biliary tract disease - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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:	biliary tract disease	go back to main search page
Accession:	DOID:9741	browse the term
Definition:	A hepatobiliary disease that is located_in the biliary tract. (DO)
Synonyms:	exact_synonym:	biliary tract diseases
	primary_id:	MESH:D001660
	xref:	EFO:0009534; ICD10CM:K83.9; ICD9CM:576.9

show annotations for term's descendants Sort by:
Rat (550) Mouse (549) Human (5597) Chinchilla (469) Bonobo (506) Dog (519) Squirrel (474) Pig (511) Green Monkey (498) Naked Mole-rat (468) All
Genes (519)

biliary tract disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

protein:increased expression:bile

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

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 3:53,294,628...53,307,759
Ensembl chr 3:53,295,197...53,309,067

adenosquamous gallbladder carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

disease_progression

NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

interferon-induced transmembrane protein 1

disease_progression

NCBI chr18:25,494,018...25,495,114

Alagille syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and EF-hand domain containing 1

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:28492532 PMID:32733715

NCBI chr24:12,224,624...12,259,274
Ensembl chr24:12,235,458...12,253,587

G

hydroxyacid oxidase 1

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:28492532 PMID:32733715

NCBI chr24:14,204,543...14,252,873
Ensembl chr24:14,204,617...14,252,191

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 chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199

G

lysosomal associated membrane protein family member 5

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:28492532 PMID:32733715

NCBI chr24:12,678,209...12,693,847
Ensembl chr24:12,678,837...12,694,284

G

MKKS centrosomal shuttling protein

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...

NCBI chr24:11,887,504...11,914,055
Ensembl chr24:11,898,236...11,913,740

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 chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

p21 (RAC1) activated kinase 5

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:28492532 PMID:32733715

NCBI chr24:12,391,739...12,671,483
Ensembl chr24:12,391,471...12,669,404

G

phospholipase C beta 1

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:28492532 PMID:32733715

NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539

G

phospholipase C beta 4

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:28492532 PMID:32733715

NCBI chr24:12,750,631...13,169,697
Ensembl chr24:12,752,083...13,169,745

G

SLX4 interacting protein

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...

NCBI chr24:11,702,955...11,886,664
Ensembl chr24:11,706,776...11,772,030

G

synaptosome associated protein 25

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...

NCBI chr24:12,003,005...12,081,385
Ensembl chr24:12,004,117...12,081,329

G

thioredoxin related transmembrane protein 4

ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

PMID:28492532 PMID:32733715

NCBI chr24:14,113,495...14,176,081
Ensembl chr24:14,132,455...14,207,428

ALAGILLE SYNDROME 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and EF-hand domain containing 1

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:28492532 PMID:32733715

NCBI chr24:12,224,624...12,259,274
Ensembl chr24:12,235,458...12,253,587

G

hydroxyacid oxidase 1

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:28492532 PMID:32733715

NCBI chr24:14,204,543...14,252,873
Ensembl chr24:14,204,617...14,252,191

G

jagged canonical Notch ligand 1

ClinVar Annotator: match by term: Alagille syndrome 1

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

NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199

G

lysosomal associated membrane protein family member 5

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:28492532 PMID:32733715

NCBI chr24:12,678,209...12,693,847
Ensembl chr24:12,678,837...12,694,284

G

MKKS centrosomal shuttling protein

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...

NCBI chr24:11,887,504...11,914,055
Ensembl chr24:11,898,236...11,913,740

G

p21 (RAC1) activated kinase 5

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:28492532 PMID:32733715

NCBI chr24:12,391,739...12,671,483
Ensembl chr24:12,391,471...12,669,404

G

phospholipase C beta 1

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:28492532 PMID:32733715

NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539

G

phospholipase C beta 4

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:28492532 PMID:32733715

NCBI chr24:12,750,631...13,169,697
Ensembl chr24:12,752,083...13,169,745

G

SLX4 interacting protein

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...

NCBI chr24:11,702,955...11,886,664
Ensembl chr24:11,706,776...11,772,030

G

synaptosome associated protein 25

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...

NCBI chr24:12,003,005...12,081,385
Ensembl chr24:12,004,117...12,081,329

G

thioredoxin related transmembrane protein 4

ClinVar Annotator: match by term: Alagille syndrome 1

PMID:28492532 PMID:32733715

NCBI chr24:14,113,495...14,176,081
Ensembl chr24:14,132,455...14,207,428

ALAGILLE SYNDROME 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 2

ClinVar Annotator: match by term: Alagille syndrome 2

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

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

ARC syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404

NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507

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 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732

arthrogryposis, renal dysfunction, and cholestasis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

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

NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151

G

potassium voltage-gated channel subfamily H member 2

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

PMID:25741868 PMID:26715165 PMID:28492532

NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504

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 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507

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 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732

arthrogryposis, renal dysfunction, and cholestasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

PMID:20190753 PMID:25741868 PMID:25741916 PMID:28492532 PMID:31479177

NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507

benign recurrent intrahepatic cholestasis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: Summerskill syndrome

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

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

benign recurrent intrahepatic cholestasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

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

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

NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

bile duct adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

bile duct adenoma

term browser

Symbol

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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

bile duct cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein B

susceptibility

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

NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

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 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

microRNA mir-31

exacerbates

RNA:increased expression:bile duct (human)

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

mutL homolog 1

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

mutS homolog 2

ClinVar Annotator: match by term: Bile duct cancer

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

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 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:28492532

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

tight junction protein 1

protein:decreased expression:bile duct

NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574

bile duct carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesothelin

protein:increased expression:bile duct

NCBI chr 6:39,827,985...39,834,945

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

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 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607

G

ferrochelatase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092

G

melanoma-associated antigen 10-like

CTD Direct Evidence: marker/mechanism

NCBI chr X:117,717,968...117,724,242

Bile Duct Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aspartate beta-hydroxylase

mRNA:increased expression:bile duct

NCBI chr29:11,812,275...12,022,755
Ensembl chr29:11,814,554...12,022,680

G

epidermal growth factor receptor

CTD Direct Evidence: therapeutic

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile duct

NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808

G

interleukin 6

disease_progression

protein:increased expression:serum

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:intrahepatic bile duct (human)

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

O-6-methylguanine-DNA methyltransferase

severity

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

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

marker of proliferation Ki-67

disease_progression

NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486

G

mucin 16, cell surface associated

protein:increased expression:serum,bile

NCBI chr20:51,790,036...51,876,801

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802

G

neural cell adhesion molecule 1

disease_progression

PMID:8501910 PMID:9851639

RGD:2326076 RGD:2326077

NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

biliary atresia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

B9 domain containing 2

treatment

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

CD14 molecule

disease_progression

mRNA, protein:increased expression:liver, plasma:

NCBI chr 2:35,790,505...35,792,967

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

delta like non-canonical Notch ligand 1

NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761

G

gamma-glutamyltransferase 1

disease_progression

NCBI chr26:28,301,455...28,315,029

G

GLI family zinc finger 2

disease_progression

NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658

G

hepcidin antimicrobial peptide

CTD Direct Evidence: marker/mechanism

NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619

G

intercellular adhesion molecule 1

susceptibility

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

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interleukin 18

susceptibility

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

PMID:10726686 PMID:30059753

RGD:14695528 RGD:14695529

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

microRNA mir-145

miRNA:decreased expression:liver (human)

NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210

G

microRNA mir-155

miRNA:increased expression:liver

PMID:27817193 PMID:28355202

RGD:24922206 RGD:25671379

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

phosphatase and tensin homolog

mRNA:decreased expression:liver (human)

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

sonic hedgehog signaling molecule

disease_progression

NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903

G

SRY-box transcription factor 17

NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124

G

serine peptidase inhibitor, Kunitz type 1

disease_progression

mRNA,protein:increased expression:liver:

NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339

G

serine peptidase inhibitor, Kunitz type 2

mRNA,protein:increased expression:liver:

NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763

G

secreted phosphoprotein 1

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

biliary tract benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

disease_progression

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

CTP synthase 1

mRNA:increased expression:biliary tract neoplasm (human)

NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014

G

E74 like ETS transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:959,408...965,533
Ensembl chr 7:859,585...963,788

G

Fas ligand

protein:decreased expression:serum
associated with Biliary Tract Disease;protein:decreased expression:serum

PMID:15138553 PMID:15287856

RGD:2317742 RGD:2317743

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

hepatocyte growth factor

mRNA:increased expression: :

