bile duct disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	bile duct disease	go back to main search page
Accession:	DOID:4138	browse the term
Definition:	A biliary tract disease located_in one or more bile ducts. (DO)
Synonyms:	exact_synonym:	bile duct diseases; bile duct disorder; disorder of bile duct
	narrow_synonym:	Non-Neoplastic Bile Duct Disorder
	primary_id:	MESH:D001649
	xref:	EFO:1000400; NCI:C96716
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (507) Mouse (505) Human (6762) Chinchilla (430) Bonobo (463) Dog (477) Squirrel (433) Pig (468) Green Monkey (455) Naked Mole-rat (429) All
Genes (497) Strains (1) Cell Lines (9)

bile duct disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor III, tissue factor

mRNA:increased expression:liver

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

ferrochelatase

CTD Direct Evidence: marker/mechanism

NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348

G

MAGE family member E1

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,189,242...70,192,789
Ensembl chr X:70,189,187...70,192,810

Aagenaes syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

unc-45 myosin chaperone A

ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type

PMID:25741868 PMID:28492532

NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586

Alagille syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

jagged canonical Notch ligand 1

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 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

G

notch receptor 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2

CTD
ClinVar
RGD

PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More...

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

ALAGILLE SYNDROME 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and EF-hand domain containing 1

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059

G

hydroxyacid oxidase 1

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721

G

jagged canonical Notch ligand 1

ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More...

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

lysosomal-associated membrane protein family, member 5

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952

G

MKKS centrosomal shuttling protein

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162

G

p21 (RAC1) activated kinase 5

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930

G

phospholipase C beta 1

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869

G

phospholipase C, beta 4

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392

G

SLX4 interacting protein

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797

G

synaptosome associated protein 25

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760

G

thioredoxin-related transmembrane protein 4

ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation

PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More...

NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641

ALAGILLE SYNDROME 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 2

ClinVar Annotator: match by term: Alagille syndrome 2

PMID:16773578 PMID:21378985 PMID:23389697 PMID:24728327 PMID:25016221 More...

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

ARC syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

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

G

VPS33B, late endosome and lysosome associated

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

arthrogryposis, renal dysfunction, and cholestasis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1

PMID:25741868 PMID:31319225

NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117

G

VPS33B, late endosome and lysosome associated

ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1

PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 More...

NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970

arthrogryposis, renal dysfunction, and cholestasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2

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

benign recurrent intrahepatic cholestasis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: Summerskill syndrome
DNA:missense mutation:cds:p.I661T (human)

OMIM
ClinVar
RGD

PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 More...

NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396

benign recurrent intrahepatic cholestasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2

PMID:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 More...

NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730

bile duct adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 7 member 5

disease_progression

RGD

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

bile duct adenoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

DNA:missense mutation:cds:p.V600E (human)

RGD

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

bile duct cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein B

susceptibility

DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human)

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Bile duct cancer

PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More...

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

microRNA 31

exacerbates

RNA:increased expression:bile duct (human)

RGD

NCBI chr 5:103,599,038...103,599,143

G

mutL homolog 1

ClinVar Annotator: match by term: Bile duct cancer

PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More...

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

mutS homolog 2

ClinVar Annotator: match by term: Bile duct cancer

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Bile duct cancer

PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More...

NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:28492532

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

tight junction protein 1

protein:decreased expression:bile duct

RGD

NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432

bile duct carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesothelin

protein:increased expression:bile duct

RGD

NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643

G

solute carrier family 7 member 5

disease_progression

RGD

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

Bile Duct Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aspartate-beta-hydroxylase

mRNA:increased expression:bile duct

RGD

NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876

G

epidermal growth factor receptor

CTD Direct Evidence: therapeutic

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile duct

RGD

NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211

G

interleukin 6

disease_progression

protein:increased expression:serum

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:intrahepatic bile duct (human)

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

O-6-methylguanine-DNA methyltransferase

severity

protein:decreased expression:carcinoma of extrahepatic bile duct (human)

RGD

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

G

marker of proliferation Ki-67

disease_progression

RGD

NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762

G

mucin 16, cell surface associated

protein:increased expression:serum,bile

RGD

NCBI chr 8:16,164,531...16,323,126

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

RGD

NCBI chr11:68,008,245...68,053,242

G

neural cell adhesion molecule 1

disease_progression

RGD

PMID:8501910 PMID:9851639

RGD:2326077, RGD:2326076

NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

RGD

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

biliary atresia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

CD14 molecule

disease_progression

mRNA, protein:increased expression:liver, plasma:

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

delta like non-canonical Notch ligand 1

RGD

NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522

G

gamma-glutamyltransferase 1

disease_progression

RGD

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

GLI family zinc finger 2

disease_progression

RGD

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

G

hepcidin antimicrobial peptide

CTD Direct Evidence: marker/mechanism

NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891

G

intercellular adhesion molecule 1

susceptibility

DNA:missense mutation:cds:p.G241R (human)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 18

susceptibility

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

G

microRNA 145

miRNA:decreased expression:liver (human)

RGD

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 155

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

G

phosphatase and tensin homolog

mRNA:decreased expression:liver (human)

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

sonic hedgehog signaling molecule

disease_progression

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

SRY-box transcription factor 17

NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228

G

serine peptidase inhibitor, Kunitz type 1

disease_progression

mRNA,protein:increased expression:liver:

RGD

NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119

G

serine peptidase inhibitor, Kunitz type, 2

mRNA,protein:increased expression:liver:

RGD

NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

transforming growth factor, beta 1

treatment

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

Caroli disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 2

protein:increased expression:bile duct (rat)

RGD

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

intraflagellar transport 56

ClinVar Annotator: match by term: Caroli disease

PMID:25741868 PMID:31595528 PMID:32617964

NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ClinVar Annotator: match by term: Caroli disease

PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More...

NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381

G

WD repeat domain 19

associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human)

RGD

NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288

Caroli syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381

cholangiocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

susceptibility

DNA:polymorphism:exon:c.3972C>T (human)

RGD

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

adrenoceptor beta 2

protein:decreased expression:liver

RGD

NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512

G

albumin

disease_progression

RGD

PMID:10776430 PMID:17545000 PMID:20431764

RGD:2325682, RGD:2325680, RGD:2325679

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 5-lipoxygenase

protein:increased expression:bile duct

RGD

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

annexin A2

disease_progression

RGD

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

annexin A8

NCBI chr16:9,397,144...9,412,072
Ensembl chr16:9,397,113...9,412,043

G

APC regulator of WNT signaling pathway

DNA:hypermethylation:promoter
DNA:loss of heterozygosity

RGD

PMID:15467712 PMID:10212000

RGD:2317198, RGD:2317205

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

apolipoprotein A1

protein:decreased expression:serum

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

aspartate-beta-hydroxylase

RGD

NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876

G

autophagy related 101

disease_progression

RGD

NCBI chr 7:132,398,477...132,407,643
Ensembl chr 7:132,398,483...132,407,633

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:25231345

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

baculoviral IAP repeat-containing 6

ameliorates

mRNA:increased expression:bile duct (human)

NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434

G

B-Raf proto-oncogene, serine/threonine kinase

DNA:missense mutation:cds:p.V600E (human)

RGD

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

cyclin-dependent kinase inhibitor 2A

onset

protein:decreased expression:liver

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

C-X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084

G

cytochrome c, somatic

RGD

NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054

G

cytochrome P450, family 24, subfamily a, polypeptide 1

protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

G

epidermal growth factor

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868 PMID:28492532

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

epidermal growth factor receptor

CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

erythropoietin

mRNA, protein:increased expression:liver

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

erythropoietin receptor

mRNA, protein:increased expression:liver

RGD

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression
no_association

DNA:SNP: :g.148505302C>T (rs887569) (human)
DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)

RGD

PMID:24179546 PMID:24179546

RGD:126779604, RGD:126779604

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fas ligand

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

fibroblast growth factor 2

protein:increased expression:bile

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile ducts

RGD

NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211

G

GNAS complex locus

disease_progression

DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22561520 PMID:17356712

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

glutathione S-transferase mu 1

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

treatment

DNA:hypermethylation:promoter
human cell line in a mouse model

RGD

PMID:15467712 PMID:12805482

RGD:2317198, RGD:14401711

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

histone deacetylase 6

protein:increased expression:liver:

RGD

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

G

hepatocyte growth factor

mRNA, protein:increased expression: :
protein:increased expression:serum

RGD

PMID:10827151 PMID:16974053

RGD:2317925, RGD:2317909

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

hypoxia inducible factor 1 subunit alpha

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

interleukin 10

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More...

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 19

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More...

NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473

G

interleukin 1 beta

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor type 2

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725

G

interleukin 4 receptor

mRNA:increased expression:bile duct

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 6

ClinVar Annotator: match by term: Cholangiocarcinoma
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

RGD:2317167, RGD:14975292

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

insulin 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

potassium voltage-gated channel subfamily D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:49,775,812...50,277,746
Ensembl chr 4:49,776,246...50,277,728

G

KIT proto-oncogene receptor tyrosine kinase

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:8968066 PMID:22561520

NCBI chr 4:178,185,418...178,218,484

G

keratin 7

RGD

NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052

G

MDM2 proto-oncogene

disease_progression

protein:increased expression:intrahepatic bile duct (human)

RGD

NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)

RGD

PMID:14656942 PMID:16818635

RGD:2317601, RGD:2317578

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

major facilitator superfamily domain containing 4A

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

RGD

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

G

microRNA 155

miRNA:increased expression:serum

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 192

RNA:increased expression:urine

RGD

NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055

G

microRNA 21

RNA:increased expression:urine

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 23b

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763

G

microRNA 494

severity
exacerbates

RGD

PMID:30314946 PMID:30314946

RGD:156420141, RGD:156420141

NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793

G

marker of proliferation Ki-67

disease_progression

RGD

NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:bile duct

RGD

PMID:15213623 PMID:19629755

RGD:2324667, RGD:2325769

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

mRNA:increased expression:bile duct
protein:increased expression:bile duct

RGD

PMID:16463672 PMID:15213623 PMID:15213623

RGD:2325856, RGD:2324667, RGD:2324667

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mesothelin

CTD Direct Evidence: marker/mechanism

NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

mucin 1, cell surface associated

disease_progression

protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:
mRNA:increased expression:bile duct

