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 .
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Abcb11
ATP binding cassette subfamily B member 11
treatment susceptibility
IDA IEP ISO
mRNA:altered expression:liver (rat) protein:decreased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11179459 PMID:22461449 PMID:24713091 PMID:12702498 PMID:27090119 PMID:27593105 PMID:29087027 More...
RGD:1598571 , RGD:15090804 , RGD:14402414 , RGD:14402412
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IEP
RGD
PMID:11680581
RGD:1598589
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Abcb4
ATP binding cassette subfamily B member 4
IEP ISO ISS
DNA:mutations: :
MouseDO RGD
PMID:11680581 PMID:26324191
RGD:1598589 , RGD:11565494
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcc2
ATP binding cassette subfamily C member 2
treatment disease_progression
IAGP IEP ISO IMP
mRNA:altered expression:liver (rat) CTD Direct Evidence: marker/mechanism protein:decreased expression:intestine: mRNA,protein:decreased expression:intestine:
CTD RGD
PMID:10869290 PMID:17681005 PMID:22521610 PMID:12702498 PMID:27090119 PMID:17009103 PMID:15057744 PMID:15057744 PMID:16037978 More...
RGD:1598571 , RGD:15090804 , RGD:11081011 , RGD:11081007 , RGD:11081007 , RGD:1598614
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc3
ATP binding cassette subfamily C member 3
IEP ISO
protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461449 PMID:18096675 PMID:23486593
RGD:2301060 , RGD:11535162
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abcc4
ATP binding cassette subfamily C member 4
treatment
IEP
protein:altered expression:kidney, liver
RGD
PMID:15030973 PMID:30223280
RGD:2301085 , RGD:15045612
NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
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Abcg5
ATP binding cassette subfamily G member 5
IEP
RGD
PMID:16764892
RGD:1598662
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
IEP
RGD
PMID:16764892
RGD:1598662
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Ace
angiotensin I converting enzyme
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:30458228
RGD:25671450
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
IEP
mRNA, protein:increased expression, increased activity:liver, plasma (rat)
RGD
PMID:19652891
RGD:2315953
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:19806079
RGD:5129088
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Alb
albumin
ISO
RGD
PMID:6431134
RGD:11035297
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Aldh1b1
aldehyde dehydrogenase 1 family, member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
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Aldh1l1
aldehyde dehydrogenase 1 family, member L1
treatment
IEP
RGD
PMID:30223280
RGD:15045612
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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Aldh8a1
aldehyde dehydrogenase 8 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 1:16,183,940...16,203,385
Ensembl chr 1:16,183,940...16,203,385
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Apoc3
apolipoprotein C3
IEP
RGD
PMID:17201892
RGD:10054045
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
ISO
associated with Pancreatic Neoplasms;protein:increased expression:plasma
RGD
PMID:19055369
RGD:2317548
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arg1
arginase 1
IEP
protein:altered activity:liver (rat)
RGD
PMID:15916970
RGD:4143230
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Bcat1
branched chain amino acid transaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597
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Bex4
brain expressed, X-linked 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr X:99,131,985...99,133,417
Ensembl chr X:99,131,942...99,133,531
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Blvra
biliverdin reductase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18706437
NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033
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Bmal1
basic helix-loop-helix ARNT like 1
IEP
mRNA:increased expression:cholangiocyte
RGD
PMID:21757639
RGD:10043349
NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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Btg3
BTG anti-proliferation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
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C14h4orf19
similar to human chromosome 4 open reading frame 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr14:44,387,386...44,478,344
Ensembl chr14:44,387,393...44,478,041
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Cadps2
calcium dependent secretion activator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr 4:51,780,415...52,309,641
Ensembl chr 4:51,781,053...52,309,829
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Cat
catalase
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27989131 PMID:21339256
RGD:5130873
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl7
C-C motif chemokine ligand 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Cd14
CD14 molecule
IEP
RGD
PMID:22511970
RGD:7183752
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd44
CD44 molecule
IEP
protein:decreased expression:jejunum, ileum
RGD
PMID:16804311
RGD:2289372
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cftr
CF transmembrane conductance regulator
IEP
mRNA,Protein:increased expression
RGD
PMID:15605366
RGD:1599598
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Clock
clock circadian regulator
IEP
mRNA:increased expression:cholangiocyte
RGD
PMID:21757639
RGD:10043349
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26884397
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26884397
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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Col1a1
collagen type I alpha 1 chain
treatment
ISO IEP IDA
mRNA:increased expression:liver (mouse) mRNA:increased expression:liver (rat)
RGD
PMID:22094456 PMID:22824087 PMID:21274875
RGD:8552675 , RGD:8552776 , RGD:8552699
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cp
ceruloplasmin
ISO
protein:increased expression:serum
RGD
PMID:29523470
RGD:14401716
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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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 chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27565560
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15795599
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461449
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
disease_progression
IEP
RGD
PMID:29204052
RGD:13782189
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
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Cyp3a23-3a1
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1
disease_progression
IEP
RGD
PMID:29204052
RGD:13782189
NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030 Ensembl chr12:9,254,475...9,285,030
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9797378 PMID:22461449 PMID:29655695
RGD:15090803
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9802883
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Cyp8b1
cytochrome P450 family 8 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461449
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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Dgat2
diacylglycerol O-acyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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Dnajb9
DnaJ heat shock protein family (Hsp40) member B9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr 6:61,270,385...61,276,795
Ensembl chr 6:61,269,913...61,275,063
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Dnajc12
DnaJ heat shock protein family (Hsp40) member C12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Ehhadh
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Cholestasis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188
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Eng
endoglin
IEP
