bile duct disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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

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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 chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408

G

ferrochelatase

CTD Direct Evidence: marker/mechanism

NCBI chr18:22,143,268...22,182,259
Ensembl chr18:22,143,483...22,182,416

G

MAGE family member E1

CTD Direct Evidence: marker/mechanism

NCBI chr X:65,650,548...65,653,774
Ensembl chr X:65,650,809...65,653,682

Aagenaes syndrome

term browser

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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 chr29:8,908,381...8,932,555
Ensembl chr29:8,908,141...8,923,031

Alagille syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

jagged canonical Notch ligand 1

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

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

NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504

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 chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

ALAGILLE SYNDROME 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and EF-hand domain containing 1

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

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

NCBI chr 2:28,100,762...28,123,513
Ensembl chr 2:28,098,030...28,123,501

G

hydroxyacid oxidase 1

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

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

NCBI chr 2:30,183,031...30,238,663
Ensembl chr 2:30,183,705...30,240,231

G

jagged canonical Notch ligand 1

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

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

NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504

G

lysosomal associated membrane protein family member 5

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

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

NCBI chr 2:28,602,479...28,619,632
Ensembl chr 2:28,601,497...28,624,572

G

MKKS centrosomal shuttling protein

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

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

NCBI chr 2:27,728,295...27,757,569
Ensembl chr 2:27,736,537...27,757,237

G

p21 (RAC1) activated kinase 5

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

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

NCBI chr 2:28,287,478...28,595,382
Ensembl chr 2:28,288,945...28,595,686

G

phospholipase C beta 1

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

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

NCBI chr 2:29,242,601...29,994,238
Ensembl chr 2:29,242,425...29,496,793

G

phospholipase C beta 4

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

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

NCBI chr 2:28,650,604...29,059,435
Ensembl chr 2:28,650,421...28,915,290

G

SLX4 interacting protein

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

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

NCBI chr 2:27,530,833...27,727,480
Ensembl chr 2:27,535,125...27,602,793

G

synaptosome associated protein 25

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

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

NCBI chr 2:27,857,093...27,944,487
Ensembl chr 2:27,858,319...27,944,496

G

thioredoxin related transmembrane protein 4

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

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

NCBI chr 2:30,110,591...30,147,116

ALAGILLE SYNDROME 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 2

ClinVar Annotator: match by term: Alagille syndrome 2

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

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

ARC syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

PMID:20190753 PMID:25741868

NCBI chr24:54,688,278...54,719,054
Ensembl chr24:54,688,230...54,719,042

G

VPS33B late endosome and lysosome associated

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

PMID:25741868 PMID:28492532

NCBI chr29:8,838,289...8,862,914
Ensembl chr29:8,838,735...8,862,977

arthrogryposis, renal dysfunction, and cholestasis 1

term browser

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Object Name

Qualifiers

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

fibrillin 1

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

NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217

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 chr24:54,688,278...54,719,054
Ensembl chr24:54,688,230...54,719,042

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 chr29:8,838,289...8,862,914
Ensembl chr29:8,838,735...8,862,977

arthrogryposis, renal dysfunction, and cholestasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

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

NCBI chr24:54,688,278...54,719,054
Ensembl chr24:54,688,230...54,719,042

benign recurrent intrahepatic cholestasis 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: Summerskill syndrome

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

NCBI chr18:21,930,150...22,086,371
Ensembl chr18:21,930,837...22,088,480

benign recurrent intrahepatic cholestasis 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

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

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

NCBI chr10:54,458,283...54,575,943
Ensembl chr10:54,459,377...54,575,059

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 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

bile duct adenoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr21:109,495,525...109,690,261

bile duct cancer

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein B

susceptibility

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

NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

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 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

mutL homolog 1

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

mutS homolog 2

ClinVar Annotator: match by term: Bile duct cancer

NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198

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 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:28492532

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

tight junction protein 1

protein:decreased expression:bile duct

NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950

bile duct carcinoma

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesothelin

protein:increased expression:bile duct

NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

Bile Duct Neoplasms

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

aspartate beta-hydroxylase

mRNA:increased expression:bile duct

NCBI chr 8:57,378,019...57,599,812
Ensembl chr 8:57,375,894...57,565,259

G

epidermal growth factor receptor

CTD Direct Evidence: therapeutic

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile duct

NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337

G

interleukin 6

disease_progression

protein:increased expression:serum

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

mucin-16

protein:increased expression:serum,bile

NCBI chr 6:8,110,087...8,256,015

G

mucin-4

disease_progression

protein:increased expression:bile duct

NCBI chr15:91,313,060...91,345,172

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:intrahepatic bile duct (human)

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

O-6-methylguanine-DNA methyltransferase

severity

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

NCBI chr 9:122,089,768...122,376,320

G

marker of proliferation Ki-67

disease_progression

NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866

G

neural cell adhesion molecule 1

disease_progression

PMID:8501910 PMID:9851639

RGD:2326076 RGD:2326077

NCBI chr 1:104,332,622...104,647,258

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307

biliary atresia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

G

CD14 molecule

disease_progression

mRNA, protein:increased expression:liver, plasma:

NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

delta like non-canonical Notch ligand 1

NCBI chr24:78,687,542...78,695,782
Ensembl chr24:78,687,668...78,695,607

G

gamma-glutamyltransferase 1

disease_progression

G

GLI family zinc finger 2

disease_progression

NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115

G

hepcidin antimicrobial peptide

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996

G

intercellular adhesion molecule 1

susceptibility

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

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

interleukin 18

susceptibility

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

PMID:10726686 PMID:30059753

RGD:14695528 RGD:14695529

NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150

G

phosphatase and tensin homolog

mRNA:decreased expression:liver (human)

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

sonic hedgehog signaling molecule

disease_progression

NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395

G

SRY-box transcription factor 17

NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847

G

serine peptidase inhibitor, Kunitz type 1

disease_progression

mRNA,protein:increased expression:liver:

NCBI chr26:42,136,749...42,150,125
Ensembl chr26:42,134,536...42,150,118

G

serine peptidase inhibitor, Kunitz type 2

mRNA,protein:increased expression:liver:

NCBI chr 6:32,902,336...32,935,681
Ensembl chr 6:32,902,946...32,939,136

G

secreted phosphoprotein 1

NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407

G

transforming growth factor beta 1

treatment

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

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 chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729

G

intraflagellar transport 56

ClinVar Annotator: match by term: Caroli disease

PMID:25741868 PMID:31595528 PMID:32617964

NCBI chr21:107,863,335...107,927,637
Ensembl chr21:107,864,275...107,927,736

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 chr17:20,411,746...20,873,601

G

WD repeat domain 19

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

NCBI chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666

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 chr17:20,411,746...20,873,601

