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: cholestasis
Accession: DOID:13580
browse the term
Definition: A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. (DO)
Synonyms: exact_synonym: Biliary Stases; bile duct obstruction; bile duct obstructions; bile occlusion; biliary stasis; cholestases; obstruction of bile duct
primary_id: MESH:D002779
xref: ICD10CM:K83.1 ; ICD9CM:576.2 ; NCI:C83006
For additional species annotation, visit the
Alliance of Genome Resources .
GViewer not supported for the selected species.
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Abcb11
ATP binding cassette subfamily B member 11
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver mRNA:altered expression:liver (rat)
CTD RGD
PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 PMID:27593105 PMID:29087027 More...
RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Abcc2
ATP binding cassette subfamily C member 2
treatment disease_progression
ISO
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) mRNA,protein:decreased expression:intestine:
CTD RGD
PMID:10869290 PMID:12702498 PMID:15057744 PMID:16037978 PMID:17009103 PMID:17681005 PMID:22521610 PMID:27090119 More...
RGD:11081007 RGD:11081011 RGD:15090804 RGD:1598571 RGD:1598614
NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
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Abcc3
ATP binding cassette subfamily C member 3
ISO
protein:increased expression:liver CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18096675 PMID:22461449 PMID:23486593
RGD:11535162 RGD:2301060
NCBI chrNW_004955451:11,087,246...11,130,108
Ensembl chrNW_004955451:11,087,570...11,130,482
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Abcc4
ATP binding cassette subfamily C member 4 (PEL blood group)
treatment
ISO
protein:altered expression:kidney, liver
RGD
PMID:15030973 PMID:30223280
RGD:15045612 RGD:2301085
NCBI chrNW_004955404:14,700,808...14,927,944
Ensembl chrNW_004955404:14,700,808...14,928,617
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Abcg5
ATP binding cassette subfamily G member 5
ISO
RGD
PMID:16764892
RGD:1598662
NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
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Abcg8
ATP binding cassette subfamily G member 8
ISO
RGD
PMID:16764892
RGD:1598662
NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
mRNA, protein:increased expression, increased activity:liver, plasma (rat)
RGD
PMID:19652891
RGD:2315953
NCBI chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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Alb
albumin
ISO
RGD
PMID:6431134
RGD:11035297
NCBI chrNW_004955447:9,327...21,212
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Aldh1b1
aldehyde dehydrogenase 1 family member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955419:28,155,174...28,159,752
Ensembl chrNW_004955419:28,155,174...28,159,752
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Aldh1l1
aldehyde dehydrogenase 1 family member L1
treatment
ISO
RGD
PMID:30223280
RGD:15045612
NCBI chrNW_004955421:21,420,264...21,506,004
Ensembl chrNW_004955421:21,420,147...21,527,037
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Aldh8a1
aldehyde dehydrogenase 8 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955439:1,773,884...1,794,325
Ensembl chrNW_004955439:1,773,861...1,794,328
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Apoc3
apolipoprotein C3
ISO
RGD
PMID:17201892
RGD:10054045
NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
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Apoe
apolipoprotein E
ISO
associated with Pancreatic Neoplasms;protein:increased expression:plasma
RGD
PMID:19055369
RGD:2317548
NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
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Arg1
arginase 1
ISO
protein:altered activity:liver (rat)
RGD
PMID:15916970
RGD:4143230
NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
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Bcat1
branched chain amino acid transaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
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Blvra
biliverdin reductase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18706437
NCBI chrNW_004955460:129,077...167,345
Ensembl chrNW_004955460:125,854...167,506
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Bmal1
basic helix-loop-helix ARNT like 1
ISO
mRNA:increased expression:cholangiocyte
RGD
PMID:21757639
RGD:10043349
NCBI chrNW_004955414:28,652,663...28,748,360
Ensembl chrNW_004955414:28,684,226...28,748,360
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Btg3
BTG anti-proliferation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955407:18,927,211...18,939,576
Ensembl chrNW_004955407:18,927,211...18,941,424
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Cadps2
calcium dependent secretion activator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955479:3,961,877...4,485,710
Ensembl chrNW_004955479:3,961,731...4,485,710
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21339256 PMID:27989131
RGD:5130873
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Cd14
CD14 molecule
ISO
RGD
PMID:22511970
RGD:7183752
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Cd44
CD44 molecule (IN blood group)
ISO
protein:decreased expression:jejunum, ileum
RGD
PMID:16804311
RGD:2289372
NCBI chrNW_004955422:11,106,061...11,189,951
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Cftr
CF transmembrane conductance regulator
ISO
mRNA,Protein:increased expression
RGD
PMID:15605366
RGD:1599598
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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Clock
clock circadian regulator
ISO
mRNA:increased expression:cholangiocyte
RGD
PMID:21757639
RGD:10043349
NCBI chrNW_004955447:15,394,496...15,537,969
Ensembl chrNW_004955447:15,454,630...15,530,906
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26884397
NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320
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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26884397
NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069
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Col1a1
collagen type I alpha 1 chain
treatment
ISO
mRNA:increased expression:liver (rat) mRNA:increased expression:liver (mouse)
RGD
PMID:21274875 PMID:22094456 PMID:22824087
RGD:8552675 RGD:8552699 RGD:8552776
NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
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Cp
ceruloplasmin
ISO
protein:increased expression:serum
RGD
PMID:29523470
RGD:14401716
NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
associated with Chronic Hepatitis C; protein:increased expression:serum:
RGD
PMID:30507970
RGD:27095896
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Dgat2
diacylglycerol O-acyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955414:16,059,781...16,089,727
Ensembl chrNW_004955414:16,059,781...16,089,727
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Dnajb9
DnaJ heat shock protein family (Hsp40) member B9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955410:12,814,993...12,820,852
Ensembl chrNW_004955410:12,814,479...12,822,777
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Dnajc12
DnaJ heat shock protein family (Hsp40) member C12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955425:20,202,264...20,236,416
Ensembl chrNW_004955425:20,200,239...20,236,408
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
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Eng
endoglin
ISO
protein:increased expression:liver (rat)
RGD
PMID:21146604
RGD:7257529
NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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Erlec1
endoplasmic reticulum lectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955441:19,535,425...19,557,960
Ensembl chrNW_004955441:19,535,425...19,557,458
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F2rl3
F2R like thrombin or trypsin receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20974703
NCBI chrNW_004955524:1,045,493...1,047,924
Ensembl chrNW_004955524:1,044,792...1,047,819
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Fga
fibrinogen alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20974703
NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
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G6pd
glucose-6-phosphate dehydrogenase
ISO
RGD
PMID:18802767
RGD:2307352
NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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Ghr
growth hormone receptor
ISO
mRNA,protein:decreased expression:liver, skeletal muscle:
RGD
PMID:15604202
RGD:11567216
NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
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Gstp1
glutathione S-transferase pi 1
treatment
ISO
RGD
PMID:23960717
RGD:10401941
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
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Gtpbp2
GTP binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955437:9,414,128...9,425,671
Ensembl chrNW_004955437:9,412,934...9,424,365
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Hacl1
2-hydroxyacyl-CoA lyase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432
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Hao2
hydroxyacid oxidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955435:22,380,395...22,404,426
Ensembl chrNW_004955435:22,380,388...22,404,052
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Hjv
hemojuvelin BMP co-receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955568:80,386...84,707
Ensembl chrNW_004955568:80,444...84,834
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Hoga1
4-hydroxy-2-oxoglutarate aldolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955507:3,687,449...3,711,939
Ensembl chrNW_004955507:3,687,769...3,711,151
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25526675
NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Id1
inhibitor of DNA binding 1, HLH protein
ISO
protein:increased expression:liver, nucleus (rat)
RGD
PMID:16628634
RGD:9686088
NCBI chrNW_004955422:29,337,969...29,339,178
Ensembl chrNW_004955422:29,337,757...29,339,178
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Id4
inhibitor of DNA binding 4, HLH protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955483:6,598,804...6,601,496
Ensembl chrNW_004955483:6,600,867...6,602,564
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Igf1
insulin like growth factor 1
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:12826230 PMID:18607346
RGD:10046052
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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Il1a
interleukin 1 alpha
ISO
protein:increased expression:liver
RGD
PMID:19535096
RGD:2311076
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il2
interleukin 2
treatment
ISO
RGD
PMID:29698570
RGD:14928214
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Il4
interleukin 4
ISO
RGD
PMID:20031157
RGD:2317270
NCBI chrNW_004955408:4,058,052...4,065,999
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461449
NCBI chrNW_004955410:25,079,835...25,084,390
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Invs
inversin
ISO
RGD
PMID:10421642
RGD:155791685
NCBI chrNW_004955419:25,445,404...25,584,244
Ensembl chrNW_004955419:25,444,582...25,581,201
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Kank1
KN motif and ankyrin repeat domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955434:5,247,278...5,279,043
Ensembl chrNW_004955434:5,191,846...5,279,739
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Kmt2b