protein:increased expression:liver (rat)
RGD
PMID:21146604
RGD:7257529
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Erlec1
endoplasmic reticulum lectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr14:104,655,745...104,693,508
Ensembl chr14:104,655,673...104,693,480
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F2rl3
F2R like thrombin or trypsin receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20974703
NCBI chr16:17,117,441...17,119,434
Ensembl chr16:17,117,441...17,119,472
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Fga
fibrinogen alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20974703
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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G6pd
glucose-6-phosphate dehydrogenase
IEP
RGD
PMID:18802767
RGD:2307352
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Ghr
growth hormone receptor
ISO
mRNA,protein:decreased expression:liver, skeletal muscle:
RGD
PMID:15604202
RGD:11567216
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Gstm1
glutathione S-transferase mu 1
treatment
IDA
RGD
PMID:25932098
RGD:14701043
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
treatment
IEP
RGD
PMID:23960717
RGD:10401941
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gtpbp2
GTP binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
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Hacl1
2-hydroxyacyl-CoA lyase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
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Hao2
hydroxyacid oxidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
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Hjv
hemojuvelin BMP co-receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Hoga1
4-hydroxy-2-oxoglutarate aldolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 1:240,856,991...240,884,243
Ensembl chr 1:240,857,126...240,884,568
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Hp
haptoglobin
IEP
mRNA:increased expression:liver
RGD
PMID:12940443
RGD:1626374
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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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 chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Id1
inhibitor of DNA binding 1
IEP
protein:increased expression:liver, nucleus (rat)
RGD
PMID:16628634
RGD:9686088
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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Id4
inhibitor of DNA binding 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470
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Igf1
insulin-like growth factor 1
IEP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:12826230 PMID:18607346
RGD:10046052
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il1a
interleukin 1 alpha
IEP
protein:increased expression:liver
RGD
PMID:19535096
RGD:2311076
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il2
interleukin 2
treatment
ISO
RGD
PMID:29698570
RGD:14928214
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
IEP
RGD
PMID:20031157
RGD:2317270
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461449
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Invs
inversin
ISO
RGD
PMID:10421642
RGD:155791685
NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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Kank1
KN motif and ankyrin repeat domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Kmt2b
lysine methyltransferase 2B
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:21330447
RGD:9588602
NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
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Ly96
lymphocyte antigen 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
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Maob
monoamine oxidase B
IEP
protein:altered activity:hypothalamus (rat)
RGD
PMID:18802767
RGD:2307352
NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
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Mapk13
mitogen activated protein kinase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222
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Mapk14
mitogen activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Mboat1
membrane bound O-acyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr17:34,331,413...34,445,088
Ensembl chr17:34,331,422...34,445,088
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Mir130b
microRNA 130b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30125006
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir185
microRNA 185
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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Mir190
microRNA 190
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 8:67,850,987...67,851,071
Ensembl chr 8:67,850,987...67,851,071
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Mir27b
microRNA 27b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr17:1,813,427...1,813,523
Ensembl chr17:1,813,426...1,813,529
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Mir337
microRNA 337
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
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Mir361
microRNA 361
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr X:78,246,206...78,246,275
Ensembl chr X:78,246,206...78,246,275
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Mir377
microRNA 377
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,755,051...128,755,122
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Mir411
microRNA 411
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,723,189...128,723,264
Ensembl chr 6:128,723,184...128,723,279
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Mir875
microRNA 875
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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Mir99a
microRNA 99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
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Mirlet7b
microRNA let-7b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270
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Mirlet7i
microRNA let-7i
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 7:58,642,485...58,642,569
Ensembl chr 7:58,642,480...58,642,571
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Mmp2
matrix metallopeptidase 2
treatment
IEP
RGD
PMID:21274875
RGD:8552699
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20977460
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfxl1
nuclear transcription factor, X-box binding-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr14:35,626,086...35,667,505
Ensembl chr14:35,626,066...35,667,498
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Niban1
niban apoptosis regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr13:63,674,240...63,827,748
Ensembl chr13:63,674,171...63,827,729
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12612912 PMID:20626112
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IEP
protein:decreased activity:liver (rat)
RGD
PMID:11352814
RGD:7775033
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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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 chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Npl
N-acetylneuraminate pyruvate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461449 PMID:28337145
RGD:13439750
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
ISO
RGD
PMID:24497272
RGD:10448995
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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Nr1h2
nuclear receptor subfamily 1, group H, member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17256725
NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17256725
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment severity
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) mRNA:increased expression:ileum (rat) mRNA, protein:altered expression:liver (rat) mutant FXR-/- mouse
CTD RGD
PMID:22461449 PMID:23178280 PMID:27090119 PMID:30061734 PMID:30223280 PMID:30077711 PMID:29235094 PMID:12949728 More...
