bile duct disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

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

bile duct disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor III, tissue factor

mRNA:increased expression:liver

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

ferrochelatase

CTD Direct Evidence: marker/mechanism

NCBI chr18:50,934,520...50,977,132
Ensembl chr18:54,273,527...54,312,378

G

MAGE family member E1

CTD Direct Evidence: marker/mechanism

NCBI chr X:65,654,865...65,658,586
Ensembl chr X:75,769,619...75,772,870

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 chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502

Alagille syndrome

term browser

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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 chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

G

notch receptor 2

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

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

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

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 chr20:9,980,794...10,002,580
Ensembl chr20:9,981,431...10,002,265

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 chr20:7,856,967...7,914,818
Ensembl chr20:7,633,861...7,695,120

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 chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

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 chr20:9,487,971...9,503,912
Ensembl chr20:9,489,849...9,506,137

G

uncharacterized LOC129394934

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

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532

G

uncharacterized LOC129394935

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

PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532

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 chr20:10,346,252...10,380,180
Ensembl chr20:10,351,309...10,366,863

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 chr20:9,510,789...9,812,689
Ensembl chr20:9,513,009...9,619,750

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 chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019

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 chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443

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 chr20:10,380,226...10,570,766
Ensembl chr20:10,381,239...10,572,296

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 chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841

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 chr20:7,951,311...7,993,682
Ensembl chr20:7,735,655...7,773,982

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 chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

ARC syndrome

term browser

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Object Name

Qualifiers

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

PMID:20190753 PMID:25741868

NCBI chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382

G

VPS33B late endosome and lysosome associated

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

PMID:25741868 PMID:28492532

NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327

arthrogryposis, renal dysfunction, and cholestasis 1

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

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

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

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 chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382

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 chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327

arthrogryposis, renal dysfunction, and cholestasis 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

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

NCBI chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382

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 chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196

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 chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379

bile duct adenocarcinoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

bile duct adenoma

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

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

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 chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

mutL homolog 1

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

mutS homolog 2

ClinVar Annotator: match by term: Bile duct cancer

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Bile duct cancer

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

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

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 chr16:604,366...605,560

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:28492532

Ensembl chr19:1,188,537...1,210,677

G

tight junction protein 1

protein:decreased expression:bile duct

NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878

bile duct carcinoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesothelin

protein:increased expression:bile duct

Ensembl chr16:777,146...783,449

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

Bile Duct Neoplasms

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aspartate beta-hydroxylase

mRNA:increased expression:bile duct

NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658

G

epidermal growth factor receptor

CTD Direct Evidence: therapeutic

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile duct

NCBI chr 7:5,848,902...5,862,756

G

interleukin 6

disease_progression

protein:increased expression:serum

NCBI chr 7:23,415,922...23,420,767

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:intrahepatic bile duct (human)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

O-6-methylguanine-DNA methyltransferase

severity

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

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

marker of proliferation Ki-67

disease_progression

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

mucin 16, cell surface associated

protein:increased expression:serum,bile

NCBI chr19:8,416,393...8,568,418

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr 3:193,050,895...193,114,931

G

neural cell adhesion molecule 1

disease_progression

PMID:8501910 PMID:9851639

RGD:2326076 RGD:2326077

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

CD14 molecule

disease_progression

mRNA, protein:increased expression:liver, plasma:

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

delta like non-canonical Notch ligand 1

NCBI chr14:81,348,380...81,356,607
Ensembl chr14:100,654,965...100,668,019

G

gamma-glutamyltransferase 1

disease_progression

NCBI chr22:5,424,334...5,469,705

G

GLI family zinc finger 2

disease_progression

NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442

G

hepcidin antimicrobial peptide

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861

G

intercellular adhesion molecule 1

susceptibility

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

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interleukin 18

susceptibility

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

PMID:10726686 PMID:30059753

RGD:14695528 RGD:14695529

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

phosphatase and tensin homolog

mRNA:decreased expression:liver (human)

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

sonic hedgehog signaling molecule

disease_progression

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

G

SRY-box transcription factor 17

NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808

G

serine peptidase inhibitor, Kunitz type 1

disease_progression

mRNA,protein:increased expression:liver:

NCBI chr15:19,786,621...19,800,297
Ensembl chr15:38,036,638...38,050,303

G

serine peptidase inhibitor, Kunitz type 2

mRNA,protein:increased expression:liver:

NCBI chr19:35,354,043...35,384,063
Ensembl chr19:43,928,847...43,958,886

G

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

transforming growth factor beta 1

treatment

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

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 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

intraflagellar transport 56

ClinVar Annotator: match by term: Caroli disease

PMID:25741868 PMID:31595528 PMID:32617964

NCBI chr 7:131,092,241...131,150,109
Ensembl chr 7:143,579,500...143,636,362

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ClinVar Annotator: match by term: Caroli disease