lysine methyltransferase 2B
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:21330447
RGD:9588602
NCBI chrNW_004955468:2,813,183...2,834,326
Ensembl chrNW_004955468:2,813,496...2,834,326
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Lamp2
lysosomal associated membrane protein 2
ISO
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622
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LOC102004889
sterol 26-hydroxylase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15795599
NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
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LOC102008593
cholesterol 7-alpha-monooxygenase
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9797378 PMID:22461449 PMID:29655695
RGD:15090803
NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
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LOC102010322
cytochrome P450 1A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27565560
NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942
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LOC102019604
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461449
NCBI chrNW_004955420:27,988,067...27,990,637
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LOC102021597
alpha-1-antiproteinase S-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4117022
NCBI chrNW_004955438:17,920,200...17,929,105
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LOC102022645
25-hydroxycholesterol 7-alpha-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9802883
NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
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Ly96
lymphocyte antigen 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955444:6,356,121...6,387,350
Ensembl chrNW_004955444:6,356,154...6,387,529
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Maob
monoamine oxidase B
ISO
protein:altered activity:hypothalamus (rat)
RGD
PMID:18802767
RGD:2307352
NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
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Mapk13
mitogen-activated protein kinase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chrNW_004955437:3,899,988...3,907,781
Ensembl chrNW_004955437:3,899,950...3,909,114
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Mapk14
mitogen-activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
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Mboat1
membrane bound glycerophospholipid O-acyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955483:6,273,729...6,379,844
Ensembl chrNW_004955483:6,273,729...6,381,559
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Mmp2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:21274875
RGD:8552699
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20977460
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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Nfxl1
nuclear transcription factor, X-box binding like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955443:665,235...714,627
Ensembl chrNW_004955443:668,031...713,481
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Niban1
niban apoptosis regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955406:23,437,430...23,523,307
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12612912 PMID:20626112
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Nos3
nitric oxide synthase 3
ISO
protein:decreased activity:liver (rat)
RGD
PMID:11352814
RGD:7775033
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Cholestasis
ClinVar
PMID:15776426 PMID:22550138 PMID:25741868 PMID:28492532 PMID:28700940
NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488
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Npl
N-acetylneuraminate pyruvate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22461449 PMID:28337145
RGD:13439750
NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604
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Nr1d1
nuclear receptor subfamily 1 group D member 1
ISO
RGD
PMID:24497272
RGD:10448995
NCBI chrNW_004955451:14,743,763...14,750,903
Ensembl chrNW_004955451:14,742,735...14,750,999
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Nr1h2
nuclear receptor subfamily 1 group H member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17256725
NCBI chrNW_004955559:731,630...736,973
Ensembl chrNW_004955559:730,670...737,505
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Nr1h3
nuclear receptor subfamily 1 group H member 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17256725
NCBI chrNW_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049
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Nr1h4
nuclear receptor subfamily 1 group H member 4
treatment severity
ISO
mRNA:altered expression:liver (rat) CTD Direct Evidence: marker/mechanism mRNA:increased expression:ileum (rat) mutant FXR-/- mouse mRNA, protein:altered expression:liver (rat)
RGD CTD
PMID:12949728 PMID:22461449 PMID:23178280 PMID:27090119 PMID:29235094 PMID:30061734 PMID:30077711 PMID:30223280 More...
RGD:14701031 RGD:15042872 RGD:15045597 RGD:15045612 RGD:15090804 RGD:15092071
NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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Nr1i2
nuclear receptor subfamily 1 group I member 2
disease_progression
ISO
RGD
PMID:29204052
RGD:13782189
NCBI chrNW_004955427:19,459,936...19,487,276
Ensembl chrNW_004955427:19,459,936...19,487,276
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Nr1i3
nuclear receptor subfamily 1 group I member 3
disease_progression
ISO
RGD
PMID:29204052
RGD:13782189
NCBI chrNW_004955468:12,985,105...13,002,850
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Otc
ornithine transcarbamylase
ISO
protein:decreased activity:liver (rat)
RGD
PMID:15916970
RGD:4143230
NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
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Pan2
poly(A) specific ribonuclease subunit PAN2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955458:3,925,356...3,946,879
Ensembl chrNW_004955458:3,926,070...3,941,506
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Pdgfb
platelet derived growth factor subunit B
ISO
mRNA,protein:increased expression:cholangiocyte, bible duct:
RGD
PMID:10424289
RGD:10449495
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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Pdyn
prodynorphin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16919318
NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515
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Pgcka1
PDCD10 and GCKIII kinases associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955443:9,540,047...9,628,483
Ensembl chrNW_004955443:9,540,825...9,565,119
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3421781
NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
treatment
ISO
mRNA:altered expression:liver (rat)
RGD
PMID:27090119
RGD:15090804
NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
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Pygm
glycogen phosphorylase, muscle associated
ISO
mRNA:decreased expression:liver
RGD
PMID:11804660
RGD:1599990
NCBI chrNW_004955422:20,411,480...20,424,676
Ensembl chrNW_004955422:20,411,480...20,424,931
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Rdx
radixin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17681005
NCBI chrNW_004955412:12,100,436...12,184,444
Ensembl chrNW_004955412:12,100,359...12,172,545
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Reep5
receptor accessory protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955418:2,504,028...2,539,574
Ensembl chrNW_004955418:2,502,674...2,536,817
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Rflnb
refilin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955481:2,102,576...2,107,947
Ensembl chrNW_004955481:2,102,586...2,107,967
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Serpina5
serpin family A member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955438:17,787,398...17,796,013
Ensembl chrNW_004955438:17,787,399...17,796,414
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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Slc10a1
solute carrier family 10 member 1
treatment
ISO
mRNA:altered expression:liver (rat)
RGD
PMID:27090119 PMID:29655695
RGD:15090803 RGD:15090804
NCBI chrNW_004955466:597,081...609,254
Ensembl chrNW_004955466:597,204...608,756
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Slc10a7
solute carrier family 10 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955428:1,999,341...2,250,201
Ensembl chrNW_004955428:1,999,280...2,250,234
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Slc16a2
solute carrier family 16 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955562:305,850...455,764
Ensembl chrNW_004955562:306,051...458,889
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Slc23a1
solute carrier family 23 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18706437
NCBI chrNW_004955418:1,176,390...1,192,270
Ensembl chrNW_004955418:1,176,000...1,186,940
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Slc23a2
solute carrier family 23 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18706437
NCBI chrNW_004955415:15,565,344...15,677,935
Ensembl chrNW_004955415:15,565,249...15,642,153
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Slc30a10
solute carrier family 30 member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955520:3,631,192...3,641,595
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Slc51a
solute carrier family 51 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920 PMID:22461449
NCBI chrNW_004955420:12,452,562...12,463,369
Ensembl chrNW_004955420:12,453,554...12,463,150
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Slc51b
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920 PMID:22461449
NCBI chrNW_004955450:10,365,554...10,374,209
Ensembl chrNW_004955450:10,365,554...10,374,209
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Slco1a2
solute carrier organic anion transporter family member 1A2
treatment
ISO
mRNA:altered expression:liver (rat)
RGD
PMID:27090119
RGD:15090804
NCBI chrNW_004955413:16,821,808...16,910,511
Ensembl chrNW_004955413:16,821,791...16,912,903
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Snai1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chrNW_004955445:8,232,084...8,237,893
Ensembl chrNW_004955445:8,231,924...8,237,996
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Sorl1
sortilin related receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179
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Sort1
sortilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28453831
NCBI chrNW_004955435:12,725,952...12,819,280
Ensembl chrNW_004955435:12,730,270...12,819,029
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Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158
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Spint2
serine peptidase inhibitor, Kunitz type 2
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chrNW_004955468:1,142,718...1,181,210
Ensembl chrNW_004955468:1,143,118...1,169,632
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Srp72
signal recognition particle 72
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955447:14,519,978...14,552,758
Ensembl chrNW_004955447:14,519,064...14,552,758
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Sult2b1
sulfotransferase family 2B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27052460
NCBI chrNW_004955559:1,942,878...1,968,895
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
RGD
PMID:8707259
RGD:2290364
NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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Tjp1
tight junction protein 1
ISO
protein:increased expression:liver
RGD
PMID:18197414
RGD:2325141
NCBI chrNW_004955416:28,640,807...28,869,717
Ensembl chrNW_004955416:28,654,905...28,870,555
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Tlr2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tmem117
transmembrane protein 117
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955500:3,097,088...3,566,616
Ensembl chrNW_004955500:3,087,715...3,568,105
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Uba5
ubiquitin like modifier activating enzyme 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953
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Usp53
ubiquitin specific peptidase 53
ISO
ClinVar Annotator: match by term: Cholestasis
ClinVar
PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 PMID:34608165
NCBI chrNW_004955428:20,957,807...21,023,380
Ensembl chrNW_004955428:20,957,807...21,023,380
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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 chrNW_004955484:7,501,784...7,531,757
Ensembl chrNW_004955484:7,500,613...7,531,198
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
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Vil1
villin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011
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Vps33b
VPS33B late endosome and lysosome associated
ISO
ARC syndrome, OMIM:208085
RGD
PMID:15052268
RGD:1599749
NCBI chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102
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Wipi1
WD repeat domain, phosphoinositide interacting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chrNW_004955478:4,309,975...4,341,107
Ensembl chrNW_004955478:4,309,880...4,343,934
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Unc45a
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia 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: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC | ClinVar Annotator: match by term: Hepatofacioneurocardiovertebral syndrome
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: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: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:26463753 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 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:39043182 More...
NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917
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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
ClinVar
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:31749841 More...
NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
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Ankef1
ankyrin repeat and EF-hand domain containing 1
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:19,967,234...19,988,725
Ensembl chrNW_004955415:19,967,234...19,993,481
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Hao1
hydroxyacid oxidase 1
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:17,981,791...18,035,151
Ensembl chrNW_004955415:17,981,791...18,035,224
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Alagille Syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
OMIM ClinVar
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 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:24684524 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:28444304 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:36474027 PMID:36729644 PMID:36973604 PMID:37600608 PMID:39043182 More...
NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917
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Lamp5
lysosomal associated membrane protein family member 5
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:19,488,533...19,502,599
Ensembl chrNW_004955415:19,488,527...19,502,640
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Mkks
MKKS centrosomal shuttling protein
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:20,292,311...20,315,850
Ensembl chrNW_004955415:20,292,663...20,300,797
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Pak5
p21 (RAC1) activated kinase 5
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:19,509,727...19,826,087
Ensembl chrNW_004955415:19,511,822...19,619,663
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Plcb1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158
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Plcb4
phospholipase C beta 4
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:19,108,120...19,462,084
Ensembl chrNW_004955415:19,310,917...19,463,098
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Slx4ip
SLX4 interacting protein
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:20,316,664...20,478,786
Ensembl chrNW_004955415:20,394,192...20,481,249
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023
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Tmx4
thioredoxin related transmembrane protein 4
ISO
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation
ClinVar
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chrNW_004955415:18,055,257...18,100,705
Ensembl chrNW_004955415:18,054,323...18,101,446
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Alagille syndrome 2
OMIM ClinVar
PMID:16773578 PMID:21378985 PMID:22209782 PMID:23389697 PMID:24728327 PMID:25016221 PMID:25741868 PMID:26627824 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:29698804 PMID:30143558 PMID:30366773 PMID:31749841 PMID:32164334 PMID:32368696 More...
NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
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Vipas39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
ISO
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome
ClinVar
PMID:20190753 PMID:25741868
NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
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Vps33b
VPS33B late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102
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Ada2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1
ClinVar
PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619
NCBI chrNW_004955454:5,341,822...5,355,383
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1
ClinVar
PMID:25741868
NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
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Vipas39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
ISO
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1
ClinVar
PMID:25741868 PMID:31319225
NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
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Vps33b
VPS33B late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1
OMIM ClinVar
PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17576681 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:23918659 PMID:24782640 PMID:24917129 PMID:25239142 PMID:25741868 PMID:26505894 PMID:28017832 PMID:28492532 PMID:29907094 PMID:31343487 PMID:31463585 PMID:31479177 PMID:31777725 PMID:35126127 More...
NCBI chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102
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Vipas39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
ISO
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 | ClinVar Annotator: match by term: VIPAS39-related condition
OMIM ClinVar
PMID:20190753 PMID:22753090 PMID:23002115 PMID:25741868 PMID:26019847 PMID:26808426 PMID:28492532 PMID:31479177 More...
NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: SUMMERSKILL SYNDROME | ClinVar Annotator: match by term: Summerskill syndrome
OMIM ClinVar
PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 PMID:12927934 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:15975683 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:26678486 PMID:26858187 PMID:26879107 PMID:27050426 PMID:27530795 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:32650689 PMID:32695736 PMID:32942997 PMID:33437900 PMID:33666275 PMID:34016879 PMID:35416773 PMID:35431768 PMID:35894240 More...
NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2
OMIM ClinVar
PMID:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 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:27493120 PMID:28027573 PMID:28119944 PMID:28425419 PMID:28454995 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29316097 PMID:29404523 PMID:29412511 PMID:29625052 PMID:29992621 PMID:30210030 PMID:30366773 PMID:31015375 PMID:31091858 PMID:31296176 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 PMID:35257483 PMID:35780807 PMID:35894240 PMID:37471416 More...
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21356120
RGD:5686894
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Cd14
CD14 molecule
disease_progression
ISO
mRNA, protein:increased expression:liver, plasma:
RGD
PMID:21172039
RGD:7184431
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:serum (human)
RGD
PMID:24493287
RGD:26884361
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Dlk1
delta like non-canonical Notch ligand 1
ISO
RGD
PMID:14743499
RGD:1625622
NCBI chrNW_004955627:37,886...43,730
Ensembl chrNW_004955627:38,128...43,728
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Ggt1
gamma-glutamyltransferase 1
disease_progression
ISO
RGD
PMID:29056230
RGD:14701039
NCBI chrNW_004955455:8,082,578...8,099,523
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Gli2
GLI family zinc finger 2
disease_progression
ISO
RGD
PMID:25746691
RGD:12802349
NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499
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Hamp
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16627878
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
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Icam1
intercellular adhesion molecule 1
susceptibility
ISO
DNA:missense mutation:cds:p.G241R (human)
RGD
PMID:18401716
RGD:14402043
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Il18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) protein:increased expression:serum:
RGD
PMID:10726686 PMID:30059753
RGD:14695528 RGD:14695529
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Pten
phosphatase and tensin homolog
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:25487473
RGD:12832754
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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Shh
sonic hedgehog signaling molecule
disease_progression
ISO
RGD
PMID:25746691
RGD:12802349
NCBI chrNW_004955491:8,647,133...8,657,381
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Sox17
SRY-box transcription factor 17
ISO
MouseDO
NCBI chrNW_004955454:13,689,403...13,690,019
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Spint1
serine peptidase inhibitor, Kunitz type 1
disease_progression
ISO
mRNA,protein:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158
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Spint2
serine peptidase inhibitor, Kunitz type 2
ISO
mRNA,protein:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chrNW_004955468:1,142,718...1,181,210
Ensembl chrNW_004955468:1,143,118...1,169,632
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15845635
RGD:1581370
NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
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Tgfb1
transforming growth factor beta 1
treatment
ISO
RGD
PMID:30686515
RGD:14985228
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Ahi1
Abelson helper integration site 1
ISO
ClinVar Annotator: match by term: Joubert syndrome with ocular defect
ClinVar
PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038 More...