RGD:15090804 , RGD:15092071 , RGD:15045612 , RGD:15045597 , RGD:15042872 , RGD:14701031
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
disease_progression
IEP
RGD
PMID:29204052
RGD:13782189
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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Nr1i3
nuclear receptor subfamily 1, group I, member 3
disease_progression
IEP
RGD
PMID:29204052
RGD:13782189
NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
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Otc
ornithine transcarbamylase
IEP
protein:decreased activity:liver (rat)
RGD
PMID:15916970
RGD:4143230
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Pan2
poly(A) specific ribonuclease subunit PAN2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744
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Pdgfb
platelet derived growth factor subunit B
IEP
mRNA,protein:increased expression:cholangiocyte, bible duct:
RGD
PMID:10424289
RGD:10449495
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdyn
prodynorphin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16919318
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3421781
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
treatment
IEP
mRNA:altered expression:liver (rat)
RGD
PMID:27090119
RGD:15090804
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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Pygm
glycogen phosphorylase, muscle associated
IDA
mRNA:decreased expression:liver
RGD
PMID:11804660
RGD:1599990
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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Rdx
radixin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17681005
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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Reep5
receptor accessory protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr18:25,945,375...25,983,271
Ensembl chr18:25,945,381...25,976,509
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rflnb
refilin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr10:60,893,693...60,899,970
Ensembl chr10:60,893,713...60,899,976
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4117022
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpina5
serpin family A member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc10a1
solute carrier family 10 member 1
treatment
IEP
mRNA:altered expression:liver (rat)
RGD
PMID:29655695 PMID:27090119
RGD:15090803 , RGD:15090804
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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Slc10a7
solute carrier family 10, member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
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Slc16a2
solute carrier family 16 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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Slc23a1
solute carrier family 23 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18706437
NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
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Slc23a2
solute carrier family 23 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18706437
NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
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Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Slc51a
solute carrier family 51 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920 PMID:22461449
NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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Slc51b
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920 PMID:22461449
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
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Slco1a4
solute carrier organic anion transporter family, member 1a4
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat)
CTD RGD
PMID:22461449 PMID:27090119
RGD:15090804
NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573
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Slco1b2
solute carrier organic anion transporter family member 1B2
IEP
mRNA, protein:increased expression:hepatocyte
RGD
PMID:17916651
RGD:2303109
NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
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Snai1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
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Sorl1
sortilin related receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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Sort1
sortilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28453831
NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354
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Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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Spint2
serine peptidase inhibitor, Kunitz type, 2
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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Srp72
signal recognition particle 72
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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Sult2b1
sulfotransferase family 2B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27052460
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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Timp1
TIMP metallopeptidase inhibitor 1
IEP
RGD
PMID:8707259
RGD:2290364
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tjp1
tight junction protein 1
IEP
protein:increased expression:liver
RGD
PMID:18197414
RGD:2325141
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tmed7
transmembrane p24 trafficking protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr18:39,318,564...39,325,640
Ensembl chr18:39,297,351...39,325,640
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Tmem117
transmembrane protein 117
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr 7:125,757,591...126,219,692
Ensembl chr 7:125,757,591...126,219,690
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Uba5
ubiquitin-like modifier activating enzyme 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26881866
NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
treatment
ISO
RGD
PMID:29867509
RGD:14694823
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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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 chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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Utp4
UTP4 small subunit processome component
ISO
North American Indian childhood cirrhosis, OMIM:604901, R565W
RGD
PMID:12417987
RGD:1600653
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224055
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vil1
villin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Vps33b
VPS33B, late endosome and lysosome associated
ISO
ARC syndrome, OMIM:208085
RGD
PMID:15052268
RGD:1599749
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Wipi1
WD repeat domain, phosphoinositide interacting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27989131
NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846
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Xdh
xanthine dehydrogenase
IEP
protein:alternative form:liver
RGD
PMID:10898233
RGD:13209135
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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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 chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
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Jag1
jagged canonical Notch ligand 1
ISO ISS
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC OMIM:118450 | OMIM:610205 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 CTD Direct Evidence: marker/mechanism DNA:insertion:exon:c.962_963insA (human)
ClinVar MouseDO CTD RGD
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 PMID:10213047 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11139247 PMID:11152664 PMID:11157803 PMID:11180599 PMID:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12297837 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18660822 PMID:19058200 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:20586101 PMID:21532573 PMID:21752016 PMID:22040217 PMID:22382802 PMID:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25326637 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:30651579 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34399559 PMID:34746741 PMID:36973604 PMID:37600608 PMID:11745040 PMID:16875832 PMID:21714972 More...
RGD:1580651 , RGD:6482237 , RGD:6482232
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:31749841 PMID:16773578 More...
RGD:1580762
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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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 chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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Hao1
hydroxyacid oxidase 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 1 | 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: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:36973604 PMID:37600608 More...
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Lamp5
lysosomal-associated membrane protein family, member 5
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952
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Mkks
MKKS centrosomal shuttling protein
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Pak5
p21 (RAC1) activated kinase 5
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930
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Plcb1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Plcb4
phospholipase C, beta 4
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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Slx4ip
SLX4 interacting protein
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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Tmx4
thioredoxin-related transmembrane protein 4
ISO
ClinVar Annotator: match by term: Alagille syndrome 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 chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Alagille syndrome 2
OMIM ClinVar
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:30143558 PMID:31749841 PMID:32164334 PMID:32368696 More...
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Vipas39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome
CTD ClinVar MouseDO
PMID:20190753 PMID:25741868
NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Vps33b
VPS33B, late endosome and lysosome associated
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome
CTD MouseDO ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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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 chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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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:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:29907094 PMID:31343487 PMID:31479177 More...
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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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
OMIM ClinVar
PMID:20190753 PMID:25741868 PMID:28492532 PMID:31479177
NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: Summerskill syndrome DNA:missense mutation:cds:p.I661T (human)
OMIM ClinVar RGD
PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID: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 PMID:9918928 More...
RGD:14401576
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2
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:28027573 PMID:28119944 PMID:28425419 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: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:37471416 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21356120
RGD:5686894
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Cd14
CD14 molecule
disease_progression
ISO
mRNA, protein:increased expression:liver, plasma:
RGD
PMID:21172039
RGD:7184431
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Dlk1
delta like non-canonical Notch ligand 1
ISO
RGD
PMID:14743499
RGD:1625622
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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Ggt1
gamma-glutamyltransferase 1
disease_progression
ISO
RGD
PMID:29056230
RGD:14701039
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gli2
GLI family zinc finger 2
disease_progression
ISO
RGD
PMID:25746691
RGD:12802349
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Hamp
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16627878
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Icam1
intercellular adhesion molecule 1
susceptibility
ISO
DNA:missense mutation:cds:p.G241R (human)
RGD
PMID:18401716
RGD:14402043
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) protein:increased expression:serum:
RGD
PMID:30059753 PMID:10726686
RGD:14695528 , RGD:14695529
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Mir145
microRNA 145
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:28902846
RGD:15039396
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir155
microRNA 155
ISO
miRNA:increased expression:liver
RGD
PMID:28355202 PMID:27817193
RGD:24922206 , RGD:25671379
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Pten
phosphatase and tensin homolog
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:25487473
RGD:12832754
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Shh
sonic hedgehog signaling molecule
disease_progression
ISO
RGD
PMID:25746691
RGD:12802349
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Sox17
SRY-box transcription factor 17
ISS
MouseDO
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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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 chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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Spint2
serine peptidase inhibitor, Kunitz type, 2
ISO
mRNA,protein:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15845635
RGD:1581370
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:30686515
RGD:14985228
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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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 chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Ofd1
Ofd1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: COACH syndrome
ClinVar
PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Tmem67
transmembrane protein 67
ISO
DNA:missense mutations: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19058225 PMID:19574260
RGD:11535944 , RGD:11535946
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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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:32461654 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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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 More...
