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
Accession: DOID:1852
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 .
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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:16641580 PMID:18049162 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 PMID:27114171 PMID:28492532 PMID:28733223 PMID:33915153 PMID:9806540 PMID:22619174 More...
RGD:1598583 , RGD:14688049
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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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 PMID:17726488 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:21119540 PMID:22331132 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24806754 PMID:25741868 PMID:25755532 PMID:26126923 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:28039895 PMID:28492532 PMID:28587926 PMID:28776642 PMID:28924228 PMID:29761167 PMID:30449124 PMID:31130284 PMID:31181191 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:35626323 PMID:35894240 PMID:35905201 PMID:8106172 PMID:30935993 PMID:18781607 More...
RGD:1300325 , RGD:14695045 , RGD:14695044
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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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
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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:14988830 PMID:15239083 PMID:18379143 PMID:19731236 PMID:19918981 PMID:20232290 PMID:22525741 PMID:25741868 PMID:26382629 PMID:26858187 PMID:26879107 PMID:28492532 PMID:31450232 PMID:33437900 PMID:33666275 PMID:34016879 PMID:9500542 More...
RGD:1599397
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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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
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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
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18364083 PMID:22094456
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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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
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
CBAS1, OMIM:607765
RGD
PMID:12679481
RGD:1599971
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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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
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Mafg
MAF bZIP transcription factor G
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20146260
NCBI chr10:105,903,307...105,911,808
Ensembl chr10:105,903,237...105,912,026
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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
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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
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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
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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
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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
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Tjp2
tight junction protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614073
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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Ankef1
ankyrin repeat and EF-hand domain containing 1
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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Hao1
hydroxyacid oxidase 1
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721
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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 PMID:10213047 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11139247 PMID:11152664 PMID:11157803 PMID:11180599 PMID:11181574 PMID:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12297837 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18660822 PMID:19058200 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:20586101 PMID:21532573 PMID:21752016 PMID:22040217 PMID:22382802 PMID:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25326637 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29453956 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:30651579 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34399559 PMID:34746741 PMID:36973604 PMID:37600608 PMID:11745040 PMID:21714972 PMID:16875832 More...
RGD:1580651 , RGD:6482232 , RGD:6482237
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Lamp5
lysosomal-associated membrane protein family, member 5
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952
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Mkks
MKKS centrosomal shuttling protein
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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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 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:31749841 PMID:16773578 More...
RGD:1580762
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pak5
p21 (RAC1) activated kinase 5
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930
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Plcb1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Plcb4
phospholipase C, beta 4
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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Slx4ip
SLX4 interacting protein
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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Tmx4
thioredoxin-related transmembrane protein 4
ISO
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641
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Ankef1
ankyrin repeat and EF-hand domain containing 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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Hao1
hydroxyacid oxidase 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
OMIM ClinVar
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 PMID:10213047 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11139247 PMID:11152664 PMID:11157803 PMID:11180599 PMID:11181574 PMID:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18660822 PMID:19058200 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:21752016 PMID:22040217 PMID:22382802 PMID:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29453956 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34399559 PMID:34746741 PMID:36973604 PMID:37600608 More...
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Lamp5
lysosomal-associated membrane protein family, member 5
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952
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Mkks
MKKS centrosomal shuttling protein
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Pak5
p21 (RAC1) activated kinase 5
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930
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Plcb1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Plcb4
phospholipase C, beta 4
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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Slx4ip
SLX4 interacting protein
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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Tmx4
thioredoxin-related transmembrane protein 4
ISO
ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar
PMID:28492532 PMID:32733715
NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Alagille syndrome 2
OMIM ClinVar
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:30143558 PMID:31749841 PMID:32164334 More...
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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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 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:16199547 PMID:17592371 PMID:19260995 PMID:19731236 PMID:19918981 PMID:20232290 PMID:20414253 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25421123 PMID:25737299 PMID:25741868 PMID:26126923 PMID:26382629 PMID:26858187 PMID:26879107 PMID:27050426 PMID:27530795 PMID:28492532 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:32650689 PMID:32695736 PMID:33437900 PMID:33666275 PMID:34016879 PMID:35431768 PMID:35894240 PMID:9918928 More...