RGD

PMID:19055478 PMID:19260467 PMID:15213623 PMID:18081149 PMID:19639217

RGD:2324622, RGD:2324664, RGD:2324667, RGD:2324638, RGD:2317986

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

mucin 16, cell surface associated

associated with Opisthorchiasis;protein:increased expression:serum

RGD

NCBI chr 8:16,164,531...16,323,126

G

mucin 17, cell surface associated

mRNA:decreased expression:bile duct

RGD

NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522

G

mucin 2, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

RGD

NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756

G

mucin 3A, cell surface associated

mRNA:decreased expression:bile duct

NCBI chr12:19,450,679...19,454,753

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

RGD

PMID:14752841 PMID:19082442

RGD:2324944, RGD:2303602

NCBI chr11:68,008,245...68,053,242

G

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

protein:increased expression:serum
mRNA:increased expression:bile duct

RGD

PMID:14508831 PMID:11680592

RGD:2324990, RGD:2324948

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

mucin 5B, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

RGD

NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250

G

mucin 6, oligomeric mucus/gel-forming

protein:increased expression: :

RGD

NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842

G

N-acetyltransferase 2

DNA:polymorphisms (human)

RGD

NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520

G

neural cell adhesion molecule 1

associated with hepatitis

RGD

NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014

G

nitric oxide synthase 2

protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16818635 PMID:16094703

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

notch receptor 1

protein:increased expression:cholangiocyte

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

nuclear receptor subfamily 1, group H, member 4

disease_progression

mRNA:decreased expression:liver (rat)

RGD

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

G

8-oxoguanine DNA glycosylase

disease_progression

DNA:loss of heterozygosity (human)

RGD

PMID:11866974 PMID:11260864

RGD:2317134, RGD:2317136

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

oxysterol binding protein 2

mRNA:increased expression:blood

RGD

NCBI chr14:78,585,088...78,746,785
Ensembl chr14:78,585,089...78,746,786

G

oxysterol binding protein-like 7

mRNA:increased expression:blood

RGD

NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557

G

pannexin 2

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361

G

pro-apoptotic WT1 regulator

mRNA,protein:decreased expression:cholangiocyte:

RGD

NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028

G

polybromo 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780

G

paternally expressed 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671

G

pescadillo ribosomal biogenesis factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:78,850,754...78,867,134
Ensembl chr14:78,850,709...78,867,134

G

pirin

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218

G

peptidylprolyl isomerase A

ameliorates

human cell line and construct in a mouse model

RGD

NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601

G

protein phosphatase 3 catalytic subunit alpha

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974

G

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

RGD

NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198

G

proline rich and Gla domain 4

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr 3:91,214,646...91,243,347
Ensembl chr 3:91,214,653...91,243,273

G

protease, serine, 2

protein:increased expression:serum

RGD

NCBI chr 4:70,278,304...70,283,385
Ensembl chr 4:70,278,304...70,283,385

G

serine protease 56

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27022031 PMID:23376645

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:bile duct
ClinVar Annotator: match by term: Cholangiocarcinoma
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:16818635 PMID:19621664

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

Ras association domain family member 8

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690

G

regenerating family member 1 alpha

susceptibility

mRNA, protein:increased expression:liver (human)

RGD

NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570

G

ring finger protein 39

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr20:1,604,794...1,610,283
Ensembl chr20:1,604,794...1,610,283

G

ring finger protein 43

exacerbates

CTD Direct Evidence: marker/mechanism
associated with opisthorchiasis;DNA:SNPs:multiple: (human)

CTD
RGD

PMID:22561520 PMID:22561520

NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977

G

roundabout guidance receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536

G

RUNX family transcription factor 3

protein:decreased expression:bile duct

RGD

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

G

solute carrier family 4 member 4

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697

G

solute carrier family 7 member 5

disease_progression
treatment

RGD

PMID:25475870 PMID:28347255 PMID:24131658

RGD:151361214, RGD:151361294, RGD:151361287

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

G

SMAD family member 4

CTD Direct Evidence: marker/mechanism

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

suppressor of cytokine signaling 3

severity

protein:decreased expression:bile duct (human)

RGD

NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787

G

SRY-box transcription factor 17

severity

RGD

NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228

G

SRY-box transcription factor 2

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

G

transforming growth factor, beta 1

disease_progression

protein:increased expression:pancreas

RGD

PMID:16083599 PMID:12632524

RGD:2325020, RGD:1299231

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transforming growth factor, beta receptor 2

mRNA:increased expression:bile duct

RGD

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

thrombospondin 1

disease_progression

DNA:hypermethylation (human)

RGD

PMID:11927969 PMID:12213730 PMID:16465407

RGD:2325027, RGD:2325026, RGD:2325024

NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440

G

tenascin C

severity

RGD

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

G

TNF alpha induced protein 3

severity

protein:increased expression:bile duct (human)

RGD

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:16818635 PMID:22561520

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

transthyretin

protein:decreased expression:blood serum (human)

RGD

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

G

UDP glucuronosyltransferase family 1 member A9

RGD

NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

vascular endothelial growth factor A

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

WD repeat and HMG-box DNA binding protein 1

ameliorates

RGD

NCBI chr15:20,478,310...20,523,106
Ensembl chr15:20,489,291...20,523,096

G

Wnt family member 9A

disease_progression

mRNA:altered expression:liver (human)

