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 (468)

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

NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666

G

ferrochelatase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591

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 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960

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: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia

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

NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641

G

notch receptor 2

ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2

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

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

ALAGILLE SYNDROME 1

term browser

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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 chr17:18,958,165...18,979,703
Ensembl chr17:18,958,165...18,980,560

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 chr17:16,746,153...16,802,460
Ensembl chr17:16,744,442...16,802,442

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 chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641

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 chr17:18,434,106...18,452,689
Ensembl chr17:18,434,658...18,452,927

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 chr17:19,341,024...19,363,007
Ensembl chr17:19,341,636...19,362,871

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 chr17:18,461,060...18,785,869
Ensembl chr17:18,461,062...18,785,313

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 chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313

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 chr17:17,915,984...18,402,540
Ensembl chr17:17,916,110...18,402,532

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 chr17:19,363,727...19,578,132

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 chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576

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 chr17:16,834,869...16,881,328
Ensembl chr17:16,831,932...16,881,350

ALAGILLE SYNDROME 2

term browser

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Object Name

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Evidence

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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 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

ARC syndrome

term browser

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Object Name

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Evidence

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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 with renal dysfunction and cholestasis syndrome

PMID:20190753 PMID:25741868

NCBI chr 7:100,482,953...100,510,164
Ensembl chr 7:100,482,956...100,506,161

G

VPS33B late endosome and lysosome associated

ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome

PMID:25741868 PMID:28492532

NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716

arthrogryposis, renal dysfunction, and cholestasis 1

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

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G

fibrillin 1

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

NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649

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 7:100,482,953...100,510,164
Ensembl chr 7:100,482,956...100,506,161

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 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716

arthrogryposis, renal dysfunction, and cholestasis 2

term browser

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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 7:100,482,953...100,510,164
Ensembl chr 7:100,482,956...100,506,161

benign recurrent intrahepatic cholestasis 1

term browser

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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

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

NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612

benign recurrent intrahepatic cholestasis 2

term browser

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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 chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403

bile duct adenocarcinoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 7 member 5

disease_progression

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

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)

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

bile duct cancer

term browser

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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)

NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330

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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

microRNA mir-31

exacerbates

RNA:increased expression:bile duct (human)

NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809

G

mutL homolog 1

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757

G

mutS homolog 2

ClinVar Annotator: match by term: Bile duct cancer

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834

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 chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:28492532

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

G

tight junction protein 1

protein:decreased expression:bile duct

NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,370...145,195,836

bile duct carcinoma

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

mesothelin

protein:increased expression:bile duct

NCBI chr 3:41,025,892...41,029,302

G

solute carrier family 7 member 5

disease_progression

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

Bile Duct Neoplasms

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

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G

aspartate beta-hydroxylase

mRNA:increased expression:bile duct

NCBI chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,318...72,107,044

G

epidermal growth factor receptor

CTD Direct Evidence: therapeutic

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile duct

NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,177...4,143,286

G

interleukin 6

disease_progression

protein:increased expression:serum

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:intrahepatic bile duct (human)

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

O-6-methylguanine-DNA methyltransferase

severity

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

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

marker of proliferation Ki-67

disease_progression

NCBI chr14:137,266,622...137,296,312

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr13:134,192,412...134,248,435

G

neural cell adhesion molecule 1

disease_progression

PMID:8501910 PMID:9851639

RGD:2326076 RGD:2326077

NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026

biliary atresia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646

G

CD14 molecule

disease_progression

mRNA, protein:increased expression:liver, plasma:

NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

delta like non-canonical Notch ligand 1

NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654

G

GLI family zinc finger 2

disease_progression

NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306

G

hepcidin antimicrobial peptide

CTD Direct Evidence: marker/mechanism

NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305

G

intercellular adhesion molecule 1

susceptibility

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

NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205

G

interleukin 18

susceptibility

protein:increased expression:serum:
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)

PMID:10726686 PMID:30059753

RGD:14695528 RGD:14695529

NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219

G

microRNA mir-145

miRNA:decreased expression:liver (human)

NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211

G

microRNA mir-155

miRNA:increased expression:liver

PMID:27817193 PMID:28355202

RGD:24922206 RGD:25671379

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

phosphatase and tensin homolog

mRNA:decreased expression:liver (human)

NCBI chr14:99,929,590...100,021,619

G

sonic hedgehog signaling molecule

disease_progression

NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484

G

SRY-box transcription factor 17

NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148

G

serine peptidase inhibitor, Kunitz type 1

disease_progression

mRNA,protein:increased expression:liver:

NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783

G

serine peptidase inhibitor, Kunitz type 2

mRNA,protein:increased expression:liver:

NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559

G

secreted phosphoprotein 1

NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340

G

transforming growth factor beta 1

treatment

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

Caroli disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 2

protein:increased expression:bile duct (rat)

NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041

G

intraflagellar transport 56

ClinVar Annotator: match by term: Caroli disease

PMID:25741868 PMID:31595528 PMID:32617964

NCBI chr18:10,462,670...10,509,595
Ensembl chr18:10,462,669...10,509,565

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 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149

G

WD repeat domain 19

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

NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703

Caroli syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149

cholangiocarcinoma

term browser

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Evidence

Notes

Source

PubMed Reference(s)