RGD:14401576
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:14672610 PMID:15300568 PMID:15317749 PMID:15791618 PMID:16039748 PMID:16199547 PMID:16290310 PMID:16641580 PMID:16868810 PMID:16871584 PMID:17241866 PMID:17576681 PMID:17855769 PMID:17947449 PMID:18395098 PMID:18692205 PMID:18798335 PMID:19101985 PMID:19750581 PMID:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:22609309 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23437912 PMID:23750872 PMID:24115678 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24530123 PMID:24627769 PMID:24711118 PMID:24969679 PMID:24991443 PMID:25716872 PMID:25741868 PMID:25771912 PMID:25847299 PMID:26019043 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27153395 PMID:27239116 PMID:27368585 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28425419 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29404523 PMID:29412511 PMID:29625052 PMID:29992621 PMID:30210030 PMID:30366773 PMID:31015375 PMID:31091858 PMID:31450232 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32581362 PMID:32793533 PMID:32808743 PMID:32860008 PMID:32917322 PMID:32942997 PMID:33201677 PMID:33215027 PMID:33915153 PMID:34008892 PMID:34016879 PMID:34942279 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Amacr
alpha-methylacyl-CoA racemase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
OMIM CTD ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25741868 PMID:28492532 PMID:30369941 More...
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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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
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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
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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
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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
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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
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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
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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
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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 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:32650689 PMID:32695736 PMID:33223529 PMID:35894240 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:29992621 PMID:30091450 PMID:30934130 PMID:31538484 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 PMID:34016879 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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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 PMID:12624161 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33390354 PMID:33742171 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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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 PMID:20385600 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 PMID:28492532 More...
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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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
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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 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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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
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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
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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
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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
Ensembl chr X:30,293,589...30,340,977
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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
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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
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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
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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...68,327,380
Ensembl chr10:68,322,829...68,327,377
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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
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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
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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
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Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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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
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Cenpb
centromere protein B
ISO
RGD
PMID:8911074
RGD:27226708
NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
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Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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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
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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
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
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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
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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
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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
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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
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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
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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
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
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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
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
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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
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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
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Gch1
GTP cyclohydrolase 1
treatment
IEP
RGD
PMID:20132096
RGD:329970291
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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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
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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
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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
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
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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
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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
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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
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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
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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
G
Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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
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
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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
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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
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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
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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
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Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21681009
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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Lbr
lamin B receptor
ISO
RGD
PMID:8550049
RGD:9588625
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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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
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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
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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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
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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
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
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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
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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
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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
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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
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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
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
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
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
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
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:18507686
RGD:2324885
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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