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 chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

G

adrenoceptor beta 2

protein:decreased expression:liver

NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401

G

albumin

disease_progression

PMID:10776430 PMID:17545000 PMID:20431764

RGD:2325679 RGD:2325680 RGD:2325682

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

arachidonate 5-lipoxygenase

protein:increased expression:bile duct

NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331

G

annexin A2

disease_progression

NCBI chr26:23,100,000...23,147,687
Ensembl chr26:23,099,992...23,145,457

G

APC regulator of WNT signaling pathway

DNA:loss of heterozygosity
DNA:hypermethylation:promoter

PMID:10212000 PMID:15467712

RGD:2317198 RGD:2317205

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

apolipoprotein A1

protein:decreased expression:serum

NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

aspartate beta-hydroxylase

NCBI chr 8:57,378,019...57,599,812
Ensembl chr 8:57,375,894...57,565,259

G

autophagy related 101

disease_progression

NCBI chr11:48,243,200...48,251,129
Ensembl chr11:48,243,216...48,251,371

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:25231345

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

baculoviral IAP repeat containing 6

ameliorates

mRNA:increased expression:bile duct (human)

NCBI chr14:74,879,597...75,138,462
Ensembl chr14:74,878,700...75,138,441

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr21:109,495,525...109,690,261

G

C-X-C motif chemokine ligand 8

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

C-X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr10:104,052,709...104,056,388
Ensembl chr10:104,053,544...104,054,620

G

cytochrome P450 family 24 subfamily A member 1

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

NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884

G

epidermal growth factor

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868 PMID:28492532

NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

erythropoietin

mRNA, protein:increased expression:liver

NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908

G

erythropoietin receptor

mRNA, protein:increased expression:liver

NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

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 chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

Fas ligand

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

fibroblast growth factor 2

protein:increased expression:bile

NCBI chr 7:70,089,394...70,157,423

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile ducts

NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337

G

glutathione S-transferase pi 1

treatment

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

PMID:12805482 PMID:15467712

RGD:14401711 RGD:2317198

NCBI chr 1:6,676,897...6,679,936

G

histone deacetylase 6

protein:increased expression:liver:

NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929

G

hepatocyte growth factor

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

PMID:10827151 PMID:16974053

RGD:2317909 RGD:2317925

NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504

G

hypoxia inducible factor 1 subunit alpha

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

interleukin 10

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 19

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499

G

interleukin 1 beta

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor type 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr14:5,672,434...5,708,270
Ensembl chr14:5,673,163...5,708,372

G

interleukin 4 receptor

mRNA:increased expression:bile duct

NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015

G

interleukin 6

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

insulin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 1:1,965,128...1,969,090

G

potassium voltage-gated channel subfamily D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:89,091,939...89,575,464

G

KIT proto-oncogene, receptor tyrosine kinase

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:8968066 PMID:22561520

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

keratin 7

NCBI chr11:48,379,460...48,394,638
Ensembl chr11:48,379,465...48,394,643

G

glutathione S-transferase Mu 1

NCBI chr20:23,854,969...23,861,634

G

cytochrome c

NCBI chr21:33,251,825...33,253,298

G

serine protease 2

protein:increased expression:serum

NCBI chr21:111,650,502...111,656,688
Ensembl chr21:111,651,681...111,656,699

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

mucin-16

associated with Opisthorchiasis;protein:increased expression:serum

NCBI chr 6:8,110,087...8,256,015

G

mucin-6

protein:increased expression: :

NCBI chr 1:822,052...858,589

G

mucin-4

disease_progression

protein:increased expression:bile duct

PMID:14752841 PMID:19082442

RGD:2303602 RGD:2324944

NCBI chr15:91,313,060...91,345,172

G

neuroendocrine secretory protein 55

disease_progression

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

PMID:17356712 PMID:22561520

NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192

G

MDM2 proto-oncogene

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

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

PMID:14656942 PMID:16818635

RGD:2317578 RGD:2317601

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

major facilitator superfamily domain containing 4A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr25:23,740,916...23,774,514
Ensembl chr25:23,743,360...23,774,451

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr 9:122,089,768...122,376,320

G

marker of proliferation Ki-67

disease_progression

NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:bile duct

PMID:15213623 PMID:19629755

RGD:2324667 RGD:2325769

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

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

PMID:15213623 PMID:16463672

RGD:2324667 RGD:2325856

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

mesothelin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism (human)

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

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 chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

mucin 2, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr 1:893,554...926,854

G

mucin 3A, cell surface associated

mRNA:decreased expression:bile duct

G

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

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

PMID:11680592 PMID:14508831

RGD:2324948 RGD:2324990

NCBI chr 1:981,515...1,018,242

G

mucin 5B, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr 1:1,040,756...1,083,246
Ensembl chr 1:1,042,110...1,081,240

G

N-acetyltransferase 2

DNA:polymorphisms (human)

NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621

G

neural cell adhesion molecule 1

associated with hepatitis

NCBI chr 1:104,332,622...104,647,258

G

nitric oxide synthase 2

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

PMID:16094703 PMID:16818635

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

notch receptor 1

protein:increased expression:cholangiocyte

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

nuclear receptor subfamily 1 group H member 4

disease_progression

mRNA:decreased expression:liver (rat)

NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293

G

8-oxoguanine DNA glycosylase

disease_progression

DNA:loss of heterozygosity (human)

PMID:11260864 PMID:11866974

RGD:2317134 RGD:2317136

NCBI chr22:45,757,414...45,763,690

G

oxysterol binding protein 2

mRNA:increased expression:blood

NCBI chr19:13,576,331...13,817,628
Ensembl chr19:13,762,503...13,798,702

G

oxysterol binding protein like 7

mRNA:increased expression:blood

NCBI chr16:68,208,121...68,222,684

G

pannexin 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr19:32,662,350...32,671,536

G

pro-apoptotic WT1 regulator

mRNA,protein:decreased expression:cholangiocyte:

NCBI chr11:75,132,547...75,219,633
Ensembl chr11:75,133,186...75,219,072

G

polybromo 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254

G

paternally expressed 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,284,174...49,300,162
Ensembl chr 6:49,284,064...49,313,455

G

pescadillo ribosomal biogenesis factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,453,184...13,469,115
Ensembl chr19:13,453,160...13,469,012

G

pirin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr X:13,854,356...13,966,554
Ensembl chr X:13,854,236...13,966,506

G

peptidylprolyl isomerase A

ameliorates

human cell line and construct in a mouse model

NCBI chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462

G

protein phosphatase 3 catalytic subunit alpha

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:12,743,752...12,759,155

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,109,774...49,273,200
Ensembl chr20:49,108,425...49,178,806

G

proline rich and Gla domain 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 1:32,368,966...32,391,490
Ensembl chr 1:32,364,771...32,390,977