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Position

G

ATP binding cassette subfamily C member 2

susceptibility

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

NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898

G

adrenoceptor beta 2

protein:decreased expression:liver

NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731

G

albumin

disease_progression

PMID:10776430 PMID:17545000 PMID:20431764

RGD:2325679 RGD:2325680 RGD:2325682

NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

G

arachidonate 5-lipoxygenase

protein:increased expression:bile duct

NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090

G

annexin A2

disease_progression

NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059

G

APC regulator of WNT signaling pathway

DNA:loss of heterozygosity
DNA:hypermethylation:promoter

PMID:10212000 PMID:15467712

RGD:2317198 RGD:2317205

NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

apolipoprotein A1

protein:decreased expression:serum

NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

aspartate beta-hydroxylase

NCBI chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,318...72,107,044

G

autophagy related 101

disease_progression

NCBI chr 5:17,418,085...17,425,770
Ensembl chr 5:17,418,121...17,425,624

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:25231345

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

baculoviral IAP repeat containing 6

ameliorates

mRNA:increased expression:bile duct (human)

NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,012,986...107,269,477

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

cyclin dependent kinase inhibitor 2A

onset

protein:decreased expression:liver

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

C-X-C motif chemokine ligand 8

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

cytochrome c, somatic

NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866

G

cytochrome P450 family 24 subfamily A member 1

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

NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363

G

epidermal growth factor

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868 PMID:28492532

NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

erythropoietin

mRNA, protein:increased expression:liver

NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936

G

erythropoietin receptor

mRNA, protein:increased expression:liver

NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

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)

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

Fas ligand

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

fibroblast growth factor 2

protein:increased expression:bile

NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile ducts

NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,177...4,143,286

G

GNAS complex locus

disease_progression

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

PMID:17356712 PMID:22561520

NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021

G

histone deacetylase 6

protein:increased expression:liver:

NCBI chr X:42,917,911...42,941,894
Ensembl chr X:42,917,964...42,941,887

G

hepatocyte growth factor

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

PMID:10827151 PMID:16974053

RGD:2317909 RGD:2317925

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

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 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

interleukin 10

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 19

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813

G

interleukin 1 receptor type 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334

G

interleukin 4 receptor

mRNA:increased expression:bile duct

NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544

G

interleukin 6

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

insulin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841

G

potassium voltage-gated channel subfamily D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,139,457...26,624,210
Ensembl chr18:26,139,457...26,623,233

G

KIT proto-oncogene, receptor tyrosine kinase

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:8968066 PMID:22561520

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

keratin 7

NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,728...17,570,581

G

mesothelin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,025,892...41,029,302

G

glutathione S-transferase P-like

treatment

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

PMID:12805482 PMID:15467712

RGD:14401711 RGD:2317198

NCBI chr 2:5,005,498...5,009,247

G

interleukin-1 beta-like

ClinVar Annotator: match by term: Cholangiocarcinoma

G

MDM2 proto-oncogene

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

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

PMID:14656942 PMID:16818635

RGD:2317578 RGD:2317601

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

major facilitator superfamily domain containing 4A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 9:66,249,434...66,292,482
Ensembl chr 9:66,249,678...66,288,338

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

microRNA mir-155

miRNA:increased expression:serum

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

microRNA mir-192

RNA:increased expression:urine

NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746

G

microRNA mir-21

RNA:increased expression:urine

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

G

microRNA mir-23b

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276

G

marker of proliferation Ki-67

disease_progression

NCBI chr14:137,266,622...137,296,312

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:bile duct

PMID:15213623 PMID:19629755

RGD:2324667 RGD:2325769

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

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

PMID:15213623 PMID:16463672

RGD:2324667 RGD:2325856

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism (human)

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

mucin 1, cell surface associated

disease_progression

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

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

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

NCBI chr 4:94,626,317...94,631,194

G

mucin 2, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

PMID:14752841 PMID:19082442

RGD:2303602 RGD:2324944

NCBI chr13:134,192,412...134,248,435

G

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

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

PMID:11680592 PMID:14508831

RGD:2324948 RGD:2324990

NCBI chr 2:757,897...790,321

G

mucin 5B, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr 2:807,685...842,096

G

mucin 6, oligomeric mucus/gel-forming

protein:increased expression: :

NCBI chr 2:630,075...657,967
Ensembl chr 2:629,796...655,380

G

neural cell adhesion molecule 1

associated with hepatitis

NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591

G

nitric oxide synthase 2

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

PMID:16094703 PMID:16818635

NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146

G

notch receptor 1

protein:increased expression:cholangiocyte

G

nuclear receptor subfamily 1 group H member 4

disease_progression

mRNA:decreased expression:liver (rat)

NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604

G

8-oxoguanine DNA glycosylase

disease_progression

DNA:loss of heterozygosity (human)

PMID:11260864 PMID:11866974

RGD:2317134 RGD:2317136

NCBI chr13:66,038,669...66,045,478

G

oxysterol binding protein 2

mRNA:increased expression:blood

NCBI chr14:47,558,088...47,737,994
Ensembl chr14:47,551,516...47,737,997

G

oxysterol binding protein like 7

mRNA:increased expression:blood

NCBI chr12:24,059,128...24,075,102
Ensembl chr12:24,059,124...24,076,109

G

pannexin 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 5:497,380...506,126
Ensembl chr 5:497,385...506,013

G

pro-apoptotic WT1 regulator

mRNA,protein:decreased expression:cholangiocyte:

NCBI chr 5:101,693,145...101,797,842
Ensembl chr 5:101,693,246...101,797,838

G

polybromo 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952

G

paternally expressed 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:61,281,931...61,307,788
Ensembl chr 6:61,285,456...61,292,885

G

pescadillo ribosomal biogenesis factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:47,478,378...47,495,983
Ensembl chr14:47,476,801...47,495,982

