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.
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Term: | bile duct disease |
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Accession: | DOID:4138
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browse the term
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Definition: | Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT. |
Synonyms: | exact_synonym: | bile duct diseases; bile duct disorder; disorder of bile duct |
| primary_id: | MESH:D001649 |
| xref: | NCI:C96716 |
For additional species annotation, visit the
Alliance of Genome Resources.
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F3 |
coagulation factor III, tissue factor |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:21037076 |
RGD:11341737 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fech |
ferrochelatase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10464147 |
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NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
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Magee1 |
MAGE family member E1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30515189 |
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NCBI chr X:70,189,242...70,192,789
Ensembl chr X:70,189,187...70,192,810
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Ankef1 |
ankyrin repeat and EF-hand domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:123,847,817...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia CTD Direct Evidence: marker/mechanism DNA:insertion:exon:c.962_963insA (human) |
ClinVar CTD OMIM RGD |
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 PMID:10213047 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11139247 PMID:11152664 PMID:11157803 PMID:11180599 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12297837 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18660822 PMID:19058200 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:20586101 PMID:21532573 PMID:21752016 PMID:22040217 PMID:22382802 PMID:22487239 PMID:22488849 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25525159 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29483232 PMID:29555955 PMID:29783821 PMID:30074189 PMID:30293987 PMID:30651579 PMID:31343788 PMID:31475041 PMID:33433009 PMID:33532864 PMID:11745040 PMID:16875832 PMID:21714972 More...
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RGD:1580651, RGD:6482237, RGD:6482232 |
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Lamp5 |
lysosomal-associated membrane protein family, member 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:123,372,462...123,384,970
Ensembl chr 3:123,372,462...123,384,952
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Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Notch2 |
notch receptor 2 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 |
ClinVar OMIM RGD |
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:31749841 PMID:16773578 More...
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RGD:1580762 |
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pak5 |
p21 (RAC1) activated kinase 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930
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Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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Slx4ip |
SLX4 interacting protein |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20190753 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 PMID:31319225 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
OMIM ClinVar |
PMID:8151641 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:31479177 More...
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 |
OMIM ClinVar |
PMID:20190753 PMID:25741868 PMID:28492532 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: Summerskill syndrome DNA:missense mutation:cds:p.I661T (human) |
OMIM ClinVar RGD |
PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:15239083 PMID:15888793 PMID:19731236 PMID:19918981 PMID:20981092 PMID:22995991 PMID:25741868 PMID:26126923 PMID:26879107 PMID:28492532 PMID:9918928 More...
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RGD:14401576 |
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 |
OMIM ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:14672610 PMID:15300568 PMID:15791618 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:20232290 PMID:20583290 PMID:20683201 PMID:24231640 PMID:24402531 PMID:24711118 PMID:24991443 PMID:25741868 PMID:25847299 PMID:26019043 PMID:26678486 PMID:26858187 PMID:27050426 PMID:28492532 PMID:28733223 PMID:29412511 PMID:32581362 PMID:32808743 More...
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NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24131658 |
RGD:151361287 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:25704541 |
RGD:11521169 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Apob |
apolipoprotein B |
susceptibility |
ISO |
DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) |
RGD |
PMID:18296645 |
RGD:2317550 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:SNP:intron:rs440446 (human) |
RGD |
PMID:18296645 |
RGD:2317550 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 PMID:28492532 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Mlh1 |
mutL homolog 1 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25157968 PMID:25741868 PMID:25823662 PMID:28492532 More...
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NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Msh2 |
mutS homolog 2 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
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NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 |
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NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 PMID:27782177 More...