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

NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309

G

WD repeat domain 19

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

NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903

Caroli syndrome

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309

cholangiocarcinoma

term browser

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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 chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

adrenoceptor beta 2

protein:decreased expression:liver

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

albumin

disease_progression

PMID:10776430 PMID:17545000 PMID:20431764

RGD:2325679 RGD:2325680 RGD:2325682

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

arachidonate 5-lipoxygenase

protein:increased expression:bile duct

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

annexin A2

disease_progression

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

APC regulator of WNT signaling pathway

DNA:hypermethylation:promoter
DNA:loss of heterozygosity

PMID:10212000 PMID:15467712

RGD:2317198 RGD:2317205

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

apolipoprotein A1

protein:decreased expression:serum

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

aspartate beta-hydroxylase

NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658

G

autophagy related 101

disease_progression

NCBI chr12:36,685,897...36,693,613
Ensembl chr12:37,462,533...37,470,062

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:25231345

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

baculoviral IAP repeat containing 6

ameliorates

mRNA:increased expression:bile duct (human)

NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

cyclin dependent kinase inhibitor 2A

onset

protein:decreased expression:liver

NCBI chr 9:21,803,862...21,831,322

G

C-X-C motif chemokine ligand 8

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890

G

cytochrome P450 family 24 subfamily A member 1

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

NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716

G

epidermal growth factor

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868 PMID:28492532

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erythropoietin

mRNA, protein:increased expression:liver

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

erythropoietin receptor

mRNA, protein:increased expression:liver

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

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 chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

Fas ligand

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

fibroblast growth factor 2

protein:increased expression:bile

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile ducts

NCBI chr 7:5,848,902...5,862,756

G

GNAS complex locus

disease_progression

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

PMID:17356712 PMID:22561520

NCBI chr20:55,190,607...55,262,245

G

glutathione S-transferase mu 1

Ensembl chr 1:127,979,238...128,010,411

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 chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

histone deacetylase 6

protein:increased expression:liver:

NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642

G

hepatocyte growth factor

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

PMID:10827151 PMID:16974053

RGD:2317909 RGD:2317925

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

hypoxia inducible factor 1 subunit alpha

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

interleukin 10

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 19

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748

G

interleukin 1 beta

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor type 2

disease_progression

mRNA:altered expression:liver (human)

Ensembl chr2A:103,042,328...103,078,190

G

interleukin 4 receptor

mRNA:increased expression:bile duct

Ensembl chr16:27,642,702...27,737,445

G

interleukin 6

ClinVar Annotator: match by term: Cholangiocarcinoma

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

NCBI chr 7:23,415,922...23,420,767

G

insulin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

potassium voltage-gated channel subfamily D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430

G

KIT proto-oncogene, receptor tyrosine kinase

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:8968066 PMID:22561520

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

keratin 7

NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341

G

cytochrome c

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

G

paternally-expressed gene 3 protein

CTD Direct Evidence: marker/mechanism

NCBI chr19:53,830,193...53,860,760
Ensembl chr19:62,588,511...62,654,661

G

serine protease 2

protein:increased expression:serum

NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587

G

MDM2 proto-oncogene

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

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

PMID:14656942 PMID:16818635

RGD:2317578 RGD:2317601

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

major facilitator superfamily domain containing 4A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 1:181,177,517...181,211,432
Ensembl chr 1:185,474,032...185,497,408

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

marker of proliferation Ki-67

disease_progression

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:bile duct

PMID:15213623 PMID:19629755

RGD:2324667 RGD:2325769

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

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

PMID:15213623 PMID:16463672

RGD:2324667 RGD:2325856

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mesothelin

CTD Direct Evidence: marker/mechanism

Ensembl chr16:777,146...783,449

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mucin 1, cell surface associated

disease_progression

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

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

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

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 16, cell surface associated

associated with Opisthorchiasis;protein:increased expression:serum

NCBI chr19:8,416,393...8,568,418

G

mucin 2, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741

G

mucin 3A, cell surface associated

mRNA:decreased expression:bile duct

NCBI chr 7:92,974,006...92,993,990

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

PMID:14752841 PMID:19082442

RGD:2303602 RGD:2324944

NCBI chr 3:193,050,895...193,114,931

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 chr11:1,191,223...1,234,373

G

mucin 5B, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

G

mucin 6, oligomeric mucus/gel-forming

protein:increased expression: :

NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927

G

N-acetyltransferase 2

DNA:polymorphisms (human)

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

neural cell adhesion molecule 1

associated with hepatitis

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

nitric oxide synthase 2

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

PMID:16094703 PMID:16818635

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

notch receptor 1

protein:increased expression:cholangiocyte

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

nuclear receptor subfamily 1 group H member 4

disease_progression

mRNA:decreased expression:liver (rat)

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

8-oxoguanine DNA glycosylase

disease_progression

DNA:loss of heterozygosity (human)

PMID:11260864 PMID:11866974

RGD:2317134 RGD:2317136

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

oxysterol binding protein 2

mRNA:increased expression:blood

NCBI chr22:11,719,017...11,933,841
Ensembl chr22:29,520,479...29,733,061

G

oxysterol binding protein like 7

mRNA:increased expression:blood

NCBI chr17:9,715,464...9,729,950
Ensembl chr17:9,897,768...9,912,065

G

pannexin 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr22:30,398,717...30,408,358
Ensembl chr22:49,404,624...49,408,045