RGD

NCBI chr10:44,094,140...44,121,134
Ensembl chr10:44,094,140...44,121,133

Cholangiofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 ligand

treatment

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

glutathione S-transferase pi 1

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

isocitrate dehydrogenase (NADP(+)) 1

severity

associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human)

RGD

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

microRNA 192

RNA:increased expression:urine

RGD

NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055

G

microRNA 21

RNA:increased expression:urine

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

cholangitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818

G

C-C motif chemokine ligand 2

treatment

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

C-X-C motif chemokine ligand 2

treatment

RGD

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

integrin subunit beta 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799

G

mucin 17, cell surface associated

mRNA:increased expression:bile duct

RGD

NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522

G

NRAS proto-oncogene, GTPase

mRNA:increased expression:cd4-positive helper T cells (human)

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

RGD

NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381

G

transforming growth factor, beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

toll-like receptor 2

disease_progression

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

vitamin D receptor

mRNA,protein:decreased expression:liver

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

cholecystitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

OMIM:600803

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

G

protection of telomeres 1

mRNA:decreased expression:gall bladder

RGD

NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042

choledochal cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690

G

CF transmembrane conductance regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:

CTD
RGD

PMID:18988797 PMID:15830394

NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381

G

secretin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658

G

solute carrier family 4 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965

choledocholithiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268

cholestasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

treatment
susceptibility

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 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

G

ATP-binding cassette, sub-family B member 1B

RGD

NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199

G

ATP binding cassette subfamily B member 4

DNA:mutations: :

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

G

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 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

G

ATP binding cassette subfamily C member 3

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

G

ATP binding cassette subfamily C member 4

treatment

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

G

ATP binding cassette subfamily G member 5

RGD

NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

G

ATP binding cassette subfamily G member 8

RGD

NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912

G

angiotensin I converting enzyme

mRNA:increased expression:liver (rat)

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

ADAM metallopeptidase with thrombospondin type 1 motif, 13

mRNA, protein:increased expression, increased activity:liver, plasma (rat)

RGD

NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

G

alcohol dehydrogenase 5 (class III), chi polypeptide

mRNA, protein:decreased expression:liver

RGD

NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

albumin

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

aldehyde dehydrogenase 1 family, member B1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378

G

aldehyde dehydrogenase 1 family, member L1

treatment

RGD

NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465

G

aldehyde dehydrogenase 8 family, member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:16,183,940...16,203,385
Ensembl chr 1:16,183,940...16,203,385

G

apolipoprotein C3

RGD

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

apolipoprotein E

associated with Pancreatic Neoplasms;protein:increased expression:plasma

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

arginase 1

protein:altered activity:liver (rat)

RGD

NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422

G

branched chain amino acid transaminase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597

G

brain expressed, X-linked 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:99,131,985...99,133,417
Ensembl chr X:99,131,942...99,133,531

G

biliverdin reductase A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033

G

basic helix-loop-helix ARNT like 1

mRNA:increased expression:cholangiocyte

RGD

NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170

G

similar to human chromosome 4 open reading frame 19

CTD Direct Evidence: marker/mechanism

NCBI chr14:44,387,386...44,478,344
Ensembl chr14:44,387,393...44,478,041

G

calcium dependent secretion activator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:51,780,415...52,309,641
Ensembl chr 4:51,781,053...52,309,829

G

catalase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27989131 PMID:21339256

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

CD14 molecule

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

CD44 molecule

protein:decreased expression:jejunum, ileum

RGD

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

CF transmembrane conductance regulator

mRNA,Protein:increased expression

RGD

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

clock circadian regulator

mRNA:increased expression:cholangiocyte

RGD

NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548

G

collagen type I alpha 1 chain

treatment

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

G

ceruloplasmin

protein:increased expression:serum

RGD

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

C-X-C motif chemokine ligand 10

associated with Chronic Hepatitis C; protein:increased expression:serum:

RGD

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

cytochrome P450, family 1, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

cytochrome P450, family 27, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

cytochrome P450, family 2, subfamily b, polypeptide 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143

G

cytochrome P450, family 3, subfamily a, polypeptide 2

disease_progression

RGD

NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008

G

cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1

disease_progression

RGD

NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030
Ensembl chr12:9,254,475...9,285,030

G

cytochrome P450 family 7 subfamily A member 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9797378 PMID:22461449 PMID:29655695

NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688

G

cytochrome P450 family 7 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698

G

cytochrome P450 family 8 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166

G

diacylglycerol O-acyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428

G

DnaJ heat shock protein family (Hsp40) member B9

CTD Direct Evidence: marker/mechanism

NCBI chr 6:61,270,385...61,276,795
Ensembl chr 6:61,269,913...61,275,063

G

DnaJ heat shock protein family (Hsp40) member C12

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

ClinVar Annotator: match by term: Cholestasis

PMID:25741868 PMID:28492532

NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188

G

endoglin

protein:increased expression:liver (rat)

RGD

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

endoplasmic reticulum lectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:104,655,745...104,693,508
Ensembl chr14:104,655,673...104,693,480

G

F2R like thrombin or trypsin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,117,441...17,119,434
Ensembl chr16:17,117,441...17,119,472

