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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, sub-family B member 11 susceptibility ISO
IMP		 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 More... RGD:1598583, RGD:14688049 NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 treatment IMP
ISO
IAGP		 ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878		 ClinVar
MouseDO
RGD		 PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More... RGD:1300325, RGD:14695045, RGD:14695044 NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Ap1s1 adaptor protein complex AP-1, sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23423674 NCBI chr 5:137,063,852...137,074,917
Ensembl chr 5:137,063,847...137,074,989 		JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 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 More... RGD:1599397 NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO mRNA:increased expression:liver RGD PMID:18364083 RGD:5135233 NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP RGD PMID:29404441 RGD:14700873 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18364083 PMID:22094456 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased activity,altered location:liver: RGD PMID:11383876 RGD:9685454 NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046 		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 7:127,399,830...127,402,973
Ensembl chr 7:127,399,776...127,402,974 		JBrowse link
G Maf MAF bZIP transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
G Mafg v-maf musculoaponeurotic fibrosarcoma oncogene family, protein G (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20146260 NCBI chr11:120,515,943...120,525,771
Ensembl chr11:120,515,943...120,524,426 		JBrowse link
G Mir27a microRNA 27a IEP mRNA:increased expression:liver (mouse) RGD PMID:25226451 RGD:14695552 NCBI chr 8:84,935,301...84,935,387
Ensembl chr 8:84,935,301...84,935,387 		JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO mRNA, protein:increased expression:liver RGD PMID:18578998 RGD:2311605 NCBI chr 4:133,280,687...133,283,997
Ensembl chr 4:133,280,687...133,283,847 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO RGD PMID:15644430 RGD:1625202 NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447 		JBrowse link
G Slc22a1 solute carrier family 22 (organic cation transporter), member 1 ISO mRNA, protein:decreased expression:liver RGD PMID:19002567 RGD:7243885 NCBI chr17:12,867,761...12,894,725
Ensembl chr17:12,867,756...12,894,716 		JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), member 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:19002567 RGD:7243885 NCBI chr17:12,803,076...12,847,376
Ensembl chr17:12,803,019...12,847,375 		JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614073 NCBI chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394 		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: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:136,374,241...136,397,774
Ensembl chr 2:136,343,830...136,404,011 		JBrowse link
G Hao1 hydroxyacid oxidase 1, liver ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:134,339,281...134,396,272
Ensembl chr 2:134,339,281...134,396,288 		JBrowse link
G Jag1 jagged 1 ISO
IMP
IAGP		 DNA:insertion:exon:c.962_963insA (human)
CTD Direct Evidence: marker/mechanism
OMIM:118450 | OMIM:610205
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
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC		 CTD
MouseDO
ClinVar
RGD		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... RGD:1580651, RGD:6482232, RGD:6482237 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G 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 2:135,893,945...135,911,837
Ensembl chr 2:135,894,159...135,911,837 		JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		JBrowse link
G Notch2 notch 2 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... RGD:1580762 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677 		JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:135,923,008...136,229,899
Ensembl chr 2:135,923,024...136,229,887 		JBrowse link
G Plcb1 phospholipase C, beta 1 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:134,628,084...135,317,178
Ensembl chr 2:134,627,987...135,317,178 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:135,500,523...135,856,522
Ensembl chr 2:135,500,931...135,856,513 		JBrowse link
G 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 More... NCBI chr 2:136,733,138...136,923,273
Ensembl chr 2:136,733,138...136,913,870 		JBrowse link
G Snap25 synaptosomal-associated protein 25 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		JBrowse link
G Tmx4 thioredoxin-related transmembrane protein 4 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:134,436,421...134,486,041
Ensembl chr 2:134,436,105...134,486,065 		JBrowse link
ALAGILLE SYNDROME 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankef1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:136,374,241...136,397,774
Ensembl chr 2:136,343,830...136,404,011 		JBrowse link
G Hao1 hydroxyacid oxidase 1, liver ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:134,339,281...134,396,272
Ensembl chr 2:134,339,281...134,396,288 		JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 OMIM
ClinVar		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Lamp5 lysosomal-associated membrane protein family, member 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:135,893,945...135,911,837
Ensembl chr 2:135,894,159...135,911,837 		JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:135,923,008...136,229,899
Ensembl chr 2:135,923,024...136,229,887 		JBrowse link
G Plcb1 phospholipase C, beta 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:134,628,084...135,317,178
Ensembl chr 2:134,627,987...135,317,178 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:135,500,523...135,856,522
Ensembl chr 2:135,500,931...135,856,513 		JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr 2:136,733,138...136,923,273
Ensembl chr 2:136,733,138...136,913,870 		JBrowse link
G Snap25 synaptosomal-associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		JBrowse link
G Tmx4 thioredoxin-related transmembrane protein 4 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr 2:134,436,421...134,486,041
Ensembl chr 2:134,436,105...134,486,065 		JBrowse link
ALAGILLE SYNDROME 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2 OMIM
ClinVar		 PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677 		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, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Summerskill syndrome
DNA:missense mutation:cds:p.I661T (human)		 OMIM
ClinVar