G

pro-apoptotic WT1 regulator

mRNA,protein:decreased expression:cholangiocyte:

NCBI chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796

G

polybromo 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

G

pescadillo ribosomal biogenesis factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,604,897...11,620,187
Ensembl chr22:29,406,095...29,420,868

G

pirin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr X:8,011,382...8,121,994
Ensembl chr X:15,294,099...15,404,004

G

peptidylprolyl isomerase A

ameliorates

human cell line and construct in a mouse model

NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545

G

protein phosphatase 3 catalytic subunit alpha

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253

G

proline rich and Gla domain 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr11:32,790,274...32,816,067
Ensembl chr11:32,678,175...32,702,862

G

serine protease 56

disease_progression

mRNA:altered expression:liver (human)

NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

PMID:23376645 PMID:27022031

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin-endoperoxide synthase 2

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

Ras association domain family member 8

disease_progression

mRNA:altered expression:liver (human)

NCBI chr12:60,246,885...60,361,888
Ensembl chr12:62,867,015...62,880,512

G

ring finger protein 39

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 6:29,848,055...29,853,659

G

ring finger protein 43

exacerbates

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

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

G

roundabout guidance receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309

G

RUNX family transcription factor 3

protein:decreased expression:bile duct

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

G

solute carrier family 4 member 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 4:52,659,221...52,994,053
Ensembl chr 4:59,002,200...59,385,608

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

solute carrier family 7 member 5

disease_progression
treatment

PMID:24131658 PMID:25475870 PMID:28347255

RGD:151361214 RGD:151361287 RGD:151361294

NCBI chr16:68,512,407...68,552,763

G

SMAD family member 4

CTD Direct Evidence: marker/mechanism

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

suppressor of cytokine signaling 3

severity

protein:decreased expression:bile duct (human)

NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066

G

SRY-box transcription factor 17

severity

NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808

G

SRY-box transcription factor 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

transforming growth factor beta 1

disease_progression

protein:increased expression:pancreas

PMID:12632524 PMID:16083599

RGD:1299231 RGD:2325020

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta receptor 2

mRNA:increased expression:bile duct

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

thrombospondin 1

disease_progression

DNA:hypermethylation (human)

PMID:11927969 PMID:12213730 PMID:16465407

RGD:2325024 RGD:2325026 RGD:2325027

NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170

G

tenascin C

severity

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

G

TNF alpha induced protein 3

severity

protein:increased expression:bile duct (human)

NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:16818635 PMID:22561520

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

transthyretin

protein:decreased expression:blood serum (human)

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

G

vascular endothelial growth factor A

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

WD repeat and HMG-box DNA binding protein 1

ameliorates

NCBI chr14:35,528,981...35,614,145
Ensembl chr14:53,807,684...53,889,703

G

Wnt family member 9A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 1:203,320,990...203,350,599
Ensembl chr 1:208,300,609...208,327,191

Cholangiofibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 ligand

treatment

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

glutathione S-transferase pi 1

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

isocitrate dehydrogenase (NADP(+)) 1

severity

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

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

cholangitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580

G

C-C motif chemokine ligand 2

treatment

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

integrin subunit beta 6

CTD Direct Evidence: marker/mechanism

NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,788,355...15,793,127
Ensembl chr17:16,006,608...16,010,782

G

mucin-17

mRNA:increased expression:bile duct

NCBI chr 7:93,178,939...93,198,279

G

uncharacterized LOC100974886

treatment

NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555

G

NRAS proto-oncogene, GTPase

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

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

G

toll like receptor 2

disease_progression

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

vitamin D receptor

mRNA,protein:decreased expression:liver

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

cholecystitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

OMIM:600803

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

protection of telomeres 1

mRNA:decreased expression:gall bladder

NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

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 chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141

G

CF transmembrane conductance regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

PMID:15830394 PMID:18988797

NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309

G

secretin

CTD Direct Evidence: marker/mechanism

NCBI chr11:632,073...634,296

G

solute carrier family 4 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919

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 chr14:84,711,400...84,739,769
Ensembl chr14:104,517,278...104,544,589

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

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

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

NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379

G

ATP binding cassette subfamily B member 4

DNA:mutations: :

PMID:11680581 PMID:26324191

RGD:11565494 RGD:1598589

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

ATP binding cassette subfamily C member 2

disease_progression
treatment

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

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

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

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

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

Ensembl chr17:49,603,268...49,659,318

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 chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058

G

ATP binding cassette subfamily G member 5

NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

G

ATP binding cassette subfamily G member 8

NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830

G

angiotensin I converting enzyme

mRNA:increased expression:liver (rat)

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

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

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

alcohol dehydrogenase 5 (class III), chi polypeptide

mRNA, protein:decreased expression:liver

NCBI chr 4:91,470,304...91,487,854
Ensembl chr 4:102,134,375...102,151,902

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

albumin

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

aldehyde dehydrogenase 1 family member B1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,239,413...38,244,751
Ensembl chr 9:39,164,392...39,165,945