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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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:12368986 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:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27491411 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:34675960 PMID:36617405 More...
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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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:28125082 PMID:28492532 PMID:32488064 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: COACH syndrome 3
OMIM ClinVar
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18565097 PMID:19430481 PMID:19574260 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 More...
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect
ClinVar
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 PMID:28492532 PMID:34627351 More...
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 PMID:19175828 PMID:20522910 PMID:21185810 PMID:23679950 PMID:25304492 PMID:25741868 PMID:28492532 PMID:30809085 PMID:31450232 PMID:37314652 More...
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21541746 PMID:21567895 PMID:21623769 PMID:22384504 PMID:23812641 PMID:24117163 PMID:24641183 PMID:24927729 PMID:25741868 PMID:26467025 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29228183 PMID:29980238 More...
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Amacr
alpha-methylacyl-CoA racemase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
OMIM CTD ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25741868 PMID:28492532 PMID:30369941 More...
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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Slc45a2
solute carrier family 45, member 2
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Abcd3
ATP binding cassette subfamily D member 3
ISO ISS
OMIM:616278 ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5
OMIM MouseDO ClinVar
PMID:25168382 PMID:25741868 PMID:28492532
NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020
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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 chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
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Abca1
ATP binding cassette subfamily A member 1
IEP
mRNA,protein:increased expression:liver, basolateral plasma membrane (rat)
RGD
PMID:28660384
RGD:21203516
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcc4
ATP binding cassette subfamily C member 4
treatment
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:29360226
RGD:14995480
NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:31932644
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:31932644
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Crh
corticotropin releasing hormone
IEP
protein:decreased expression:hypothalamus (rat)
RGD
PMID:8387536
RGD:5490980
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Cygb
cytoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
treatment
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:29360226
RGD:14995480
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
treatment
IEP
mRNA:decreased expression:liver (rat) mRNA:decreased expression:liver, nucleus (rat)
RGD
PMID:29360226 PMID:28660384
RGD:14995480 , RGD:21203516
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Cyp8b1
cytochrome P450 family 8 subfamily B member 1
treatment
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:29360226
RGD:14995480
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Gjb1
gap junction protein, beta 1
IEP
mRNA,protein:decreased expression:liver:
RGD
PMID:7762611
RGD:7349397
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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Gjb2
gap junction protein, beta 2
IEP
RGD
PMID:7762611
RGD:7349397
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Hamp
hepcidin antimicrobial peptide
IEP
mRNA:decreased expression:liver
RGD
PMID:19652645
RGD:11041639
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmgcs2
3-hydroxy-3-methylglutaryl-CoA synthase 2
IEP
mRNA, protein:decreased expression:liver, mitochondrion (rat)
RGD
PMID:12399220
RGD:2326121
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
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Hnf1a
HNF1 homeobox A
IEP
mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat)
RGD
PMID:15723437
RGD:14700989
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Keap1
Kelch-like ECH-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Lgals1
galectin 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:18225978
RGD:2316551
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk14
mitogen activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mapk9
mitogen-activated protein kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:31900718
RGD:21201303
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment disease_progression
IDA IEP ISO
mRNA:increased expression:liver (rat) protein:increased expression:liver (rat) human gene in mouse model
RGD
PMID:14623915 PMID:29360226 PMID:29138817 PMID:22057115
RGD:1625205 , RGD:14995480 , RGD:15042871 , RGD:14928333
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Oprm1
opioid receptor, mu 1
IEP
mRNA:decreased expression:hypothalamus, hippocampus
RGD
PMID:25290008
RGD:401842371
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdgfrb
platelet derived growth factor receptor beta
treatment
IMP
RGD
PMID:18466260
RGD:10449503
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Ptn
pleiotrophin
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:18225978
RGD:2316551
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:30026087
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Setd7
SET domain containing 7, histone lysine methyltransferase
treatment
IMP
RGD
PMID:24097032
RGD:9491846
NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468
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Slc22a1
solute carrier family 22 member 1
IEP
protein:decreased expression:kidney
RGD
PMID:20814153
RGD:7243879
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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Slc22a2
solute carrier family 22 member 2
IEP
protein:increased expression:kidney
RGD
PMID:20814153
RGD:7243879
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951 PMID:30026087 PMID:31932644
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28789951
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO ISS
ClinVar Annotator: match by term: GRACILE syndrome OMIM:603358 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
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:20518024 PMID:21274865 PMID:22277166 PMID:22310368 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:33511646 PMID:34662929 More...
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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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 chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Ank1
ankyrin 1
severity
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant DNA:deletion mutation:exon: DNA:deletion:cds: DNA:mutation: : DNA:transversion mutation:splice site:1674G>C(mouse) DNA:transition mutation:intron: DNA:mutation:exon:p.E924X(mouse)
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:8640229 PMID:14671619 PMID:9054656 PMID:23390527 PMID:19179303 PMID:23934996 PMID:21193012 More...