G

serine protease 56

disease_progression

mRNA:altered expression:liver (human)

NCBI chr10:118,538,752...118,545,759
Ensembl chr10:118,540,863...118,545,740

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

PMID:23376645 PMID:27022031

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin-endoperoxide synthase 2

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

Ras association domain family member 8

disease_progression

mRNA:altered expression:liver (human)

NCBI chr11:25,709,062...25,826,507
Ensembl chr11:25,745,996...25,826,508

G

ring finger protein 39

disease_progression

mRNA:altered expression:liver (human)

NCBI chr17:42,423,486...42,429,631
Ensembl chr17:42,424,126...42,428,787

G

ring finger protein 43

exacerbates

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

NCBI chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107

G

roundabout guidance receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:99,334,033...101,101,924

G

RUNX family transcription factor 3

protein:decreased expression:bile duct

NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307

G

solute carrier family 4 member 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 7:19,581,399...20,043,334

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:16,346,361...16,367,833

G

solute carrier family 7 member 5

disease_progression
treatment

PMID:24131658 PMID:25475870 PMID:28347255

RGD:151361214 RGD:151361287 RGD:151361294

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

G

SMAD family member 4

CTD Direct Evidence: marker/mechanism

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

suppressor of cytokine signaling 3

severity

protein:decreased expression:bile duct (human)

NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423

G

SRY-box transcription factor 17

severity

NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847

G

SRY-box transcription factor 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826

G

transforming growth factor beta 1

disease_progression

protein:increased expression:pancreas

PMID:12632524 PMID:16083599

RGD:1299231 RGD:2325020

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

transforming growth factor beta receptor 2

mRNA:increased expression:bile duct

NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711

G

thrombospondin 1

disease_progression

DNA:hypermethylation (human)

PMID:11927969 PMID:12213730 PMID:16465407

RGD:2325024 RGD:2325026 RGD:2325027

NCBI chr26:43,410,693...43,427,816
Ensembl chr26:43,410,580...43,427,812

G

tenascin C

severity

NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451

G

TNF alpha induced protein 3

severity

protein:increased expression:bile duct (human)

NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:16818635 PMID:22561520

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

transthyretin

protein:decreased expression:blood serum (human)

NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399

G

vascular endothelial growth factor A

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr17:28,377,959...28,394,508

G

WD repeat and HMG-box DNA binding protein 1

ameliorates

NCBI chr24:32,118,688...32,204,464
Ensembl chr24:32,117,375...32,204,388

G

Wnt family member 9A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr25:1,759,047...1,787,510
Ensembl chr25:1,781,826...1,788,663

Cholangiofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 ligand

treatment

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

glutathione S-transferase pi 1

NCBI chr 1:6,676,897...6,679,936

G

isocitrate dehydrogenase (NADP(+)) 1

severity

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

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

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 chr21:61,459,344...61,529,017

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707

G

C-C motif chemokine ligand 2

treatment

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

integrin subunit beta 6

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,506,355...45,650,979
Ensembl chr10:45,504,987...45,595,543

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,714,497...64,719,805
Ensembl chr16:64,714,970...64,719,678

G

NRAS proto-oncogene, GTPase

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

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr17:20,411,746...20,873,601

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

G

toll like receptor 2

disease_progression

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

vitamin D receptor

mRNA,protein:decreased expression:liver

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

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 chr21:61,459,344...61,529,017

G

protection of telomeres 1

mRNA:decreased expression:gall bladder

NCBI chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869

choledochal cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1 (Colton blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr21:27,456,553...27,473,196
Ensembl chr21:27,456,259...27,470,728

G

CF transmembrane conductance regulator

CTD Direct Evidence: marker/mechanism

NCBI chr21:86,154,313...86,332,436

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

PMID:15830394 PMID:18988797

NCBI chr17:20,411,746...20,873,601

G

secretin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:444,487...445,535
Ensembl chr 1:444,601...445,339

G

solute carrier family 4 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:119,240,352...119,258,920
Ensembl chr21:119,241,490...119,263,193

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 chr24:82,021,590...82,049,281
Ensembl chr24:82,021,726...82,049,355

cholestasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

treatment
susceptibility

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

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

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

NCBI chr10:54,458,283...54,575,943
Ensembl chr10:54,459,377...54,575,059

G

ATP binding cassette subfamily B member 4

DNA:mutations: :

PMID:11680581 PMID:26324191

RGD:11565494 RGD:1598589

NCBI chr21:61,459,344...61,529,017

G

ATP binding cassette subfamily C member 2

disease_progression
treatment

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

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

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

NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

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 chr16:42,646,316...42,703,124
Ensembl chr16:42,646,812...42,702,852

G

ATP binding cassette subfamily C member 4 (PEL blood group)

treatment

protein:altered expression:kidney, liver

PMID:15030973 PMID:30223280

RGD:15045612 RGD:2301085

NCBI chr 3:73,821,887...74,106,617
Ensembl chr 3:73,821,134...74,106,579

G

ATP binding cassette subfamily G member 5

NCBI chr14:63,414,241...63,439,193
Ensembl chr14:63,413,691...63,438,917

G

ATP binding cassette subfamily G member 8

NCBI chr14:63,389,817...63,420,048
Ensembl chr14:63,390,433...63,413,906

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

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

NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386

G

alcohol dehydrogenase 5 (class III), chi polypeptide

mRNA, protein:decreased expression:liver

NCBI chr 7:47,190,031...47,211,670
Ensembl chr 7:47,190,294...47,211,651

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

albumin

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

aldehyde dehydrogenase 1 family member B1

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,191,112...42,450,267
Ensembl chr12:42,192,629...42,194,182

G

aldehyde dehydrogenase 1 family member L1

treatment

NCBI chr22:54,848,868...54,933,415
Ensembl chr22:54,848,901...54,934,629

G

aldehyde dehydrogenase 8 family member A1

CTD Direct Evidence: marker/mechanism

NCBI chr13:38,489,459...38,521,983
Ensembl chr13:38,490,181...38,522,087

G

apolipoprotein C3

NCBI chr 1:108,196,283...108,199,274
Ensembl chr 1:108,196,939...108,199,342

G

apolipoprotein E

associated with Pancreatic Neoplasms;protein:increased expression:plasma

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

arginase 1

protein:altered activity:liver (rat)

NCBI chr13:41,971,955...41,983,372
Ensembl chr13:41,971,802...41,983,049

G

branched chain amino acid transaminase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:24,578,760...24,709,541
Ensembl chr11:24,579,487...24,709,132

G

brain expressed X-linked 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:91,119,345...91,121,417
Ensembl chr X:91,119,396...91,120,893