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

interleukin 4

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

MDM2 proto-oncogene

protein:increased expression:biliary epithelium (human)

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

methylthioadenosine phosphorylase

NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504

G

mucin 1, cell surface associated

NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

mucin 4, cell surface associated

protein:increased expression:bile,biliary tract

NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802

G

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

protein:increased expression:serum

NCBI chr18:45,471,232...45,498,961

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:63,615,445...63,729,386
Ensembl chr 6:63,618,323...63,730,146

BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

intraflagellar transport 56

ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome

PMID:25741868 PMID:25741913 PMID:31595528 PMID:32617964 PMID:34177428

NCBI chr16:9,528,236...9,581,089
Ensembl chr16:9,530,445...9,580,839

Caroli disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 2

protein:increased expression:bile duct (rat)

NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701

G

intraflagellar transport 56

ClinVar Annotator: match by term: Caroli disease

PMID:25741913 PMID:31595528 PMID:32617964

NCBI chr16:9,528,236...9,581,089
Ensembl chr16:9,530,445...9,580,839

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 chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141

G

WD repeat domain 19

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

NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512

Caroli syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141

cholangiocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

susceptibility

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

NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

adrenoceptor beta 2

protein:decreased expression:liver

NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298

G

albumin

disease_progression

PMID:10776430 PMID:17545000 PMID:20431764

RGD:2325679 RGD:2325680 RGD:2325682

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

arachidonate 5-lipoxygenase

protein:increased expression:bile duct

NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609

G

annexin A2

disease_progression

NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281

G

APC regulator of WNT signaling pathway

DNA:loss of heterozygosity
DNA:hypermethylation:promoter

PMID:10212000 PMID:15467712

RGD:2317198 RGD:2317205

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

apolipoprotein A1

protein:decreased expression:serum

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

aspartate beta-hydroxylase

NCBI chr29:11,812,275...12,022,755
Ensembl chr29:11,814,554...12,022,680

G

autophagy related 101

disease_progression

NCBI chr27:2,931,595...2,934,914
Ensembl chr27:2,931,893...2,935,123

G

B9 domain containing 2

disease_progression

protein:increased expression:pancreas

PMID:12632524 PMID:16083599

RGD:1299231 RGD:2325020

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

BRCA1 associated protein 1

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:25231345

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

baculoviral IAP repeat containing 6

ameliorates

mRNA:increased expression:bile duct (human)

NCBI chr17:25,618,262...25,847,920
Ensembl chr17:25,617,892...25,847,202

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

cyclin dependent kinase inhibitor 2A

onset

protein:decreased expression:liver

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

C-X-C motif chemokine ligand 8

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

cytochrome c, somatic

NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983

G

cytochrome P450 family 24 subfamily A member 1

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

NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216

G

epidermal growth factor

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:28492532

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

erythropoietin

mRNA, protein:increased expression:liver

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

erythropoietin receptor

mRNA, protein:increased expression:liver

NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

no_association
disease_progression

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

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

Fas ligand

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

fibroblast growth factor 2

protein:increased expression:bile

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile ducts

NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808

G

GNAS complex locus

disease_progression

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

PMID:17356712 PMID:22561520

NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657

G

glutathione S-transferase pi 1

treatment

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

PMID:12805482 PMID:15467712

RGD:14401711 RGD:2317198

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

histone deacetylase 6

protein:increased expression:liver:

NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427

G

hepatocyte growth factor

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

PMID:10827151 PMID:16974053

RGD:2317909 RGD:2317925

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

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 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

interleukin 10

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 19

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532

NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870

G

interleukin 1 beta

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor type 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113

G

interleukin 4 receptor

mRNA:increased expression:bile duct

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

interleukin 6

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

insulin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122

G

potassium voltage-gated channel subfamily D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:58,441,274...58,915,512

G

KIT proto-oncogene, receptor tyrosine kinase

disease_progression

mRNA:altered expression:liver (human)

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:8968066 PMID:22561520

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

keratin 7

NCBI chr27:2,812,709...2,827,451

G

mucin-6

protein:increased expression: :

NCBI chr18:45,359,412...45,376,678

G

peptidylprolyl isomerase A (cyclophilin A) pseudogene

ameliorates

human cell line and construct in a mouse model

NCBI chr 7:80,937,433...80,938,175

G

mesothelin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:39,827,985...39,834,945

G

MDM2 proto-oncogene

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

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

PMID:14656942 PMID:16818635

RGD:2317578 RGD:2317601

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

major facilitator superfamily domain containing 4A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr38:2,037,365...2,066,822
Ensembl chr38:2,037,026...2,064,696

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

microRNA mir-155

miRNA:increased expression:serum

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

microRNA mir-192

RNA:increased expression:urine

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

G

microRNA mir-21

RNA:increased expression:urine

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-23b

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,678,353...71,678,406
Ensembl chr 1:71,678,346...71,678,416

G

microRNA mir-494

exacerbates
severity

NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465

G

marker of proliferation Ki-67

disease_progression

NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:bile duct

PMID:15213623 PMID:19629755

RGD:2324667 RGD:2325769

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

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

PMID:15213623 PMID:16463672

RGD:2324667 RGD:2325856

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

mucin 1, cell surface associated

disease_progression

protein:increased expression:serum
protein:increased secretion:bile
mRNA:increased expression:bile duct
protein: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 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

mucin 16, cell surface associated

associated with Opisthorchiasis;protein:increased expression:serum

NCBI chr20:51,790,036...51,876,801

G

mucin 2, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr18:45,416,347...45,438,226

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

PMID:14752841 PMID:19082442

RGD:2303602 RGD:2324944

NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802

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 chr18:45,471,232...45,498,961

G

mucin 5B, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr18:45,517,479...45,545,765
Ensembl chr18:45,517,474...45,545,184

G

neural cell adhesion molecule 1

associated with hepatitis

NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995

G

nitric oxide synthase 2

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

PMID:16094703 PMID:16818635

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

notch receptor 1

protein:increased expression:cholangiocyte

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

nuclear receptor subfamily 1 group H member 4

disease_progression

mRNA:decreased expression:liver (rat)

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

G

8-oxoguanine DNA glycosylase

disease_progression

DNA:loss of heterozygosity (human)

PMID:11260864 PMID:11866974

RGD:2317134 RGD:2317136

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

oxysterol binding protein 2

mRNA:increased expression:blood

NCBI chr26:23,742,191...23,938,021
Ensembl chr26:23,739,648...23,936,562

G

oxysterol binding protein like 7

mRNA:increased expression:blood

NCBI chr 9:24,139,641...24,156,692
Ensembl chr 9:24,139,630...24,154,924

G

pannexin 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr10:17,052,972...17,059,756
Ensembl chr10:17,052,956...17,055,880

G

pro-apoptotic WT1 regulator

mRNA,protein:decreased expression:cholangiocyte:

NCBI chr15:22,114,014...22,159,287

G

polybromo 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203

G

paternally expressed 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:101,091,161...101,123,552
Ensembl chr 1:101,098,669...101,121,032

G

pescadillo ribosomal biogenesis factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:23,655,994...23,672,707
Ensembl chr26:23,656,404...23,672,641

G

pirin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr X:11,627,337...11,733,489
Ensembl chr X:11,627,337...11,733,489

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579

G

protein phosphatase 3 catalytic subunit alpha

disease_progression

mRNA:altered expression:liver (human)

NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr20:48,416,730...48,425,237
Ensembl chr20:48,409,045...48,426,669

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:63,615,445...63,729,386
Ensembl chr 6:63,618,323...63,730,146

G

proline rich and Gla domain 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr18:34,755,824...34,772,516
Ensembl chr18:34,756,080...34,772,917

G

serine protease 56

disease_progression

mRNA:altered expression:liver (human)

NCBI chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

PMID:23376645 PMID:27022031

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin-endoperoxide synthase 2

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

Ras association domain family member 8

disease_progression

mRNA:altered expression:liver (human)

NCBI chr27:21,512,110...21,569,475
Ensembl chr27:21,515,795...21,535,929

G

ring finger protein 39

disease_progression

mRNA:altered expression:liver (human)

NCBI chr35:26,292,218...26,296,980
Ensembl chr35:26,292,781...26,297,083

G

ring finger protein 43

exacerbates

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

NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313

G

roundabout guidance receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392

G

RUNX family transcription factor 3

protein:decreased expression:bile duct

G

solute carrier family 4 member 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr13:60,375,215...60,670,664
Ensembl chr13:60,328,136...60,666,728