G

fibrinogen alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528

G

glucose-6-phosphate dehydrogenase

RGD

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

growth hormone receptor

mRNA,protein:decreased expression:liver, skeletal muscle:

RGD

NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735

G

glutathione S-transferase mu 1

treatment

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

treatment

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

GTP binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241

G

2-hydroxyacyl-CoA lyase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027

G

hydroxyacid oxidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425

G

hemojuvelin BMP co-receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850

G

4-hydroxy-2-oxoglutarate aldolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:240,856,991...240,884,243
Ensembl chr 1:240,857,126...240,884,568

G

haptoglobin

mRNA:increased expression:liver

RGD

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

inhibitor of DNA binding 1

protein:increased expression:liver, nucleus (rat)

RGD

NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419

G

inhibitor of DNA binding 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470

G

insulin-like growth factor 1

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:12826230 PMID:18607346

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 1 alpha

protein:increased expression:liver

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 2

treatment

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

inversin

RGD

NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350

G

KN motif and ankyrin repeat domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514

G

lysine methyltransferase 2B

mRNA:decreased expression:liver (mouse)

RGD

NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326

G

lysosomal-associated membrane protein 2

in hemizygote mutant male (LAMP2y/-)

RGD

NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522

G

lysosomal-associated membrane protein 2; TALEN induced mutant1

in hemizygote mutant male (LAMP2y/-)

RGD

G

lymphocyte antigen 96

CTD Direct Evidence: marker/mechanism

NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386

G

monoamine oxidase B

protein:altered activity:hypothalamus (rat)

RGD

NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003

G

mitogen activated protein kinase 13

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222

G

mitogen activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

membrane bound O-acyltransferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,331,413...34,445,088
Ensembl chr17:34,331,422...34,445,088

G

microRNA 130b

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244

G

microRNA 143

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110

G

microRNA 185

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795

G

microRNA 190

CTD Direct Evidence: marker/mechanism

NCBI chr 8:67,850,987...67,851,071
Ensembl chr 8:67,850,987...67,851,071

G

microRNA 27b

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,813,427...1,813,523
Ensembl chr17:1,813,426...1,813,529

G

microRNA 337

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998

G

microRNA 361

CTD Direct Evidence: marker/mechanism

NCBI chr X:78,246,206...78,246,275
Ensembl chr X:78,246,206...78,246,275

G

microRNA 377

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,755,051...128,755,122

G

microRNA 411

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,723,189...128,723,264
Ensembl chr 6:128,723,184...128,723,279

G

microRNA 875

CTD Direct Evidence: marker/mechanism

NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027

G

microRNA 99a

CTD Direct Evidence: marker/mechanism

NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523

G

microRNA let-7b

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270

G

microRNA let-7i

CTD Direct Evidence: marker/mechanism

NCBI chr 7:58,642,485...58,642,569
Ensembl chr 7:58,642,480...58,642,571

G

matrix metallopeptidase 2

treatment

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: therapeutic

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nuclear transcription factor, X-box binding-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:35,626,086...35,667,505
Ensembl chr14:35,626,066...35,667,498

G

niban apoptosis regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:63,674,240...63,827,748
Ensembl chr13:63,674,171...63,827,729

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12612912 PMID:20626112

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

protein:decreased activity:liver (rat)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

nephrocystin 4

ClinVar Annotator: match by term: Cholestasis

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

G

N-acetylneuraminate pyruvate lyase

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372

G

NAD(P)H quinone dehydrogenase 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22461449 PMID:28337145

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

nuclear receptor subfamily 1, group D, member 1

RGD

NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705

G

nuclear receptor subfamily 1, group H, member 2

CTD Direct Evidence: therapeutic

NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377

G

nuclear receptor subfamily 1, group H, member 3

CTD Direct Evidence: therapeutic

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

nuclear receptor subfamily 1, group H, member 4

treatment
severity

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 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

G

nuclear receptor subfamily 1, group I, member 2

disease_progression

RGD

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

G

nuclear receptor subfamily 1, group I, member 3

disease_progression

RGD

NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906

G

ornithine transcarbamylase

protein:decreased activity:liver (rat)

RGD

NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918

G

poly(A) specific ribonuclease subunit PAN2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744

G

platelet derived growth factor subunit B

mRNA,protein:increased expression:cholangiocyte, bible duct:

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

prodynorphin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

protein kinase AMP-activated catalytic subunit alpha 1

treatment

mRNA:altered expression:liver (rat)

RGD

NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978

G

glycogen phosphorylase, muscle associated

mRNA:decreased expression:liver

RGD

NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368

G

radixin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678

G

receptor accessory protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,945,375...25,983,271
Ensembl chr18:25,945,381...25,976,509

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

refilin B

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,893,693...60,899,970
Ensembl chr10:60,893,713...60,899,976

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

solute carrier family 10 member 1

treatment

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

G

solute carrier family 10, member 7

CTD Direct Evidence: marker/mechanism

NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464

G

solute carrier family 16 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771

G

solute carrier family 23 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697

G

solute carrier family 23 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343

G

solute carrier family 30, member 10

CTD Direct Evidence: marker/mechanism

NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103

G

solute carrier family 51 member A

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485

G

SLC51 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145

G

solute carrier organic anion transporter family, member 1a4

treatment

CTD Direct Evidence: marker/mechanism
mRNA:altered expression:liver (rat)