G

pirin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr X:11,934,157...12,034,629
Ensembl chr X:11,934,163...12,033,746

G

peptidylprolyl isomerase A

ameliorates

human cell line and construct in a mouse model

NCBI chr18:50,563,130...50,566,857

G

protein phosphatase 3 catalytic subunit alpha

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 2:65,074,876...65,095,564
Ensembl chr 2:65,074,870...65,095,551

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,520,397...129,636,207
Ensembl chr 6:129,520,376...129,635,733

G

proline rich and Gla domain 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 2:28,061,598...28,081,376
Ensembl chr 2:28,062,626...28,081,249

G

serine protease 2

protein:increased expression:serum

NCBI chr18:7,443,327...7,446,625
Ensembl chr18:7,443,327...7,446,625

G

serine protease 56

disease_progression

mRNA:altered expression:liver (human)

NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,255...133,039,367

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

PMID:23376645 PMID:27022031

NCBI chr14:99,929,590...100,021,619

G

prostaglandin-endoperoxide synthase 2

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

Ras association domain family member 8

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 5:47,729,747...47,847,470
Ensembl chr 5:47,729,751...47,847,452

G

ring finger protein 39

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 7:22,637,732...22,642,427
Ensembl chr 7:22,636,904...22,642,612

G

ring finger protein 43

exacerbates

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

NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378

G

roundabout guidance receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:177,365,712...179,040,027
Ensembl chr13:177,365,772...179,013,542

G

RUNX family transcription factor 3

protein:decreased expression:bile duct

NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026

G

solute carrier family 4 member 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 8:67,768,955...68,177,213
Ensembl chr 8:67,706,874...68,177,212

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,155...59,885,266

G

solute carrier family 7 member 5

disease_progression
treatment

PMID:24131658 PMID:25475870 PMID:28347255

RGD:151361214 RGD:151361287 RGD:151361294

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

SMAD family member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029

G

suppressor of cytokine signaling 3

severity

protein:decreased expression:bile duct (human)

NCBI chr12:3,643,832...3,647,015
Ensembl chr12:3,643,929...3,647,009

G

SRY-box transcription factor 17

severity

NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148

G

SRY-box transcription factor 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435

G

transforming growth factor beta 1

disease_progression

protein:increased expression:pancreas

PMID:12632524 PMID:16083599

RGD:1299231 RGD:2325020

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

transforming growth factor beta receptor 2

mRNA:increased expression:bile duct

NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160

G

thrombospondin 1

disease_progression

DNA:hypermethylation (human)

PMID:11927969 PMID:12213730 PMID:16465407

RGD:2325024 RGD:2325026 RGD:2325027

NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115

G

tenascin C

severity

NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376

G

TNF alpha induced protein 3

severity

protein:increased expression:bile duct (human)

NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:16818635 PMID:22561520

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

transthyretin

protein:decreased expression:blood serum (human)

NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

G

vascular endothelial growth factor A

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

WD repeat and HMG-box DNA binding protein 1

ameliorates

NCBI chr 1:184,300,291...184,378,974
Ensembl chr 1:184,300,293...184,378,959

G

Wnt family member 9A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 2:51,102,757...51,128,346
Ensembl chr 2:51,102,763...51,128,346

Cholangiofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 ligand

treatment

NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709

G

isocitrate dehydrogenase (NADP(+)) 1

severity

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

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

glutathione S-transferase P-like

NCBI chr 2:4,978,761...4,982,233

G

microRNA mir-192

RNA:increased expression:urine

NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746

G

microRNA mir-21

RNA:increased expression:urine

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

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 9:93,171,371...93,262,124

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259

G

chemokine (C-C motif) ligand 2

treatment

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004

G

chemokine (C-X-C motif) ligand 2

treatment

NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296

G

integrin subunit beta 6

CTD Direct Evidence: marker/mechanism

NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,115,453...21,119,115
Ensembl chr12:21,115,448...21,119,107

G

NRAS proto-oncogene, GTPase

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296

G

toll like receptor 2

disease_progression

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

vitamin D receptor

mRNA,protein:decreased expression:liver

NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475

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 9:93,171,371...93,262,124

G

protection of telomeres 1

mRNA:decreased expression:gall bladder

NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890

choledochal cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1 (Colton blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746

G

CF transmembrane conductance regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

PMID:15830394 PMID:18988797

NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149

G

secretin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841

G

solute carrier family 4 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:6,149,459...6,166,622
Ensembl chr18:6,149,459...6,165,212

choledocholithiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparaginase

CTD Direct Evidence: marker/mechanism

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

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

PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 More...

RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571

NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403

G

ATP binding cassette subfamily B member 4

DNA:mutations: :

PMID:11680581 PMID:26324191

RGD:11565494 RGD:1598589

NCBI chr 9:93,171,371...93,262,124

G

ATP binding cassette subfamily C member 2

disease_progression
treatment

mRNA,protein:decreased expression:intestine:
mRNA:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism

PMID:10869290 PMID:12702498 PMID:15057744 PMID:16037978 PMID:17009103 More...