G

aldehyde dehydrogenase 1 family member L1

treatment

NCBI chr 3:123,166,630...123,244,257
Ensembl chr 3:130,484,862...130,562,934

G

aldehyde dehydrogenase 8 family member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:132,685,904...132,732,194
Ensembl chr 6:136,782,957...136,815,611

G

apolipoprotein C3

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

apolipoprotein E

associated with Pancreatic Neoplasms;protein:increased expression:plasma

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

arginase 1

protein:altered activity:liver (rat)

NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162

G

branched chain amino acid transaminase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463

G

brain expressed X-linked 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:92,443,028...92,445,129
Ensembl chr X:102,823,255...102,823,617

G

biliverdin reductase A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:40,444,095...40,492,972
Ensembl chr 7:40,489,360...40,526,132

G

basic helix-loop-helix ARNT like 1

mRNA:increased expression:cholangiocyte

NCBI chr11:13,436,580...13,547,135
Ensembl chr11:13,163,028...13,240,376

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:4,327,813...4,347,053
Ensembl chr21:17,693,067...17,712,280

G

chromosome 3 C4orf19 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 4:31,781,515...31,922,413
Ensembl chr 4:37,742,659...37,808,076

G

calcium dependent secretion activator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:114,328,933...114,896,388
Ensembl chr 7:127,014,772...127,579,249

G

catalase

CTD Direct Evidence: marker/mechanism

PMID:21339256 PMID:27989131

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

CD14 molecule

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CD44 molecule (IN blood group)

protein:decreased expression:jejunum, ileum

NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009

G

complement factor H related 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:172,541,948...172,574,591
Ensembl chr 1:176,876,635...176,908,723

G

CF transmembrane conductance regulator

mRNA,Protein:increased expression

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

clock circadian regulator

mRNA:increased expression:cholangiocyte

NCBI chr 4:68,391,310...68,509,813
Ensembl chr 4:75,018,898...75,066,726

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,017,141...86,044,889

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090

G

collagen type I alpha 1 chain

treatment

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

PMID:21274875 PMID:22094456 PMID:22824087

RGD:8552675 RGD:8552699 RGD:8552776

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

ceruloplasmin

protein:increased expression:serum

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

G

C-X-C motif chemokine ligand 10

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

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447

G

cytochrome P450 family 27 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474

G

cytochrome P450 family 2 subfamily B member 6

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672

G

cytochrome P450 family 3 subfamily A member 4

disease_progression

NCBI chr 7:91,797,037...91,824,696
Ensembl chr 7:105,230,666...105,258,401

G

cytochrome P450 family 7 subfamily A member 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:9797378 PMID:22461449 PMID:29655695

NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037

G

cytochrome P450 family 7 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386

G

cytochrome P450 family 8 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716

G

diacylglycerol O-acyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854

G

DnaJ heat shock protein family (Hsp40) member B9

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,555,527...100,560,052
Ensembl chr 7:113,274,015...113,279,105

G

DnaJ heat shock protein family (Hsp40) member C12

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,276,057...64,317,903
Ensembl chr10:66,589,119...66,630,117

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

ClinVar Annotator: match by term: Cholestasis

PMID:25741868 PMID:28492532

NCBI chr 3:182,228,520...182,319,339
Ensembl chr 3:190,704,695...190,796,075

G

endoglin

protein:increased expression:liver (rat)

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

endoplasmic reticulum lectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:53,930,280...53,962,178
Ensembl chr2A:54,842,228...54,874,068

G

F2R like thrombin or trypsin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:16,375,572...16,379,587
Ensembl chr19:17,355,542...17,357,628

G

fibrinogen alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 4:146,949,680...146,957,291

G

glucose-6-phosphate dehydrogenase

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

growth hormone receptor

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

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

glutathione S-transferase mu 1

treatment

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

treatment

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

GTP binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,210,517...43,219,296
Ensembl chr 6:44,500,159...44,511,300

G

2-hydroxyacyl-CoA lyase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982

G

hydroxyacid oxidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,160,326...83,185,688
Ensembl chr 1:118,157,037...118,182,957

G

hemojuvelin BMP co-receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761

G

4-hydroxy-2-oxoglutarate aldolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,204,627...94,233,312

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

inhibitor of DNA binding 1

protein:increased expression:liver, nucleus (rat)

NCBI chr20:27,895,177...27,896,414
Ensembl chr20:28,535,582...28,536,311

G

inhibitor of DNA binding 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:19,665,197...19,668,517

G

insulin like growth factor 1

CTD Direct Evidence: therapeutic

PMID:12826230 PMID:18607346

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

interleukin 1 alpha

protein:increased expression:liver

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 2

treatment

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 4

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

inversin

NCBI chr 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260

G

KN motif and ankyrin repeat domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:550,713...556,230

G

lysine methyltransferase 2B

mRNA:decreased expression:liver (mouse)