RGD		 PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 More... RGD:14401576 NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		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, sub-family 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 More... NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		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 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 More... NCBI chr15:10,981,875...10,995,693
Ensembl chr15:10,981,842...10,996,712 		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 chr15:11,000,807...11,029,319
Ensembl chr15:11,000,807...11,029,319 		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, sub-family B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069 		JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		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, class I, type 8B, member 1 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:20981092 More... NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		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, sub-family 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 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family 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 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis ClinVar PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More... NCBI chr 8:107,620,272...107,649,726
Ensembl chr 8:107,620,268...107,649,720 		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, sub-family A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 treatment
disease_progression		 ISO
IMP		 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 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Abcc2 ATP-binding cassette, sub-family member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver		 CTD
RGD		 PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661 		JBrowse link
G Ace angiotensin I converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		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 chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd80 CD80 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697 		JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 2:131,019,209...131,021,974
Ensembl chr 2:131,017,102...131,021,987 		JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742 		JBrowse link
G Col1a1 collagen, type I, alpha 1 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213 		JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr11:31,820,911...31,885,635
Ensembl chr11:31,822,211...31,885,634 		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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 9:44,423,084...44,437,741
Ensembl chr 9:44,423,084...44,473,174 		JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr11:116,536,421...116,544,887
Ensembl chr11:116,536,421...116,545,139 		JBrowse link
G Dag1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 1:138,891,447...139,103,781
Ensembl chr 1:138,891,173...139,106,698 		JBrowse link
G Dnase1 deoxyribonuclease I ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15651265 PMID:15651265 RGD:9685530 NCBI chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment ISO RGD PMID:20132096 RGD:329970291 NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457 		JBrowse link
G Hhip Hedgehog-interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr 8:80,692,480...80,784,637
Ensembl chr 8:80,692,480...80,784,635 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment IMP associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr11:7,147,787...7,152,546
Ensembl chr11:7,147,782...7,152,546 		JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		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 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880 		JBrowse link
G Il12b interleukin 12b ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860 		JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 susceptibility IEP RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657 		JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr15:101,936,651...101,940,461
Ensembl chr15:101,936,615...101,940,462 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr15:101,310,284...101,325,687
Ensembl chr15:101,308,924...101,328,194 		JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Lepr leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr14:69,846,085...69,933,283
Ensembl chr14:69,846,517...69,933,283 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 IAGP OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr11:103,110,590...103,158,227
Ensembl chr11:103,110,588...103,158,298 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380 		JBrowse link
G Mas1 MAS1 oncogene ISO RGD PMID:17532087 RGD:9685452 NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030 		JBrowse link
G Met met proto-oncogene severity IMP RGD PMID:19208365 RGD:14694826 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mir21a microRNA 21a severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Muc2 mucin 2 ISO RGD PMID:18507686 RGD:2324885 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30026087 PMID:21903766 RGD:5509055 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30026087 PMID:20132096 RGD:329970291 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		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 chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474 		JBrowse link
G Nsa2 NSA2 ribosome biogenesis homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr13:97,265,935...97,274,434
Ensembl chr13:97,265,932...97,274,445 		JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 7:44,465,512...44,481,260
Ensembl chr 7:44,465,512...44,480,236 		JBrowse link
G Pde5a phosphodiesterase 5A, cGMP-specific ISO RGD PMID:17610866 RGD:2314466 NCBI chr 3:122,522,822...122,653,023
Ensembl chr 3:122,522,596...122,653,023 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Ren1 renin 1 structural ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631 		JBrowse link
G Slc4a2 solute carrier family 4 (anion exchanger), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 5:24,628,834...24,645,945
Ensembl chr 5:24,628,835...24,645,948 		JBrowse link
G Slc51a solute carrier family 51, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr16:32,294,396...32,306,697
Ensembl chr16:32,293,322...32,306,697 		JBrowse link
G Slc51b solute carrier family 51, beta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 9:65,320,035...65,330,055
Ensembl chr 9:65,319,996...65,330,237 		JBrowse link
G Slco1c1 solute carrier organic anion transporter family, member 1c1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 6:141,470,080...141,515,903