RGD:11081007 RGD:11081011 RGD:15090804 RGD:1598571 RGD:1598614

NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898

G

ATP binding cassette subfamily C member 3

protein:increased expression:liver
CTD Direct Evidence: marker/mechanism

PMID:18096675 PMID:22461449 PMID:23486593

RGD:11535162 RGD:2301060

NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,979,602

G

ATP binding cassette subfamily G member 5

NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889

G

ATP binding cassette subfamily G member 8

NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229

G

angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

mRNA:increased expression:liver (rat)

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

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

NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039

G

alcohol dehydrogenase 5 (class III), chi polypeptide

mRNA, protein:decreased expression:liver

NCBI chr 8:121,266,794...121,282,313
Ensembl chr 8:121,266,764...121,282,310

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833

G

albumin

NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

G

aldehyde dehydrogenase 1 family member B1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:239,109,814...239,114,736
Ensembl chr 1:239,109,809...239,114,730

G

aldehyde dehydrogenase 1 family member L1

treatment

NCBI chr 7:53,748,585...53,794,777
Ensembl chr 7:53,748,653...53,794,706

G

aldehyde dehydrogenase 8 family member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,060,682...29,083,815
Ensembl chr 1:29,060,701...29,083,143

G

apolipoprotein C3

NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533

G

apolipoprotein E

associated with Pancreatic Neoplasms;protein:increased expression:plasma

NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330

G

arginase 1

protein:altered activity:liver (rat)

NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988

G

aryl hydrocarbon receptor nuclear translocator like

mRNA:increased expression:cholangiocyte

NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...45,988,570

G

branched chain amino acid transaminase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,313...48,925,973

G

brain expressed X-linked 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:84,147,133...84,148,680
Ensembl chr X:84,147,183...84,149,084

G

biliverdin reductase A

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,131,576...51,185,493
Ensembl chr18:51,131,584...51,185,435

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:182,209,850...182,228,626
Ensembl chr13:182,208,958...182,227,971

G

chromosome 8 C4orf19 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 8:29,012,884...29,103,163
Ensembl chr 8:29,013,082...29,103,160

G

calcium dependent secretion activator 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:24,372,547...24,867,287
Ensembl chr18:24,372,544...24,867,482

G

catalase

CTD Direct Evidence: marker/mechanism

PMID:21339256 PMID:27989131

NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452

G

CD14 molecule

NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581

G

CD44 molecule

protein:decreased expression:jejunum, ileum

NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153

G

CF transmembrane conductance regulator

mRNA,Protein:increased expression

NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950

G

clock circadian regulator

mRNA:increased expression:cholangiocyte

NCBI chr 8:54,793,323...54,910,192
Ensembl chr 8:54,793,342...54,877,777

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:81,659,162...81,692,550
Ensembl chr 6:81,659,169...81,692,550

G

collagen type I alpha 1 chain

treatment

mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)

PMID:21274875 PMID:22094456 PMID:22824087

RGD:8552675 RGD:8552699 RGD:8552776

NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004

G

ceruloplasmin

protein:increased expression:serum

NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476

G

C-X-C motif chemokine ligand 10

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

NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948

G

chemokine (C-X-C motif) ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100

G

cytochrome P450 family 27 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192

G

cytochrome P450 family 2 subfamily B member 6B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334

G

cytochrome P450 family 7 subfamily A member 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:9797378 PMID:22461449 PMID:29655695

NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,343,123...74,372,621

G

cytochrome P450 family 7 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496

G

cytochrome P450 family 8 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,233...26,331,738

G

diacylglycerol O-acyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:10,032,163...10,066,082
Ensembl chr 9:10,032,128...10,068,437

G

DnaJ heat shock protein family (Hsp40) member B9

CTD Direct Evidence: marker/mechanism

NCBI chr18:36,578,928...36,584,211
Ensembl chr18:36,579,453...36,584,130

G

DnaJ heat shock protein family (Hsp40) member C12

CTD Direct Evidence: marker/mechanism

NCBI chr14:71,005,326...71,050,397
Ensembl chr14:71,005,056...71,041,040

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296

G

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

ClinVar Annotator: match by term: Cholestasis

PMID:25741868 PMID:28492532

NCBI chr13:123,104,085...123,162,119
Ensembl chr13:123,104,101...123,176,086

G

endoglin

protein:increased expression:liver (rat)

NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783

G

endoplasmic reticulum lectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:87,362,166...87,389,814
Ensembl chr 3:87,355,904...87,389,814

G

F2R like thrombin or trypsin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,742,978...60,747,014
Ensembl chr 2:60,742,996...60,744,864

G

fibrinogen alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202

G

glucose-6-phosphate dehydrogenase

NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040

G

growth hormone receptor

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

NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449

G

GTP binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,598,763...38,613,217
Ensembl chr 7:38,603,474...38,613,647

G

2-hydroxyacyl-CoA lyase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,514...2,840,902

G

hydroxyacid oxidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:101,588,510...101,787,818
Ensembl chr 4:101,588,861...101,732,304

G

hemojuvelin BMP co-receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:99,327,989...99,332,647
Ensembl chr 4:99,328,053...99,332,645

G

4-hydroxy-2-oxoglutarate aldolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:108,958,812...108,986,373
Ensembl chr14:108,958,973...108,986,707

G

haptoglobin

mRNA:increased expression:liver

NCBI chr 6:14,980,382...14,985,245

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205

G

inhibitor of DNA binding 1

protein:increased expression:liver, nucleus (rat)

NCBI chr17:35,316,518...35,317,742
Ensembl chr17:35,316,514...35,317,736

G

inhibitor of DNA binding 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:15,281,535...15,284,895
Ensembl chr 7:15,281,757...15,282,839

G

insulin like growth factor 1

CTD Direct Evidence: therapeutic

PMID:12826230 PMID:18607346

NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033

G

interleukin 1 alpha

protein:increased expression:liver

NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121

G

interleukin 2

treatment

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 4

NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

inversin

NCBI chr 1:241,897,685...242,058,293
Ensembl chr 1:241,897,764...242,059,050

G

KN motif and ankyrin repeat domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,078,245