RGD:1578350 , RGD:11251681 , RGD:11251680 , RGD:11041609 , RGD:11251676 , RGD:11251675 , RGD:11251674
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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Dhodh
dihydroorotate dehydrogenase (quinone)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar RGD
PMID:28492532 PMID:1558976
RGD:1598910
NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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Gpi
glucose-6-phosphate isomerase
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar
PMID:25741868
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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Klf1
KLF transcription factor 1
ISO ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human)
MouseDO RGD
PMID:20691777
RGD:10769342
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Or10z1
olfactory receptor family 10 subfamily Z member 1
ISO
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
PMID:25741868
NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
DNA:duplication:cds: (human) ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism mRNA:splicing error:intron:IVS8+1G>T (human) DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human) DNA:missense mutation:cds:p.G771D (human)
ClinVar CTD RGD
PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 PMID:9326249 PMID:9207478 PMID:8547122 More...
RGD:1599007 , RGD:10450510 , RGD:10450506 , RGD:10450491
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Spta1
spectrin, alpha, erythrocytic 1
ISO
DNA:polymorphisms:introns,exon: 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 DNA:deletion:cds:
ClinVar RGD
PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:30976395 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:15384986 PMID:11920196 More...
RGD:11059521 , RGD:11059522
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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Sptb
spectrin, beta, erythrocytic
ISO
mRNA:decreased expression:erythrocyte: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 PMID:19538529 More...
RGD:11059526
NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
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Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Add2
adducin 2
ISS
OMIM:182900
MouseDO
NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
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Ank1
ankyrin 1
ISO ISS
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:182900 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
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:24033266 PMID:25741868 PMID:27292444 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:32436265 PMID:32518793 PMID:32641076 PMID:32702754 PMID:33014018 PMID:33074480 PMID:33116287 PMID:33620149 PMID:33868383 PMID:34335240 PMID:34953813 PMID:36071563 PMID:36598564 PMID:36816036 PMID:38592584 More...
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
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Epb42
erythrocyte membrane protein band 4.2
ISS
OMIM:182900
MouseDO
NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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Spta1
spectrin, alpha, erythrocytic 1
ISS
OMIM:182900
MouseDO
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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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 chr 6:95,265,756...95,308,952
Ensembl chr 6:95,266,058...95,310,359
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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:31807509 PMID:32436265 PMID:32641076 PMID:33074480 PMID:36135330 PMID:38592584 More...
NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
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Or10z1
olfactory receptor family 10 subfamily Z member 1
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 3
ClinVar
PMID:25741868
NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
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Spta1
spectrin, alpha, erythrocytic 1
ISO ISS
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive OMIM:270970 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:9192783 PMID:15071791 PMID:15384986 PMID:18815189 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27292444 PMID:27667160 PMID:27863252 PMID:28492532 PMID:29105823 PMID:29396846 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31602632 PMID:31723846 PMID:31854503 PMID:32266426 PMID:32436265 PMID:32581362 PMID:32888494 PMID:33074880 PMID:33556202 More...
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 OMIM:612653
CTD ClinVar MouseDO
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:1722314 PMID:1737855 PMID:2146504 PMID:2196932 PMID:2527366 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8011524 PMID:8206915 PMID:8282779 PMID:8343110 PMID:8434259 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8640229 PMID:8704215 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:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:16107207 PMID:16227998 PMID:16420521 PMID:17215882 PMID:18266205 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:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29572776 PMID:29627839 PMID:29725771 PMID:30192042 PMID:30230413 PMID:31122244 PMID:31126250 PMID:31147440 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32266426 PMID:32641076 PMID:32926342 PMID:33532864 PMID:34093240 PMID:34746046 PMID:35738466 PMID:35845192 PMID:36203343 PMID:36231035 PMID:37353797 More...
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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 chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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Abcb11
ATP binding cassette subfamily B member 11
susceptibility
ISO
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16290310 PMID:16641580 PMID:16871584 PMID:17855769 PMID:18049162 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: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:33915153 PMID:34016879 PMID:35257483 PMID:9806540 PMID:22619174 More...
RGD:1598583 , RGD:14688049
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
treatment
ISO ISS
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human) OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878
ClinVar MouseDO RGD
PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 PMID:17726488 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:21119540 PMID:22331132 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24806754 PMID:25741868 PMID:25755532 PMID:26126923 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:28039895 PMID:28492532 PMID:28587926 PMID:28776642 PMID:28924228 PMID:29761167 PMID:30449124 PMID:31130284 PMID:31181191 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:35626323 PMID:35894240 PMID:35905201 PMID:8106172 PMID:30935993 PMID:18781607 More...
RGD:1300325 , RGD:14695045 , RGD:14695044
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Ap1s1
adaptor related protein complex 1 subunit sigma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23423674
NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
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Atp8b1
ATPase phospholipid transporting 8B1
susceptibility
ISO
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 PMID:15239083 PMID:18379143 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 PMID:9500542 More...
RGD:1599397
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
mRNA:increased expression:liver
RGD
PMID:18364083
RGD:5135233
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:29404441
RGD:14700873
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18364083 PMID:22094456
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
IEP
protein:decreased activity,altered location:liver:
RGD
PMID:11383876
RGD:9685454
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
CBAS1, OMIM:607765
RGD
PMID:12679481
RGD:1599971
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Maf
MAF bZIP transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20146260
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Mafg
MAF bZIP transcription factor G
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20146260
NCBI chr10:105,903,307...105,911,808
Ensembl chr10:105,903,237...105,912,026
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Mir27a
microRNA 27a
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:25226451
RGD:14695552
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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Nr0b2
nuclear receptor subfamily 0, group B, member 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:18578998
RGD:2311605
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
IDA
RGD
PMID:15644430
RGD:1625202
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Slc22a1
solute carrier family 22 member 1
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:19002567
RGD:7243885
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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Slc22a2
solute carrier family 22 member 2
IEP
mRNA, protein:decreased expression:kidney
RGD
PMID:19002567
RGD:7243885
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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Tjp2
tight junction protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614073
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Hdac3
histone deacetylase 3
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Il18
interleukin 18
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23627780
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28851649
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1
OMIM ClinVar
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:32650689 PMID:32695736 PMID:33223529 PMID:35894240 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:29992621 PMID:30091450 PMID:30934130 PMID:31538484 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 PMID:34016879 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3
OMIM ClinVar
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12624161 PMID:12746424 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33390354 PMID:33742171 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Vps50
VPS50 subunit of EARP/GARPII complex
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
OMIM ClinVar
PMID:25741868 PMID:34037727
NCBI chr 4:31,484,424...31,585,617
Ensembl chr 4:31,484,463...31,585,617
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Utp4
UTP4 small subunit processome component
ISO
ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis
ClinVar
PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 PMID:20385600 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 PMID:28492532 More...