CTD
RGD

PMID:22461449 PMID:27090119

NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573

G

solute carrier organic anion transporter family member 1B2

mRNA, protein:increased expression:hepatocyte

RGD

NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513

G

sortilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354

G

serine peptidase inhibitor, Kunitz type 1

mRNA:increased expression:liver:

RGD

NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119

G

serine peptidase inhibitor, Kunitz type, 2

mRNA:increased expression:liver:

RGD

NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616

G

signal recognition particle 72

CTD Direct Evidence: marker/mechanism

NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729

G

sulfotransferase family 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295

G

TIMP metallopeptidase inhibitor 1

RGD

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

tight junction protein 1

protein:increased expression:liver

RGD

NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432

G

toll-like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

transmembrane p24 trafficking protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr18:39,318,564...39,325,640
Ensembl chr18:39,297,351...39,325,640

G

transmembrane protein 117

CTD Direct Evidence: marker/mechanism

NCBI chr 7:125,757,591...126,219,692
Ensembl chr 7:125,757,591...126,219,690

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

ubiquitin-like modifier activating enzyme 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894

G

UDP glucuronosyltransferase family 1 member A1

treatment

RGD

NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

ubiquitin specific peptidase 53

ClinVar Annotator: match by term: Cholestasis

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

G

UTP4 small subunit processome component

North American Indian childhood cirrhosis, OMIM:604901, R565W

RGD

NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

villin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858

G

VPS33B, late endosome and lysosome associated

ARC syndrome, OMIM:208085

RGD

NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970

G

WD repeat domain, phosphoinositide interacting 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846

G

xanthine dehydrogenase

protein:alternative form:liver

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

chronic cholangitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

RGD

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

COACH syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Abelson helper integration site 1

ClinVar Annotator: match by term: Joubert syndrome with ocular defect

PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More...

NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041

G

Ofd1 centriole and centriolar satellite protein

ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis

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

G

transmembrane protein 67

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

COACH Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil and C2 domain containing 2A

ClinVar Annotator: match by term: COACH syndrome 1

PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 More...

NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949

G

Rpgrip1-like

ClinVar Annotator: match by term: COACH syndrome 1

PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 More...

NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083

G

transmembrane protein 67

ClinVar Annotator: match by term: COACH syndrome 1

PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 More...

NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334

COACH Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil and C2 domain containing 2A

ClinVar Annotator: match by term: COACH syndrome 2

PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 More...

NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949

COACH Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rpgrip1-like

ClinVar Annotator: match by term: COACH syndrome 3

PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 More...

NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083

common bile duct neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein B

protein:increased expression:serum

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

fascin actin-bundling protein 1

mRNA, protein:increased expression: :

RGD

NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211

G

mesothelin

protein:increased expression:common bile duct, ampulla of vater

RGD

NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643

G

methylthioadenosine phosphorylase

DNA, protein:deletion, decreased expression:common bile duct:

RGD

NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406

G

mucin 1, cell surface associated

disease_progression

protein:increased expression:bile duct

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

mucin 4, cell surface associated

protein:increased expression:pancreas

RGD

NCBI chr11:68,008,245...68,053,242

G

mucin 5AC, oligomeric mucus/gel-forming

protein:altered expression:pancreas

RGD

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

thymidine phosphorylase

disease_progression

RGD

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

congenital bile acid synthesis defect

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1, member D1

ClinVar Annotator: match by term: Congenital bile acid synthesis defect

NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372

G

cytochrome P450 family 7 subfamily B member 1

ClinVar Annotator: match by term: Congenital bile acid synthesis defect

PMID:25741868 PMID:28492532

NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698

congenital bile acid synthesis defect 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

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 More...

NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442

congenital bile acid synthesis defect 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1, member D1

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 More...

NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372

congenital bile acid synthesis defect 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450 family 7 subfamily B member 1

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 More...

NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698

congenital bile acid synthesis defect 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-methylacyl-CoA racemase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4

OMIM
CTD
ClinVar

PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More...

NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255

G

solute carrier family 45, member 2

ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4

PMID:25741868 PMID:28492532

NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317

congenital bile acid synthesis defect 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 3

ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5
OMIM:616278

OMIM
ClinVar
MouseDO

PMID:25168382 PMID:25741868 PMID:28492532

NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020

congenital bile acid synthesis defect 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA oxidase 2

ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27647924 More...

NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160

extrahepatic bile duct adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

disease_progression

RGD

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

polybromo 1

disease_progression

RGD

NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780

G

Rac family small GTPase 1

protein:increased expression:mucosa (human)

RGD

NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251

G

solute carrier family 7 member 5

disease_progression

RGD

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

extrahepatic bile duct carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465

G

exportin 1

disease_progression

protein:increased expression:extrahepatic bile duct (human)

RGD

NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498

extrahepatic cholestasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

mRNA,protein:increased expression:liver, basolateral plasma membrane (rat)

RGD

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

ATP binding cassette subfamily C member 4

treatment

mRNA:increased expression:liver (rat)

RGD

NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

Cd68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

corticotropin releasing hormone

protein:decreased expression:hypothalamus (rat)

RGD

NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919

G

cytoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442

G

cytochrome P450, family 27, subfamily a, polypeptide 1

treatment

mRNA:decreased expression:liver (rat)