G

lysine methyltransferase 2B

mRNA:decreased expression:liver (mouse)

NCBI chr 6:45,146,863...45,166,854
Ensembl chr 6:45,147,566...45,166,852

G

lysosomal associated membrane protein 2

in hemizygote mutant male (LAMP2y/-)

NCBI chr X:98,586,718...98,623,939
Ensembl chr X:98,581,992...98,623,940

G

multidrug resistance-associated protein 4

treatment

protein:altered expression:kidney, liver

PMID:15030973 PMID:30223280

RGD:15045612 RGD:2301085

NCBI chr11:64,861,069...64,996,684

G

glutathione S-transferase P-like

treatment

NCBI chr 2:4,978,761...4,982,233

G

lymphocyte antigen 96

CTD Direct Evidence: marker/mechanism

NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697

G

monoamine oxidase B

protein:altered activity:hypothalamus (rat)

NCBI chr X:39,025,973...39,144,389
Ensembl chr X:39,025,970...39,144,345

G

mitogen-activated protein kinase 13

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,880,643...31,889,586
Ensembl chr 7:31,880,638...31,889,455

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031

G

membrane bound O-acyltransferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:15,532,641...15,644,332
Ensembl chr 7:15,532,015...15,643,692

G

microRNA mir-143

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817

G

microRNA mir-185

CTD Direct Evidence: marker/mechanism

NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978

G

microRNA mir-190a

CTD Direct Evidence: marker/mechanism

NCBI chr 1:109,225,385...109,225,466
Ensembl chr 1:109,225,386...109,225,470

G

microRNA mir-218-1

CTD Direct Evidence: marker/mechanism

PMID:22363424 PMID:30125006

NCBI chr 8:15,047,602...15,047,685
Ensembl chr 8:15,047,602...15,047,685

G

microRNA mir-27b

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,079,963...27,080,042
Ensembl chr10:27,079,954...27,080,056

G

microRNA mir-361

CTD Direct Evidence: marker/mechanism

NCBI chr X:68,924,500...68,924,579
Ensembl chr X:68,924,500...68,924,579

G

microRNA mir-99a

CTD Direct Evidence: marker/mechanism

NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567

G

microRNA let-7i

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,252,802...27,252,886
Ensembl chr 5:27,252,787...27,252,894

G

matrix metallopeptidase 2

treatment

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: therapeutic

NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183

G

nuclear transcription factor, X-box binding like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:37,812,378...37,875,582
Ensembl chr 8:37,812,911...37,875,540

G

niban apoptosis regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:126,007,493...126,172,579
Ensembl chr 9:126,007,493...126,172,579

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12612912 PMID:20626112

NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146

G

nitric oxide synthase 3

protein:decreased activity:liver (rat)

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

nephrocystin 4

ClinVar Annotator: match by term: Cholestasis

PMID:15776426 PMID:22550138 PMID:25741868 PMID:28492532 PMID:28700940

NCBI chr 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146

G

N-acetylneuraminate pyruvate lyase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860

G

NAD(P)H quinone dehydrogenase 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:22461449 PMID:28337145

NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590

G

nuclear receptor subfamily 1 group D member 1

NCBI chr12:22,263,549...22,274,131
Ensembl chr12:22,263,657...22,271,643

G

nuclear receptor subfamily 1 group H member 2

CTD Direct Evidence: therapeutic

NCBI chr 6:55,238,536...55,245,457
Ensembl chr 6:55,239,500...55,245,456

G

nuclear receptor subfamily 1 group H member 3

CTD Direct Evidence: therapeutic

NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820

G

nuclear receptor subfamily 1 group H member 4

treatment
severity

mRNA, protein:altered expression:liver (rat)
CTD Direct Evidence: marker/mechanism
mutant FXR-/- mouse
mRNA:altered expression:liver (rat)
mRNA:increased expression:ileum (rat)

PMID:12949728 PMID:22461449 PMID:23178280 PMID:27090119 PMID:29235094 More...

RGD:14701031 RGD:15042872 RGD:15045597 RGD:15045612 RGD:15090804 RGD:15092071

NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604

G

nuclear receptor subfamily 1 group I member 2

disease_progression

NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112

G

nuclear receptor subfamily 1 group I member 3

disease_progression

NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,431

G

ornithine transcarbamylase

protein:decreased activity:liver (rat)

NCBI chr X:34,322,398...34,391,711
Ensembl chr X:34,322,298...34,391,821

G

poly(A) specific ribonuclease subunit PAN2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:21,712,222...21,730,528
Ensembl chr 5:21,712,261...21,727,903

G

platelet derived growth factor subunit B

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

Ensembl chr 5:8,986,462...9,007,435

G

prodynorphin

CTD Direct Evidence: marker/mechanism

NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

protein kinase AMP-activated catalytic subunit alpha 1

treatment

mRNA:altered expression:liver (rat)

NCBI chr16:25,745,902...25,783,524
Ensembl chr16:25,745,324...25,783,707

G

glycogen phosphorylase, muscle associated

mRNA:decreased expression:liver

NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254

G

radixin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097

G

receptor accessory protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:116,845,681...116,886,361
Ensembl chr 2:116,845,571...116,886,358

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

refilin B

CTD Direct Evidence: marker/mechanism

NCBI chr12:47,307,657...47,316,652
Ensembl chr12:47,307,637...47,314,589

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645

G

serpin family A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:115,799,414...115,810,825
Ensembl chr 7:115,802,150...115,810,824