G

biliverdin reductase A

CTD Direct Evidence: marker/mechanism

NCBI chr21:14,777,171...14,820,690
Ensembl chr21:14,773,621...14,820,782

G

basic helix-loop-helix ARNT like 1

mRNA:increased expression:cholangiocyte

NCBI chr 1:51,430,670...51,540,344
Ensembl chr 1:51,431,180...51,462,674

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:74,986,522...75,005,834
Ensembl chr 2:74,990,327...75,006,412

G

calcium dependent secretion activator 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:91,117,749...91,669,284

G

catalase

CTD Direct Evidence: marker/mechanism

PMID:21339256 PMID:27989131

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

G

C-C motif chemokine ligand 7

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,777,795...27,780,413

G

CD14 molecule

NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993

G

CD44 molecule (IN blood group)

protein:decreased expression:jejunum, ileum

NCBI chr 1:30,039,854...30,132,646
Ensembl chr 1:30,039,749...30,132,416

G

complement factor H related 5

CTD Direct Evidence: marker/mechanism

NCBI chr25:32,411,268...32,440,499
Ensembl chr25:32,410,158...32,439,961

G

CF transmembrane conductance regulator

mRNA,Protein:increased expression

NCBI chr21:86,154,313...86,332,436

G

clock circadian regulator

mRNA:increased expression:cholangiocyte

NCBI chr 7:13,015,198...13,134,741
Ensembl chr 7:13,051,454...13,127,240

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:108,777,793...108,815,738
Ensembl chr20:108,813,579...108,814,661

G

collagen type I alpha 1 chain

treatment

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

PMID:21274875 PMID:22094456 PMID:22824087

RGD:8552675 RGD:8552699 RGD:8552776

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

chromosome unknown C4orf19 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr27:12,690,136...12,821,129
Ensembl chr27:12,690,608...12,694,799

G

C-X-C motif chemokine ligand 10

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

NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:8,727,996...8,733,254

G

cytochrome P450 family 27 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:104,682,437...104,723,781
Ensembl chr10:104,682,673...104,726,687

G

cytochrome P450 family 2 subfamily B member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,392,699...35,418,171
Ensembl chr 6:35,393,342...35,418,106

G

cytochrome P450 family 7 subfamily A member 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:9797378 PMID:22461449 PMID:29655695

NCBI chr 8:54,475,801...54,489,329
Ensembl chr 8:54,477,105...54,485,649

G

cytochrome P450 family 7 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:60,496,607...60,691,457
Ensembl chr 8:60,496,733...60,524,238

G

cytochrome P450 family 8 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:4,323,840...4,326,459
Ensembl chr22:4,324,396...4,325,901

G

diacylglycerol O-acyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:66,985,413...67,018,058
Ensembl chr 1:66,985,466...67,021,182

G

DnaJ heat shock protein family (Hsp40) member B9

CTD Direct Evidence: marker/mechanism

NCBI chr21:77,477,177...77,482,190
Ensembl chr21:77,479,112...77,482,571

G

DnaJ heat shock protein family (Hsp40) member C12

CTD Direct Evidence: marker/mechanism

NCBI chr 9:63,545,032...63,588,391
Ensembl chr 9:63,545,045...63,588,401

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

ClinVar Annotator: match by term: Cholestasis

PMID:25741868 PMID:28492532

NCBI chr15:4,164,795...4,228,593
Ensembl chr15:4,164,838...4,228,651

G

endoglin

protein:increased expression:liver (rat)

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

endoplasmic reticulum lectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:53,150,627...53,188,821
Ensembl chr14:53,154,556...53,188,538

G

F2R like thrombin or trypsin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,397,552...15,400,708

G

fibrinogen alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405

G

glucose-6-phosphate dehydrogenase

NCBI chr X:128,768,028...128,788,366
Ensembl chr X:128,770,268...128,786,961

G

growth hormone receptor

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

NCBI chr 4:41,171,038...41,464,474
Ensembl chr 4:41,285,712...41,464,666

G

glutathione S-transferase pi 1

treatment

NCBI chr 1:6,676,897...6,679,936

G

GTP binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,533,531...28,544,055
Ensembl chr17:28,535,410...28,542,932

G

2-hydroxyacyl-CoA lyase 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:60,360,380...60,433,528
Ensembl chr15:60,322,722...60,433,647

G

hydroxyacid oxidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:14,376,096...14,408,753
Ensembl chr20:14,374,543...14,407,992

G

hemojuvelin BMP co-receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,730,106...12,735,230
Ensembl chr20:12,730,912...12,735,255

G

4-hydroxy-2-oxoglutarate aldolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:90,745,969...90,772,953
Ensembl chr 9:90,746,373...90,773,932

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,675,591...27,680,011
Ensembl chr 5:27,676,502...27,679,046

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

inhibitor of DNA binding 4, HLH protein

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,349,908...52,353,218
Ensembl chr17:52,348,388...52,353,281

G

insulin like growth factor 1

CTD Direct Evidence: therapeutic

PMID:12826230 PMID:18607346

NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308

G

interleukin 1 alpha

protein:increased expression:liver

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

interleukin 2

treatment

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 4

NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

inversin

NCBI chr12:39,138,586...39,333,758
Ensembl chr12:39,139,505...39,333,661

G

KN motif and ankyrin repeat domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:78,775,214...79,015,538
Ensembl chr12:78,774,788...78,973,851

G

lysine methyltransferase 2B

mRNA:decreased expression:liver (mouse)

NCBI chr 6:30,626,723...30,648,204
Ensembl chr 6:30,626,848...30,647,883

G

lysosomal associated membrane protein 2

in hemizygote mutant male (LAMP2y/-)

G

glutathione S-transferase Mu 1

treatment

NCBI chr20:23,854,969...23,861,634

G

metalloproteinase inhibitor 1

NCBI chr X:44,759,412...44,763,243
Ensembl chr X:44,760,531...44,765,571

G

cytochrome P450 3A8

disease_progression

NCBI chr28:13,297,566...13,330,023

G

DNA-binding protein inhibitor ID-1

protein:increased expression:liver, nucleus (rat)

NCBI chr 2:36,008,660...36,009,880
Ensembl chr 2:36,008,636...36,010,017

G

lymphocyte antigen 96

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,591,885...69,629,939
Ensembl chr 8:69,591,941...69,630,274

G

monoamine oxidase B

protein:altered activity:hypothalamus (rat)

NCBI chr X:40,936,789...41,054,547
Ensembl chr X:40,936,711...41,054,641

G

mitogen-activated protein kinase 13

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,982,749...35,993,956
Ensembl chr17:35,983,430...35,992,468

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138

G

membrane bound O-acyltransferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,986,557...52,093,262
Ensembl chr17:51,986,755...52,093,340

