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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 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO
ISS
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
MouseDO
RGD
PMID:8106172 PMID:30935993 PMID:18781607 RGD:1300325, RGD:14695045, RGD:14695044 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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
Ensembl chr12:19,625,332...19,756,713
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18379143 PMID:9500542 RGD:1599397 NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:29404441 RGD:14700873 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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
Ensembl chr 1:239,425,430...239,552,317
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 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Mafg MAF bZIP transcription factor G ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr10:105,903,307...105,911,845
Ensembl chr10:105,903,237...105,912,026
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
Ensembl 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
Ensembl 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 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Slc22a1 solute carrier family 22 member 1 IEP mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
JBrowse link
Alagille syndrome 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 1 ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,847,817...123,883,060
Ensembl chr 3:123,847,817...123,883,059
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO 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
OMIM
CTD
ClinVar
RGD
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... RGD:1580651, RGD:6482232, RGD:6482237 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Lamp5 lysosomal-associated membrane protein family, member 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,372,462...123,384,970
Ensembl chr 3:123,372,462...123,384,952
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2 OMIM
ClinVar
RGD
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... RGD:1580762 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930
JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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:15239083 More... RGD:14401576 NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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:14672610 More... NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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: Congenital bile acid synthesis defect 4 OMIM
ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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
Ensembl chr 2:59,963,706...59,996,317
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 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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
RGD
PMID:20040336 PMID:30682444 PMID:18671305 RGD:14694982 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin I converting enzyme 2 IEP mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Agt angiotensinogen IEP protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20451280 RGD:5148030 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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 chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 3:118,396,987...118,399,788
Ensembl chr 3:118,388,546...118,400,470
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
JBrowse link
G Dag1 dystroglycan 1 IEP mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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
Ensembl chr13:50,545,836...50,770,601
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
Ensembl chr10:11,498,931...11,501,869
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15651265 PMID:15651265 RGD:9685530 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hhip Hedgehog-interacting protein IEP mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmox1 heme oxygenase 1 IEP mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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
Ensembl chr16:18,620,770...18,632,769
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:20442198 RGD:7829828 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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
Ensembl chr 2:58,454,217...58,477,757
JBrowse link
G Jak2 Janus kinase 2 treatment IMP RGD PMID:24619965 RGD:10403061 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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
Ensembl 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 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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
Ensembl chr15:44,683,880...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 chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor IEP RGD PMID:17532087 RGD:9685452 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mir21 microRNA 21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:61,141,887...61,141,996
Ensembl 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 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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 chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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
Ensembl chr 2:28,441,269...28,449,388
JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174
JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:17610866 RGD:2314466 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Ren renin IEP protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 8:65,931,891...65,934,893
Ensembl chr 8:65,931,890...65,940,145
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...174,950,857
Ensembl chr 4:174,876,593...174,950,873
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
Ensembl chr 4:174,466,631...174,513,289
JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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
Ensembl chr 1:95,018,947...95,024,780
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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
Ensembl chr 1:84,558,166...84,580,616
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNPs, haplotypes:multiple
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
RGD 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
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639
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
Ensembl chr19:34,792,457...34,820,550
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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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:18482588 PMID:19584064 PMID:20422496 More... NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease OMIM
ClinVar
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9918928 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:21633855 PMID:26888176 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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:27532546 PMID:28027573 PMID:32304554 PMID:33525641 NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
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
Ensembl chr 8:58,348,448...58,370,536
JBrowse link
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 disease_progression ISO DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)
OMIM
RGD
PMID:23758865 PMID:20447715 RGD:14688048, RGD:14402418 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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:22364601 PMID:25741868 PMID:27114171 More... NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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:9923886 PMID:11313316 PMID:12891548 More... NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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: Cholestasis, progressive familial intrahepatic, 4 OMIM
ClinVar
PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:28492532 More... NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 PMID:32124521 NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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 OMIM
ClinVar
PMID:21633855 PMID:25741868 PMID:26888176 PMID:31201556 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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 subunit alpha ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 OMIM
ClinVar
PMID:31863603 NCBI chr11:68,299,086...68,313,485
Ensembl 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 OMIM
ClinVar
PMID:25741868 PMID:30250217 PMID:32124521 PMID:33075013 PMID:34608165 NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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:30250217 PMID:30976738 PMID:34555379 NCBI chr 5:76,596,204...76,603,261
Ensembl chr 5:76,596,208...76,602,843
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:33853651 NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...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:20522425 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 More... NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      endocrine system disease 6249
        liver disease 2614
          intrahepatic cholestasis 133
            Alagille syndrome 9
            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 + 99
            progressive familial intrahepatic cholestasis + 11
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      gastrointestinal system disease 6530
        hepatobiliary disease 2716
          biliary tract disease 498
            bile duct disease 456
              cholestasis 329
                intrahepatic cholestasis 133
                  Alagille syndrome 9
                  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 + 99
                  progressive familial intrahepatic cholestasis + 11
paths to the root