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209

G

solute carrier family 7 member 5

treatment
disease_progression

PMID:24131658 PMID:25475870 PMID:28347255

RGD:151361214 RGD:151361287 RGD:151361294

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

SMAD family member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

suppressor of cytokine signaling 3

severity

protein:decreased expression:bile duct (human)

NCBI chr 9:2,859,267...2,859,944

G

SRY-box transcription factor 17

severity

NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124

G

SRY-box transcription factor 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr34:14,853,000...14,855,153

G

transforming growth factor beta receptor 2

mRNA:increased expression:bile duct

NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636

G

thrombospondin 1

disease_progression

DNA:hypermethylation (human)

PMID:11927969 PMID:12213730 PMID:16465407

RGD:2325024 RGD:2325026 RGD:2325027

NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915

G

tenascin C

severity

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

TNF alpha induced protein 3

severity

protein:increased expression:bile duct (human)

NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:16818635 PMID:22561520

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

transthyretin

protein:decreased expression:blood serum (human)

NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058

G

vascular endothelial growth factor A

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

WD repeat and HMG-box DNA binding protein 1

ameliorates

NCBI chr 8:30,820,488...30,872,515
Ensembl chr 8:30,821,096...30,872,512

G

Wnt family member 9A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr14:946,843...959,289
Ensembl chr14:953,244...959,295

Cholangiofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 ligand

treatment

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

glutathione S-transferase pi 1

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

isocitrate dehydrogenase (NADP(+)) 1

severity

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

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

microRNA mir-192

RNA:increased expression:urine

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

G

microRNA mir-21

RNA:increased expression:urine

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579

G

C-C motif chemokine ligand 2

treatment

NCBI chr 9:39,008,187...39,009,932

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

integrin subunit beta 6

CTD Direct Evidence: marker/mechanism

NCBI chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,240,778...21,245,039

G

mucin 17, cell surface associated

mRNA:increased expression:bile duct

G

NRAS proto-oncogene, GTPase

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

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

toll like receptor 2

disease_progression

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

vitamin D receptor

mRNA,protein:decreased expression:liver

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

protection of telomeres 1

mRNA:decreased expression:gall bladder

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

choledochal cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720

G

CF transmembrane conductance regulator

CTD Direct Evidence: marker/mechanism

NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

PMID:15830394 PMID:18988797

NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141

G

secretin

CTD Direct Evidence: marker/mechanism

G

solute carrier family 4 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617

choledocholithiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,747,319...71,764,570
Ensembl chr 8:71,753,164...71,765,349

cholelithiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,747,319...71,764,570
Ensembl chr 8:71,753,164...71,765,349

G

cholecystokinin A receptor

associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle

NCBI chr 3:84,010,700...84,019,066
Ensembl chr 3:84,010,205...84,021,293

G

CF transmembrane conductance regulator

mRNA, protein:altered expression:liver (human)

NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977

G

cytochrome P450 family 17 subfamily A member 1

associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human)

NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852

G

sterol O-acyltransferase 2

susceptibility

NCBI chr27:2,053,063...2,062,773
Ensembl chr27:2,053,067...2,062,329

G

squalene epoxidase

NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978

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

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

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

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

NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

G

ATP binding cassette subfamily B member 4

DNA:mutations: :

PMID:11680581 PMID:26324191

RGD:11565494 RGD:1598589

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

ATP binding cassette subfamily C member 2

disease_progression
treatment

protein:decreased expression:intestine:
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 chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

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 chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646

G

ATP binding cassette subfamily C member 4

treatment

protein:altered expression:kidney, liver

PMID:15030973 PMID:30223280

RGD:15045612 RGD:2301085

NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505

G

ATP binding cassette subfamily G member 5

NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773

G

ATP binding cassette subfamily G member 8

NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229

G

angiotensin I converting enzyme

mRNA:increased expression:liver (rat)

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

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

NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295

G

alcohol dehydrogenase 5 (class III), chi polypeptide

mRNA, protein:decreased expression:liver

NCBI chr32:21,249,459...21,261,130
Ensembl chr32:21,249,739...21,265,048

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

albumin

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

aldehyde dehydrogenase 1 family member B1

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,566,883...54,579,773
Ensembl chr11:54,577,123...54,578,685

G

aldehyde dehydrogenase 1 family member L1

treatment

NCBI chr20:52,722...99,180
Ensembl chr20:61,349...99,160

G

aldehyde dehydrogenase 8 family member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:27,672,422...27,695,029
Ensembl chr 1:27,673,024...27,694,868

G

apolipoprotein C3

NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992

G

apolipoprotein E

associated with Pancreatic Neoplasms;protein:increased expression:plasma

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

arginase 1

protein:altered activity:liver (rat)

NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305

G

aryl hydrocarbon receptor nuclear translocator like

mRNA:increased expression:cholangiocyte

NCBI chr21:36,254,235...36,323,915
Ensembl chr21:36,290,070...36,323,622

G

branched chain amino acid transaminase 1

CTD Direct Evidence: marker/mechanism

NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959

G

brain expressed X-linked 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:76,473,420...76,474,994

G

biliverdin reductase A

CTD Direct Evidence: marker/mechanism

NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr31:14,079,228...14,117,347
Ensembl chr31:14,079,652...14,095,265

G

chromosome 3 C4orf19 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 3:74,570,092...74,656,732
Ensembl chr 3:74,570,708...74,572,454

G

calcium dependent secretion activator 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:60,109,253...60,465,982
Ensembl chr14:60,107,538...60,556,817

G

catalase

CTD Direct Evidence: marker/mechanism

PMID:21339256 PMID:27989131

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

C-C motif chemokine ligand 7

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483

G

CD14 molecule

NCBI chr 2:35,790,505...35,792,967

G

CD44 molecule

protein:decreased expression:jejunum, ileum

NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107

G

complement factor H related 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:5,723,819...5,752,881
Ensembl chr 7:5,724,129...5,752,816

G

CF transmembrane conductance regulator

mRNA,Protein:increased expression

NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977

G

clock circadian regulator

mRNA:increased expression:cholangiocyte

NCBI chr13:47,684,409...47,825,733
Ensembl chr13:47,691,709...47,758,784

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126

G

collagen type I alpha 1 chain

treatment

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

PMID:21274875 PMID:22094456 PMID:22824087

RGD:8552675 RGD:8552699 RGD:8552776

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

ceruloplasmin

protein:increased expression:serum

NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369

G

C-X-C motif chemokine ligand 10

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

NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135

G

cytochrome P450 family 27 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509

G

cytochrome P450 2B11

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293

G

cytochrome P450, family 3, subfamily A, polypeptide 4

disease_progression

NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352

G

cytochrome P450 family 7 subfamily A member 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:9797378 PMID:22461449 PMID:29655695

NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310

G

cytochrome P450 family 7 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755

G

cytochrome P450 family 8 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846

G

diacylglycerol O-acyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:22,833,659...22,850,300
Ensembl chr21:22,834,518...22,851,260

G

DnaJ heat shock protein family (Hsp40) member B9

CTD Direct Evidence: marker/mechanism

NCBI chr14:48,879,963...48,885,616
Ensembl chr14:48,879,914...48,884,361

G

DnaJ heat shock protein family (Hsp40) member C12

CTD Direct Evidence: marker/mechanism

NCBI chr 4:19,096,656...19,147,722
Ensembl chr 4:19,096,656...19,147,655

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

ClinVar Annotator: match by term: Cholestasis

PMID:25741868 PMID:28492532

NCBI chr34:18,021,047...18,080,993
Ensembl chr34:18,022,353...18,080,903

G

endoglin

protein:increased expression:liver (rat)

NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064

G

endoplasmic reticulum lectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,815,592...54,845,776
Ensembl chr10:54,815,638...54,845,080

G

F2R like thrombin or trypsin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:45,738,587...45,740,564
Ensembl chr20:45,738,587...45,740,473

G

fibrinogen alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975

G

glucose-6-phosphate dehydrogenase

NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678

G

growth hormone receptor

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

NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473

G

glutathione S-transferase pi 1

treatment

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

GTP binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,073,233...12,082,630
Ensembl chr12:12,074,264...12,080,937

G

hydroxyacid oxidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,505,463...56,529,441
Ensembl chr17:56,505,506...56,528,954

G

hemojuvelin BMP co-receptor

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,792,647...58,797,504
Ensembl chr17:58,793,247...58,797,373