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pold1 |
DNA polymerase delta 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tjp1 |
tight junction protein 1 |
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ISO |
protein:decreased expression:bile duct |
RGD |
PMID:19184677 |
RGD:2325030 |
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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Msln |
mesothelin |
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ISO |
protein:increased expression:bile duct |
RGD |
PMID:17276942 |
RGD:2326059 |
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24890221 |
RGD:151361210 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Asph |
aspartate-beta-hydroxylase |
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ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:16673309 |
RGD:2325824 |
NCBI chr 5:22,603,879...22,814,107
Ensembl chr 5:22,603,486...22,813,876
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Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17341899 |
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NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Fscn1 |
fascin actin-bundling protein 1 |
disease_progression |
ISO |
protein:increased expression:bile duct |
RGD |
PMID:17419223 |
RGD:2317786 |
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Il6 |
interleukin 6 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:17617204 |
RGD:2317166 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
protein:increased expression:intrahepatic bile duct (human) |
RGD |
PMID:15892172 |
RGD:2317585 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mgmt |
O-6-methylguanine-DNA methyltransferase |
severity |
ISO |
protein:decreased expression:carcinoma of extrahepatic bile duct (human) |
RGD |
PMID:11986189 |
RGD:2317662 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mki67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
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RGD |
PMID:9869516 |
RGD:2317706 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Muc16 |
mucin 16, cell surface associated |
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ISO |
protein:increased expression:serum,bile |
RGD |
PMID:1657243 |
RGD:2325134 |
NCBI chr 8:16,164,531...16,323,126
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Muc4 |
mucin 4, cell surface associated |
disease_progression |
ISO |
protein:increased expression:bile duct |
RGD |
PMID:16857800 |
RGD:2324929 |
NCBI chr11:68,008,245...68,053,229
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Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
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RGD |
PMID:8501910 PMID:9851639 |
RGD:2326077, RGD:2326076 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Runx3 |
RUNX family transcription factor 3 |
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ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:15471559 |
RGD:2324957 |
NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21356120 |
RGD:5686894 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Cd14 |
CD14 molecule |
disease_progression |
ISO |
mRNA, protein:increased expression:liver, plasma: |
RGD |
PMID:21172039 |
RGD:7184431 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Dlk1 |
delta like non-canonical Notch ligand 1 |
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ISO |
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RGD |
PMID:14743499 |
RGD:1625622 |
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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Ggt1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
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RGD |
PMID:29056230 |
RGD:14701039 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gli2 |
GLI family zinc finger 2 |
disease_progression |
ISO |
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RGD |
PMID:25746691 |
RGD:12802349 |
NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Hamp |
hepcidin antimicrobial peptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16627878 |
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NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Icam1 |
intercellular adhesion molecule 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.G241R (human) |
RGD |
PMID:18401716 |
RGD:14402043 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il18 |
interleukin 18 |
susceptibility |
ISO |
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) protein:increased expression:serum: |
RGD |
PMID:30059753 PMID:10726686 |
RGD:14695528, RGD:14695529 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Mir145 |
microRNA 145 |
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IEP |
miRNA:decreased expression:liver (human) |
RGD |
PMID:28902846 |
RGD:15039396 |
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir155 |
microRNA 155 |
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ISO |
miRNA:increased expression:liver |
RGD |
PMID:28355202 PMID:27817193 |
RGD:24922206, RGD:25671379 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Pten |
phosphatase and tensin homolog |
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ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:25487473 |
RGD:12832754 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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Shh |
sonic hedgehog signaling molecule |
disease_progression |
ISO |
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RGD |
PMID:25746691 |
RGD:12802349 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Sox17 |
SRY-box transcription factor 17 |
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ISS |
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MouseDO |
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NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
disease_progression |
ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