RGD

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

cytochrome P450 family 7 subfamily A member 1

treatment

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

G

cytochrome P450 family 8 subfamily B member 1

treatment

mRNA:decreased expression:liver (rat)

RGD

NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

gap junction protein, beta 1

mRNA,protein:decreased expression:liver:

RGD

NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925

G

gap junction protein, beta 2

RGD

NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

RGD

NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

3-hydroxy-3-methylglutaryl-CoA synthase 2

mRNA, protein:decreased expression:liver, mitochondrion (rat)

RGD

NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130

G

HNF1 homeobox A

mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat)

RGD

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

Kelch-like ECH-associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862

G

galectin 1

mRNA:increased expression:liver (rat)

RGD

NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345

G

mitogen activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

G

mitogen activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

mitogen activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

mitogen-activated protein kinase 8

CTD Direct Evidence: marker/mechanism

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

mitogen-activated protein kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819

G

MYD88, innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30026087 PMID:31900718

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

nuclear receptor subfamily 1, group H, member 4

treatment
disease_progression

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

G

opioid receptor, mu 1

mRNA:decreased expression:hypothalamus, hippocampus

RGD

NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409

G

platelet derived growth factor receptor beta

treatment

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

pleiotrophin

mRNA:increased expression:liver (rat)

RGD

NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

SET domain containing 7, histone lysine methyltransferase

treatment

RGD

NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468

G

solute carrier family 22 member 1

protein:decreased expression:kidney

RGD

NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678

G

solute carrier family 22 member 2

protein:increased expression:kidney

RGD

NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087 PMID:31932644

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611

G

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Familial Primary Biliary Cirrhosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tight junction protein 2

ClinVar Annotator: match by term: Familial primary biliary cirrhosis

PMID:25741868 PMID:28492532 PMID:32439973

NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295

fascioliasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cathepsin B

protein:decreased activity:liver (rat)

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

glutamate dehydrogenase 1

protein:increased expression:serum

RGD

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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 More...

NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938

Hardikar Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 12

ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome

PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

hereditary spherocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 1

severity

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)

PMID:25741868 PMID:28492532 PMID:8640229 PMID:14671619 PMID:9054656 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

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

dihydroorotate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Spherocytosis, Recessive

PMID:28492532 PMID:1558976

NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932

G

glucose-6-phosphate isomerase

ClinVar Annotator: match by term: Hereditary spherocytosis

NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086

G

KLF transcription factor 1

DNA:missense mutation:exon:p.E339D (1065A>T) (human)

NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758

G

olfactory receptor family 10 subfamily Z member 1

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642

G

solute carrier family 4 member 1 (Diego blood group)

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 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

G

spectrin, alpha, erythrocytic 1

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:

PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More...

RGD:11059521, RGD:11059522

NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371

G

spectrin, beta, erythrocytic

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 More...

NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

hereditary spherocytosis type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 2

OMIM:182900

NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505

G

ankyrin 1

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 More...

NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759

G

erythrocyte membrane protein band 4.2

OMIM:182900

NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932

G

spectrin, alpha, erythrocytic 1

OMIM:182900

NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371

hereditary spherocytosis type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RhoGEF domain containing G3

ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition

NCBI chr 6:95,265,756...95,308,952
Ensembl chr 6:95,266,058...95,310,359

G

spectrin, beta, erythrocytic

ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition

PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More...

NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118

hereditary spherocytosis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

olfactory receptor family 10 subfamily Z member 1

ClinVar Annotator: match by term: Hereditary spherocytosis type 3

NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642

G

spectrin, alpha, erythrocytic 1

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 More...

NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371

hereditary spherocytosis type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 4 member 1 (Diego blood group)

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 More...

NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117

hereditary spherocytosis type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythrocyte membrane protein band 4.2

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 More...

NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932

ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
DNA:deletion, nonsense mutation:exon:200_201delTT(human)

OMIM
CTD
ClinVar
RGD

PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More...

NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724

G

claudin 16

ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome

PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532

NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588

intrahepatic cholangiocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma

PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More...

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

AT-rich interaction domain 1A

disease_progression
exacerbates

mRNA,protein:decreased expression:intrahepatic bile duct (human)

RGD

PMID:30849962 PMID:27433094 PMID:31665232

RGD:14974231, RGD:126775257, RGD:126781775

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

BRCA1 associated deubiquitinase 1

disease_progression

RGD

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

beclin 1

disease_progression

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

B-Raf proto-oncogene, serine/threonine kinase

severity

DNA:missense mutation:cds:p.V600E (human)

RGD

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

Fas cell surface death receptor

disease_progression

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

severity

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

forkhead box P3

DNA:hypomethylation:liver

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

heat shock protein 90 alpha family class A member 1

disease_progression

protein:increased expression:liver (human)

RGD

NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268

G

heat shock protein 90 alpha family class B member 1

disease_progression

protein:increased expression:liver (human)

RGD

NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488

G

isocitrate dehydrogenase (NADP(+)) 1

no_association

DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)

RGD

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

DNA:mutations: :
mRNA:decreased expression:liver (mouse)

RGD

PMID:22824796 PMID:32463951

RGD:14985256, RGD:149735894

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

lysine demethylase 5C

exacerbates

protein:decreased expression:bile duct (human)

NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations::

NCBI chr 4:178,185,418...178,218,484

G

lipocalin 2

treatment

Protein:increased expression:bile duct

RGD

PMID:24939880 PMID:24939880

RGD:126790491, RGD:126790491

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

G

LDL receptor related protein 1B

exacerbates

DNA:mutations:multiple: (human)

RGD

NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691

G

microRNA 152

miRNA:decreased expression:intrahepatic bile duct

RGD

NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020

G

microRNA 200b

RNA:increased expression:liver

RGD

NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366

G

microRNA 21

RNA:increased expression:liver,plasma

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 221

severity

RGD

NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573

G

polybromo 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

PMID:30377796 PMID:27864835

RGD:152998946, RGD:150340628

NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780

G

phosphatase and tensin homolog

disease_progression

protein:decreased expression:liver (human)

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

ring finger protein 43

exacerbates

mRNA, protein:decreased expression:liver, bile duct epithelium (human)

RGD

NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977

G

RUNX family transcription factor 1

mRNA:increased expression:intrahepatic bile duct

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

S100 calcium binding protein B

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

G

SMAD family member 4

disease_progression

mRNA,protein:decreased expression:intrahepatic bile duct

RGD

PMID:16917866 PMID:23981608

RGD:18936999, RGD:21066336

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

telomerase associated protein 1

mRNA:increased expression:hepatocyte,biliary epithelium.

RGD

NCBI chr15:24,045,876...24,093,526
Ensembl chr15:24,045,878...24,093,526

G

telomerase RNA component

RNA:increased expression:hepatocyte,biliary epithelium.

RGD

NCBI chr 2:112,815,654...112,816,041

intrahepatic cholestasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

susceptibility

ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More...

RGD:1598583, RGD:14688049

NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730

G

ATP binding cassette subfamily B member 4

treatment

ClinVar Annotator: match by term: Progressive intrahepatic cholestasis
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human)
OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878

ClinVar
MouseDO
RGD

PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 More...

RGD:1300325, RGD:14695045, RGD:14695044

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

G

adaptor related protein complex 1 subunit sigma 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713

G

ATPase phospholipid transporting 8B1

susceptibility

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 More...

NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396

G

C-X-C motif chemokine ligand 2

mRNA:increased expression:liver

RGD

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

cytochrome P450, family 2, subfamily e, polypeptide 1

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

early growth response 1

CTD Direct Evidence: marker/mechanism

PMID:18364083 PMID:22094456

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

ectonucleoside triphosphate diphosphohydrolase 1

protein:decreased activity,altered location:liver:

RGD

NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

CBAS1, OMIM:607765

RGD

NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442

G

MAF bZIP transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365

G

MAF bZIP transcription factor G

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,903,307...105,911,808
Ensembl chr10:105,903,237...105,912,026

G

microRNA 27a

mRNA:increased expression:liver (mouse)

RGD

NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917

G

nuclear receptor subfamily 0, group B, member 2

mRNA, protein:increased expression:liver

RGD

NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609

G

nuclear receptor subfamily 1, group H, member 4

RGD

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

G

solute carrier family 22 member 1

mRNA, protein:decreased expression:liver

RGD

NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678

G

solute carrier family 22 member 2

mRNA, protein:decreased expression:kidney

RGD

NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268

G

tight junction protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295

intrahepatic cholestasis of pregnancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396

G

histone deacetylase 3

severity

RGD

NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856

G

interleukin 18

severity

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

intrahepatic cholestasis of pregnancy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1

PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 More...

NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396

intrahepatic cholestasis of pregnancy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3

PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More...

NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3

PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More...

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

Isolated Caroli Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree

PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 More...

NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381

Klatskin's tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Klatskin tumor

PMID:25741868 PMID:28492532

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

AT-rich interaction domain 1A

disease_progression

DNA:deletions

RGD

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

GATA binding protein 6

sexual_dimorphism

DNA:mutations

RGD

NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532

G

lysine methyltransferase 2C

onset

DNA:mutations

RGD

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations

RGD

NCBI chr 4:178,185,418...178,218,484

G

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

PMID:33387086 PMID:33387086

RGD:126848756, RGD:126848756

NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VPS50 subunit of EARP/GARPII complex

ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis

PMID:25741868 PMID:34037727

NCBI chr 4:31,484,424...31,585,617
Ensembl chr 4:31,484,463...31,585,617

North American Indian Childhood Cirrhosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

UTP4 small subunit processome component

ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis

PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More...

NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550

obstructive jaundice

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

G

adrenomedullin

protein:increased expression:plasma:

RGD

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

G

albumin

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

C-C motif chemokine ligand 2

treatment

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

CD14 molecule

mRNA:increased expression:ileum, liver, lung, spleen

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

complement factor H

protein:decreased expression:plasma:

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

glutamic--pyruvic transaminase

RGD

NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494

G

hydroxymethylbilane synthase

Protein:increased activity:liver (rat)

RGD

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957

G

high mobility group box 1

protein:increased expression:liver, plasma

RGD

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

interferon regulatory factor 5

mRNA,protein:increased expression:liver,nucleus:

RGD

NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267

G

lipopolysaccharide binding protein

mRNA:increased expression:liver

RGD

NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586

G

proliferating cell nuclear antigen

treatment