Ensembl chr 6:141,470,094...141,515,903 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Spib Spi-B transcription factor (Spi-1/PU.1 related) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 7:44,175,419...44,181,511
Ensembl chr 7:44,175,417...44,181,495 		JBrowse link
G Spint1 serine protease inhibitor, Kunitz type 1 IEP mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 2:119,067,841...119,079,995
Ensembl chr 2:119,067,843...119,080,008 		JBrowse link
G Spint2 serine protease inhibitor, Kunitz type 2 IEP mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 7:28,955,755...28,981,484
Ensembl chr 7:28,955,748...28,981,337 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNPs, haplotypes:multiple 		CTD
RGD		 PMID:21399635 PMID:26084578 PMID:28395724 PMID:24648611 PMID:24648611 RGD:25671421, RGD:25671416, RGD:25671415, RGD:25671415 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Primary biliary cholangitis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394 		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 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539 		JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr17:37,504,783...37,506,992
Ensembl chr17:37,504,783...37,506,986 		JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 8:107,620,272...107,649,726
Ensembl chr 8:107,620,268...107,649,720 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :		 GAD
RGD		 PMID:15118671 PMID:15683428 PMID:19376604 RGD:1331525, RGD:14402024, RGD:14401750 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:		 RGD PMID:26627607 PMID:26615570 RGD:11528851, RGD:11538286 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A IAGP OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633 		JBrowse link
primary biliary cholangitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il12rb2 interleukin 12 receptor, beta 2 ISO ClinVar Annotator: match by term: IL12RB2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:67,263,914...67,353,277
Ensembl chr 6:67,268,302...67,353,172 		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, sub-family 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 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More... NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:5807632 PMID:9500542 PMID:9918928 PMID:14988830 PMID:15239083 More... NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		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, sub-family B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Byler disease		 CTD
ClinVar		 PMID:12891548 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 More... NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 More... NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5b myosin VB ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 OMIM
ClinVar		 PMID:18724368 PMID:20186687 PMID:25741868 PMID:27532546 PMID:28027573 More... NCBI chr18:74,575,435...74,905,769
Ensembl chr18:74,574,007...74,904,564 		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 sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 OMIM
ClinVar		 PMID:34585848 NCBI chr 9:57,846,879...57,870,148
Ensembl chr 9:57,847,395...57,870,148 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 OMIM
ClinVar		 PMID:18853461 PMID:25741868 PMID:31479177 NCBI chr 7:79,919,369...79,941,323
Ensembl chr 7:79,919,397...79,941,502 		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, sub-family B member 11 disease_progression ISO ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 More... RGD:14688048, RGD:14402418 NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 ClinVar PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		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, sub-family B member 11 ISO ClinVar Annotator: match by term: MDR3 deficiency ClinVar PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 More... NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 More... NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:24614073 PMID:25741868 PMID:25741916 PMID:25921221 More... NCBI chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394 		JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 NCBI chr 3:122,725,142...122,778,184
Ensembl chr 3:122,725,142...122,778,159 		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 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 More... NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447 		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, alpha subunit ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 OMIM
ClinVar		 PMID:25741868 PMID:31863603 NCBI chr16:32,294,396...32,306,697
Ensembl chr16:32,293,322...32,306,697 		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:9536098 PMID:17576681 PMID:25741868 PMID:25741905 PMID:25741916 More... NCBI chr 3:122,725,142...122,778,184
Ensembl chr 3:122,725,142...122,778,159 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif12 kinesin family member 12 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:30250217 PMID:30976738 PMID:34555379 NCBI chr 4:63,076,185...63,090,382
Ensembl chr 4:63,083,867...63,090,368 		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 domain containing 19 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 OMIM
ClinVar		 PMID:25741909 PMID:32737136 PMID:33853651 NCBI chr 2:119,039,088...119,047,531
Ensembl chr 2:119,039,098...119,047,530 		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 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 More... NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      endocrine system disease 6291
        liver disease 2939
          intrahepatic cholestasis 139
            Alagille syndrome + 12
            Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease 0
            benign recurrent intrahepatic cholestasis + 2
            congenital bile acid synthesis defect 4 2
            intrahepatic cholestasis of pregnancy + 7
            primary biliary cholangitis + 102
            progressive familial intrahepatic cholestasis + 12
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      gastrointestinal system disease 6748
        hepatobiliary disease 3053
          biliary tract disease 548
            bile duct disease 503
              cholestasis 348
                intrahepatic cholestasis 139
                  Alagille syndrome + 12
                  Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease 0
                  benign recurrent intrahepatic cholestasis + 2
                  congenital bile acid synthesis defect 4 2
                  intrahepatic cholestasis of pregnancy + 7
                  primary biliary cholangitis + 102
                  progressive familial intrahepatic cholestasis + 12
paths to the root