:21203516 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G ABCC4 ATP binding cassette subfamily C member 4 treatment ISO mRNA:increased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:hypothalamus (rat) RGD PMID:8387536 RGD:5490980 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:70,475,651...70,485,987 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO mRNA:decreased expression:liver, nucleus (rat)
mRNA:decreased expression:liver (rat)
RGD PMID:28660384, PMID:29360226 RGD:14995480, RGD:21203516 NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 treatment ISO mRNA:decreased expression:liver (rat) RGD PMID:29360226 RGD:14995480 NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression:liver: RGD PMID:7762611 RGD:7349397 NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961
JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:7762611 RGD:7349397 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19652645 RGD:11041639 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr13:11,737,942...11,894,923 JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO mRNA, protein:decreased expression:liver, mitochondrion (rat) RGD PMID:12399220 RGD:2326121 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HNF1A HNF1 homeobox A ISO mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) RGD PMID:15723437 RGD:14700989 NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 1:58,042,794...58,045,536 JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
JBrowse link
G LGALS1 galectin 1 ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MAPK9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 5:175,437,167...175,495,469
Ensembl chr 5:182,748,381...182,795,135
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30026087, PMID:31900718 RGD:21201303 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
disease_progression
ISO mRNA:increased expression:liver (rat)
protein:increased expression:liver (rat)
human gene in mouse model
RGD PMID:14623915, PMID:22057115, PMID:29138817, PMID:29360226 RGD:14928333, RGD:14995480, RGD:15042871, RGD:1625205 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:18466260 RGD:10449503 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:liver (rat) RGD PMID:18225978 RGD:2316551 NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G SETD7 SET domain containing 7, histone lysine methyltransferase treatment ISO RGD PMID:24097032 RGD:9491846 NCBI chr 4:131,869,999...131,921,342
Ensembl chr 4:143,167,190...143,227,732
JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO protein:decreased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 6:158,004,545...158,046,428
Ensembl chr 6:163,014,663...163,054,681
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO protein:increased expression:kidney RGD PMID:20814153 RGD:7243879 NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951, PMID:30026087 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28789951 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12752
    disease of anatomical entity 12282
      gastrointestinal system disease 3955
        biliary tract disease 402
          bile duct disease 372
            cholestasis 283
              extrahepatic cholestasis 50
Path 2
Term Annotations click to browse term
  disease 12752
    disease of anatomical entity 12282
      gastrointestinal system disease 3955
        hepatobiliary disease 2211
          biliary tract disease 402
            bile duct disease 372
              cholestasis 283
                extrahepatic cholestasis 50
paths to the root

NHLBI Logo

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