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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:intrahepatic cholestasis
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Accession:DOID:1852 term browser browse the term
Definition:A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. (DO)
Synonyms:exact_synonym: Intrahepatic Biliary Stases;   Intrahepatic Biliary Stasis;   intrahepatic bile duct obstruction;   intrahepatic cholestases;   neonatal intrahepatic cholestasis
 narrow_synonym: familial intrahepatic cholestasis;   progressive intrahepatic cholestasis
 broad_synonym: ATP8B1-related
 primary_id: MESH:D002780
 xref: GARD:10214;   NCI:C84400;   ORDO:284385
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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: Progressive intrahepatic cholestasis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... RGD:1598583, RGD:14688049 NCBI chr 3:74,424,620...74,520,646 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO
ISS		 ClinVar Annotator: match by term: Progressive 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
RGD		 PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More... RGD:1300325, RGD:14695045, RGD:14695044 NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr12:19,625,267...19,635,792 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 More... RGD:1599397 NCBI chr18:60,286,605...60,427,862 JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr14:17,465,210...17,467,255 JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr 1:205,269,967...205,280,365 JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chr18:26,737,078...26,740,877 JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr 1:239,425,515...239,552,323 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 1:191,842,688...191,845,919 JBrowse link
G Maf MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr19:43,353,867...43,713,162 JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr10:106,401,633...106,410,159 JBrowse link
G Mir27a microRNA 27a ISO mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr19:23,954,831...23,954,917 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 5:145,779,294...145,782,609 JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 IDA RGD PMID:15644430 RGD:1625202 NCBI chr 7:25,733,471...25,829,440 JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:50,624,339...50,651,437 JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:50,668,817...50,711,019 JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:221,709,745...221,838,291 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
ISS		 DNA:insertion:exon:c.962_963insA (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
OMIM:118450 | OMIM:610205
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC		 CTD
ClinVar
MouseDO
RGD		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... RGD:1580651, RGD:6482232, RGD:6482237 NCBI chr 3:124,406,783...124,442,220 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... RGD:1580762 NCBI chr 2:185,610,594...185,744,088 JBrowse link
ALAGILLE SYNDROME 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankef1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,847,832...123,883,060 JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:121,757,400...121,828,721 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation OMIM
ClinVar		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr 3:124,406,783...124,442,220 JBrowse link
G Lamp5 lysosomal-associated membrane protein family, member 5 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,372,462...123,384,973 JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:144,654,563...144,672,831 JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:143,848,404...144,156,674 JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:122,059,988...122,772,896 JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:122,952,965...123,322,522 JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:124,220,215...124,396,797 JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:144,494,579...144,576,449 JBrowse link
G Tmx4 thioredoxin-related transmembrane protein 4 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:142,309,026...142,352,415 JBrowse link
ALAGILLE SYNDROME 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2 OMIM
ClinVar		 PMID:16773578 PMID:21378985 PMID:22209782 PMID:23389697 PMID:24728327 More... NCBI chr 2:185,610,594...185,744,088 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: Summerskill syndrome
DNA:missense mutation:cds:p.I661T (human)		 OMIM
ClinVar
RGD		 PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 More... RGD:14401576 NCBI chr18:60,286,605...60,427,862 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:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 More... NCBI chr 3:74,424,620...74,520,646 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: AMACR-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9584266 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 More... NCBI chr 2:61,673,291...61,685,381 JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408 JBrowse link
Familial Primary Biliary Cirrhosis 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: Familial primary biliary cirrhosis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 1:221,709,745...221,838,291 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 4:26,106,895...26,164,440 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:60,286,605...60,427,862 JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:29,770,637...29,789,850 JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 8:59,802,072...59,829,275 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 2:206,723,050...206,742,783 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 ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 OMIM