G

4-hydroxy-2-oxoglutarate aldolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:10,849,037...10,872,238
Ensembl chr28:10,849,046...10,871,853

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

inhibitor of DNA binding 1

protein:increased expression:liver, nucleus (rat)

NCBI chr24:21,094,339...21,096,276
Ensembl chr24:21,094,755...21,096,276

G

inhibitor of DNA binding 4, HLH protein

CTD Direct Evidence: marker/mechanism

NCBI chr35:18,358,518...18,360,767
Ensembl chr35:18,357,826...18,359,011
Ensembl chr35:18,357,826...18,359,011

G

insulin like growth factor 1

CTD Direct Evidence: therapeutic

PMID:12826230 PMID:18607346

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 1 alpha

protein:increased expression:liver

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 2

treatment

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 4

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

inversin

NCBI chr11:57,040,005...57,196,465
Ensembl chr11:57,040,070...57,195,281

G

KN motif and ankyrin repeat domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:89,446,340...89,618,716
Ensembl chr 1:89,480,399...89,618,143

G

lysine methyltransferase 2B

mRNA:decreased expression:liver (mouse)

NCBI chr 1:116,894,024...116,913,464
Ensembl chr 1:116,893,074...116,913,472

G

lysosomal associated membrane protein 2

in hemizygote mutant male (LAMP2y/-)

NCBI chr X:92,405,946...92,444,527
Ensembl chr X:92,407,950...92,444,765

G

2-hydroxyacyl-CoA lyase 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:27,069,676...27,188,247

G

lymphocyte antigen 96

CTD Direct Evidence: marker/mechanism

NCBI chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117

G

monoamine oxidase B

protein:altered activity:hypothalamus (rat)

NCBI chr X:37,765,810...37,883,955
Ensembl chr X:37,765,813...37,883,955

G

mitogen-activated protein kinase 13

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,239,783...5,248,197
Ensembl chr12:5,239,750...5,248,196

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603

G

membrane bound O-acyltransferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr35:18,721,582...18,837,155
Ensembl chr35:18,713,654...18,836,142

G

microRNA mir-143

CTD Direct Evidence: marker/mechanism

NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594

G

microRNA mir-185

CTD Direct Evidence: marker/mechanism

NCBI chr26:29,296,014...29,296,069
Ensembl chr26:29,296,004...29,296,079

G

microRNA mir-190a

CTD Direct Evidence: marker/mechanism

NCBI chr30:27,433,122...27,433,206
Ensembl chr30:27,433,122...27,433,206

G

microRNA mir-218-1

CTD Direct Evidence: marker/mechanism

PMID:22363424 PMID:30125006

NCBI chr 3:89,044,709...89,044,772
Ensembl chr 3:89,044,699...89,044,782

G

microRNA mir-24-1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,677,608...71,677,669
Ensembl chr 1:71,677,608...71,677,669

G

microRNA mir-27b

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,678,117...71,678,179
Ensembl chr 1:71,678,105...71,678,191

G

microRNA mir-361

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,698,698...66,698,760
Ensembl chr X:66,698,698...66,698,760

G

microRNA mir-377

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,290,937...69,291,005

G

microRNA mir-99a-1

CTD Direct Evidence: marker/mechanism

NCBI chr31:13,258,782...13,258,840
Ensembl chr31:13,258,782...13,258,840

G

matrix metallopeptidase 2

treatment

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: therapeutic

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

nuclear transcription factor, X-box binding like 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:43,743,271...43,814,899
Ensembl chr13:43,744,181...43,814,520

G

niban apoptosis regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:18,021,782...18,234,759
Ensembl chr 7:18,024,578...18,235,236

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12612912 PMID:20626112

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nitric oxide synthase 3

protein:decreased activity:liver (rat)

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

nephrocystin 4

ClinVar Annotator: match by term: Cholestasis

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

NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386

G

N-acetylneuraminate pyruvate lyase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033

G

NAD(P)H quinone dehydrogenase 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:22461449 PMID:28337145

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

nuclear receptor subfamily 1 group D member 1

NCBI chr 9:22,461,556...22,469,243
Ensembl chr 9:22,461,705...22,469,053

G

nuclear receptor subfamily 1 group H member 2

CTD Direct Evidence: therapeutic

NCBI chr 1:106,332,691...106,339,168
Ensembl chr 1:106,332,798...106,339,135

G

nuclear receptor subfamily 1 group H member 3

CTD Direct Evidence: therapeutic

NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236

G

nuclear receptor subfamily 1 group H member 4

treatment
severity

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

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

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

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

G

nuclear receptor subfamily 1 group I member 2

disease_progression

NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347

G

nuclear receptor subfamily 1 group I member 3

disease_progression

NCBI chr38:21,252,874...21,257,951
Ensembl chr38:21,253,089...21,258,827

G

ornithine transcarbamylase

protein:decreased activity:liver (rat)

NCBI chr X:33,130,921...33,200,441
Ensembl chr X:33,131,040...33,199,595

G

poly(A) specific ribonuclease subunit PAN2

CTD Direct Evidence: marker/mechanism

NCBI chr10:621,286...636,899
Ensembl chr10:621,281...634,495

G

platelet derived growth factor subunit B

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

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

prodynorphin

CTD Direct Evidence: marker/mechanism

NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

protein kinase AMP-activated catalytic subunit alpha 1

treatment

mRNA:altered expression:liver (rat)

NCBI chr 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841

G

glycogen phosphorylase, muscle associated

mRNA:decreased expression:liver

NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464

G

radixin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811

G

receptor accessory protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:6,733...25,840
Ensembl chr 3:8,236...25,824

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

refilin B

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,232,910...45,239,569
Ensembl chr 9:45,232,975...45,239,130

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435

G

serpin family A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,567,060...63,577,015
Ensembl chr 8:63,566,356...63,576,308

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

solute carrier family 10 member 1

treatment

mRNA:altered expression:liver (rat)

PMID:27090119 PMID:29655695

RGD:15090803 RGD:15090804

NCBI chr 8:43,521,291...43,546,426
Ensembl chr 8:43,521,747...43,546,274

G

solute carrier family 10 member 7

CTD Direct Evidence: marker/mechanism

NCBI chr15:44,718,085...44,957,787
Ensembl chr15:44,720,629...44,957,495

G

solute carrier family 16 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:57,845,865...57,859,827
Ensembl chr X:57,845,488...57,857,518

G

solute carrier family 23 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:34,694,064...34,708,498
Ensembl chr 2:34,698,838...34,708,412

G

solute carrier family 23 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr24:16,573,616...16,709,296
Ensembl chr24:16,574,168...16,709,296

G

solute carrier family 30 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540

G

solute carrier family 51 member A

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738

G

SLC51 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr30:29,425,489...29,436,204
Ensembl chr30:29,425,860...29,436,073

G

solute carrier organic anion transporter family member 1A2

treatment

mRNA:altered expression:liver (rat)

NCBI chr27:26,279,654...26,398,000
Ensembl chr27:26,279,547...26,425,818

G

solute carrier organic anion transporter family member 1B2

mRNA, protein:increased expression:hepatocyte

NCBI chr27:26,411,008...26,496,174
Ensembl chr27:26,411,010...26,470,989

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:12,493,750...12,650,530
Ensembl chr 5:12,431,377...12,650,784

G

sortilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:42,454,091...42,521,251
Ensembl chr 6:42,453,942...42,516,740

G

serine peptidase inhibitor, Kunitz type 1

mRNA:increased expression:liver:

NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339

G

serine peptidase inhibitor, Kunitz type 2

mRNA:increased expression:liver:

NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763

G

signal recognition particle 72

CTD Direct Evidence: marker/mechanism

NCBI chr13:48,688,295...48,717,826
Ensembl chr13:48,688,295...48,717,824

G

sulfotransferase family 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:107,705,568...107,721,160
Ensembl chr 1:107,705,576...107,720,876

G

TIMP metallopeptidase inhibitor 1

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

tight junction protein 1

protein:increased expression:liver

NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

transmembrane p24 trafficking protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr11:5,342,265...5,356,828
Ensembl chr11:5,342,265...5,356,828