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22022477
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Adm
adrenomedullin
IEP
protein:increased expression:plasma:
RGD
PMID:20132852
RGD:7364952
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Alb
albumin
IEP
RGD
PMID:9161836
RGD:11036102
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:15573249
RGD:8549649
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd14
CD14 molecule
IEP
mRNA:increased expression:ileum, liver, lung, spleen
RGD
PMID:25093541
RGD:9685190
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cfh
complement factor H
IEP
protein:decreased expression:plasma:
RGD
PMID:20132852
RGD:7364952
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Gpt
glutamic--pyruvic transaminase
IEP
RGD
PMID:9161836
RGD:11036102
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Hmbs
hydroxymethylbilane synthase
EXP
Protein:increased activity:liver (rat)
RGD
PMID:3963818
RGD:4144803
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hmgb1
high mobility group box 1
IEP
protein:increased expression:liver, plasma
RGD
PMID:21737101
RGD:10402168
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Irf5
interferon regulatory factor 5
IEP
mRNA,protein:increased expression:liver,nucleus:
RGD
PMID:21737101
RGD:10402168
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Lbp
lipopolysaccharide binding protein
IEP
mRNA:increased expression:liver
RGD
PMID:25093541
RGD:9685190
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
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Pcna
proliferating cell nuclear antigen
treatment
IEP
RGD
PMID:12917765
RGD:10448973
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Tlr2
toll-like receptor 2
treatment
ISO
RGD
PMID:29366780
RGD:15090858
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Ucp2
uncoupling protein 2
IEP
RGD
PMID:19632092
RGD:7204429
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Unc45a
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086
NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
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Abca1
ATP binding cassette subfamily A member 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:28660384
RGD:21203516
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcb4
ATP binding cassette subfamily B member 4
treatment disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD RGD
PMID:20040336 PMID:30682444 PMID:21209952 PMID:18671305
RGD:153297773 , RGD:14694982
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcc2
ATP binding cassette subfamily C member 2
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver
CTD RGD
PMID:15542527 PMID:15770136
RGD:14700810
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15542527
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
IEP
mRNA:increased expression:liver
RGD
PMID:19389807
RGD:2325226
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:17532087
RGD:9685452
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
G
Agt
angiotensinogen
IEP
protein:increased expression:plasma
RGD
PMID:17532087
RGD:9685452
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Aqp4
aquaporin 4
IEP
RGD
PMID:20451280
RGD:5148030
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
G
Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver:
CTD RGD
PMID:12126966 PMID:15770052
RGD:14995336
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccn2
cellular communication network factor 2
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:19371232
RGD:2314517
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Cd14
CD14 molecule
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:21275501
RGD:407420272
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
G
Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
G
Cd68
Cd68 molecule
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:21275501
RGD:407420272
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Cd80
Cd80 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
G
Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:18456456
RGD:8662434
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Cenpb
centromere protein B
ISO
RGD
PMID:8911074
RGD:27226708
NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
G
Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
G
Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Cpeb1
cytoplasmic polyadenylation element binding protein 1
IEP
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
G
Cpeb4
cytoplasmic polyadenylation element binding protein 4
ISO
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility disease_progression no_association
ISO
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human) DNA:SNP:CDS:60G>A(rs3087243)(human) DNA:SNPs: :rs231775, rs3087243, rs231725 (human) DNA:SNP:CDS:49A>G(human)
RGD
PMID:10782900 PMID:16584111 PMID:21594562 PMID:17482523
RGD:2301998 , RGD:14398744 , RGD:14398743 , RGD:14398725
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr5
C-X-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
G
Cygb
cytoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
G
Dag1
dystroglycan 1
IEP
mRNA:increased expression:liver
RGD
PMID:12177244
RGD:2314895
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Dennd1b
DENN domain containing 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601
G
Dnase1
deoxyribonuclease 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:28263100
RGD:38500241
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
G
Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15651265 PMID:15651265
RGD:9685530
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:lymphocyte:
RGD
PMID:26429926
RGD:14700711
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Foxp3
forkhead box P3
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gch1
GTP cyclohydrolase 1
treatment
IEP
RGD
PMID:20132096
RGD:329970291
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
G
Hamp
hepcidin antimicrobial peptide
treatment
ISO IEP
mRNA:decreased expression:liver
RGD
PMID:19652645 PMID:23704825
RGD:11041639 , RGD:11041732
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hhip
Hedgehog-interacting protein
IEP
mRNA:decreased expression:
RGD
PMID:18375471
RGD:11552599
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22271822
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmox1
heme oxygenase 1
IEP
mRNA, protein:increased expression:liver, lung
RGD
PMID:12114196
RGD:625603
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Icam1
intercellular adhesion molecule 1
treatment
ISO
associated with Graft vs Host Disease;
RGD
PMID:10051478
RGD:11520783
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Igfbp1
insulin-like growth factor binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
G
Il10
interleukin 10
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il12a
interleukin 12A
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype: :rs6441286, rs574808(human) DNA:SNP: :rs62270414(human) DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD RGD
PMID:20639880 PMID:19458352 PMID:23433321 PMID:27175695
RGD:25440500 , RGD:25440498 , RGD:25440489
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
G
Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il12rb1
interleukin 12 receptor subunit beta 1
susceptibility
IEP
RNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23910013
RGD:14700865
NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
G
Il1b
interleukin 1 beta
disease_progression
ISO
protein:increased expression:blood serum (human)
RGD
PMID:21275501
RGD:407420272
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il4
interleukin 4
treatment
IEP
RGD
PMID:20442198
RGD:7829828
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
disease_progression
ISO
protein:increased expression:blood serum (human)