G

matrix metallopeptidase 2

treatment

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: therapeutic

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

nuclear transcription factor, X-box binding like 1

CTD Direct Evidence: marker/mechanism

NCBI chr27:2,333,158...2,401,008
Ensembl chr27:2,333,809...2,400,084

G

niban apoptosis regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:44,410,245...44,582,260
Ensembl chr25:44,410,318...44,585,424

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12612912 PMID:20626112

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

nitric oxide synthase 3

protein:decreased activity:liver (rat)

NCBI chr21:119,174,829...119,196,840

G

nephrocystin 4

ClinVar Annotator: match by term: Cholestasis

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

NCBI chr20:125,739,075...125,878,088
Ensembl chr20:125,744,295...125,874,482

G

N-acetylneuraminate pyruvate lyase

CTD Direct Evidence: marker/mechanism

NCBI chr25:46,543,645...46,582,700
Ensembl chr25:46,541,401...46,581,767

G

NAD(P)H quinone dehydrogenase 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:22461449 PMID:28337145

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

G

nuclear receptor subfamily 1 group D member 1

NCBI chr16:66,078,990...66,086,927
Ensembl chr16:66,079,089...66,090,685

G

nuclear receptor subfamily 1 group H member 2

CTD Direct Evidence: therapeutic

NCBI chr 6:43,438,428...43,445,190
Ensembl chr 6:43,437,950...43,446,063

G

nuclear receptor subfamily 1 group H member 3

CTD Direct Evidence: therapeutic

NCBI chr 1:18,041,495...18,061,196
Ensembl chr 1:18,041,830...18,051,501

G

nuclear receptor subfamily 1 group H member 4

severity
treatment

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

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

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

NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293

G

nuclear receptor subfamily 1 group I member 2

disease_progression

NCBI chr22:61,005,404...61,043,016
Ensembl chr22:61,006,667...61,040,832

G

nuclear receptor subfamily 1 group I member 3

disease_progression

NCBI chr20:2,724,843...2,752,999
Ensembl chr20:2,744,908...2,756,658

G

ornithine transcarbamylase

protein:decreased activity:liver (rat)

NCBI chr X:35,494,334...35,570,923
Ensembl chr X:35,494,287...35,570,845

G

poly(A) specific ribonuclease subunit PAN2

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,273,867...52,290,514
Ensembl chr11:52,274,540...52,289,410

G

platelet derived growth factor subunit B

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

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

G

prodynorphin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875

G

protein kinase AMP-activated catalytic subunit alpha 1

treatment

mRNA:altered expression:liver (rat)

NCBI chr 4:39,516,307...39,553,627

G

glycogen phosphorylase, muscle associated

mRNA:decreased expression:liver

NCBI chr 1:9,474,539...9,490,612
Ensembl chr 1:9,475,622...9,491,500

G

radixin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:101,554,640...101,647,765
Ensembl chr 1:101,554,334...101,623,093

G

receptor accessory protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr23:16,165,233...16,210,082
Ensembl chr23:16,167,557...16,210,050

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

refilin B

CTD Direct Evidence: marker/mechanism

NCBI chr16:269,395...278,249
Ensembl chr16:271,418...278,115

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500

G

serpin family A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr24:72,369,082...72,388,439
Ensembl chr24:72,381,119...72,384,903

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

solute carrier family 10 member 1

treatment

mRNA:altered expression:liver (rat)

PMID:27090119 PMID:29655695

RGD:15090803 RGD:15090804

NCBI chr24:47,018,237...47,034,360
Ensembl chr24:47,017,414...47,033,940

G

solute carrier family 10 member 7

CTD Direct Evidence: marker/mechanism

NCBI chr 7:92,798,344...93,052,737

G

solute carrier family 16 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:64,023,846...64,123,428
Ensembl chr X:64,023,327...64,125,422

G

solute carrier family 23 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:42,040,163...42,056,593
Ensembl chr23:42,044,590...42,055,831

G

solute carrier family 23 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:33,092,619...33,209,258
Ensembl chr 2:33,128,061...33,212,255

G

solute carrier family 30 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr25:9,654,846...9,671,247
Ensembl chr25:9,655,129...9,668,280

G

solute carrier family 51 member A

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr15:90,953,601...90,970,958
Ensembl chr15:90,949,639...90,970,240

G

SLC51 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr26:18,533,254...18,541,881
Ensembl chr26:18,529,642...18,536,877

G

solute carrier organic anion transporter family member 1A2

treatment

mRNA:altered expression:liver (rat)

NCBI chr11:21,125,711...21,283,748
Ensembl chr11:21,128,062...21,283,796

G

solute carrier organic anion transporter family member 1B3

mRNA, protein:increased expression:hepatocyte

NCBI chr11:20,637,429...20,760,577
Ensembl chr11:20,648,582...20,761,161

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:13,988,059...13,993,780
Ensembl chr 2:13,988,024...13,993,746

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,877,052...113,062,167
Ensembl chr 1:112,877,151...113,058,050

G

sortilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:24,150,210...24,235,518
Ensembl chr20:24,150,300...24,239,503

G

serine peptidase inhibitor, Kunitz type 1

mRNA:increased expression:liver:

NCBI chr26:42,136,749...42,150,125
Ensembl chr26:42,134,536...42,150,118

G

serine peptidase inhibitor, Kunitz type 2

mRNA:increased expression:liver:

NCBI chr 6:32,902,336...32,935,681
Ensembl chr 6:32,902,946...32,939,136

G

signal recognition particle 72

CTD Direct Evidence: marker/mechanism

NCBI chr 7:12,127,817...12,162,992
Ensembl chr 7:12,126,607...12,162,951

G

sulfotransferase family 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:41,809,654...41,852,685
Ensembl chr 6:41,810,049...41,852,681

G

tight junction protein 1

protein:increased expression:liver

NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

transmembrane p24 trafficking protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr23:18,864,021...18,875,089
Ensembl chr23:18,866,758...18,874,975

G

transmembrane protein 117

CTD Direct Evidence: marker/mechanism

NCBI chr11:40,049,469...40,590,373

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

G

ubiquitin like modifier activating enzyme 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:57,596,490...57,613,103
Ensembl chr15:57,592,728...57,612,928

G

ubiquitin specific peptidase 53

ClinVar Annotator: match by term: Cholestasis

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

NCBI chr 7:66,698,816...66,775,650
Ensembl chr 7:66,724,297...66,773,354

G

UTP4 small subunit processome component

North American Indian childhood cirrhosis, OMIM:604901, R565W

NCBI chr 5:58,236,110...58,275,057
Ensembl chr 5:58,234,035...58,275,243

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862

G

villin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:104,311,048...104,350,846
Ensembl chr10:104,320,074...104,347,289