G

transmembrane protein 117

CTD Direct Evidence: marker/mechanism

NCBI chr27:9,782,805...10,246,635
Ensembl chr27:9,782,805...10,235,028

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

ubiquitin like modifier activating enzyme 5

CTD Direct Evidence: marker/mechanism

NCBI chr23:29,645,755...29,658,587
Ensembl chr23:29,645,966...29,659,019

G

ubiquitin specific peptidase 53

ClinVar Annotator: match by term: Cholestasis

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

NCBI chr32:38,148,120...38,213,370
Ensembl chr32:38,163,790...38,211,181

G

UTP4 small subunit processome component

North American Indian childhood cirrhosis, OMIM:604901, R565W

NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933

G

villin 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705

G

VPS33B late endosome and lysosome associated

ARC syndrome, OMIM:208085

NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732

G

WD repeat domain, phosphoinositide interacting 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:15,115,098...15,147,893
Ensembl chr 9:15,115,315...15,149,147

G

xanthine dehydrogenase

protein:alternative form:liver

NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

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 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351

G

OFD1 centriole and centriolar satellite protein

ClinVar Annotator: match by term: COACH syndrome

PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532

NCBI chr X:10,140,439...10,194,478
Ensembl chr X:10,140,067...10,194,472

G

transmembrane protein 67

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

PMID:19058225 PMID:19574260

RGD:11535944 RGD:11535946

NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559

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 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547

G

RPGRIP1 like

ClinVar Annotator: match by term: COACH syndrome 1

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

NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284

G

transmembrane protein 67

ClinVar Annotator: match by term: COACH syndrome 1

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

NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559

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 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547

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:17558407 PMID:17558409 PMID:17960139 PMID:18565097 PMID:19430481 More...

NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284

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 chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135

G

fascin actin-bundling protein 1

mRNA, protein:increased expression: :

NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808

G

mesothelin

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

NCBI chr 6:39,827,985...39,834,945

G

methylthioadenosine phosphorylase

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

NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504

G

mucin 1, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

mucin 4, cell surface associated

protein:increased expression:pancreas

NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802

G

mucin 5AC, oligomeric mucus/gel-forming

protein:altered expression:pancreas

NCBI chr18:45,471,232...45,498,961

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 chr16:1,499,251...1,583,965

G

cytochrome P450 family 7 subfamily B member 1

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

PMID:25741868 PMID:28492532

NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755

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: 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 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114

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 chr16:1,499,251...1,583,965

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 chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755

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 chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437

G

solute carrier family 45 member 2

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

PMID:25741868 PMID:28492532

NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437

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 6:54,740,704...54,816,854
Ensembl chr 6:54,742,111...54,817,235

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 chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734

extrahepatic bile duct adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated protein 1

disease_progression

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

polybromo 1

disease_progression

NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203

G

Rac family small GTPase 1

protein:increased expression:mucosa (human)

NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

extrahepatic bile duct carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385

G

exportin 1

disease_progression

protein:increased expression:extrahepatic bile duct (human)

NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054

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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496

G

ATP binding cassette subfamily C member 4

treatment

mRNA:increased expression:liver (rat)

NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087 PMID:31932644

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145

G

CD68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765

G

corticotropin releasing hormone

protein:decreased expression:hypothalamus (rat)

NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384

G

cytoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:4,191,114...4,201,438
Ensembl chr 9:4,184,959...4,200,164

G

cytochrome P450 family 27 subfamily A member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509

G

cytochrome P450 family 7 subfamily A member 1

treatment

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

PMID:28660384 PMID:29360226

RGD:14995480 RGD:21203516

NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310

G

cytochrome P450 family 8 subfamily B member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

gap junction protein beta 1

mRNA,protein:decreased expression:liver:

NCBI chr X:55,565,995...55,575,332
Ensembl chr X:55,573,808...55,574,659

G

gap junction protein beta 2

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165

G

3-hydroxy-3-methylglutaryl-CoA synthase 2

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

NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419

G

HNF1 homeobox A

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

NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:50,966,698...50,968,939

G

kelch like ECH associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496

G

galectin 1

mRNA:increased expression:liver (rat)

NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646

G

mitogen-activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

mitogen-activated protein kinase 8

CTD Direct Evidence: marker/mechanism

NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401

G

mitogen-activated protein kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,443,528...1,480,501
Ensembl chr11:1,443,547...1,478,119

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:30026087 PMID:31900718

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

nuclear receptor subfamily 1 group H member 4

disease_progression
treatment

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

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

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

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

G

opioid receptor mu 1

mRNA:decreased expression:hypothalamus, hippocampus

NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238

G

platelet derived growth factor receptor beta

treatment

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

pleiotrophin

mRNA:increased expression:liver (rat)

NCBI chr16:11,283,078...11,382,820
Ensembl chr16:11,283,077...11,382,814

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

SET domain containing 7, histone lysine methyltransferase

treatment

NCBI chr19:3,186,620...3,229,305
Ensembl chr19:3,186,906...3,224,113

G

solute carrier family 22 member 1

protein:decreased expression:kidney

NCBI chr 1:49,268,978...49,296,522

G

solute carrier family 22 member 2

protein:increased expression:kidney

NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

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 chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

glutamate dehydrogenase 1

protein:increased expression:serum

NCBI chr 4:34,629,046...34,662,711

gallbladder adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

DNA:polymorphism: :rs4646994 (human)

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

cyclin dependent kinase 1

protein:increased expression:gallbladder

NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197

G

discoidin domain receptor tyrosine kinase 2

disease_progression

NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

interferon-induced transmembrane protein 1

disease_progression

NCBI chr18:25,494,018...25,495,114

gallbladder cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

disease_progression

DNA:SNP::rs11954856(human)

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

apolipoprotein B

susceptibility

DNA:SNP: :rs693 (human)

PMID:17696941 PMID:20082485

RGD:2325761 RGD:2325764

NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

axin 2

disease_progression

DNA:SNP::s4791171(human)

NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Gallbladder cancer

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

BUB1 mitotic checkpoint serine/threonine kinase B

mRNA:increased expression:gallbladder

NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052

G

calreticulin

exacerbates

mRNA, protein:increased expression:gall bladder (human)

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

C-C motif chemokine receptor 5

onset

DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

catenin beta 1

ClinVar Annotator: match by term: Gallbladder cancer

PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 More...

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

cytochrome P450 family 17 subfamily A member 1

susceptibility

DNA:transition:5' utr:-34T>C rs743572 (human)

NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852

G

cytochrome P450 family 1 subfamily A member 1

DNA:polymorphism: :p.I462V (human)
DNA:transition: :6235T>C (human)

PMID:18287863 PMID:18990008

RGD:2317211 RGD:2317212

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

dihydropyrimidine dehydrogenase

disease_progression

NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923

G

epidermal growth factor

susceptibility

DNA:SNP: :+61A>G (rs4444903)(human)

PMID:8093356 PMID:18571008

RGD:2317641 RGD:2317646

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

GLI family zinc finger 1

disease_progression

DNA:SNP::rs2228226(human)

NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982

G

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

protein:increased expression:gall bladder (human)

NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442

G

kelch like ECH associated protein 1

DNA:missense mutations, frameshift mutations:cds:multiple (human)

NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Gallbladder cancer

PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

LDL receptor related protein 1B

ameliorates

DNA:mutations:multiple: (human)

NCBI chr19:42,608,167...44,427,492
Ensembl chr19:42,609,684...44,427,262

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Gallbladder cancer

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

retinol binding protein 4

disease_progression

associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human)

NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750

G

RPTOR independent companion of MTOR complex 2

DNA:CNV, amplification:exon (human)

NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566

G

SMAD family member 4

ClinVar Annotator: match by term: Gallbladder cancer

PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 More...