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

solute carrier family 10 member 1

treatment

mRNA:altered expression:liver (rat)

PMID:27090119 PMID:29655695

RGD:15090803 RGD:15090804

NCBI chr 7:93,400,037...93,421,989
Ensembl chr 7:93,397,608...93,421,985

G

solute carrier family 10 member 7

CTD Direct Evidence: marker/mechanism

NCBI chr 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655

G

solute carrier family 16 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:59,748,685...59,861,018
Ensembl chr X:59,748,745...59,861,015

G

solute carrier family 23 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:141,258,318...141,277,555
Ensembl chr 2:141,258,323...141,276,442

G

solute carrier family 23 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:13,848,726...14,012,054
Ensembl chr17:13,848,728...14,011,700

G

solute carrier family 30 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr10:9,527,523...9,545,493

G

solute carrier family 51 member A

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753

G

SLC51 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488

G

solute carrier organic anion transporter family member 1A2

treatment

mRNA:altered expression:liver (rat)

NCBI chr 5:52,020,303...52,133,132
Ensembl chr 5:52,049,443...52,129,730

G

solute carrier organic anion transporter family member 1B2

mRNA, protein:increased expression:hepatocyte

NCBI chr 5:52,137,454...52,206,236

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655

G

sortilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:110,721,110...110,791,406
Ensembl chr 4:110,720,947...110,789,070

G

serine peptidase inhibitor, Kunitz type 1

mRNA:increased expression:liver:

NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783

G

serine peptidase inhibitor, Kunitz type 2

mRNA:increased expression:liver:

NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559

G

signal recognition particle 72

CTD Direct Evidence: marker/mechanism

NCBI chr 8:55,729,202...55,762,298
Ensembl chr 8:55,729,116...55,762,015

G

sulfotransferase family 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443

G

TIMP metallopeptidase inhibitor 1

NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296

G

tight junction protein 1

protein:increased expression:liver

NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,370...145,195,836

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

transmembrane p24 trafficking protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr 2:119,794,608...119,804,406
Ensembl chr 2:119,788,483...119,804,463

G

transmembrane protein 117

CTD Direct Evidence: marker/mechanism

NCBI chr 5:74,917,081...75,402,839
Ensembl chr 5:74,917,463...75,406,367

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

ubiquitin like modifier activating enzyme 5

CTD Direct Evidence: marker/mechanism

NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423

G

ubiquitin specific peptidase 53

ClinVar Annotator: match by term: Cholestasis

PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 PMID:34608165

NCBI chr 8:104,500,204...104,560,711
Ensembl chr 8:104,500,252...104,560,513

G

UTP4 small subunit processome component

North American Indian childhood cirrhosis, OMIM:604901, R565W

NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,132

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222

G

villin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:120,463,470...120,494,772
Ensembl chr15:120,463,566...120,492,580

G

VPS33B late endosome and lysosome associated

ARC syndrome, OMIM:208085

NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716

G

WD repeat domain, phosphoinositide interacting 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,715,332...11,752,009
Ensembl chr12:11,715,318...11,752,021

G

xanthine dehydrogenase

protein:alternative form:liver

NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169

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

NCBI chr 9:93,171,371...93,262,124

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 1:28,566,279...28,760,471
Ensembl chr 1:28,566,397...28,760,467

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:10,361,403...10,415,502

G

transmembrane protein 67

DNA:missense mutations: :multiple
CTD Direct Evidence: marker/mechanism

PMID:19058225 PMID:19574260

RGD:11535944 RGD:11535946

NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121

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 chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,196

G

RPGRIP1 like

ClinVar Annotator: match by term: COACH syndrome 1

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

NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190

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 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121

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 chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,334...10,898,196

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 chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190

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

NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200

G

fascin actin-bundling protein 1

mRNA, protein:increased expression: :

NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,177...4,143,286

G

mesothelin

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

NCBI chr 3:41,025,892...41,029,302

G

methylthioadenosine phosphorylase

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

NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,956...200,934,445

G

mucin 1, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr 4:94,626,317...94,631,194

G

mucin 4, cell surface associated

protein:increased expression:pancreas

NCBI chr13:134,192,412...134,248,435

G

mucin 5AC, oligomeric mucus/gel-forming

protein:altered expression:pancreas

NCBI chr 2:757,897...790,321

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 chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,531,726

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 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496

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

PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 More...

NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386

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

PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 More...

NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,531,726

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

PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 More...

NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496

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

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

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

NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289

G

solute carrier family 45 member 2

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

PMID:25741868 PMID:28492532

NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289

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

PMID:25168382 PMID:25741868 PMID:28492532

NCBI chr 4:122,847,925...122,929,454
Ensembl chr 4:122,847,927...122,953,257

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 chr13:40,220,952...40,255,967
Ensembl chr13:40,223,010...40,255,967

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

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

polybromo 1

disease_progression

NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952

G

Rac family small GTPase 1

protein:increased expression:mucosa (human)

NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543

G

solute carrier family 7 member 5

disease_progression

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

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 chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085

G

exportin 1

disease_progression

protein:increased expression:extrahepatic bile duct (human)

NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,146...80,300,327

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)

NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691

G

CD68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363

G

corticotropin releasing hormone

protein:decreased expression:hypothalamus (rat)

NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121

G

cytoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr12:4,977,245...4,988,283

G

cytochrome P450 family 27 subfamily A member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192

G

cytochrome P450 family 7 subfamily A member 1

treatment

mRNA:decreased expression:liver (rat)
mRNA:decreased expression:liver, nucleus (rat)