ClinVar		 PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 More... NCBI chr18:60,286,605...60,427,862 JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chr 3:74,424,620...74,520,646 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 OMIM
ClinVar		 PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More... NCBI chr 4:26,106,895...26,164,440 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: Hereditary North American Indian childhood cirrhosis ClinVar PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More... NCBI chr19:34,790,962...34,820,558 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 5:72,473,676...72,596,563 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment
disease_progression		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)		 CTD
RGD		 PMID:20040336 PMID:30682444 PMID:21209952 PMID:18671305 RGD:153297773, RGD:14694982 NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver		 CTD
RGD		 PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr 1:252,613,875...252,672,459 JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:89,006,056...89,132,915 JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr10:91,410,129...91,430,246 JBrowse link
G Ace2 angiotensin converting enzyme 2 IEP mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:30,293,597...30,340,961 JBrowse link
G Agt angiotensinogen IEP protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr19:69,426,540...69,447,017 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20451280 RGD:5148030 NCBI chr18:6,782,389...6,799,034 JBrowse link
G Car1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,550,681...88,593,454 JBrowse link
G Car2 carbonic anhydrase 2 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,462,883...88,478,012 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:		 CTD
RGD		 PMID:12126966 PMID:15770052 RGD:14995336 NCBI chr10:68,820,330...68,824,906 JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:22,621,498...22,624,614 JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:increased expression:liver (human) RGD PMID:21275501 RGD:407420272 NCBI chr18:28,609,558...28,611,409 JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:54,184,573...54,190,112 JBrowse link
G Cd68 Cd68 molecule disease_progression ISO protein:increased expression:liver (human) RGD PMID:21275501 RGD:407420272 NCBI chr10:54,880,562...54,882,441 JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:75,760,073...75,798,978 JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:815,415...854,478 JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr20:7,150,820...7,161,373 JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 3:118,396,987...118,399,780 JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:5,434,725...5,631,246 JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr10:80,380,458...80,397,461 JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 1:144,709,278...144,817,388 JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr10:16,222,271...16,284,248 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 9:69,812,859...69,819,959 JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:15,989,066...15,991,263 JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:16,007,166...16,012,077 JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:53,738,878...53,756,813 JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:101,877,675...101,887,442 JBrowse link
G Dag1 dystroglycan 1 IEP mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 8:117,769,517...117,834,347 JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:50,545,324...50,772,922 JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr10:11,498,930...11,505,151 JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15651265 PMID:15651265 RGD:9685530 NCBI chr 3:28,611,722...28,617,237 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:241,212,155...241,245,774 JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:17,580,380...17,601,181 JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment IEP RGD PMID:20132096 RGD:329970291 NCBI chr15:20,404,267...20,437,727 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 1:95,298,332...95,300,271 JBrowse link
G Hhip Hedgehog-interacting protein IEP mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr19:27,863,684...27,952,528 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 6:98,357,788...98,405,068 JBrowse link
G Hmox1 heme oxygenase 1 IEP mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr19:13,452,365...13,479,823 JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease;
protein:increased expression:serum:		 RGD PMID:10051478 PMID:11280567 RGD:11520783, RGD:597000690 NCBI chr 8:27,829,688...27,841,618 JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:86,261,277...86,266,344 JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr13:45,024,921...45,029,586 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
RGD		 PMID:20639880 PMID:19458352 PMID:23433321 PMID:27175695 RGD:25440500, RGD:25440498, RGD:25440489 NCBI chr 2:155,275,734...155,282,997 JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr10:29,390,300...29,405,194 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 chr16:18,620,228...18,633,207 JBrowse link
G Il1b interleukin 1 beta disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:21275501 RGD:407420272 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:20442198 RGD:7829828 NCBI chr10:38,272,003...38,277,549 JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:21275501 RGD:407420272 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 2:58,452,393...58,477,757 JBrowse link
G Jak2 Janus kinase 2 treatment IMP RGD PMID:24619965 RGD:10403061 NCBI chr 1:236,408,905...236,468,769 JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:19,768,375...19,777,862 JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr 7:135,036,168...135,039,844 JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 7:134,407,626...134,423,787 JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr13:93,539,386...93,564,026 JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 4:58,626,529...58,640,663 JBrowse link