G

VPS33B late endosome and lysosome associated

ARC syndrome, OMIM:208085

NCBI chr29:8,838,289...8,862,914
Ensembl chr29:8,838,735...8,862,977

G

WD repeat domain, phosphoinositide interacting 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:53,096,027...53,133,828
Ensembl chr16:53,096,023...53,135,010

G

xanthine dehydrogenase

protein:alternative form:liver

NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936

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 chr21:61,459,344...61,529,017

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 chr13:37,918,902...38,138,838
Ensembl chr13:37,924,440...38,139,366

G

OFD1 centriole and centriolar satellite protein

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

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

NCBI chr X:12,222,396...12,256,802
Ensembl chr X:12,222,760...12,256,557

G

transmembrane protein 67

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

PMID:19058225 PMID:19574260

RGD:11535944 RGD:11535946

NCBI chr 8:88,726,783...88,818,111
Ensembl chr 8:88,726,837...88,792,049

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 chr27:34,625,701...34,761,873
Ensembl chr27:34,625,105...34,761,745

G

RPGRIP1 like

ClinVar Annotator: match by term: COACH syndrome 1

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

NCBI chr 5:39,388,632...39,487,223
Ensembl chr 5:39,387,107...39,487,092

G

transmembrane protein 67

ClinVar Annotator: match by term: COACH syndrome 1

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

NCBI chr 8:88,726,783...88,818,111
Ensembl chr 8:88,726,837...88,792,049

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 chr27:34,625,701...34,761,873
Ensembl chr27:34,625,105...34,761,745

COACH Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RPGRIP1 like

ClinVar Annotator: match by term: COACH syndrome 3

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

NCBI chr 5:39,388,632...39,487,223
Ensembl chr 5:39,387,107...39,487,092

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 chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704

G

fascin actin-bundling protein 1

mRNA, protein:increased expression: :

NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337

G

mucin-4

protein:increased expression:pancreas

NCBI chr15:91,313,060...91,345,172

G

mesothelin

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

NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757

G

methylthioadenosine phosphorylase

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

NCBI chr15:84,196,548...84,198,357
Ensembl chr12:57,997,427...58,050,241

G

mucin 1, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

mucin 5AC, oligomeric mucus/gel-forming

protein:altered expression:pancreas

NCBI chr 1:981,515...1,018,242

G

thymidine phosphorylase

disease_progression

NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215

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 chr21:106,705,197...106,822,194
Ensembl chr21:106,780,339...106,822,696

G

cytochrome P450 family 7 subfamily B member 1

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

PMID:25741868 PMID:28492532

NCBI chr 8:60,496,607...60,691,457
Ensembl chr 8:60,496,733...60,524,238

congenital bile acid synthesis defect 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition

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

NCBI chr 5:27,675,591...27,680,011
Ensembl chr 5:27,676,502...27,679,046

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 chr21:106,705,197...106,822,194
Ensembl chr21:106,780,339...106,822,696

congenital bile acid synthesis defect 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450 family 7 subfamily B member 1

ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3

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

NCBI chr 8:60,496,607...60,691,457
Ensembl chr 8:60,496,733...60,524,238

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 4:33,221,777...33,244,829
Ensembl chr 4:33,225,754...33,244,836

G

solute carrier family 45 member 2

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

PMID:25741868 PMID:28492532

NCBI chr 4:33,178,614...33,219,664
Ensembl chr 4:33,179,349...33,219,028

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 chr20:38,750,147...38,846,011
Ensembl chr20:38,748,787...38,845,989

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 chr22:19,805,736...19,838,399
Ensembl chr22:19,804,440...19,838,374

extrahepatic bile duct adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

disease_progression

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

polybromo 1

disease_progression

NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254

G

Rac family small GTPase 1

protein:increased expression:mucosa (human)

NCBI chr28:15,583,609...15,610,753
Ensembl chr28:15,583,516...15,610,328

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

extrahepatic bile duct carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551

G

exportin 1

disease_progression

protein:increased expression:extrahepatic bile duct (human)

NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723

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 chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642

G

ATP binding cassette subfamily C member 4 (PEL blood group)

treatment

mRNA:increased expression:liver (rat)

NCBI chr 3:73,821,887...74,106,617
Ensembl chr 3:73,821,134...74,106,579

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651

G

CD68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:74,455,133...74,493,392

G

corticotropin releasing hormone

protein:decreased expression:hypothalamus (rat)

NCBI chr 8:62,052,155...62,056,424
Ensembl chr 8:62,052,592...62,053,182

G

cytoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,140,130...45,151,068
Ensembl chr16:45,140,284...45,151,082

G

cytochrome P450 family 27 subfamily A member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr10:104,682,437...104,723,781
Ensembl chr10:104,682,673...104,726,687

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 chr 8:54,475,801...54,489,329
Ensembl chr 8:54,477,105...54,485,649

G

cytochrome P450 family 8 subfamily B member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr22:4,323,840...4,326,459
Ensembl chr22:4,324,396...4,325,901

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514

G

gap junction protein beta 1

mRNA,protein:decreased expression:liver:

NCBI chr X:61,013,991...61,019,222
Ensembl chr X:61,017,716...61,018,567

G

gap junction protein beta 2

NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,353,333...9,357,765

G

3-hydroxy-3-methylglutaryl-CoA synthase 2

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

NCBI chr20:14,018,669...14,040,934
Ensembl chr20:14,019,692...14,041,016

G

HNF1 homeobox A

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

NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546

G

kelch like ECH associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,515,789...9,526,699
Ensembl chr 6:9,515,416...9,522,797

G

galectin 1

mRNA:increased expression:liver (rat)

NCBI chr19:20,379,144...20,383,303
Ensembl chr19:20,379,003...20,383,464

G

mitogen-activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr13:15,284,927...15,360,539
Ensembl chr13:15,284,923...15,360,832

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461

G

mitogen-activated protein kinase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425

G

mitogen-activated protein kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr23:81,965,330...82,026,414
Ensembl chr23:81,963,899...82,013,659

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:30026087 PMID:31900718

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:119,174,829...119,196,840

G

nuclear receptor subfamily 1 group H member 4

disease_progression
treatment

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

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

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

NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293

G

opioid receptor mu 1

mRNA:decreased expression:hypothalamus, hippocampus

NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088

G

platelet derived growth factor receptor beta

treatment

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

G

pleiotrophin

mRNA:increased expression:liver (rat)

NCBI chr21:105,911,171...106,027,108
Ensembl chr21:105,911,120...106,027,215

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

SET domain containing 7, histone lysine methyltransferase

treatment

NCBI chr 7:86,476,101...86,528,146
Ensembl chr 7:86,481,726...86,527,779

G

solute carrier family 22 member 1

protein:decreased expression:kidney

NCBI chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073

G

solute carrier family 22 member 2

protein:increased expression:kidney

NCBI chr13:87,835,077...87,881,410
Ensembl chr13:87,833,430...87,881,081

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087 PMID:31932644

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

Familial Primary Biliary Cirrhosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tight junction protein 2