NCBI chrNW_004955439:1,277,185...1,460,296
Ensembl chrNW_004955439:1,276,760...1,474,202
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Ofd1
OFD1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar
PMID:16783569 PMID:18546297 PMID:23033313 PMID:25741868 PMID:27081566 PMID:28492532 PMID:29193896 PMID:31373179 More...
NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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Tmem67
transmembrane protein 67
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations: :multiple
CTD RGD
PMID:19058225 PMID:19574260
RGD:11535944 RGD:11535946
NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: COACH syndrome 1
ClinVar
PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:28492532 PMID:28518168 PMID:29146704 PMID:29620724 PMID:30609409 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:33084218 PMID:34426522 PMID:34448047 PMID:34758253 PMID:36788019 More...
NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
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Rpgrip1l
RPGRIP1 like
ISO
ClinVar Annotator: match by term: COACH syndrome 1
ClinVar
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31390572 PMID:32483926 More...
NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: COACH syndrome 1
OMIM ClinVar
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16415887 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26546361 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29096039 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30266093 PMID:30476936 PMID:31411728 PMID:32000717 PMID:32404165 PMID:32939031 PMID:34675960 PMID:36090483 PMID:36617405 More...
NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: COACH syndrome 2
OMIM ClinVar
PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28125082 PMID:28492532 PMID:31964843 PMID:32488064 PMID:34194672 More...
NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
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Rpgrip1l
RPGRIP1 like
ISO
ClinVar Annotator: match by term: COACH syndrome 3
OMIM ClinVar
PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18565097 PMID:19430481 PMID:19574260 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:31980526 PMID:32483926 More...
NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569
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Akr1d1
aldo-keto reductase family 1 member D1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect
ClinVar
PMID:15030995 PMID:20522910 PMID:23160874 PMID:25741868
NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect
ClinVar
PMID:12679481 PMID:25741868
NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
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LOC102022645
25-hydroxycholesterol 7-alpha-hydroxylase
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
ClinVar Annotator: match by term: 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition
OMIM ClinVar
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 PMID:28492532 PMID:32183854 PMID:34627351 More...
NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
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Akr1d1
aldo-keto reductase family 1 member D1
ISO
ClinVar Annotator: match by term: AKR1D1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
OMIM ClinVar
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 PMID:19175828 PMID:20522910 PMID:21185810 PMID:23160874 PMID:23679950 PMID:25741868 PMID:28492532 PMID:30809085 PMID:31450232 PMID:33258288 PMID:35626323 PMID:37314652 PMID:38062451 More...
NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
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LOC102022645
25-hydroxycholesterol 7-alpha-hydroxylase
ISO
ClinVar Annotator: match by term: CYP7B1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3
OMIM ClinVar
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:17503452 PMID:17576681 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21541746 PMID:21567895 PMID:21623769 PMID:22384504 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24482476 PMID:24519355 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25324891 PMID:25326637 PMID:25741868 PMID:26374131 PMID:26467025 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29980238 PMID:31589614 PMID:31692161 PMID:33160247 PMID:34234304 PMID:34426522 PMID:34983064 More...
NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
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Amacr
alpha-methylacyl-CoA racemase
ISO
ClinVar Annotator: match by term: AMACR-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
OMIM ClinVar
PMID:9584266 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 More...
NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
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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 chrNW_004955426:19,498,942...19,530,628
Ensembl chrNW_004955426:19,498,942...19,530,628
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Abcd3
ATP binding cassette subfamily D member 3
ISO
ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5
OMIM ClinVar
PMID:25168382 PMID:25741868 PMID:28492532
NCBI chrNW_004955423:280,497...359,711
Ensembl chrNW_004955423:280,497...359,711
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Acox2
acyl-CoA oxidase 2
ISO
ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27647924 PMID:27884763 PMID:28492532 PMID:35395098 PMID:35775617 More...
NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141
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Abca1
ATP binding cassette subfamily A member 1
ISO
mRNA,protein:increased expression:liver, basolateral plasma membrane (rat)
RGD
PMID:28660384
RGD:21203516
NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
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Abcc4
ATP binding cassette subfamily C member 4 (PEL blood group)
treatment
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:29360226
RGD:14995480
NCBI chrNW_004955404:14,700,808...14,927,944
Ensembl chrNW_004955404:14,700,808...14,928,617
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:31932644
NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955447:9,327...21,212
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
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Cd68
CD68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:31932644
NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
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Crh
corticotropin releasing hormone
ISO
protein:decreased expression:hypothalamus (rat)
RGD
PMID:8387536
RGD:5490980
NCBI chrNW_004955444:12,989,210...12,991,300
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Cygb
cytoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955506:5,766,006...5,775,722
Ensembl chrNW_004955506:5,766,006...5,775,784
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
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Gjb1
gap junction protein beta 1
ISO
mRNA,protein:decreased expression:liver:
RGD
PMID:7762611
RGD:7349397
NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
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Gjb2
gap junction protein beta 2
ISO
RGD
PMID:7762611
RGD:7349397
NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
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Hamp
hepcidin antimicrobial peptide
ISO
mRNA:decreased expression:liver
RGD
PMID:19652645
RGD:11041639
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
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Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
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Hmgcs2
3-hydroxy-3-methylglutaryl-CoA synthase 2
ISO
mRNA, protein:decreased expression:liver, mitochondrion (rat)
RGD
PMID:12399220
RGD:2326121
NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
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Hnf1a
HNF1 homeobox A
ISO
mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat)
RGD
PMID:15723437
RGD:14700989
NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955410:25,079,835...25,084,390
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955464:1,107,598...1,110,326
G
Keap1
kelch like ECH associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290
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Lgals1
galectin 1
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:18225978
RGD:2316551
NCBI chrNW_004955413:24,072,086...24,075,452
Ensembl chrNW_004955413:24,072,086...24,075,452
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LOC102004889
sterol 26-hydroxylase, mitochondrial
treatment
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:29360226
RGD:14995480
NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
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LOC102008593
cholesterol 7-alpha-monooxygenase
treatment
ISO
mRNA:decreased expression:liver, nucleus (rat) mRNA:decreased expression:liver (rat)
RGD
PMID:28660384 PMID:29360226
RGD:14995480 RGD:21203516
NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
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LOC102019604
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
treatment
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:29360226
RGD:14995480
NCBI chrNW_004955420:27,988,067...27,990,637
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Map3k7
mitogen-activated protein kinase kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955411:17,177,335...17,229,957
Ensembl chrNW_004955411:17,177,335...17,229,957
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Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
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Mapk14
mitogen-activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
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Mapk3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
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Mapk9
mitogen-activated protein kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955408:391,094...430,638
Ensembl chrNW_004955408:391,094...430,981
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:31900718
RGD:21201303
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Nr1h4
nuclear receptor subfamily 1 group H member 4
disease_progression treatment
ISO
protein:increased expression:liver (rat) mRNA:increased expression:liver (rat) human gene in mouse model
RGD
PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226
RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205
NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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Oprm1
opioid receptor mu 1
ISO
mRNA:decreased expression:hypothalamus, hippocampus
RGD
PMID:25290008
RGD:401842371
NCBI chrNW_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817
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Pdgfrb
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:18466260
RGD:10449503
NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
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Ptn
pleiotrophin
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:18225978
RGD:2316551
NCBI chrNW_004955494:5,580,264...5,681,848
Ensembl chrNW_004955494:5,580,422...5,684,190
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:30026087
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Setd7
SET domain containing 7, histone lysine methyltransferase
treatment
ISO
RGD
PMID:24097032
RGD:9491846
NCBI chrNW_004955428:4,131,431...4,178,250
Ensembl chrNW_004955428:4,131,103...4,178,250
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Slc22a2
solute carrier family 22 member 2
ISO
protein:increased expression:kidney
RGD
PMID:20814153
RGD:7243879
NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
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Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:30026087 PMID:31932644
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
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Tlr4
toll like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Familial primary biliary cirrhosis
ClinVar
PMID:25741868 PMID:28492532 PMID:32439973
NCBI chrNW_004955434:3,781,368...3,923,240
Ensembl chrNW_004955434:3,781,113...3,923,391
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LOC102007967
mitochondrial chaperone BCS1
ISO
ClinVar Annotator: match by term: GRACILE syndrome
OMIM ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20472482 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:22991165 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 More...
NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome
OMIM ClinVar
PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30006928 PMID:32174975 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 More...
NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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Ank1
ankyrin 1
severity
ISO
DNA:deletion mutation:exon: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
RGD ClinVar
PMID:14671619 PMID:25741868 PMID:28492532
RGD:11251681
NCBI chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
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Dhodh
dihydroorotate dehydrogenase (quinone)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466
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Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
PMID:28492532
NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194
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Gpi
glucose-6-phosphate isomerase
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar
PMID:25741868
NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
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Klf1
KLF transcription factor 1
ISO
DNA:missense mutation:exon:p.E339D (1065A>T) (human)
RGD MouseDO
PMID:20691777
RGD:10769342
NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar
PMID:25741868 PMID:28492532 PMID:36231035
NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103
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Spta1
spectrin alpha, erythrocytic 1
ISO
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
PMID:2794061 PMID:3597773 PMID:8857939 PMID:8941647 PMID:15384986 PMID:18815189 PMID:23974198 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:30976395 PMID:31038472 PMID:31130284 PMID:31147440 PMID:31333484 PMID:31539204 PMID:31723846 PMID:32641076 PMID:32751168 PMID:37400730 More...
NCBI chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313
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Sptb
spectrin beta, erythrocytic
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar
PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899
NCBI chrNW_004955466:5,013,963...5,170,186
Ensembl chrNW_004955466:5,097,116...5,167,596
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Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
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Add2
adducin 2
ISO
OMIM:182900
MouseDO
NCBI chrNW_004955424:14,411,279...14,517,813
Ensembl chrNW_004955424:14,411,124...14,517,813
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Ank1
ankyrin 1
ISO
ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
OMIM ClinVar
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 PMID:9887280 PMID:11102985 PMID:11167760 PMID:11372755 PMID:11527968 PMID:12899723 PMID:15071790 PMID:16037067 PMID:16199547 PMID:17327413 PMID:17576681 PMID:21099109 PMID:22573887 PMID:23322884 PMID:24033266 PMID:25741868 PMID:26830532 PMID:27292444 PMID:27399967 PMID:27427187 PMID:28102861 PMID:28492532 PMID:29396846 PMID:29449435 PMID:29572776 PMID:29597199 PMID:30207817 PMID:31016877 PMID:31122244 PMID:31602632 PMID:31669644 PMID:31723846 PMID:31980736 PMID:32036089 PMID:32436265 PMID:32641076 PMID:32702754 PMID:33014018 PMID:33074480 PMID:33116287 PMID:33620149 PMID:33868383 PMID:34131631 PMID:34307574 PMID:34335240 PMID:34953813 PMID:35022413 PMID:36071563 PMID:36203343 PMID:36468602 PMID:36544651 PMID:36598564 PMID:36816036 PMID:38592584 More...
NCBI chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943
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Epb42
erythrocyte membrane protein band 4.2
ISO
OMIM:182900
MouseDO
NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194
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Spta1
spectrin alpha, erythrocytic 1
ISO
OMIM:182900
MouseDO
NCBI chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313
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Myh2
myosin heavy chain 2
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 2
ClinVar
PMID:25741868
NCBI chrNW_004955467:6,655,346...6,681,354
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Plekhg3
pleckstrin homology and RhoGEF domain containing G3
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition
ClinVar
PMID:25741868
NCBI chrNW_004955466:5,172,603...5,212,518
Ensembl chrNW_004955466:5,173,213...5,188,381
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Sptb
spectrin beta, erythrocytic
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition
OMIM ClinVar
PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 PMID:8667615 PMID:8844207 PMID:9536098 PMID:9714702 PMID:11703334 PMID:17576681 PMID:19538529 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28102861 PMID:28492532 PMID:29572776 PMID:29758562 PMID:30198572 PMID:30486584 PMID:31122244 PMID:31126250 PMID:31602632 PMID:31723846 PMID:31807509 PMID:31980736 PMID:32436265 PMID:32596782 PMID:32641076 PMID:33014018 PMID:33074480 PMID:33868383 PMID:34140613 PMID:34182956 PMID:34335240 PMID:35406697 PMID:36071563 PMID:36135330 PMID:36203343 PMID:38069343 PMID:38556258 PMID:38592584 More...
NCBI chrNW_004955466:5,013,963...5,170,186
Ensembl chrNW_004955466:5,097,116...5,167,596
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Spta1
spectrin alpha, erythrocytic 1
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis type 3
OMIM ClinVar
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:9192783 PMID:15071791 PMID:15384986 PMID:18218854 PMID:18815189 PMID:21212007 PMID:23241237 PMID:24033266 PMID:24895341 PMID:25741868 PMID:26002053 PMID:27292444 PMID:27667160 PMID:27863252 PMID:28492532 PMID:29105823 PMID:29396846 PMID:30267408 PMID:31038472 PMID:31040790 PMID:31147440 PMID:31333484 PMID:31364155 PMID:31602632 PMID:31723846 PMID:31854503 PMID:32266426 PMID:32436265 PMID:32581362 PMID:32888494 PMID:33074880 PMID:35351432 PMID:35845192 PMID:35950897 More...
NCBI chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:1722314 PMID:1737855 PMID:2146504 PMID:2196932 PMID:2527366 PMID:4116984 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8011524 PMID:8206915 PMID:8210309 PMID:8282779 PMID:8343110 PMID:8434259 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8640229 PMID:8704215 PMID:8873423 PMID:8943874 PMID:9012689 PMID:9207478 PMID:9233560 PMID:9312167 PMID:9565662 PMID:9600966 PMID:9734643 PMID:9854053 PMID:9973643 PMID:10403343 PMID:10580570 PMID:10745622 PMID:10766130 PMID:10926824 PMID:10942416 PMID:11155072 PMID:11208088 PMID:11380459 PMID:11934690 PMID:12081559 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:14734552 PMID:16107207 PMID:16199547 PMID:16227998 PMID:16420521 PMID:17215882 PMID:17557941 PMID:17690931 PMID:18266205 PMID:18524859 PMID:19229254 PMID:19289107 PMID:19565014 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:21039340 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:23842529 PMID:24033266 PMID:24652967 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:27058983 PMID:27292444 PMID:27718309 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:28638614 PMID:29572776 PMID:29627839 PMID:29725771 PMID:29790872 PMID:30124986 PMID:30230413 PMID:31122244 PMID:31126250 PMID:31147440 PMID:31364155 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32154456 PMID:32266426 PMID:32436265 PMID:32632909 PMID:32641076 PMID:32926342 PMID:33074480 PMID:33532864 PMID:34093240 PMID:34159584 PMID:34201899 PMID:34746046 PMID:35099593 PMID:35738466 PMID:35845192 PMID:36203343 PMID:36231035 PMID:37353797 PMID:357386466 More...
NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103
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Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 5
OMIM ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:8547071 PMID:8635206 PMID:10406914 PMID:12176912 PMID:15692067 PMID:19508687 PMID:25741868 PMID:28492532 PMID:29402830 PMID:32726712 PMID:36203343 More...
NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194
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Abcb11
ATP binding cassette subfamily B member 11
susceptibility
ISO
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
RGD 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:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24627769 PMID:25741868 PMID:25847299 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27239116 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:30210030 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32581362 PMID:32808743 PMID:32860008 PMID:33215027 PMID:33915153 PMID:34016879 PMID:35257483 More...
RGD:1598583
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Ap1s1
adaptor related protein complex 1 subunit sigma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23423674
NCBI chrNW_004955456:16,127,877...16,134,039
Ensembl chrNW_004955456:16,127,877...16,134,039
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Atp8b1
ATPase phospholipid transporting 8B1
susceptibility
ISO
DNA:mutation ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
RGD ClinVar
PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:12927934 PMID:14988830 PMID:15239083 PMID:19260995 PMID:19731236 PMID:19918981 PMID:20232290 PMID:20414253 PMID:22525741 PMID:25741868 PMID:26382629 PMID:26678486 PMID:26858187 PMID:26879107 PMID:28492532 PMID:28733223 PMID:30366773 PMID:31450232 PMID:33437900 PMID:33666275 PMID:34016879 More...
RGD:1599397
NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:serum (human)
RGD
PMID:24493287
RGD:26884361
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18364083 PMID:22094456
NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
protein:decreased activity,altered location:liver:
RGD
PMID:11383876
RGD:9685454
NCBI chrNW_004955507:2,035,918...2,141,327
Ensembl chrNW_004955507:2,036,050...2,137,377
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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 chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
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LOC102026028
cytochrome P450 2E1
ISO
RGD
PMID:29404441
RGD:14700873
NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
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Maf
MAF bZIP transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20146260
NCBI chrNW_004955522:2,514,313...2,519,694
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Mafg
MAF bZIP transcription factor G
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20146260
NCBI chrNW_004955506:1,247,294...1,252,167
Ensembl chrNW_004955506:1,247,293...1,252,167
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Nr0b2
nuclear receptor subfamily 0 group B member 2
ISO
mRNA, protein:increased expression:liver
RGD
PMID:18578998
RGD:2311605
NCBI chrNW_004955452:6,251,047...6,253,541
Ensembl chrNW_004955452:6,250,889...6,254,541
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Nr1h4
nuclear receptor subfamily 1 group H member 4
ISO
RGD
PMID:15644430
RGD:1625202
NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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Slc22a2
solute carrier family 22 member 2
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:19002567
RGD:7243885
NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
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Tjp2
tight junction protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614073
NCBI chrNW_004955434:3,781,368...3,923,240
Ensembl chrNW_004955434:3,781,113...3,923,391
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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Hdac3
histone deacetylase 3
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chrNW_004955415:12,138,520...12,154,234
Ensembl chrNW_004955415:12,138,870...12,154,234
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Il18
interleukin 18
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23627780
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28851649
NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
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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:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:12927934 PMID:15239083 PMID:15657619 PMID:15888793 PMID:15975683 PMID:19260995 PMID:19731236 PMID:19918981 PMID:20038848 PMID:20232290 PMID:20414253 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26879107 PMID:27050426 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:32650689 PMID:32695736 PMID:32942997 PMID:33223529 PMID:33666275 PMID:34016879 PMID:35416773 PMID:35431768 PMID:35894240 More...
NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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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 chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Vps50
VPS50 subunit of EARP/GARPII complex
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
ClinVar OMIM
PMID:25741868 PMID:34037727
NCBI chrNW_004955432:10,134,280...10,244,390
Ensembl chrNW_004955432:10,134,141...10,245,895
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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 chrNW_004955484:7,501,784...7,531,757
Ensembl chrNW_004955484:7,500,613...7,531,198
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Adm
adrenomedullin
ISO
protein:increased expression:plasma:
RGD
PMID:20132852
RGD:7364952
NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
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Alb
albumin
ISO
RGD
PMID:9161836
RGD:11036102
NCBI chrNW_004955447:9,327...21,212
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Cd14
CD14 molecule
ISO
mRNA:increased expression:ileum, liver, lung, spleen
RGD
PMID:25093541
RGD:9685190
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Gpt
glutamic--pyruvic transaminase
ISO
RGD
PMID:9161836
RGD:11036102
NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
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Hmbs
hydroxymethylbilane synthase
ISO
Protein:increased activity:liver (rat)
RGD
PMID:3963818
RGD:4144803
NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:liver, plasma
RGD
PMID:21737101
RGD:10402168
NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
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Pcna
proliferating cell nuclear antigen
treatment
ISO
RGD
PMID:12917765
RGD:10448973
NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673
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Tlr2
toll like receptor 2
treatment
ISO
RGD
PMID:29366780
RGD:15090858
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Ucp2
uncoupling protein 2
ISO
RGD
PMID:19632092
RGD:7204429
NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
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Unc45a
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome | ClinVar Annotator: match by term: UNC45A-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086
NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581
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Abca1
ATP binding cassette subfamily A member 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:28660384
RGD:21203516
NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver
CTD RGD
PMID:15542527 PMID:15770136
RGD:14700810
NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
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Abcg2
ATP binding cassette subfamily G member 2 (JR blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15542527
NCBI chrNW_004955474:12,365,903...12,408,715
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Ace2
angiotensin converting enzyme 2
ISO
mRNA, protein:increased expression:liver
RGD
PMID:17532087
RGD:9685452
NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495
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Agt
angiotensinogen
ISO
protein:increased expression:plasma
RGD
PMID:17532087
RGD:9685452
NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955447:9,327...21,212
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Aqp4
aquaporin 4
ISO
RGD
PMID:20451280
RGD:5148030
NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
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Ca1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chrNW_004955417:3,270,619...3,313,261
Ensembl chrNW_004955417:3,270,619...3,305,756
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Ca2
carbonic anhydrase 2
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:liver: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12126966 PMID:15770052
RGD:14995336
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:19371232
RGD:2314517
NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
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Cd14
CD14 molecule
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:21275501
RGD:407420272
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Cd3d
CD3d molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721
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Cd68
CD68 molecule
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:21275501
RGD:407420272
NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
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Cd80
CD80 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chrNW_004955427:19,237,251...19,274,001
Ensembl chrNW_004955427:19,236,445...19,261,517
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Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chrNW_004955433:22,957,718...22,994,515
Ensembl chrNW_004955433:22,967,960...22,992,924
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:18456456
RGD:8662434
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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Cenpb
centromere protein B
ISO
RGD
PMID:8911074
RGD:27226708
NCBI chrNW_004955415:14,626,154...14,628,749
Ensembl chrNW_004955415:14,626,949...14,628,748
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Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chrNW_004955442:7,369,616...7,584,052
Ensembl chrNW_004955442:7,368,952...7,584,703
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Col1a1
collagen type I alpha 1 chain
treatment
ISO
RGD
PMID:20056896
RGD:8552731
NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705
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Cpeb4
cytoplasmic polyadenylation element binding protein 4
ISO
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chrNW_004955408:26,535,281...26,597,317
Ensembl chrNW_004955408:26,535,281...26,597,547
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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) 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:17482523 PMID:21594562
RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:liver (human)
RGD
PMID:21731723
RGD:26884357
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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Cxcr5
C-X-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chrNW_004955412:20,016,768...20,031,635
Ensembl chrNW_004955412:20,016,587...20,031,629
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Cygb
cytoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955506:5,766,006...5,775,722
Ensembl chrNW_004955506:5,766,006...5,775,784
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Dag1
dystroglycan 1
ISO
mRNA:increased expression:liver
RGD
PMID:12177244
RGD:2314895
NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312
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Dennd1b
DENN domain containing 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chrNW_004955406:34,021,508...34,241,735
Ensembl chrNW_004955406:34,027,046...34,241,737
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Dnase1
deoxyribonuclease 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:28263100
RGD:38500241
NCBI chrNW_004955442:13,733,107...13,736,527
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15651265
RGD:9685530
NCBI chrNW_004955513:5,070,050...5,075,098
Ensembl chrNW_004955513:5,068,875...5,075,098
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:lymphocyte:
RGD
PMID:26429926
RGD:14700711
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Gch1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:20132096
RGD:329970291
NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614
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Hamp
hepcidin antimicrobial peptide
treatment
ISO
mRNA:decreased expression:liver
RGD
PMID:19652645 PMID:23704825
RGD:11041639 RGD:11041732
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