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ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
|
RGD |
PMID:15845635 |
RGD:1581370 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
|
RGD |
PMID:30686515 |
RGD:14985228 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Angpt2 |
angiopoietin 2 |
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IEP |
protein:increased expression:bile duct (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
ClinVar Annotator: match by term: Caroli disease |
ClinVar |
PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15698423 PMID:15805161 PMID:16133180 PMID:19914852 PMID:20413436 PMID:21228398 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492530 PMID:28492532 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Ttc26 |
tetratricopeptide repeat domain 26 |
|
ISO |
ClinVar Annotator: match by term: Caroli disease |
ClinVar |
PMID:31595528 PMID:32617964 |
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NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
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G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:25726036 |
RGD:11528287 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:c.3972C>T (human) |
RGD |
PMID:19451719 |
RGD:2317508 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Adrb2 |
adrenoceptor beta 2 |
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ISO |
protein:decreased expression:liver |
RGD |
PMID:16292515 |
RGD:2325640 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Alb |
albumin |
disease_progression |
ISO |
|
RGD |
PMID:10776430 PMID:20431764 PMID:17545000 |
RGD:2325682, RGD:2325679, RGD:2325680 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alox5 |
arachidonate 5-lipoxygenase |
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ISO |
protein:increased expression:bile duct |
RGD |
PMID:18507031 |
RGD:2317521 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Anxa2 |
annexin A2 |
disease_progression |
ISO |
|
RGD |
PMID:20493868 |
RGD:2325728 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G |
Anxa8 |
annexin A8 |
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ISO |
|
RGD |
PMID:19376120 |
RGD:2325733 |
NCBI chr16:9,397,144...9,412,072
Ensembl chr16:9,397,113...9,412,043
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
DNA:hypermethylation:promoter DNA:loss of heterozygosity |
RGD |
PMID:15467712 PMID:10212000 |
RGD:2317198, RGD:2317205 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Apoa1 |
apolipoprotein A1 |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:19486127 |
RGD:2325756 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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G |
Asph |
aspartate-beta-hydroxylase |
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ISO |
|
RGD |
PMID:21898484 |
RGD:6902945 |
NCBI chr 5:22,603,879...22,814,107
Ensembl chr 5:22,603,486...22,813,876
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G |
Bap1 |
Brca1 associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 PMID:25231345 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:12692057 |
RGD:11073239 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
onset |
ISO |
protein:decreased expression:liver |
RGD |
PMID:15619210 |
RGD:2317417 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cycs |
cytochrome c, somatic |
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ISO |
|
RGD |
PMID:19788692 |
RGD:2317615 |
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
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G |
Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
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ISO |
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) |
RGD |
PMID:23375797 |
RGD:151361187 |
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17341899 |
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NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Epo |
erythropoietin |
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IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:23052842 |
RGD:10400912 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Epor |
erythropoietin receptor |
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IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:23052842 |
RGD:10400912 |
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 |
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NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression no_association |
ISO |
DNA:SNP: :g.148505302C>T (rs887569) (human) DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human) |
RGD |
PMID:24179546 PMID:24179546 |
RGD:126779604, RGD:126779604 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:11029528 |
RGD:2317746 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
protein:increased expression:bile |
RGD |
PMID:11478488 |
RGD:2317765 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fscn1 |
fascin actin-bundling protein 1 |
disease_progression |
ISO |
protein:increased expression:bile ducts |
RGD |
PMID:19721413 |
RGD:2317780 |
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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G |
Gnas |
GNAS complex locus |
disease_progression |
ISO |
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22561520 PMID:17356712 |
RGD:1601377 |
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
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RGD |
PMID:24049014 |
RGD:14700980 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
treatment |
ISO |
DNA:hypermethylation:promoter human cell line in a mouse model |
RGD |
PMID:15467712 PMID:12805482 |
RGD:2317198, RGD:14401711 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
protein:increased expression:liver: |
RGD |
PMID:23370327 |
RGD:9681560 |
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Hgf |
hepatocyte growth factor |