NCBI chr19:32,647,815...32,668,656
Ensembl chr19:41,382,458...41,402,695

G

lysosomal associated membrane protein 2

in hemizygote mutant male (LAMP2y/-)

NCBI chr X:109,700,185...109,743,579
Ensembl chr X:119,886,982...119,929,896

G

uncharacterized LOC100974886

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555

G

solute carrier organic anion transporter family member 1B3

mRNA, protein:increased expression:hepatocyte

NCBI chr12:65,386,042...65,492,240

G

lymphocyte antigen 96

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,525,058...70,567,839
Ensembl chr 8:72,169,986...72,207,372

G

monoamine oxidase B

protein:altered activity:hypothalamus (rat)

NCBI chr X:36,217,710...36,333,516
Ensembl chr X:44,042,000...44,157,941

G

mitogen-activated protein kinase 13

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,689,475...35,711,990
Ensembl chr 6:36,890,974...36,899,388

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114

G

membrane bound O-acyltransferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:19,925,886...20,037,235
Ensembl chr 6:20,275,614...20,386,771

G

matrix metallopeptidase 2

treatment

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: therapeutic

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

nuclear transcription factor, X-box binding like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:74,234,523...74,301,966
Ensembl chr 4:84,967,076...85,034,154

G

niban apoptosis regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:160,320,707...160,497,649
Ensembl chr 1:164,479,202...164,581,494

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12612912 PMID:20626112

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

protein:decreased activity:liver (rat)

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

nephrocystin 4

ClinVar Annotator: match by term: Cholestasis

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

NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864

G

N-acetylneuraminate pyruvate lyase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:158,305,203...158,346,531
Ensembl chr 1:161,958,896...161,997,222

G

NAD(P)H quinone dehydrogenase 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:22461449 PMID:28337145

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

nuclear receptor subfamily 1 group D member 1

NCBI chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600

G

nuclear receptor subfamily 1 group H member 2

CTD Direct Evidence: therapeutic

NCBI chr19:47,340,077...47,346,737
Ensembl chr19:56,243,124...56,250,024

G

nuclear receptor subfamily 1 group H member 3

CTD Direct Evidence: therapeutic

NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672

G

nuclear receptor subfamily 1 group H member 4

treatment
severity

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

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

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

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

nuclear receptor subfamily 1 group I member 2

disease_progression

NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129

G

nuclear receptor subfamily 1 group I member 3

disease_progression

NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799

G

ornithine transcarbamylase

protein:decreased activity:liver (rat)

NCBI chr X:30,796,828...30,868,144
Ensembl chr X:38,505,232...38,575,819

G

poly(A) specific ribonuclease subunit PAN2

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,581,728...32,598,445
Ensembl chr12:32,835,235...32,853,645

G

platelet derived growth factor subunit B

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

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

prodynorphin

CTD Direct Evidence: marker/mechanism

NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

protein kinase AMP-activated catalytic subunit alpha 1

treatment

mRNA:altered expression:liver (rat)

NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505

G

glycogen phosphorylase, muscle associated

mRNA:decreased expression:liver

NCBI chr11:60,101,810...60,115,813
Ensembl chr11:63,443,609...63,457,430

G

radixin

CTD Direct Evidence: marker/mechanism

NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557

G

receptor accessory protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:108,236,654...108,280,724

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

refilin B

CTD Direct Evidence: marker/mechanism

NCBI chr17:359,016...367,464
Ensembl chr17:375,885...381,580

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

serpin family A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:75,205,446...75,217,114
Ensembl chr14:94,537,115...94,548,803

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

solute carrier family 10 member 1

treatment

mRNA:altered expression:liver (rat)

PMID:27090119 PMID:29655695

RGD:15090803 RGD:15090804

NCBI chr14:50,369,663...50,390,984
Ensembl chr14:69,240,602...69,261,904

G

solute carrier family 10 member 7

CTD Direct Evidence: marker/mechanism

NCBI chr 4:138,592,266...138,857,833
Ensembl chr 4:150,251,966...150,510,812

G

solute carrier family 16 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:63,673,992...63,787,011
Ensembl chr X:73,791,200...73,903,727

G

solute carrier family 23 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,737,344...134,756,153
Ensembl chr 5:140,859,984...140,877,214

G

solute carrier family 23 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,874,185...5,024,750
Ensembl chr20:4,670,294...4,790,800

G

solute carrier family 30 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228

G

solute carrier family 51 member A

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr 3:193,554,592...193,573,984
Ensembl chr 3:203,504,092...203,521,354

G

SLC51 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:16423920 PMID:22461449

NCBI chr15:43,988,512...43,992,939
Ensembl chr15:62,268,738...62,277,160

G

solute carrier organic anion transporter family member 1A2

treatment

mRNA:altered expression:liver (rat)

NCBI chr12:64,963,090...65,029,673
Ensembl chr12:67,566,066...67,632,608

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432

G

sortilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,687,119...111,775,339

G

serine peptidase inhibitor, Kunitz type 1

mRNA:increased expression:liver:

NCBI chr15:19,786,621...19,800,297
Ensembl chr15:38,036,638...38,050,303

G

serine peptidase inhibitor, Kunitz type 2

mRNA:increased expression:liver:

NCBI chr19:35,354,043...35,384,063
Ensembl chr19:43,928,847...43,958,886

G

signal recognition particle 72

CTD Direct Evidence: marker/mechanism

NCBI chr 4:67,420,551...67,456,065
Ensembl chr 4:73,989,304...74,025,906

G

sulfotransferase family 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407

G

TIMP metallopeptidase inhibitor 1

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

G

tight junction protein 1

protein:increased expression:liver

NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

transmembrane p24 trafficking protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:110,970,162...110,983,414
Ensembl chr 5:116,766,470...116,779,513

G

transmembrane protein 117

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,344,887...44,895,824
Ensembl chr12:45,213,440...45,757,058

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

ubiquitin like modifier activating enzyme 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147

G

ubiquitin specific peptidase 53

ClinVar Annotator: match by term: Cholestasis

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

NCBI chr 4:111,407,037...111,483,541
Ensembl chr 4:121,984,659...122,031,531

G

UTP4 small subunit processome component

North American Indian childhood cirrhosis, OMIM:604901, R565W

NCBI chr16:49,503,732...49,540,124
Ensembl chr16:68,891,923...68,927,421

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

villin 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550

G

VPS33B late endosome and lysosome associated

ARC syndrome, OMIM:208085

NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327

G

WD repeat domain, phosphoinositide interacting 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:62,357,952...62,394,620
Ensembl chr17:67,748,201...67,784,389

G

xanthine dehydrogenase

protein:alternative form:liver

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

chronic cholangitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

COACH syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Abelson helper integration site 1

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

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

NCBI chr 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232

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:6,296,597...6,376,197
Ensembl chr X:13,611,304...13,664,512

G

transmembrane protein 67

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

PMID:19058225 PMID:19574260

RGD:11535944 RGD:11535946

NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437

COACH Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil and C2 domain containing 2A

ClinVar Annotator: match by term: COACH syndrome 1

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

NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281

G

RPGRIP1 like

ClinVar Annotator: match by term: COACH syndrome 1

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

NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174

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 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437

COACH Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil and C2 domain containing 2A

ClinVar Annotator: match by term: COACH syndrome 2

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

NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281

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 chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174

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 chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

fascin actin-bundling protein 1

mRNA, protein:increased expression: :

NCBI chr 7:5,848,902...5,862,756

G

mesothelin

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

Ensembl chr16:777,146...783,449

G

methylthioadenosine phosphorylase

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

NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218

G

mucin 1, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 4, cell surface associated

protein:increased expression:pancreas

NCBI chr 3:193,050,895...193,114,931

G

mucin 5AC, oligomeric mucus/gel-forming

protein:altered expression:pancreas

NCBI chr11:1,191,223...1,234,373

G

thymidine phosphorylase

disease_progression

NCBI chr22:30,772,088...30,776,618

congenital bile acid synthesis defect

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1 member D1

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

NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331

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 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386

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 chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803

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 chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331

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 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386

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 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003

G

solute carrier family 45 member 2

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

PMID:25741868 PMID:28492532

NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565

congenital bile acid synthesis defect 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 3

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

PMID:25168382 PMID:25741868 PMID:28492532

NCBI chr 1:97,079,326...97,179,886
Ensembl chr 1:95,808,027...95,907,864

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 chr 3:58,442,532...58,474,601
Ensembl chr 3:59,852,771...59,884,548

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 chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

polybromo 1

disease_progression

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

G

Rac family small GTPase 1

protein:increased expression:mucosa (human)

NCBI chr 7:7,039,379...7,068,866

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

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 chr16:604,366...605,560

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

G

exportin 1

disease_progression

protein:increased expression:extrahepatic bile duct (human)

NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793

extrahepatic cholestasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

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

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

G

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

treatment

mRNA:increased expression:liver (rat)

NCBI chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

CD68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:31932644

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

corticotropin releasing hormone

protein:decreased expression:hypothalamus (rat)

NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009

G

cytoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr17:70,475,651...70,485,987
Ensembl chr17:76,167,947...76,179,412

G

cytochrome P450 family 27 subfamily A member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474

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 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037

G

cytochrome P450 family 8 subfamily B member 1

treatment

mRNA:decreased expression:liver (rat)

NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

gap junction protein beta 1

mRNA,protein:decreased expression:liver:

NCBI chr X:60,490,579...60,492,606
Ensembl chr X:70,547,110...70,547,961

G

gap junction protein beta 2

NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527

G

3-hydroxy-3-methylglutaryl-CoA synthase 2

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

NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679

G

HNF1 homeobox A

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

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:58,042,794...58,045,536

G

kelch like ECH associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604

G

galectin 1

mRNA:increased expression:liver (rat)

NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356

G

mitogen-activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mitogen-activated protein kinase 14