PMID:28660384 PMID:29360226

RGD:14995480 RGD:21203516

NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,343,123...74,372,621

G

cytochrome P450 family 8 subfamily B member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,233...26,331,738

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554

G

gap junction protein beta 1

mRNA,protein:decreased expression:liver:

NCBI chr X:57,241,990...57,249,496
Ensembl chr X:57,242,045...57,249,885

G

gap junction protein beta 2

NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:7,195,556...7,321,071

G

HNF1 homeobox A

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

NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636

G

kelch like ECH associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382

G

galectin 1

mRNA:increased expression:liver (rat)

NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,068...10,156,023

G

multidrug resistance-associated protein 4

treatment

mRNA:increased expression:liver (rat)

NCBI chr11:64,861,069...64,996,684

G

interleukin-1 beta-like

CTD Direct Evidence: marker/mechanism

G

hydroxymethylglutaryl-CoA synthase, mitochondrial-like

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

NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405

G

mitogen-activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567

G

mitogen-activated protein kinase 8

CTD Direct Evidence: marker/mechanism

NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874

G

mitogen-activated protein kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 2:78,338,466...78,399,108
Ensembl chr 2:78,338,376...78,399,100

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:30026087 PMID:31900718

NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

nuclear receptor subfamily 1 group H member 4

disease_progression
treatment

human gene in mouse model
protein:increased expression:liver (rat)
mRNA:increased expression:liver (rat)

PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226

RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205

NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604

G

opioid receptor mu 1

mRNA:decreased expression:hypothalamus, hippocampus

NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443

G

platelet derived growth factor receptor beta

treatment

NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647

G

pleiotrophin

mRNA:increased expression:liver (rat)

NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

SET domain containing 7, histone lysine methyltransferase

treatment

NCBI chr 8:87,478,266...87,527,190
Ensembl chr 8:87,478,173...87,527,188

G

solute carrier family 22 member 1

protein:decreased expression:kidney

NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520

G

solute carrier family 22 member 2

protein:increased expression:kidney

NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087 PMID:31932644

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

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 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983

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)

NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877

G

glutamate dehydrogenase 1

protein:increased expression:serum

NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520

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

PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More...

NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793

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:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333

hereditary spherocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 1

severity

DNA:deletion mutation:exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant

PMID:14671619 PMID:25741868 PMID:28492532

NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,751,609...10,985,191

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,955,997

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031

G

glucose-6-phosphate isomerase

ClinVar Annotator: match by term: Hereditary spherocytosis

NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:44,038,357...44,069,328

G

KLF transcription factor 1

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

NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517

G

olfactory receptor 10Z1

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614

G

solute carrier family 4 member 1

ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant

PMID:25741868 PMID:28492532 PMID:36231035

NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208

G

spectrin alpha, erythrocytic 1

ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
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

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

NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063

G

spectrin beta, erythrocytic

ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant

PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899

NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,718...88,954,306

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603

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 3:71,729,882...71,845,761
Ensembl chr 3:71,730,003...71,840,861

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

PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More...

NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,751,609...10,985,191

G

erythrocyte membrane protein band 4.2

OMIM:182900

NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031

G

spectrin alpha, erythrocytic 1

OMIM:182900

NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063

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 7:88,764,476...88,810,996
Ensembl chr 7:88,764,471...88,810,994

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 7:88,812,717...88,954,471
Ensembl chr 7:88,812,718...88,954,306

hereditary spherocytosis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

olfactory receptor 10Z1

ClinVar Annotator: match by term: Hereditary spherocytosis type 3

NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614

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

PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More...

NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063

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

ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4

PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More...

NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208

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

PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More...

NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031

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

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 chr13:127,714,857...127,730,628
Ensembl chr13:127,712,777...127,730,657

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 chr13:127,808,599...127,831,081
Ensembl chr13:127,808,599...127,830,717

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 chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

AT-rich interaction domain 1A

disease_progression
exacerbates

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

PMID:27433094 PMID:30849962 PMID:31665232

RGD:126775257 RGD:126781775 RGD:14974231

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

BRCA1 associated deubiquitinase 1

disease_progression

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

beclin 1

disease_progression

NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373

G

B-Raf proto-oncogene, serine/threonine kinase

severity

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

Fas cell surface death receptor

disease_progression

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fas ligand

severity

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

forkhead box P3

DNA:hypomethylation:liver

NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968

G

heat shock protein 90 alpha family class A member 1

disease_progression

protein:increased expression:liver (human)

G

heat shock protein 90 alpha family class B member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr 7:39,237,299...39,250,479
Ensembl chr 7:39,244,458...39,250,481

G

isocitrate dehydrogenase (NADP(+)) 1

no_association

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

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

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

PMID:22824796 PMID:32463951

RGD:149735894 RGD:14985256

NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

lysine demethylase 5C

exacerbates

protein:decreased expression:bile duct (human)

NCBI chr X:45,968,812...46,003,215
Ensembl chr X:45,968,814...46,003,215

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations::

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

lipocalin 2

treatment

Protein:increased expression:bile duct

NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644

G

LDL receptor related protein 1B

exacerbates

DNA:mutations:multiple: (human)

NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,238...11,499,530

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr13:46,896,515...47,568,140
Ensembl chr13:46,897,903...47,567,717

G

microRNA mir-152

miRNA:decreased expression:intrahepatic bile duct

NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336

G

microRNA mir-21

RNA:increased expression:liver,plasma

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

G

microRNA mir-221

severity

NCBI chr X:40,571,068...40,571,137
Ensembl chr X:40,571,068...40,571,137

G

polybromo 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

PMID:27864835 PMID:30377796

RGD:150340628 RGD:152998946

NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952

G

phosphatase and tensin homolog

disease_progression

protein:decreased expression:liver (human)

NCBI chr14:99,929,590...100,021,619

G

ring finger protein 43

exacerbates

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

NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378

G

RUNX family transcription factor 1

mRNA:increased expression:intrahepatic bile duct

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

S100 calcium binding protein B

disease_progression

protein:increased expression:intrahepatic bile duct (human)

G

SMAD family member 4

disease_progression

mRNA,protein:decreased expression:intrahepatic bile duct

PMID:16917866 PMID:23981608

RGD:18936999 RGD:21066336

NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029

G

telomerase associated protein 1

mRNA:increased expression:hepatocyte,biliary epithelium.