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

tumor protein p53

ClinVar Annotator: match by term: Gallbladder cancer

PMID:1631137 PMID:1978757 PMID:8023157 PMID:8062826 PMID:8099841 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

X-ray repair cross complementing 1

susceptibility

DNA:polymorphisms: :p.R194W, p.R399Q (human)

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

gallbladder carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479

G

actin related protein 3

severity

Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)

NCBI chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724

G

ANTXR cell adhesion molecule 1

severity

NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:gall bladder (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

cofilin 1

severity

Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)

NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212

G

CLPTM1 like

susceptibility

DNA:SNP, haplotype: :rs401681(human)

NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Carcinoma of gallbladder

PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 3

ClinVar Annotator: match by term: Carcinoma of gallbladder

NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264

G

glutathione peroxidase 3

severity

protein:decreased expression:gallbladder (human)

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

G

interleukin 10

susceptibility

associated with Cholelithiasis

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

microRNA mir-155

disease_progression

miRNA:increased expression:gall bladder

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

microtubule associated scaffold protein 1

disease_progression

NCBI chr16:40,955,619...41,118,601
Ensembl chr16:40,957,574...41,068,967

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Carcinoma of gallbladder

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

patched 1

disease_progression

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

Rac family small GTPase 1

exacerbates

protein:increased expression:gallbladder (human)

NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216

G

telomerase reverse transcriptase

susceptibility

DNA:SNP, haplotype: :rs2736100(human)

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

transforming growth factor alpha

NCBI chr10:68,915,671...68,957,027

G

tight junction protein 1

protein:decreased expression:gallbladder

NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574

G

tumor protein p53

ClinVar Annotator: match by term: Carcinoma of gallbladder

PMID:1565143 PMID:8023157 PMID:8062826 PMID:8164043 PMID:8336941 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

ubiquitin protein ligase E3 component n-recognin 5

ameliorates

human cell line in a mouse model

NCBI chr13:3,887,408...4,023,364
Ensembl chr13:3,879,220...4,023,955

Gallbladder Disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: Gallbladder disease 1 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis

PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:14999697 More...

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

Gallbladder Disease 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

ClinVar Annotator: match by term: Gallbladder disease 4

PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 More...

NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773

G

ATP binding cassette subfamily G member 8

ClinVar Annotator: match by term: Gallbladder disease 4

PMID:4360855 PMID:11099417 PMID:11452359 PMID:11893785 PMID:12124998 More...

NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229

Gallbladder Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

DNA:hypermethylation:promoter

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

B9 domain containing 2

susceptibility

DNA:polymorphism: : -509C>T (human)

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

BCL2 apoptosis regulator

CTD Direct Evidence: therapeutic

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

cholecystokinin A receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:84,010,700...84,019,066
Ensembl chr 3:84,010,205...84,021,293

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264

G

erb-b2 receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

ERCC excision repair 2, TFIIH core complex helicase subunit

DNA:SNP: :p.D312N (rs1799793) (human)

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

Fas ligand

disease_progression

protein:increased expression:gallbladder

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

fibroblast growth factor 2

protein:increased expression:bile

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

fascin actin-bundling protein 1

severity

NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808

G

glutathione S-transferase pi 1

susceptibility

DNA:SNP:cds:p.I105V (rs1695) (human)

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

hepatocyte growth factor

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

interleukin 1 beta

susceptibility

associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human)

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 4 receptor

mRNA:increased expression:gallbladder

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

kelch like ECH associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

mucin-6

protein:decreased expression:gallbladder

NCBI chr18:45,359,412...45,376,678

G

MET proto-oncogene, receptor tyrosine kinase

severity

protein:increased expression:gallbladder (human)

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

O-6-methylguanine-DNA methyltransferase

disease_progression
resistance

protein:decreased expression:tumor (human)
DNA:transition:exon:EX5-25C>T rs12917 (human)

PMID:18158568 PMID:18708406

RGD:2317636 RGD:2317637

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:gallbladder

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mucin 1, cell surface associated

severity

mRNA,protein:increased expression:gallbladder

NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

mucin 16, cell surface associated

protein:increased expression:serum

NCBI chr20:51,790,036...51,876,801

G

mucin 2, oligomeric mucus/gel-forming

protein:increased expression:gallbladder

NCBI chr18:45,416,347...45,438,226

G

mucin 4, cell surface associated

mRNA,protein:increased expression:gallbladder

NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802

G

mucin 5AC, oligomeric mucus/gel-forming

protein:decreased expression:gallbladder

NCBI chr18:45,471,232...45,498,961

G

neural cell adhesion molecule 1

disease_progression

protein:increased expression:epithelial cell

NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995

G

nitric oxide synthase 2

protein:increased expression:gallbladder
associated with Gallbladder Diseases; protein:decreased expression:gllbladder

PMID:14704000 PMID:14991947

RGD:2325250 RGD:2325251

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nuclear receptor subfamily 1 group H member 2

DNA:deletion:exon:exons 5 and 6, estrogen dependent

NCBI chr 1:106,332,691...106,339,168
Ensembl chr 1:106,332,798...106,339,135

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human)
DNA:polymorphism: :p.S326C (human)

PMID:19266243 PMID:20564624

RGD:2317128 RGD:8657150

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

prostaglandin-endoperoxide synthase 2

susceptibility

DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human)

PMID:17575102 PMID:19455278 PMID:19606394

RGD:2317181 RGD:2317182 RGD:2317188

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

G

thrombospondin 1

disease_progression

NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:24997986

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

ubiquitin C-terminal hydrolase L1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350

Gallstones

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 8

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229

G

cholecystokinin

CTD Direct Evidence: marker/mechanism

NCBI chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657

G

3-hydroxy-3-methylglutaryl-CoA reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294

G

SMAD family member 4

mRNA,protein:decreased expression:intrahepatic bile duct

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

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 chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516

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:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

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 chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976

G

glucose-6-phosphate isomerase

ClinVar Annotator: match by term: Hereditary spherocytosis

NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316

G

KLF transcription factor 1

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

NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602

G

olfactory receptor family 10 subfamily Z member 1

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280

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 chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915

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 chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966

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 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514

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 chr10:69,056,367...69,098,775
Ensembl chr10:69,057,267...69,098,521

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 chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226

G

erythrocyte membrane protein band 4.2

OMIM:182900

NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976

G

spectrin alpha, erythrocytic 1

OMIM:182900

NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966

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: SPTB-related condition

NCBI chr 8:39,112,613...39,155,115
Ensembl chr 8:39,072,389...39,155,173

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 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193

hereditary spherocytosis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

olfactory receptor family 10 subfamily Z member 1

ClinVar Annotator: match by term: Hereditary spherocytosis type 3

NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280

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 chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966

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 chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915

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 chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976

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 chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033

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 chr34:22,392,108...22,414,250
Ensembl chr34:22,317,474...22,412,665

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 3:252,052...380,506
Ensembl chr 3:253,081...322,993

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 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

BRCA1 associated protein 1

disease_progression

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

beclin 1

disease_progression

NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236

G

B-Raf proto-oncogene, serine/threonine kinase

severity

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

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

Fas cell surface death receptor

disease_progression

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fas ligand

severity

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

forkhead box P3

DNA:hypomethylation:liver

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

heat shock protein 90 alpha family class A member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243

G

heat shock protein 90 alpha family class B member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr12:12,658,415...12,664,945
Ensembl chr12:12,660,008...12,664,940

G

isocitrate dehydrogenase (NADP(+)) 1

no_association

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

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

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

PMID:22824796 PMID:32463951

RGD:149735894 RGD:14985256

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

lysine demethylase 5C

exacerbates

protein:decreased expression:bile duct (human)

NCBI chr X:44,921,271...44,953,338
Ensembl chr X:44,921,816...44,952,616

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations::

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

lipocalin 2

treatment

Protein:increased expression:bile duct

NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

G

LDL receptor related protein 1B

exacerbates

DNA:mutations:multiple: (human)

NCBI chr19:42,608,167...44,427,492
Ensembl chr19:42,609,684...44,427,262

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr20:25,314,597...25,952,256
Ensembl chr20:25,314,923...25,949,921

G

microRNA mir-152

miRNA:decreased expression:intrahepatic bile duct

NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225

G

microRNA mir-200b

RNA:increased expression:liver

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

microRNA mir-21

RNA:increased expression:liver,plasma

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-221

severity

NCBI chr X:39,523,890...39,523,951
Ensembl chr X:39,523,885...39,523,954

G

polybromo 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

PMID:27864835 PMID:30377796

RGD:150340628 RGD:152998946

NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203

G

phosphatase and tensin homolog

disease_progression

protein:decreased expression:liver (human)

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

ring finger protein 43

exacerbates

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

NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313

G

RUNX family transcription factor 1

mRNA:increased expression:intrahepatic bile duct

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

S100 calcium binding protein B

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183

G

SMAD family member 4

disease_progression

mRNA,protein:decreased expression:intrahepatic bile duct

PMID:16917866 PMID:23981608

RGD:18936999 RGD:21066336

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

telomerase associated protein 1

mRNA:increased expression:hepatocyte,biliary epithelium.

NCBI chr15:17,716,887...17,748,485
Ensembl chr15:17,716,887...17,764,356

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:16641580 PMID:18395098 PMID:19101985 PMID:22364601 More...

NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

adaptor related protein complex 1 subunit sigma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,705,294...8,711,285
Ensembl chr 6:8,705,647...8,711,190

G

ATPase phospholipid transporting 8B1

susceptibility

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

PMID:5807632 PMID:9500542 PMID:9918928 PMID:14988830 PMID:15239083 More...

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

cytochrome P450 family 2 subfamily E member 1

NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754

G

early growth response 1

CTD Direct Evidence: marker/mechanism

PMID:18364083 PMID:22094456

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

ectonucleoside triphosphate diphosphohydrolase 1

protein:decreased activity,altered location:liver:

NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939

G

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

CBAS1, OMIM:607765

NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114

G

MAF bZIP transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735

G

MAF bZIP transcription factor G

CTD Direct Evidence: marker/mechanism

NCBI chr 9:368,102...373,825
Ensembl chr 9:372,216...372,797

G

microRNA mir-27a

mRNA:increased expression:liver (mouse)

NCBI chr20:48,620,556...48,620,615
Ensembl chr20:48,620,556...48,620,615

G

nuclear receptor subfamily 0 group B member 2

mRNA, protein:increased expression:liver

NCBI chr 2:73,234,482...73,236,548
Ensembl chr 2:73,234,586...73,236,206

G

nuclear receptor subfamily 1 group H member 4

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

G

solute carrier family 22 member 1

mRNA, protein:decreased expression:liver

NCBI chr 1:49,268,978...49,296,522

G

solute carrier family 22 member 2

mRNA, protein:decreased expression:kidney

NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435

G

tight junction protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

G

histone deacetylase 3

severity

NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682

G

interleukin 18

severity

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933

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:20981092 More...

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

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 chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

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 chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141

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 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

AT-rich interaction domain 1A

disease_progression

DNA:deletions

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

GATA binding protein 6

sexual_dimorphism

DNA:mutations

NCBI chr 7:65,932,114...65,962,574

G

lysine methyltransferase 2C

onset

DNA:mutations

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170

Martinez-Frias Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulatory factor X6

ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA

PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More...

NCBI chr 1:57,242,563...57,297,300
Ensembl chr 1:57,241,927...57,296,546

Mitchell-Riley Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulatory factor X6

ClinVar Annotator: match by term: Mitchell-Riley syndrome

PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More...

NCBI chr 1:57,242,563...57,297,300
Ensembl chr 1:57,241,927...57,296,546

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:25741909 PMID:34037727

NCBI chr14:18,742,214...18,874,779
Ensembl chr14:18,742,349...18,874,776

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 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

adrenomedullin

protein:increased expression:plasma:

NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495

G

albumin

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

C-C motif chemokine ligand 2

treatment

NCBI chr 9:39,008,187...39,009,932

G

CD14 molecule

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

NCBI chr 2:35,790,505...35,792,967

G

complement factor H

protein:decreased expression:plasma:

NCBI chr38:2,878,677...2,956,226

G

glutamic--pyruvic transaminase

NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156

G

hydroxymethylbilane synthase

Protein:increased activity:liver (rat)

NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082

G

high mobility group box 1

protein:increased expression:liver, plasma

NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165

G

interferon regulatory factor 5

mRNA,protein:increased expression:liver,nucleus:

NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795

G

lipopolysaccharide binding protein

mRNA:increased expression:liver

NCBI chr24:26,810,369...26,833,515
Ensembl chr24:26,809,843...26,833,434

G

proliferating cell nuclear antigen

treatment

NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992

G

toll like receptor 2

treatment

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

uncoupling protein 2

NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128

opisthorchiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 3

NCBI chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724

G

cytochrome P450, family 2, subfamily A, polypeptide 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076

G

microRNA mir-192

RNA:increased expression:urine

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

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 3:53,294,628...53,307,759
Ensembl chr 3:53,295,197...53,309,067

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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

ATP binding cassette subfamily C member 2

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

PMID:15542527 PMID:15770136

NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

ATP binding cassette subfamily G member 2

CTD Direct Evidence: marker/mechanism

NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674

G

angiotensin I converting enzyme

mRNA:increased expression:liver

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

angiotensin converting enzyme 2

mRNA, protein:increased expression:liver

NCBI chr X:11,798,839...11,839,591
Ensembl chr X:11,798,839...11,900,594

G

angiotensinogen

protein:increased expression:plasma

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

aquaporin 4

NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

C-C motif chemokine ligand 5

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

PMID:12126966 PMID:15770052

NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852

G

cellular communication network factor 2

mRNA:increased expression:liver (rat)

NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145

G

CD3 delta subunit of T-cell receptor complex

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750

G

CD80 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380

G

cadherin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:82,830,505...82,863,931
Ensembl chr 5:82,830,939...82,863,882

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

centromere protein B

NCBI chr24:17,569,440...17,572,311
Ensembl chr24:17,569,663...17,572,127

G

C-type lectin domain containing 16A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678

G

collagen type I alpha 1 chain

treatment

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

cytoplasmic polyadenylation element binding protein 1

protein:increased expression:liver

NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221

G

cytoplasmic polyadenylation element binding protein 4

protein:increased expression:liver

NCBI chr 4:38,604,065...38,665,200
Ensembl chr 4:38,607,948...38,664,821

G

cytotoxic T-lymphocyte associated protein 4

susceptibility
disease_progression
no_association

autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNP:CDS:49A>G(human)

PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562

RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

C-X-C motif chemokine ligand 10

CTD Direct Evidence: marker/mechanism

NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979

G

C-X-C motif chemokine ligand 8

mRNA:increased expression:liver (human)

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

C-X-C motif chemokine receptor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762

G

cytoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:4,191,114...4,201,438
Ensembl chr 9:4,184,959...4,200,164

G

dystroglycan 1

mRNA:increased expression:liver

NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550

G

DENN domain containing 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:5,008,249...5,267,392
Ensembl chr 7:4,999,430...5,262,630

G

deoxyribonuclease 1

protein:decreased activity:serum (human)

NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827

G

ectonucleoside triphosphate diphosphohydrolase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452

G

Fas cell surface death receptor

protein:increased expression:lymphocyte:

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

forkhead box P3

mRNA:increased expression:liver

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

GTP cyclohydrolase 1

treatment

NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156

G

hepcidin antimicrobial peptide

treatment

mRNA:decreased expression:liver

PMID:19652645 PMID:23704825

RGD:11041639 RGD:11041732

NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619

G

hedgehog interacting protein

mRNA:decreased expression:

NCBI chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

heme oxygenase 1

mRNA, protein:increased expression:liver, lung

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

intercellular adhesion molecule 1

treatment

associated with Graft vs Host Disease;

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

intercellular adhesion molecule 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,777,422...50,783,853
Ensembl chr20:50,777,467...50,783,787

G

interferon gamma

mRNA:increased expression:liver

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

insulin like growth factor binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,037,169...1,040,996
Ensembl chr16:1,037,162...1,167,094

G

interleukin 10

mRNA:increased expression:liver

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 12A

susceptibility
treatment

DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs62270414(human)

PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695

RGD:25440489 RGD:25440498 RGD:25440500

NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228

G

interleukin 12 receptor subunit beta 1

susceptibility

RNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr20:44,885,410...44,908,139
Ensembl chr20:44,885,337...44,904,538

G

interleukin 4

treatment

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 7 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300

G

Janus kinase 2

treatment

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

kelch like ECH associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496

G

keratin 18

severity

protein:increased expression:serum (human)

NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368

G

keratin 7

CTD Direct Evidence: marker/mechanism

NCBI chr27:2,812,709...2,827,451

G

lamin B receptor

NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

G

leptin

protein:decreased expression:serum:

NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395

G

leptin receptor

protein:increased expression:blood serum

NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819

G

lysyl oxidase like 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969

G

mitogen-activated protein kinase kinase kinase 14

OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221

NCBI chr 9:18,255,416...18,302,405
Ensembl chr 9:18,280,198...18,302,401

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603

G

MAS1 proto-oncogene, G protein-coupled receptor

NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244

G

MET proto-oncogene, receptor tyrosine kinase

severity

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

microRNA mir-21

severity

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-223

severity

NCBI chr X:50,838,131...50,838,233
Ensembl chr X:50,838,131...50,838,233

G

membrane metalloendopeptidase like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911

G

matrix metallopeptidase 13

treatment

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

matrix metallopeptidase 2

treatment

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

treatment

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 9

treatment

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mucin 2, oligomeric mucus/gel-forming