ClinVar Annotator: match by term: Familial primary biliary cirrhosis

PMID:25741868 PMID:28492532 PMID:32439973

NCBI chr12:80,224,497...80,358,495
Ensembl chr12:80,307,380...80,358,584

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 chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854

G

glutamate dehydrogenase 1

protein:increased expression:serum

NCBI chr 9:44,653,044...44,690,142
Ensembl chr 9:44,653,289...44,688,954

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 chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099

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:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677

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 chr 8:39,627,766...39,871,329
Ensembl chr 8:39,626,981...39,871,151

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,371,154...80,399,193
Ensembl chr14:80,371,096...80,398,914

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,161,788...55,177,383
Ensembl chr 5:55,161,916...55,180,896

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr26:39,770,288...39,794,252
Ensembl chr26:39,770,664...39,794,173

G

glucose-6-phosphate isomerase

ClinVar Annotator: match by term: Hereditary spherocytosis

NCBI chr 6:29,404,067...29,451,290
Ensembl chr 6:29,403,500...29,453,162

G

KLF transcription factor 1

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

NCBI chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495

G

olfactory receptor 10Z1

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr20:5,316,506...5,318,741

G

solute carrier family 4 member 1 (Diego blood group)

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

PMID:25741868 PMID:28492532 PMID:36231035

NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182

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 chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887

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 chr24:41,957,438...42,038,522
Ensembl chr24:41,978,595...42,038,516

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105

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 chr14:36,343,978...36,450,685
Ensembl chr14:36,344,022...36,449,315

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 chr 8:39,627,766...39,871,329
Ensembl chr 8:39,626,981...39,871,151

G

erythrocyte membrane protein band 4.2

OMIM:182900

NCBI chr26:39,770,288...39,794,252
Ensembl chr26:39,770,664...39,794,173

G

spectrin alpha, erythrocytic 1

OMIM:182900

NCBI chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887

hereditary spherocytosis type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RhoGEF domain containing G3

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

NCBI chr24:41,915,817...41,955,392
Ensembl chr24:41,938,514...41,955,834

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 chr24:41,957,438...42,038,522
Ensembl chr24:41,978,595...42,038,516

hereditary spherocytosis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

olfactory receptor 10Z1

ClinVar Annotator: match by term: Hereditary spherocytosis type 3

NCBI chr20:5,316,506...5,318,741

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 chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887

hereditary spherocytosis type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 4 member 1 (Diego blood group)

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 chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182

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 chr26:39,770,288...39,794,252
Ensembl chr26:39,770,664...39,794,173

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 chr15:84,518,464...84,533,587
Ensembl chr15:84,516,478...84,532,969

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 chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660

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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

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 chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

BRCA1 associated deubiquitinase 1

disease_progression

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

beclin 1

disease_progression

NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322

G

B-Raf proto-oncogene, serine/threonine kinase

severity

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

NCBI chr21:109,495,525...109,690,261

G

Fas ligand

severity

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

forkhead box P3

DNA:hypomethylation:liver

NCBI chr X:46,349,890...46,365,133

G

heat shock protein 90 alpha family class A member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr24:80,016,352...80,019,130
Ensembl chr24:80,016,232...80,019,120

G

heat shock protein 90 alpha family class B member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr17:27,914,261...27,921,666
Ensembl chr17:27,911,013...27,921,251

G

isocitrate dehydrogenase (NADP(+)) 1

no_association

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

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

lysine demethylase 5C

exacerbates

protein:decreased expression:bile duct (human)

NCBI chr X:49,306,472...49,356,151
Ensembl chr X:49,321,173...49,356,100

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations::

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

lipocalin 2

treatment

Protein:increased expression:bile duct

NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870

G

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

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

PMID:22824796 PMID:32463951

RGD:149735894 RGD:14985256

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

LDL receptor related protein 1B

exacerbates

DNA:mutations:multiple: (human)

NCBI chr10:25,611,400...27,511,903
Ensembl chr10:25,616,590...26,609,111

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr22:26,383,310...27,057,081
Ensembl chr22:26,384,511...26,645,528

G

polybromo 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

PMID:27864835 PMID:30377796

RGD:150340628 RGD:152998946

NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254

G

phosphatase and tensin homolog

disease_progression

protein:decreased expression:liver (human)

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

ring finger protein 43

exacerbates

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

NCBI chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107

G

S100 calcium binding protein B

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023

G

SMAD family member 4

disease_progression

mRNA,protein:decreased expression:intrahepatic bile duct

PMID:16917866 PMID:23981608

RGD:18936999 RGD:21066336

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

telomerase associated protein 1

mRNA:increased expression:hepatocyte,biliary epithelium.

NCBI chr29:20,880,255...20,928,874
Ensembl chr29:20,883,678...20,923,313

intrahepatic cholestasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

susceptibility

ClinVar Annotator: match by term: Progressive intrahepatic cholestasis

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

NCBI chr10:54,458,283...54,575,943
Ensembl chr10:54,459,377...54,575,059

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 chr21:61,459,344...61,529,017

G

adaptor related protein complex 1 subunit sigma 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:12,022,376...12,029,435
Ensembl chr28:12,022,201...12,029,181

G

ATPase phospholipid transporting 8B1

susceptibility

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

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

NCBI chr18:21,930,150...22,086,371
Ensembl chr18:21,930,837...22,088,480

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

cytochrome P450 family 2 subfamily E member 1

NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211

G

early growth response 1

CTD Direct Evidence: marker/mechanism

PMID:18364083 PMID:22094456

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

ectonucleoside triphosphate diphosphohydrolase 1

protein:decreased activity,altered location:liver:

NCBI chr 9:88,921,826...89,034,418
Ensembl chr 9:88,922,007...89,032,880

G

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

CBAS1, OMIM:607765

NCBI chr 5:27,675,591...27,680,011
Ensembl chr 5:27,676,502...27,679,046

G

MAF bZIP transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:65,064,715...65,078,972

G

MAF bZIP transcription factor G

CTD Direct Evidence: marker/mechanism

NCBI chr16:73,793,362...73,801,185
Ensembl chr16:73,796,453...73,797,034

G

nuclear receptor subfamily 0 group B member 2

mRNA, protein:increased expression:liver

NCBI chr20:105,850,328...105,853,076
Ensembl chr20:105,850,598...105,853,060

G

nuclear receptor subfamily 1 group H member 4

NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293

G

solute carrier family 22 member 1

mRNA, protein:decreased expression:liver

NCBI chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073

G

solute carrier family 22 member 2

mRNA, protein:decreased expression:kidney

NCBI chr13:87,835,077...87,881,410
Ensembl chr13:87,833,430...87,881,081

G

tight junction protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:80,224,497...80,358,495
Ensembl chr12:80,307,380...80,358,584