RGD
PMID:21275501
RGD:407420272
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
G
Jak2
Janus kinase 2
treatment
IMP
RGD
PMID:24619965
RGD:10403061
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Keap1
Kelch-like ECH-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
G
Krt18
keratin 18
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:26110613
RGD:18337483
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
G
Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21681009
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
G
Lbr
lamin B receptor
ISO
RGD
PMID:8550049
RGD:9588625
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
G
Lep
leptin
ISO
protein:decreased expression:serum:
RGD
PMID:16093869
RGD:10411894
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
ISO
protein:increased expression:serum:
RGD
PMID:16093869
RGD:10411894
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
G
Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
G
Map3k14
mitogen-activated protein kinase kinase kinase 14
ISS
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
G
Mapk14
mitogen activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Mas1
MAS1 proto-oncogene, G protein-coupled receptor
IEP
RGD
PMID:17532087
RGD:9685452
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
G
Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
RGD
PMID:19208365
RGD:14694826
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Mir21
microRNA 21
severity
ISO
RGD
PMID:28886078
RGD:21408577
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Mir223
microRNA 223
severity
ISO
RGD
PMID:28886078
RGD:21408577
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Mmel1
membrane metallo-endopeptidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639879
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
G
Mmp13
matrix metallopeptidase 13
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
G
Mmp2
matrix metallopeptidase 2
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp3
matrix metallopeptidase 3
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Mmp9
matrix metallopeptidase 9
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:18507686
RGD:2324885
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
G
Nos2
nitric oxide synthase 2
IEP ISO
protein:increased expression, increased activity:brain (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:21903766
RGD:5509055
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:20132096
RGD:329970291
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
susceptibility
ISO
mRNA,protein:decreased expression:liver (human)
RGD
PMID:29968724
RGD:14928336
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:altered expression:leukocyte, mononuclear
RGD
PMID:15635817
RGD:4892607
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
G
Nsa2
NSA2 ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388
G
Nup62
nucleoporin 62
severity
ISO
RGD
PMID:12753810
RGD:9831196
NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174
G
Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:17610866
RGD:2314466
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:
RGD:6484526
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Rela
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human)
CTD RGD
PMID:30026087 PMID:21275501
RGD:407420272
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Ren
renin
IEP
protein:increased activity:plasma (rat)
RGD
PMID:22266601
RGD:6892690
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
G
Rps6kb1
ribosomal protein S6 kinase B1
IEP
protein:increased expression, increased phosphorylation:liver
RGD
PMID:15769867
RGD:1642977
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:15713222
RGD:14401562
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
Slc4a2
solute carrier family 4 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18188457
NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
G
Slc51a
solute carrier family 51 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
G
Slc51b
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
G
Slco1a1
solute carrier organic anion transporter family, member 1a1
IEP
protein:decreased expression:liver
RGD
PMID:15770136
RGD:14700810
NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873
G
Slco1c1
solute carrier organic anion transporter family, member 1c1
IEP
protein:decreased expression:liver
RGD
PMID:15770136
RGD:14700810
NCBI chr 4:174,466,621...174,513,290
Ensembl chr 4:174,466,631...174,513,289
G
Sod2
superoxide dismutase 2
ISO
protein:increased expression:serum
RGD
PMID:1682406
RGD:2317411
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Spib
Spi-B transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chr 1:95,018,939...95,024,804
Ensembl chr 1:95,018,947...95,024,780
G
Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
G
Spint2
serine peptidase inhibitor, Kunitz type, 2
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
G
Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNPs, haplotypes:multiple CTD Direct Evidence: marker/mechanism associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) DNA:SNP: intron: (rs7574865) (human) DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
CTD RGD
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 PMID:24648611
RGD:25671415 , RGD:25671421 , RGD:25671416 , RGD:25671415
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Primary biliary cirrhosis
ClinVar
PMID:25741868 PMID:28492532 PMID:32439973
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
G
Tlr9
toll-like receptor 9
ISO
protein:increased expression:liver, peripheral blood mononuclear cell (human)
RGD
PMID:23026026
RGD:18337477
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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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:21275501 PMID:17158635
RGD:14995307 , RGD:407420272 , RGD:38501106
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22961000
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Ubd
ubiquitin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Utp4
UTP4 small subunit processome component
ISO
North American Indian childhood cirrhosis, OMIM:604901, R565W
RGD
PMID:12417987
RGD:1600653
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:polymorphism: : DNA:SNP: :
GAD RGD
PMID:15118671 PMID:15683428 PMID:19376604
RGD:1331525 , RGD:14402024 , RGD:14401750
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
IEP ISO
protein:increased expression:liver protein:increased expression:plasma:
RGD
PMID:26627607 PMID:26615570
RGD:11528851 , RGD:11538286
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Zc3h12a
zinc finger CCCH type containing 12A
ISS
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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Il12rb2
interleukin 12 receptor subunit beta 2
ISO
ClinVar Annotator: match by term: IL12RB2-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:96,426,396...96,515,251
Ensembl chr 4:96,426,842...96,515,289
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16290310 PMID:16641580 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID: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: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 chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