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Hhip
hedgehog interacting protein
ISO
mRNA:decreased expression:
RGD
PMID:18375471
RGD:11552599
NCBI chrNW_004955428:657,918...745,255
Ensembl chrNW_004955428:657,900...745,250
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22271822
NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
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Hmox1
heme oxygenase 1
ISO
mRNA, protein:increased expression:liver, lung
RGD
PMID:12114196
RGD:625603
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Icam1
intercellular adhesion molecule 1
treatment
ISO
associated with Graft vs Host Disease; protein:increased expression:serum:
RGD
PMID:10051478 PMID:11280567
RGD:11520783 RGD:597000690
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ifng
interferon gamma
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Igfbp1
insulin like growth factor binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chrNW_004955456:6,810,461...6,814,944
Ensembl chrNW_004955456:6,810,056...6,815,685
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Il10
interleukin 10
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il12a
interleukin 12A
susceptibility treatment
ISO
DNA:SNPs, haplotype: :rs6441286, rs574808(human) DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) DNA:SNP: :rs62270414(human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695
RGD:25440489 RGD:25440498 RGD:25440500
NCBI chrNW_004955448:10,611,131...10,617,911
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
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Il12rb1
interleukin 12 receptor subunit beta 1
susceptibility
ISO
RNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23910013
RGD:14700865
NCBI chrNW_004955524:3,276,932...3,299,617
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Il1b
interleukin 1 beta
disease_progression
ISO
protein:increased expression:blood serum (human)
RGD
PMID:21275501
RGD:407420272
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il4
interleukin 4
treatment
ISO
RGD
PMID:20442198
RGD:7829828
NCBI chrNW_004955408:4,058,052...4,065,999
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Il6
interleukin 6
disease_progression
ISO
protein:increased expression:blood serum (human)
RGD
PMID:21275501
RGD:407420272
NCBI chrNW_004955410:25,079,835...25,084,390
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577
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Jak2
Janus kinase 2
treatment
ISO
RGD
PMID:24619965
RGD:10403061
NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
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Keap1
kelch like ECH associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290
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Krt18
keratin 18
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:26110613
RGD:18337483
NCBI chrNW_004955458:227,017...230,752
Ensembl chrNW_004955458:226,805...232,728
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Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21681009
NCBI chrNW_004955547:2,584,425...2,598,770
Ensembl chrNW_004955547:2,533,377...2,598,833
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Lbr
lamin B receptor
ISO
RGD
PMID:8550049
RGD:9588625
NCBI chrNW_004955520:401,733...418,279
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Lep
leptin
ISO
protein:decreased expression:serum:
RGD
PMID:16093869
RGD:10411894
NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
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Lepr
leptin receptor
ISO
protein:increased expression:blood serum
RGD
PMID:16093869
RGD:10411894
NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926
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Loxl2
lysyl oxidase like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016
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Map3k14
mitogen-activated protein kinase kinase kinase 14
ISO
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chrNW_004955451:17,907,800...17,954,821
Ensembl chrNW_004955451:17,908,827...17,926,151
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Mapk14
mitogen-activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
ISO
RGD
PMID:17532087
RGD:9685452
NCBI chrNW_004955439:20,956,862...20,957,839
Ensembl chrNW_004955439:20,956,862...20,957,839
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Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
RGD
PMID:19208365
RGD:14694826
NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
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Mmel1
membrane metalloendopeptidase like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639879
NCBI chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053
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Mmp13
matrix metallopeptidase 13
treatment
ISO
RGD
PMID:20056896
RGD:8552731
NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760
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Mmp2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:20056896
RGD:8552731
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:20056896
RGD:8552731
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Msn
moesin
ISO
protein:increased phosphorylation:liver, blood vessel:
RGD
PMID:16492715
RGD:2298879
NCBI chrNW_004955475:5,301,856...5,370,378
Ensembl chrNW_004955475:5,301,910...5,370,691
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:18507686
RGD:2324885
NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression, increased activity:brain (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21903766 PMID:30026087
RGD:5509055
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Nos3
nitric oxide synthase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20132096 PMID:30026087
RGD:329970291
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Nr1h4
nuclear receptor subfamily 1 group H member 4
susceptibility
ISO
mRNA,protein:decreased expression:liver (human)
RGD
PMID:29968724
RGD:14928336
NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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Nr3c1
nuclear receptor subfamily 3 group C member 1
ISO
mRNA:altered expression:leukocyte, mononuclear
RGD
PMID:15635817
RGD:4892607
NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
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Nsa2
NSA2 ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chrNW_004955425:25,896,849...25,903,869
Ensembl chrNW_004955425:25,896,849...25,904,006
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Nup62
nucleoporin 62
severity
ISO
RGD
PMID:12753810
RGD:9831196
NCBI chrNW_004955559:1,012,919...1,033,465
Ensembl chrNW_004955559:1,030,894...1,032,462
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Pde5a
phosphodiesterase 5A
ISO
RGD
PMID:17610866
RGD:2314466
NCBI chrNW_004955428:20,785,497...20,904,717
Ensembl chrNW_004955428:20,785,423...20,904,717
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Ppargc1a
PPARG coactivator 1 alpha
ISO
mRNA, protein:decreased expression:liver
RGD
NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
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Rela
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human)
CTD RGD
PMID:21275501 PMID:30026087
RGD:407420272
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Ren
renin
ISO
protein:increased activity:plasma (rat)
RGD
PMID:22266601
RGD:6892690
NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
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Rhoa
ras homolog family member A
ISO
mRNA, protein:increased expression:liver
RGD
PMID:16492715
RGD:2298879
NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
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Rock2
Rho associated coiled-coil containing protein kinase 2
ISO
mRNA, protein:increased expression:liver
RGD
PMID:16492715
RGD:2298879
NCBI chrNW_004955487:5,856,190...5,972,408
Ensembl chrNW_004955487:5,859,204...5,972,401
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Rps6kb1
ribosomal protein S6 kinase B1
ISO
protein:increased expression, increased phosphorylation:liver
RGD
PMID:15769867
RGD:1642977
NCBI chrNW_004955451:3,181,085...3,225,610
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Sell
selectin L
ISO
protein:increased expression:serum:
RGD
PMID:11280567
RGD:597000690
NCBI chrNW_004955462:7,591,997...7,611,408
Ensembl chrNW_004955462:7,591,366...7,612,846
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Slc4a2
solute carrier family 4 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18188457
NCBI chrNW_004955491:5,498,472...5,513,389
Ensembl chrNW_004955491:5,499,033...5,517,319
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Slc51a
solute carrier family 51 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chrNW_004955420:12,452,562...12,463,369
Ensembl chrNW_004955420:12,453,554...12,463,150
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Slc51b
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chrNW_004955450:10,365,554...10,374,209
Ensembl chrNW_004955450:10,365,554...10,374,209
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Slco1c1
solute carrier organic anion transporter family member 1C1
ISO
protein:decreased expression:liver
RGD
PMID:15770136
RGD:14700810
NCBI chrNW_004955413:16,654,655...16,705,638
Ensembl chrNW_004955413:16,654,618...16,705,720
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Sod2
superoxide dismutase 2
ISO
protein:increased expression:serum
RGD
PMID:1682406
RGD:2317411
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Spib
Spi-B transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chrNW_004955559:705,809...711,407
Ensembl chrNW_004955559:705,809...711,407
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Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158
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Spint2
serine peptidase inhibitor, Kunitz type 2
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chrNW_004955468:1,142,718...1,181,210
Ensembl chrNW_004955468:1,143,118...1,169,632
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Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNPs, haplotypes:multiple DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human) associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) DNA:SNP: intron: (rs7574865) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724
RGD:25671415 RGD:25671416 RGD:25671421
NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
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Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Primary biliary cirrhosis
ClinVar
PMID:25741868 PMID:28492532 PMID:32439973
NCBI chrNW_004955434:3,781,368...3,923,240
Ensembl chrNW_004955434:3,781,113...3,923,391
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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 chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:serum (human) protein:increased expression:blood serum(human) mRNA:increased expression:liver
RGD
PMID:9047083 PMID:17158635 PMID:21275501
RGD:14995307 RGD:38501106 RGD:407420272
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22961000
NCBI chrNW_004955495:1,618,099...1,637,996
Ensembl chrNW_004955495:1,617,999...1,636,068
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Ubd
ubiquitin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chrNW_004955583:29,438...29,873
Ensembl chrNW_004955583:29,438...31,555
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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 chrNW_004955484:7,501,784...7,531,757
Ensembl chrNW_004955484:7,500,613...7,531,198
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:polymorphism: : DNA:SNP: :
RGD
PMID:15683428 PMID:19376604
RGD:14401750 RGD:14402024
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:liver protein:increased expression:plasma:
RGD
PMID:26615570 PMID:26627607
RGD:11528851 RGD:11538286
NCBI chrNW_004955437:9,527,445...9,541,908
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Zc3h12a
zinc finger CCCH-type containing 12A
ISO
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chrNW_004955452:15,306,398...15,314,959
Ensembl chrNW_004955452:15,305,775...15,314,959
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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 chrNW_004955423:23,774,557...23,806,744
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: BYLER DISEASE | 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:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:23437912 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24627769 PMID:25741868 PMID:25847299 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27239116 PMID:27426735 PMID:27493120 PMID:28027573 PMID:28119944 PMID:28425419 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:30210030 PMID:30366773 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:33215027 PMID:33915153 PMID:34016879 PMID:35257483 PMID:35780807 PMID:37471416 More...