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 chr21:61,459,344...61,529,017

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,930,150...22,086,371
Ensembl chr18:21,930,837...22,088,480

G

histone deacetylase 3

severity

NCBI chr23:44,246,296...44,263,127

G

interleukin 18

severity

NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862

intrahepatic cholestasis of pregnancy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

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

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

NCBI chr18:21,930,150...22,086,371
Ensembl chr18:21,930,837...22,088,480

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 chr10:54,458,283...54,575,943
Ensembl chr10:54,459,377...54,575,059

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 chr21:61,459,344...61,529,017

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 chr17:20,411,746...20,873,601

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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

AT-rich interaction domain 1A

disease_progression

DNA:deletions

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

GATA binding protein 6

sexual_dimorphism

DNA:mutations

NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746

G

lysine methyltransferase 2C

onset

DNA:mutations

NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VPS50 subunit of EARP/GARPII complex

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

PMID:25741868 PMID:34037727

NCBI chr21:55,660,565...55,782,188
Ensembl chr21:55,660,311...55,782,167

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 5:58,236,110...58,275,057
Ensembl chr 5:58,234,035...58,275,243

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 chr21:61,459,344...61,529,017

G

adrenomedullin

protein:increased expression:plasma:

NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686

G

albumin

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

C-C motif chemokine ligand 2

treatment

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

CD14 molecule

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

NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993

G

complement factor H

protein:decreased expression:plasma:

NCBI chr25:32,557,697...32,744,763

G

glutamic--pyruvic transaminase

NCBI chr 8:138,716,802...138,721,421
Ensembl chr 8:138,718,767...138,721,251

G

hydroxymethylbilane synthase

Protein:increased activity:liver (rat)

NCBI chr 1:110,457,799...110,466,361
Ensembl chr 1:110,457,537...110,466,095

G

high mobility group box 1

protein:increased expression:liver, plasma

NCBI chr 3:9,353,333...9,357,765

G

interferon regulatory factor 5

mRNA,protein:increased expression:liver,nucleus:

NCBI chr21:97,536,803...97,549,576
Ensembl chr21:97,537,790...97,549,945

G

lipopolysaccharide binding protein

mRNA:increased expression:liver

NCBI chr 2:25,375,364...25,407,181
Ensembl chr 2:25,374,755...25,406,839

G

proliferating cell nuclear antigen

treatment

NCBI chr 2:32,936,600...32,953,635
Ensembl chr 2:32,948,196...32,953,991

G

toll like receptor 2

treatment

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

uncoupling protein 2

NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450

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 chr29:8,908,381...8,932,555
Ensembl chr29:8,908,141...8,923,031

periampullary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Periampullary adenoma

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

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

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 chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642

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 chr21:61,459,344...61,529,017

G

ATP binding cassette subfamily C member 2

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

PMID:15542527 PMID:15770136

NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

G

ATP binding cassette subfamily G member 2 (JR blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 7:36,458,110...36,599,753

G

angiotensin converting enzyme 2

mRNA, protein:increased expression:liver

NCBI chr X:14,032,231...14,094,163
Ensembl chr X:14,030,233...14,077,785

G

angiotensinogen

protein:increased expression:plasma

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

aquaporin 4

NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156

G

carbonic anhydrase 1

NCBI chr 8:80,699,114...80,729,932
Ensembl chr 8:80,699,651...80,712,858

G

carbonic anhydrase 2

NCBI chr 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707

G

C-C motif chemokine ligand 5

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

PMID:12126966 PMID:15770052

NCBI chr16:29,351,214...29,361,317

G

cellular communication network factor 2

mRNA:increased expression:liver (rat)

NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651

G

CD14 molecule

disease_progression

protein:increased expression:liver (human)

NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993

G

CD3d molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:109,715,148...109,719,576
Ensembl chr 1:109,713,017...109,719,950

G

CD68 molecule

disease_progression

protein:increased expression:liver (human)

NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042

G

CD80 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr22:61,258,281...61,294,772

G

cadherin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:52,059,987...52,098,595
Ensembl chr 5:52,060,013...52,100,405

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

centromere protein B

NCBI chr 2:34,469,577...34,472,261
Ensembl chr 2:34,470,410...34,472,221

G

C-type lectin domain containing 16A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:10,420,866...10,658,370
Ensembl chr 5:10,420,931...10,658,507

G

collagen type I alpha 1 chain

treatment

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

cytoplasmic polyadenylation element binding protein 1

protein:increased expression:liver

NCBI chr29:3,005,891...3,106,732
Ensembl chr29:3,006,532...3,106,793

G

cytoplasmic polyadenylation element binding protein 4

protein:increased expression:liver

NCBI chr23:76,039,118...76,110,564
Ensembl chr23:76,040,516...76,106,360

G

cytotoxic T-lymphocyte associated protein 4

no_association
susceptibility
disease_progression

DNA:SNP:CDS:49A>G(human)
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)

PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562

RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

C-X-C motif chemokine ligand 10

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130

G

C-X-C motif chemokine ligand 8

mRNA:increased expression:liver (human)

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

C-X-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121

G

C-X-C motif chemokine receptor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:110,253,792...110,267,251
Ensembl chr 1:110,254,723...110,265,597

G

cytoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,140,130...45,151,068
Ensembl chr16:45,140,284...45,151,082

G

dystroglycan 1

mRNA:increased expression:liver

NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200

G

DENN domain containing 1B

CTD Direct Evidence: marker/mechanism

NCBI chr25:31,633,876...31,908,207
Ensembl chr25:31,640,823...31,907,365

G

deoxyribonuclease 1

protein:decreased activity:serum (human)

NCBI chr 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870

G

ectonucleoside triphosphate diphosphohydrolase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,137,500...1,142,798
Ensembl chr12:1,137,495...1,143,231

G

forkhead box P3

mRNA:increased expression:liver

NCBI chr X:46,349,890...46,365,133

G

GTP cyclohydrolase 1

treatment

NCBI chr24:32,029,997...32,079,656
Ensembl chr24:32,027,648...32,079,490

G

hepcidin antimicrobial peptide

treatment

mRNA:decreased expression:liver

PMID:19652645 PMID:23704825

RGD:11041639 RGD:11041732

NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996

G

hedgehog interacting protein

mRNA:decreased expression:

NCBI chr 7:91,216,874...91,311,392
Ensembl chr 7:91,216,955...91,310,387

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288

G

heme oxygenase 1

mRNA, protein:increased expression:liver, lung