NCBI chr18:45,416,347...45,438,226

G

myosin binding protein C2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,294,360...106,301,700
Ensembl chr 1:106,266,817...106,301,686

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

nuclear factor kappa B subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703

G

nitric oxide synthase 2

protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism

PMID:21903766 PMID:30026087

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nitric oxide synthase 3

treatment

CTD Direct Evidence: marker/mechanism

PMID:20132096 PMID:30026087

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

nuclear receptor subfamily 1 group H member 4

susceptibility

mRNA,protein:decreased expression:liver (human)

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

G

nuclear receptor subfamily 3 group C member 1

mRNA:altered expression:leukocyte, mononuclear

NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755

G

NSA2 ribosome biogenesis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:57,304,160...57,311,836

G

nucleoporin 62

severity

NCBI chr 1:106,636,282...106,661,250

G

phosphodiesterase 5A

NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522

G

PPARG coactivator 1 alpha

mRNA, protein:decreased expression:liver

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

renin

protein:increased activity:plasma (rat)

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

ribosomal protein S6 kinase B1

protein:increased expression, increased phosphorylation:liver

NCBI chr 9:34,387,084...34,590,603
Ensembl chr 9:34,387,091...34,425,292

G

solute carrier family 4 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617

G

solute carrier family 51 member A

CTD Direct Evidence: marker/mechanism

NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738

G

SLC51 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr30:29,425,489...29,436,204
Ensembl chr30:29,425,860...29,436,073

G

solute carrier organic anion transporter family member 1C1

protein:decreased expression:liver

NCBI chr27:26,497,639...26,553,790
Ensembl chr27:26,498,292...26,553,314

G

superoxide dismutase 2

protein:increased expression:serum

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

serine peptidase inhibitor, Kunitz type 1

mRNA:increased expression:liver:

NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339

G

serine peptidase inhibitor, Kunitz type 2

mRNA:increased expression:liver:

NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763

G

signal transducer and activator of transcription 4

susceptibility
no_association

CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes:multiple
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNP: intron: (rs7574865) (human)
associated with Crohn��s disease; DNA:SNP:intron: (rs7574865) (human)

PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724

RGD:25671415 RGD:25671416 RGD:25671421

NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894

G

tight junction protein 2

ClinVar Annotator: match by term: Primary biliary cholangitis

PMID:25741868 PMID:28492532 PMID:32439973

NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654

G

toll like receptor 9

protein:increased expression:liver, peripheral blood mononuclear cell (human)

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

tumor necrosis factor

protein:increased expression:serum (human)
mRNA:increased expression:liver

PMID:9047083 PMID:17158635

RGD:14995307 RGD:38501106

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF receptor superfamily member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

G

tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216

G

ubiquitin D

CTD Direct Evidence: marker/mechanism

NCBI chr35:26,426,919...26,436,189

G

UTP4 small subunit processome component

North American Indian childhood cirrhosis, OMIM:604901, R565W

NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981

G

vitamin D receptor

susceptibility

DNA:polymorphism: :
DNA:SNP: :

PMID:15683428 PMID:19376604

RGD:14401750 RGD:14402024

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

G

vascular endothelial growth factor A

protein:increased expression:liver
protein:increased expression:plasma:

PMID:26615570 PMID:26627607

RGD:11528851 RGD:11538286

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

zinc finger CCCH-type containing 12A

OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221

NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371

primary biliary cholangitis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 12 receptor subunit beta 2

ClinVar Annotator: match by term: IL12RB2-related condition

PMID:25741868 PMID:28492532

NCBI chr 5:43,197,034...43,269,571
Ensembl chr 5:43,197,034...43,257,594

primary sclerosing 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

OMIM:613806

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

CF transmembrane conductance regulator

susceptibility

associated with inflammatory bowel disease; DNA:misense mutations:multiple

NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977

G

major histocompatibility complex, class II, DQ beta 1

disease_progression

NCBI chr12:2,305,307...2,307,711

G

deoxyribonuclease 1

protein:decreased activity:serum (human)

NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827

G

gonadotropin releasing hormone receptor

mRNA:increased expression:liver:

NCBI chr13:58,253,112...58,266,600
Ensembl chr13:58,253,027...58,266,705

G

keratin 18

severity

protein:increased degradation:serum (human)

NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368

G

microRNA mir-155

miRNA:decreased expression:serum

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

microRNA mir-200b

treatment

RNA:increased expression:liver

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

tumor necrosis factor

protein:increased expression:serum (human)

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

vitamin D receptor

mRNA:decreased expression:liver

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

G

vascular endothelial growth factor A

protein:increased expression:plasma:

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

progressive familial 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

ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis

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

NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis

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

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis

PMID:5807632 PMID:9500542 PMID:9918928 PMID:14988830 PMID:15239083 More...

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

progressive familial intrahepatic cholestasis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

CTD Direct Evidence: marker/mechanism

NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: Byler disease

PMID:12891548 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 More...

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease

PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 More...

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

G

nuclear receptor subfamily 1 group H member 4

ClinVar Annotator: match by term: Byler disease

PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

Progressive Familial Intrahepatic Cholestasis 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VB

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10

PMID:18724368 PMID:20186687 PMID:25741868 PMID:27532546 PMID:28027573 More...

NCBI chr 7:78,671,636...79,006,010
Ensembl chr 7:78,671,616...79,006,006

Progressive Familial Intrahepatic Cholestasis 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

semaphorin 7A

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11

NCBI chr30:37,531,986...37,547,650
Ensembl chr30:37,531,971...37,566,645

Progressive Familial Intrahepatic Cholestasis 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VPS33B late endosome and lysosome associated

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12

PMID:18853461 PMID:25741868 PMID:31479177

NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732

progressive familial intrahepatic cholestasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

disease_progression

ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 More...

RGD:14402418 RGD:14688048

NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2

PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More...

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

progressive familial intrahepatic cholestasis 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: MDR3 deficiency

PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 More...

NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency

PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 More...

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

progressive familial intrahepatic cholestasis 4

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: Cholestasis, progressive familial intrahepatic, 4

PMID:24033266 PMID:24614073 PMID:25741868 PMID:25741916 PMID:25921221 More...

NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654

G

ubiquitin specific peptidase 53

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like)

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

NCBI chr32:38,148,120...38,213,370
Ensembl chr32:38,163,790...38,211,181

progressive familial intrahepatic cholestasis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 1 group H member 4

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition

PMID:11030617 PMID:17681172 PMID:21633855 PMID:24806754 PMID:25741868 More...

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

Progressive Familial Intrahepatic Cholestasis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 51 member A

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6

PMID:25741868 PMID:31863603

NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738

Progressive Familial Intrahepatic Cholestasis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquitin specific peptidase 53

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss

PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741905 PMID:25741916 More...

NCBI chr32:38,148,120...38,213,370
Ensembl chr32:38,163,790...38,211,181

Progressive Familial Intrahepatic Cholestasis 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 12

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8

PMID:25741868 PMID:25741916 PMID:30250217 PMID:30976738 PMID:34555379

NCBI chr11:68,361,527...68,370,160
Ensembl chr11:68,361,565...68,369,693

Progressive Familial Intrahepatic Cholestasis 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger FYVE-type containing 19

ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9

PMID:25741909 PMID:32737136 PMID:33853651

NCBI chr30:7,945,364...7,952,751
Ensembl chr30:7,945,407...7,952,751

Reynolds Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome

PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More...

NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

sclerosing 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

PMID:15236191 PMID:16472600 PMID:29808285

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

BCL2 like 11

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,619,804...35,665,782
Ensembl chr17:35,619,582...35,664,587

G

doublecortin domain containing 2

ClinVar Annotator: match by term: Isolated neonatal sclerosing cholangitis

PMID:16199547 PMID:23677054 PMID:23746548 PMID:25557784 PMID:25741868 More...

NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

macrophage stimulating 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

ubiquitin associated and SH3 domain containing A

CTD Direct Evidence: marker/mechanism

NCBI chr31:36,735,790...36,778,405
Ensembl chr31:36,735,835...36,778,405

Term paths to the root

Path 1
Term	Annotations
disease	17773
disease of anatomical entity	15145
gastrointestinal system disease	6496
hepatobiliary disease	2899
biliary tract disease	519
BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME	1
bile duct disease +	476
bile reflux	0
biliary tract benign neoplasm +	145
cholelithiasis +	13
gallbladder disease +	90
perforation of bile duct	0
postcholecystectomy syndrome	0

paths to the root