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: BYLER DISEASE | ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 PMID:9918928 PMID:11093741 PMID:11815775 PMID:12149765 PMID:12927934 PMID:14976163 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:15975683 PMID:16374853 PMID:17576681 PMID:18379143 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:23060447 PMID:24033266 PMID:24260417 PMID:25315773 PMID:25741868 PMID:26126923 PMID:26382629 PMID:26594346 PMID:26678486 PMID:26756876 PMID:26823041 PMID:26858187 PMID:26879107 PMID:27050426 PMID:28045770 PMID:28492532 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:31555573 PMID:32650689 PMID:32695736 PMID:32942997 PMID:33223529 PMID:33437900 PMID:33666275 PMID:34016879 PMID:34543749 PMID:34679599 PMID:35416773 PMID:35431768 PMID:35626323 PMID:35780807 PMID:35894240 More...
NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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Glb1
galactosidase beta 1
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
PMID:8213816 PMID:16941474 PMID:17309651 PMID:21520340 PMID:23337983 PMID:23430803 PMID:25741868 PMID:26646981 PMID:27619815 PMID:28492532 PMID:33258288 PMID:33737400 More...
NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
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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 chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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Abcb11
ATP binding cassette subfamily B member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21056966
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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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
OMIM ClinVar
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 PMID:9918928 PMID:11093741 PMID:11815775 PMID:12149765 PMID:12927934 PMID:14976163 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:15975683 PMID:16374853 PMID:17576681 PMID:18379143 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:26382629 PMID:26594346 PMID:26678486 PMID:26756876 PMID:26823041 PMID:26858187 PMID:26879107 PMID:27050426 PMID:28045770 PMID:28492532 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:31555573 PMID:32650689 PMID:32695736 PMID:32942997 PMID:33223529 PMID:33437900 PMID:33666275 PMID:34016879 PMID:34543749 PMID:34679599 PMID:35416773 PMID:35431768 PMID:35626323 PMID:35780807 PMID:35894240 More...
NCBI chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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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 chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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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:24248336 PMID:25741868 PMID:27532546 PMID:28027573 PMID:28492532 PMID:32304554 PMID:33525641 More...
NCBI chrNW_004955402:34,892,652...35,247,431
Ensembl chrNW_004955402:34,892,652...35,143,704
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Sema7a
semaphorin 7A (JohnMiltonHagen blood group)
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11
OMIM ClinVar
PMID:34585848
NCBI chrNW_004955450:3,401,732...3,424,547
Ensembl chrNW_004955450:3,401,777...3,423,363
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Vps33b
VPS33B late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: CHOLESTASIS, ISOLATED LOW-GGT | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12
OMIM ClinVar
PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17576681 PMID:17994566 PMID:18853461 PMID:22753090 PMID:25741868 PMID:26505894 PMID:28492532 PMID:29907094 PMID:31343487 PMID:31463585 PMID:31479177 More...
NCBI chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102
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Pskh1
protein serine kinase H1
ISO
ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13
OMIM ClinVar
PMID:25741868 PMID:39132680
NCBI chrNW_004955484:8,784,128...8,813,669
Ensembl chrNW_004955484:8,784,128...8,814,475
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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 DNA:mutation:cds:p.D482G(human) DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
OMIM ClinVar 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:17241866 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:20447715 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:23758865 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:30091450 PMID:30210030 PMID:30934130 PMID:31015375 PMID:31296176 PMID:31319225 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:32917322 PMID:32942997 PMID:33201677 PMID:33215027 PMID:33915153 PMID:34008892 PMID:34016879 PMID:34942279 PMID:35257483 PMID:35780807 PMID:35894240 More...
RGD:14402418 RGD:14688048
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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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 chrNW_004955402:41,994,993...42,113,380
Ensembl chrNW_004955402:41,996,001...42,113,895
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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 chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4
ClinVar
PMID:9806540 PMID:12370274 PMID:14672610 PMID:15791618 PMID:17855769 PMID:18395098 PMID:19101985 PMID:25741868 PMID:25847299 PMID:26019043 PMID:26678486 PMID:28492532 More...
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4
OMIM ClinVar
PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:26467025 PMID:28039895 PMID:28492532 PMID:28924228 PMID:29238877 PMID:30311386 PMID:32089630 PMID:32439973 More...
NCBI chrNW_004955434:3,781,368...3,923,240
Ensembl chrNW_004955434:3,781,113...3,923,391
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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 chrNW_004955428:20,957,807...21,023,380
Ensembl chrNW_004955428:20,957,807...21,023,380
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Nr1h4
nuclear receptor subfamily 1 group H member 4
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition
OMIM ClinVar
PMID:11030617 PMID:17519356 PMID:17681172 PMID:21633855 PMID:24806754 PMID:25741868 PMID:26888176 PMID:28492532 PMID:31201556 More...
NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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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 PMID:32247663
NCBI chrNW_004955420:12,452,562...12,463,369
Ensembl chrNW_004955420:12,453,554...12,463,150
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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 | ClinVar Annotator: match by term: USP53-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30250217 PMID:32124521 PMID:32759993 PMID:33075013 PMID:34608165 More...
NCBI chrNW_004955428:20,957,807...21,023,380
Ensembl chrNW_004955428:20,957,807...21,023,380
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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 chrNW_004955419:13,463,861...13,470,703
Ensembl chrNW_004955419:13,464,230...13,471,763
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Zfyve19
zinc finger FYVE-type containing 19
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9
ClinVar OMIM
PMID:25741868 PMID:32737136 PMID:33853651
NCBI chrNW_004955416:7,672,499...7,679,851
Ensembl chrNW_004955416:7,672,592...7,679,632
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome
OMIM ClinVar
PMID:18382993 PMID:20522425 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30448303 PMID:32827848 PMID:34567078 PMID:36307859 More...
NCBI chrNW_004955520:401,733...418,279
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all