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

Ensembl chr16:30,489,362...30,498,017

G

mitogen-activated protein kinase 8

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,806,748...45,936,362

G

mitogen-activated protein kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:175,437,167...175,495,469
Ensembl chr 5:182,748,381...182,795,135

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:30026087 PMID:31900718

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

nuclear receptor subfamily 1 group H member 4

treatment
disease_progression

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

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

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

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

opioid receptor mu 1

mRNA:decreased expression:hypothalamus, hippocampus

NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251

G

platelet derived growth factor receptor beta

treatment

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

pleiotrophin

mRNA:increased expression:liver (rat)

NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

SET domain containing 7, histone lysine methyltransferase

treatment

NCBI chr 4:131,869,999...131,921,342
Ensembl chr 4:143,167,190...143,227,732

G

solute carrier family 22 member 1

protein:decreased expression:kidney

NCBI chr 6:158,004,545...158,046,428
Ensembl chr 6:163,014,663...163,054,681

G

solute carrier family 22 member 2

protein:increased expression:kidney

NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

PMID:28789951 PMID:30026087 PMID:31932644

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Familial Primary Biliary Cirrhosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tight junction protein 2

ClinVar Annotator: match by term: Familial primary biliary cirrhosis

PMID:25741868 PMID:28492532 PMID:32439973

NCBI chr 9:55,536,627...55,690,472
Ensembl chr 9:67,886,421...68,021,189

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 8:7,333,498...7,359,264

G

glutamate dehydrogenase 1

protein:increased expression:serum

NCBI chr10:83,498,338...83,540,730

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial chaperone BCS1

ClinVar Annotator: match by term: GRACILE syndrome

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

NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856

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:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

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 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673

G

erythrocyte membrane protein band 4.2

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458

G

glucose-6-phosphate isomerase

ClinVar Annotator: match by term: Hereditary spherocytosis

NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598

G

KLF transcription factor 1

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

NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425

G

olfactory receptor 10Z1

ClinVar Annotator: match by term: Spherocytosis, Recessive

NCBI chr 1:133,965,449...133,966,390

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 chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312

G

spectrin alpha, erythrocytic 1

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

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

NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927

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 chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029

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 chr2A:70,724,454...70,831,248
Ensembl chr2A:71,839,470...71,895,106

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 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549

G

erythrocyte membrane protein band 4.2

OMIM:182900

NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458

G

spectrin alpha, erythrocytic 1

OMIM:182900

NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927

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 chr14:45,287,879...45,327,708
Ensembl chr14:64,167,692...64,207,509

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 chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851

hereditary spherocytosis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

olfactory receptor 10Z1

ClinVar Annotator: match by term: Hereditary spherocytosis type 3

NCBI chr 1:133,965,449...133,966,390

G

spectrin alpha, erythrocytic 1

ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive

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

NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927

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 chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312

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 chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458

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 chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248

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 chr 3:187,141,710...187,436,909
Ensembl chr 3:195,964,178...195,990,065

intrahepatic cholangiocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma

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

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

AT-rich interaction domain 1A

disease_progression
exacerbates

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

PMID:27433094 PMID:30849962 PMID:31665232

RGD:126775257 RGD:126781775 RGD:14974231

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

BRCA1 associated deubiquitinase 1

disease_progression

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

beclin 1

disease_progression

NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286

G

B-Raf proto-oncogene, serine/threonine kinase

severity

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

Fas cell surface death receptor

disease_progression

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

severity

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

forkhead box P3

DNA:hypomethylation:liver

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

heat shock protein 90 alpha family class A member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723

G

heat shock protein 90 alpha family class B member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr 6:43,842,796...43,849,637
Ensembl chr 6:45,125,773...45,133,872

G

isocitrate dehydrogenase (NADP(+)) 1

no_association

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

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

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

PMID:22824796 PMID:32463951

RGD:149735894 RGD:14985256

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

lysine demethylase 5C

exacerbates

protein:decreased expression:bile duct (human)

NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations::

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

lipocalin 2

treatment

Protein:increased expression:bile duct

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

G

LDL receptor related protein 1B

exacerbates

DNA:mutations:multiple: (human)

NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr 3:65,257,763...65,932,527
Ensembl chr 3:66,635,580...66,757,358

G

polybromo 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

PMID:27864835 PMID:30377796

RGD:150340628 RGD:152998946

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

G

phosphatase and tensin homolog

disease_progression

protein:decreased expression:liver (human)

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

ring finger protein 43

exacerbates

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

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

G

S100 calcium binding protein B

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953

G

SMAD family member 4

disease_progression

mRNA,protein:decreased expression:intrahepatic bile duct

PMID:16917866 PMID:23981608

RGD:18936999 RGD:21066336

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

telomerase associated protein 1

mRNA:increased expression:hepatocyte,biliary epithelium.