NCBI chr 7:78,488,248...78,530,185
Ensembl chr 7:78,491,053...78,530,183

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

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

NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403

G

ATP binding cassette subfamily B member 4

treatment

ClinVar Annotator: match by term: Progressive intrahepatic cholestasis

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

NCBI chr 9:93,171,371...93,262,124

G

adaptor related protein complex 1 subunit sigma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566

G

ATPase phospholipid transporting 8B1

susceptibility

DNA:mutation
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis

PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 More...

NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612

G

chemokine (C-X-C motif) ligand 2

mRNA:increased expression:liver

NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

cytochrome P450 family 2 subfamily E member 1

NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817

G

early growth response 1

CTD Direct Evidence: marker/mechanism

PMID:18364083 PMID:22094456

NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296

G

ectonucleoside triphosphate diphosphohydrolase 1

protein:decreased activity,altered location:liver:

NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010

G

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

CBAS1, OMIM:607765

NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386

G

MAF bZIP transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,782...8,485,030

G

MAF bZIP transcription factor G

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,069,074...1,078,081
Ensembl chr12:1,071,632...1,074,688

G

microRNA mir-27a

mRNA:increased expression:liver (mouse)

NCBI chr 2:65,308,294...65,308,375
Ensembl chr 2:65,308,294...65,308,375

G

nuclear receptor subfamily 0 group B member 2

mRNA, protein:increased expression:liver

NCBI chr 6:84,225,670...84,228,156
Ensembl chr 6:84,225,694...84,228,481

G

nuclear receptor subfamily 1 group H member 4

NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604

G

solute carrier family 22 member 1

mRNA, protein:decreased expression:liver

NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520

G

solute carrier family 22 member 2

mRNA, protein:decreased expression:kidney

NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146

G

tight junction protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983

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 9:93,171,371...93,262,124

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612

G

histone deacetylase 3

severity

NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399

G

interleukin 18

severity

NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222

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 chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612

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 chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403

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 9:93,171,371...93,262,124

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 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149

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 chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

AT-rich interaction domain 1A

disease_progression

DNA:deletions

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

GATA binding protein 6

sexual_dimorphism

DNA:mutations

NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626

G

lysine methyltransferase 2C

onset

DNA:mutations

NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044

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 9:73,074,878...73,215,833
Ensembl chr 9:73,074,906...73,217,053

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 chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,132

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 9:93,171,371...93,262,124

G

adrenomedullin

protein:increased expression:plasma:

NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866

G

albumin

NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

G

chemokine (C-C motif) ligand 2

treatment

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

CD14 molecule

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

NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581

G

complement factor H

protein:decreased expression:plasma:

G

glutamic--pyruvic transaminase

NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056

G

hydroxymethylbilane synthase

Protein:increased activity:liver (rat)

NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868

G

high mobility group box 1

protein:increased expression:liver, plasma

NCBI chr11:7,195,556...7,321,071

G

interferon regulatory factor 5

mRNA,protein:increased expression:liver,nucleus:

NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243

G

lipopolysaccharide binding protein

mRNA:increased expression:liver

NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,398,791...41,429,551

G

proliferating cell nuclear antigen

treatment

NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744

G

toll like receptor 2

treatment

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

uncoupling protein 2

NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547

Osteootohepatoenteric 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: Osteootohepatoenteric syndrome

PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086

NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960

periampullary adenoma

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: Periampullary adenoma

PMID:25741868 PMID:27087319 PMID:28492532 PMID:32860008

NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

primary biliary cholangitis

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:increased expression:liver (human)

NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492

G

ATP binding cassette subfamily B member 4

treatment
disease_progression

CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)

PMID:18671305 PMID:20040336 PMID:21209952 PMID:30682444

RGD:14694982 RGD:153297773

NCBI chr 9:93,171,371...93,262,124

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver

PMID:15542527 PMID:15770136

NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898

G

ATP binding cassette subfamily G member 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393

G

angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

mRNA:increased expression:liver

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

angiotensin converting enzyme 2

mRNA, protein:increased expression:liver

NCBI chr X:12,099,849...12,152,204
Ensembl chr X:12,093,242...12,151,286

G

angiotensinogen

protein:increased expression:plasma

NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

G

aquaporin 4

NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109

G

carbonic anhydrase 1

NCBI chr 4:51,343,548...51,353,127
Ensembl chr 4:51,302,406...51,353,126

G

carbonic anhydrase 2

NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259

G

C-C motif chemokine ligand 5

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:

PMID:12126966 PMID:15770052

NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118

G

cellular communication network factor 2

mRNA:increased expression:liver (rat)

NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691

G

CD14 molecule

disease_progression

protein:increased expression:liver (human)

NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581

G

CD3 delta subunit of T-cell receptor complex

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221