G Lepr leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 5:121,409,735...121,593,201 JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:45,964,544...45,977,431 JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:44,683,449...44,773,067 JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr10:88,665,417...88,715,669 JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:6,751,288...6,812,294 JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor IEP RGD PMID:17532087 RGD:9685452 NCBI chr 1:50,428,064...50,459,537 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr 4:46,756,823...46,864,041 JBrowse link
G Mir21 microRNA 21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr10:71,902,600...71,902,691 JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:61,141,887...61,141,996 JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 5:170,713,602...170,744,058 JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:4,497,960...4,508,239 JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr19:30,327,643...30,355,856 JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:12,925,267...12,938,828 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 3:174,103,474...174,111,434 JBrowse link
G Msn moesin IDA protein:increased phosphorylation:liver, blood vessel: RGD PMID:16492715 RGD:2298879 NCBI chr  X:60,996,043...61,064,011 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 1:206,225,775...206,261,280 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 3:81,001,529...81,031,165 JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 2:226,689,745...226,805,897 JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO		 protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30026087 PMID:21903766 RGD:5509055 NCBI chr10:64,313,335...64,349,221 JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30026087 PMID:20132096 RGD:329970291 NCBI chr 4:11,686,088...11,706,604 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 7:25,733,471...25,829,440 JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr18:31,522,783...31,644,508 JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:28,443,142...28,449,393 JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:95,298,995...95,314,902 JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:17610866 RGD:2314466 NCBI chr 2:210,858,515...211,003,480 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr14:63,073,505...63,729,215 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (human)		 CTD
RGD		 PMID:30026087 PMID:21275501 RGD:407420272 NCBI chr 1:212,354,336...212,364,815 JBrowse link
G Ren renin IEP protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr13:47,348,312...47,359,539 JBrowse link
G Rhoa ras homolog family member A IEP mRNA, protein:increased expression:liver RGD PMID:16492715 RGD:2298879 NCBI chr 8:117,870,548...117,904,303 JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 IEP mRNA, protein:increased expression:liver RGD PMID:16492715 RGD:2298879 NCBI chr 6:45,407,823...45,502,773 JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr10:71,817,794...71,865,211 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr20:4,575,134...4,579,727 JBrowse link
G Sell selectin L ISO protein:increased expression:serum: RGD PMID:11280567 RGD:597000690 NCBI chr13:78,950,100...78,969,604 JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 4:11,628,860...11,646,961 JBrowse link
G Slc51a solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr11:68,299,086...68,313,485 JBrowse link
G Slc51b SLC51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 8:65,931,891...65,939,953 JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:174,877,045...174,950,900 JBrowse link
G Slco1c1 solute carrier organic anion transporter family, member 1c1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:174,466,621...174,513,290 JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:50,043,323...50,050,168 JBrowse link
G Spib Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 1:95,018,939...95,024,804 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:126,685,017...126,697,957 JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:84,558,159...84,580,616 JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO DNA:SNPs, haplotypes:multiple
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)		 CTD
RGD		 PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 PMID:24648611 RGD:25671415, RGD:25671421, RGD:25671416, RGD:25671415 NCBI chr 9:49,472,660...49,588,540 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Primary biliary cirrhosis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 1:221,709,745...221,838,291 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 8:115,743,407...115,747,523 JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:serum (human)
protein:increased expression:blood serum(human)
mRNA:increased expression:liver		 RGD PMID:9047083 PMID:21275501 PMID:17158635 RGD:14995307, RGD:407420272, RGD:38501106 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:159,837,119...159,849,817 JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 8:27,918,054...27,943,319 JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:1,385,487...1,387,438 JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr19:34,790,962...34,820,558 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 7:130,864,764...130,916,757 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 9:22,452,854...22,468,194 JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 5:142,661,193...142,670,051 JBrowse link