NCBI chr14:1,240,370...1,285,787
Ensembl chr14:19,293,452...19,332,960

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 chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379

G

ATP binding cassette subfamily B member 4

treatment

ClinVar Annotator: match by term: Progressive intrahepatic cholestasis

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

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

adaptor related protein complex 1 subunit sigma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316

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 chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

cytochrome P450 family 2 subfamily E member 1

Ensembl chr10:134,839,025...134,852,719

G

early growth response 1

CTD Direct Evidence: marker/mechanism

PMID:18364083 PMID:22094456

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

ectonucleoside triphosphate diphosphohydrolase 1

protein:decreased activity,altered location:liver:

NCBI chr10:92,365,267...92,511,852
Ensembl chr10:95,828,094...95,983,257

G

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

CBAS1, OMIM:607765

NCBI chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803

G

uncharacterized LOC100974886

mRNA:increased expression:liver

NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555

G

MAF bZIP transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr16:60,188,494...60,194,871

G

MAF bZIP transcription factor G

CTD Direct Evidence: marker/mechanism

NCBI chr17:76,323,874...76,333,300
Ensembl chr17:82,030,699...82,031,278

G

nuclear receptor subfamily 0 group B member 2

mRNA, protein:increased expression:liver

NCBI chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942

G

nuclear receptor subfamily 1 group H member 4

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

solute carrier family 22 member 1

mRNA, protein:decreased expression:liver

NCBI chr 6:158,004,545...158,046,428
Ensembl chr 6:163,014,663...163,054,681

G

solute carrier family 22 member 2

mRNA, protein:decreased expression:kidney

NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931

G

tight junction protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,536,627...55,690,472
Ensembl chr 9:67,886,421...68,021,189

intrahepatic cholestasis of pregnancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196

G

histone deacetylase 3

severity

NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322

G

interleukin 18

severity

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

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 chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196

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 chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379

G

ATP binding cassette subfamily B member 4

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

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

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

Isolated Caroli Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

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

NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309

Klatskin's tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Klatskin tumor

PMID:25741868 PMID:28492532

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

AT-rich interaction domain 1A

disease_progression

DNA:deletions

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

GATA binding protein 6

sexual_dimorphism

DNA:mutations

NCBI chr18:15,411,764...15,444,402

G

lysine methyltransferase 2C

onset

DNA:mutations

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

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

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

VPS50 subunit of EARP/GARPII complex

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

PMID:25741868 PMID:34037727

NCBI chr 7:85,188,960...85,315,452
Ensembl chr 7:98,786,809...98,908,113

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 chr16:49,503,732...49,540,124
Ensembl chr16:68,891,923...68,927,421

obstructive jaundice

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

adrenomedullin

protein:increased expression:plasma:

NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842

G

albumin

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

C-C motif chemokine ligand 2

treatment

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD14 molecule

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

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

complement factor H

protein:decreased expression:plasma:

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

glutamic--pyruvic transaminase

Ensembl chr 8:144,259,991...144,263,737

G

hydroxymethylbilane synthase

Protein:increased activity:liver (rat)

NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757

G

high mobility group box 1

protein:increased expression:liver, plasma

NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527

G

interferon regulatory factor 5

mRNA,protein:increased expression:liver,nucleus:

NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356

G

lipopolysaccharide binding protein

mRNA:increased expression:liver

NCBI chr20:34,670,128...34,703,046
Ensembl chr20:35,780,768...35,813,188

G

proliferating cell nuclear antigen

treatment

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

G

toll like receptor 2

treatment

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

uncoupling protein 2

NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185

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 chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502

periampullary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Periampullary adenoma

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

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

primary biliary cholangitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

mRNA:increased expression:liver (human)

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

G

ATP binding cassette subfamily B member 4

disease_progression
treatment

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

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

RGD:14694982 RGD:153297773

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

ATP binding cassette subfamily C member 2

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

PMID:15542527 PMID:15770136

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157

G

angiotensin I converting enzyme

mRNA:increased expression:liver

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

angiotensin converting enzyme 2

mRNA, protein:increased expression:liver

NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891

G

angiotensinogen

protein:increased expression:plasma

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

aquaporin 4

NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919

G

carbonic anhydrase 1

NCBI chr 8:81,854,390...81,905,728
Ensembl chr 8:83,463,434...83,526,899

G

carbonic anhydrase 2

NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580

G

C-C motif chemokine ligand 5

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

PMID:12126966 PMID:15770052

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

cellular communication network factor 2

mRNA:increased expression:liver (rat)

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

CD14 molecule

disease_progression

protein:increased expression:liver (human)

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CD68 molecule

disease_progression

protein:increased expression:liver (human)

NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981

G

CD80 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870

G

cadherin 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:46,684,545...46,722,740
Ensembl chr16:65,787,370...65,825,360

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

centromere protein B

NCBI chr20:3,864,902...3,867,790
Ensembl chr20:3,622,529...3,624,329

G

C-type lectin domain containing 16A

CTD Direct Evidence: marker/mechanism

NCBI chr16:9,887,877...10,124,500
Ensembl chr16:11,109,869...11,343,512

G

collagen type I alpha 1 chain

treatment

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

cytoplasmic polyadenylation element binding protein 1

protein:increased expression:liver

NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948

G

cytoplasmic polyadenylation element binding protein 4

protein:increased expression:liver