PMID:11313316 PMID:12746424 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:21119540 PMID:22331132 PMID:22343912 PMID:22675952 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26900700 PMID:27256251 PMID:28039895 PMID:28220208 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29761167 PMID:30449124 PMID:31000363 PMID:31130284 PMID:31181191 PMID:31538484 PMID:31538486 PMID:31625567 PMID:31728073 PMID:32581362 PMID:32626542 PMID:32793533 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:34961929 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: 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:16374853 PMID:17576681 PMID:18937870 PMID:19260995 PMID:19381753 PMID:19731236 PMID:19918981 PMID:20038848 PMID:20232290 PMID:20414253 PMID:20683201 PMID:20852622 PMID:20981092 PMID:22525741 PMID:22995991 PMID:23060447 PMID:24033266 PMID:24260417 PMID:25315773 PMID:25741868 PMID:26126923 PMID:26382629 PMID:26594346 PMID:26678486 PMID:26756876 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:33223529 PMID:33437900 PMID:33666275 PMID:34016879 PMID:34543749 PMID:35894240 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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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 chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
ClinVar Annotator: match by term: Byler disease
ClinVar
PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Abcb11
ATP binding cassette subfamily B member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21056966
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Byler disease
CTD ClinVar
PMID:12891548 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19584064 PMID:20042859 PMID:20537830 PMID:21056966 PMID:21119540 PMID:22331132 PMID:22343912 PMID:22675952 PMID:23022423 PMID:23533021 PMID:24723470 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26900700 PMID:27256251 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29761167 PMID:31000363 PMID:31538484 PMID:32581362 PMID:32626542 PMID:32793533 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:34961929 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 PMID:9918928 PMID:11093741 PMID:12149765 PMID:14976163 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:16374853 PMID:17576681 PMID:18937870 PMID:19260995 PMID:19381753 PMID:19731236 PMID:19918981 PMID:20038848 PMID:20232290 PMID:20414253 PMID:20683201 PMID:20852622 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:26594346 PMID:26756876 PMID:26879107 PMID:27050426 PMID:28045770 PMID:28492532 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:31555573 PMID:32650689 PMID:32695736 PMID:33223529 PMID:33666275 PMID:34016879 PMID:34543749 PMID:35894240 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
ClinVar Annotator: match by term: Byler disease
ClinVar
PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Myo5b
myosin Vb
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10
OMIM ClinVar
PMID:18724368 PMID:20186687 PMID:25741868 PMID:27532546 PMID:28027573 PMID:28492532 PMID:32304554 PMID:33525641 More...
NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
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Sema7a
semaphorin 7A (John Milton Hagen blood group)
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11
OMIM ClinVar
PMID:34585848
NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
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Vps33b
VPS33B, late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12
OMIM ClinVar
PMID:18853461 PMID:25741868 PMID:31479177
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Pskh1
protein serine kinase H1
ISO
OMIM
NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032
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Abcb11
ATP binding cassette subfamily B member 11
disease_progression
ISO
ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 CTD Direct Evidence: marker/mechanism DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human DNA:mutation:cds:p.D482G(human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 PMID:12717091 PMID:14672610 PMID:14999697 PMID:15077010 PMID:15300568 PMID:15317749 PMID:15791618 PMID:16039748 PMID:16199547 PMID:16290310 PMID:16641580 PMID:16763017 PMID:16871584 PMID:17576681 PMID:17855769 PMID:17947449 PMID:18395098 PMID:18692205 PMID:18798335 PMID:18937870 PMID:19101985 PMID:19571440 PMID:19750581 PMID:19797282 PMID:19845854 PMID:20010382 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:20799350 PMID:21404481 PMID:21490445 PMID:22364601 PMID:22609309 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23684896 PMID:23750872 PMID:24033266 PMID:24115678 PMID:24214725 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24530123 PMID:24627769 PMID:24969679 PMID:24991443 PMID:25716872 PMID:25741868 PMID:25771912 PMID:25847299 PMID:26019043 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27153395 PMID:27239116 PMID:27368585 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28454995 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29412511 PMID:30210030 PMID:31015375 PMID:31319225 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:32942997 PMID:33915153 PMID:34008892 PMID:34016879 PMID:35257483 PMID:35780807 PMID:36142670 PMID:23758865 PMID:20447715 More...
RGD:14688048 , RGD:14402418
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
ClinVar
PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:25741868 PMID:28492532 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: MDR3 deficiency
ClinVar
PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 PMID:27114171 PMID:28492532 PMID:28733223 PMID:33915153 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 PMID:12624161 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17241866 PMID:17576681 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:21514256 PMID:22184139 PMID:22331132 PMID:22343912 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25593501 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28220208 PMID:28355206 PMID:28492532 PMID:28552422 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:30036524 PMID:30366773 PMID:31000363 PMID:31130284 PMID:31319225 PMID:31538484 PMID:31538486 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32793533 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33215027 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:33763395 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4
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 chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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Usp53
ubiquitin specific peptidase 53
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like)
ClinVar
PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993
NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition
OMIM ClinVar
PMID:11030617 PMID:17681172 PMID:21633855 PMID:24806754 PMID:25741868 PMID:26888176 PMID:28492532 PMID:31201556 More...
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Slc51a
solute carrier family 51 member A
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6
OMIM ClinVar
PMID:25741868 PMID:31863603
NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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Usp53
ubiquitin specific peptidase 53
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30250217 PMID:32124521 PMID:32759993 PMID:33075013 PMID:34608165 More...
NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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Kif12
kinesin family member 12
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8
OMIM ClinVar
PMID:25741868 PMID:30250217 PMID:30976738 PMID:34555379
NCBI chr 5:76,596,204...76,603,261
Ensembl chr 5:76,596,208...76,602,843
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Zfyve19
zinc finger FYVE-type containing 19
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9
OMIM ClinVar
PMID:25741868 PMID:32737136 PMID:33853651
NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969
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Lbr
lamin B receptor
ISO
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:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32827848 More...
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all