primary biliary cholangitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il12rb2 interleukin 12 receptor subunit beta 2 ISO ClinVar Annotator: match by term: IL12RB2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:96,426,396...96,515,251 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:12717091 PMID:15300568 More... NCBI chr 3:74,424,620...74,520,646 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:11313316 PMID:12746424 PMID:12891548 PMID:15077010 PMID:16199547 More... NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 More... NCBI chr18:60,286,605...60,427,862 JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:8213816 PMID:16941474 PMID:17309651 PMID:21520340 PMID:23337983 More... NCBI chr 8:122,963,718...123,036,326 JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 NCBI chr 7:25,733,471...25,829,440 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 3:74,424,620...74,520,646 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Byler disease		 CTD
ClinVar		 PMID:12891548 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 More... NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 More... NCBI chr18:60,286,605...60,427,862 JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 NCBI chr 7:25,733,471...25,829,440 JBrowse link
Progressive Familial Intrahepatic Cholestasis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 OMIM
ClinVar		 PMID:18724368 PMID:20186687 PMID:24248336 PMID:25741868 PMID:27532546 More... NCBI chr18:70,313,717...70,613,918 JBrowse link
Progressive Familial Intrahepatic Cholestasis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 OMIM
ClinVar		 PMID:34585848 NCBI chr 8:58,348,448...58,370,536 JBrowse link
Progressive Familial Intrahepatic Cholestasis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 OMIM
ClinVar		 PMID:18853461 PMID:25741868 PMID:31479177 NCBI chr 1:143,633,167...143,656,228 JBrowse link
Progressive Familial Intrahepatic Cholestasis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pskh1 protein serine kinase H1 ISO ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 OMIM
ClinVar		 PMID:39132680 NCBI chr19:50,704,780...50,736,890 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: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 More... RGD:14688048, RGD:14402418 NCBI chr 3:74,424,620...74,520,646 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 ClinVar PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chr18:60,286,605...60,427,862 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: MDR3 deficiency ClinVar PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 More... NCBI chr 3:74,424,620...74,520,646 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 More... NCBI chr 4:26,106,895...26,164,440 JBrowse link
progressive familial intrahepatic cholestasis 4 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, progressive familial intrahepatic, 4 ClinVar PMID:9806540 PMID:12370274 PMID:14672610 PMID:15791618 PMID:17855769 More... NCBI chr 3:74,424,620...74,520,646 JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 OMIM
ClinVar		 PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:26467025 More... NCBI chr 1:221,709,745...221,838,291 JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 NCBI chr 2:211,059,512...211,120,942 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 Annotator: match by term: NR1H4-related condition OMIM
ClinVar		 PMID:11030617 PMID:17519356 PMID:17681172 PMID:21633855 PMID:24806754 More... NCBI chr 7:25,733,471...25,829,440 JBrowse link
Progressive Familial Intrahepatic Cholestasis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc51a solute carrier family 51 member A ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 OMIM
ClinVar		 PMID:25741868 PMID:31863603 PMID:32247663 NCBI chr11:68,299,086...68,313,485 JBrowse link
Progressive Familial Intrahepatic Cholestasis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | ClinVar Annotator: match by term: USP53-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30250217 More... NCBI chr 2:211,059,512...211,120,942 JBrowse link
Progressive Familial Intrahepatic Cholestasis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif12 kinesin family member 12 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 OMIM
ClinVar		 PMID:25741868 PMID:30250217 PMID:30976738 PMID:34555379 NCBI chr 5:76,596,204...76,603,261 JBrowse link
Progressive Familial Intrahepatic Cholestasis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 OMIM
ClinVar		 PMID:25741868 PMID:32737136 PMID:33853651 NCBI chr 3:106,195,779...106,203,969 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: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar		 PMID:18382993 PMID:20522425 PMID:23824842 PMID:24033266 PMID:25348816 More... NCBI chr13:93,539,386...93,564,026 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      endocrine system disease 7037
        liver disease 3009
          intrahepatic cholestasis 151
            Alagille syndrome + 12
            Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease 0
            benign recurrent intrahepatic cholestasis + 2
            congenital bile acid synthesis defect 4 2
            intrahepatic cholestasis of pregnancy + 7
            primary biliary cholangitis + 112
            progressive familial intrahepatic cholestasis + 14
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      gastrointestinal system disease 7189
        hepatobiliary disease 3120
          biliary tract disease 547
            bile duct disease 503
              cholestasis 351
                intrahepatic cholestasis 151
                  Alagille syndrome + 12
                  Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease 0
                  benign recurrent intrahepatic cholestasis + 2
                  congenital bile acid synthesis defect 4 2
                  intrahepatic cholestasis of pregnancy + 7
                  primary biliary cholangitis + 112
                  progressive familial intrahepatic cholestasis + 14
paths to the root