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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
G
Nos3
nitric oxide synthase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:20132096
RGD:329970291
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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
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
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
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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
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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
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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
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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
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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
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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
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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
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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
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Slc51a
solute carrier family 51 member A
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
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Slc51b
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
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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
Ensembl chr 4:174,876,593...174,950,873
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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
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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
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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
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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
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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
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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
Ensembl chr 9:49,419,340...49,588,540
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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
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Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Primary biliary cholangitis
ClinVar
PMID:25741868 PMID:28492532 PMID:32439973
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
Ensembl chr 4:96,426,842...96,515,289
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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 PMID:16039748 PMID:16290310 PMID:16641580 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27239116 PMID:27426735 PMID:28027573 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:30210030 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:33215027 PMID:33915153 PMID:34016879 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 PMID:17726488 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:21119540 PMID:22331132 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24806754 PMID:25741868 PMID:25755532 PMID:26126923 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:28039895 PMID:28492532 PMID:28587926 PMID:28776642 PMID:28924228 PMID:29761167 PMID:30449124 PMID:31130284 PMID:31181191 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:35626323 PMID:35894240 PMID:35905201 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
PMID:5807632 PMID:9500542 PMID:9918928 PMID:14988830 PMID:15239083 PMID:19731236 PMID:19918981 PMID:20232290 PMID:22525741 PMID:25741868 PMID:26382629 PMID:26858187 PMID:26879107 PMID:28492532 PMID:31450232 PMID:33437900 PMID:33666275 PMID:34016879 PMID:34543749 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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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
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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 PMID:19261551 PMID:19467940 PMID:19584064 PMID:20042859 PMID:20537830 PMID:21056966 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23533021 PMID:24723470 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26900700 PMID:27256251 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29761167 PMID:31000363 PMID:31538484 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:34961929 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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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 PMID:9918928 PMID:11093741 PMID:12149765 PMID:14976163 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:16374853 PMID:17576681 PMID:18937870 PMID:19260995 PMID:19381753 PMID:19731236 PMID:19918981 PMID:20038848 PMID:20232290 PMID:20414253 PMID:20683201 PMID:20852622 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:26594346 PMID:26756876 PMID:26879107 PMID:27050426 PMID:28045770 PMID:28492532 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31555573 PMID:32650689 PMID:32695736 PMID:33223529 PMID:33666275 PMID:34016879 PMID:34543749 PMID:35894240 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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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 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Myo5b
myosin Vb
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10
OMIM ClinVar
PMID:18724368 PMID:20186687 PMID:25741868 PMID:27532546 PMID:28027573 PMID:28492532 PMID:32304554 PMID:33525641 More...
NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
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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
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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 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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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 PMID:12717091 PMID:14672610 PMID:14999697 PMID:15077010 PMID:15300568 PMID:15317749 PMID:15791618 PMID:16039748 PMID:16199547 PMID:16290310 PMID:16641580 PMID:16763017 PMID:16871584 PMID:17576681 PMID:17855769 PMID:17947449 PMID:18395098 PMID:18692205 PMID:18798335 PMID:18937870 PMID:19101985 PMID:19571440 PMID:19750581 PMID:19797282 PMID:19845854 PMID:20010382 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:20799350 PMID:21404481 PMID:21490445 PMID:22364601 PMID:22609309 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23684896 PMID:23750872 PMID:24033266 PMID:24115678 PMID:24214725 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24530123 PMID:24627769 PMID:24969679 PMID:24991443 PMID:25716872 PMID:25741868 PMID:25771912 PMID:25847299 PMID:26019043 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27153395 PMID:27239116 PMID:27368585 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28454995 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29412511 PMID:30210030 PMID:31015375 PMID:31319225 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:32942997 PMID:33915153 PMID:34008892 PMID:34016879 PMID:35780807 PMID:36142670 PMID:23758865 PMID:20447715 More...
RGD:14688048 , RGD:14402418
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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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 PMID:25741868 PMID:28492532 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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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 PMID:27114171 PMID:28492532 PMID:28733223 PMID:33915153 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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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 PMID:12624161 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17241866 PMID:17576681 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:21514256 PMID:22184139 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25593501 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28552422 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:30036524 PMID:31000363 PMID:31130284 PMID:31319225 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33215027 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:33763395 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:28039895 PMID:28492532 PMID:30311386 PMID:32089630 More...
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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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
Ensembl chr 2:211,059,520...211,120,943
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition
OMIM CTD ClinVar
PMID:11030617 PMID:17681172 PMID:21633855 PMID:24806754 PMID:25741868 PMID:26888176 PMID:28492532 PMID:31201556 More...
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Slc51a
solute carrier family 51 member A
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6
OMIM ClinVar
PMID:25741868 PMID:31863603
NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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Usp53
ubiquitin specific peptidase 53
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30250217 PMID:32124521 PMID:32759993 PMID:33075013 PMID:34608165 More...
NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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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
Ensembl chr 5:76,596,208...76,602,843
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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
Ensembl chr 3:106,195,899...106,203,969
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Lbr
lamin B receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome
OMIM CTD ClinVar
PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32827848 More...
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all