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IEP ISO |
mRNA, protein:increased expression: : protein:increased expression:serum |
RGD |
PMID:10827151 PMID:16974053 |
RGD:2317925, RGD:2317909 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Il4r |
interleukin 4 receptor |
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ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:18798553 |
RGD:2317263 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Il6 |
interleukin 6 |
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ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17621267 PMID:15011822 PMID:28925763 |
RGD:2317167, RGD:14975292 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34418280 |
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NCBI chr 4:49,775,812...50,277,746
Ensembl chr 4:49,776,246...50,277,728
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G |
Kmt2c |
lysine methyltransferase 2C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8968066 PMID:22561520 |
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NCBI chr 4:178,185,418...178,218,484
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G |
Krt7 |
keratin 7 |
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ISO |
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RGD |
PMID:18393293 |
RGD:2317308 |
NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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G |
LOC120095908 |
mucin-3B-like |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr12:19,455,783...19,462,165
Ensembl chr12:19,446,094...19,460,522
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G |
Mdm2 |
MDM2 proto-oncogene |
disease_progression |
ISO |
protein:increased expression:intrahepatic bile duct (human) |
RGD |
PMID:15619210 |
RGD:2317417 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
disease_progression |
IEP ISO |
protein:increased expression:liver, biliary epithelium (rat) protein:increased phosphorylation:liver, carcinoma (human) |
RGD |
PMID:14656942 PMID:16818635 |
RGD:2317601, RGD:2317578 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:17550320 |
RGD:2317632 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:serum |
RGD |
PMID:30653586 |
RGD:21081530 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir192 |
microRNA 192 |
|
ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir21 |
microRNA 21 |
|
ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir23b |
microRNA 23b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34418280 |
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NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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G |
Mki67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
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RGD |
PMID:12903495 |
RGD:2317705 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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G |
Mmp2 |
matrix metallopeptidase 2 |
disease_progression |
IEP ISO |
protein:increased expression:bile duct |
RGD |
PMID:15213623 PMID:19629755 |
RGD:2324667, RGD:2325769 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO IEP |
mRNA:increased expression:bile duct protein:increased expression:bile duct |
RGD |
PMID:16463672 PMID:15213623 PMID:15213623 |
RGD:2325856, RGD:2324667, RGD:2324667 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Msln |
mesothelin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14576474 |
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NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:17201138 |
RGD:2317119 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Muc1 |
mucin 1, cell surface associated |
disease_progression |
ISO IEP |
protein:increased secretion:bile protein:increased expression:serum protein:increased expression:bile duct: mRNA:increased expression:bile duct |
RGD |
PMID:19055478 PMID:19260467 PMID:15213623 PMID:18081149 PMID:19639217 |
RGD:2324622, RGD:2324664, RGD:2324667, RGD:2324638, RGD:2317986 |
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc16 |
mucin 16, cell surface associated |
|
ISO |
associated with Opisthorchiasis;protein:increased expression:serum |
RGD |
PMID:1653472 |
RGD:2325142 |
NCBI chr 8:16,164,531...16,323,126
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc3 |
mucin 3 |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522
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G |
Muc4 |
mucin 4, cell surface associated |
disease_progression |
ISO IEP |
protein:increased expression:bile duct |
RGD |
PMID:14752841 PMID:19082442 |
RGD:2324944, RGD:2303602 |
NCBI chr11:68,008,245...68,053,229
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
disease_progression |
ISO |
protein:increased expression:serum mRNA:increased expression:bile duct |
RGD |
PMID:14508831 PMID:11680592 |
RGD:2324990, RGD:2324948 |
NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
|
ISO |
protein:increased expression: : |
RGD |
PMID:10209489 |
RGD:2325167 |
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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G |
Nat2 |
N-acetyltransferase 2 |
|
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:15901993 |
RGD:2317172 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Ncam1 |
neural cell adhesion molecule 1 |
|
ISO |
associated with hepatitis |
RGD |
PMID:12031086 |
RGD:2326079 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16818635 PMID:16094703 |
RGD:2325280 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Notch1 |
notch receptor 1 |
|
ISO |
protein:increased expression:cholangiocyte |
RGD |
PMID:15887117 |
RGD:2325330 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
disease_progression |
IEP |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:24255171 |
RGD:15090822 |
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
disease_progression |
ISO |
DNA:loss of heterozygosity (human) |
RGD |
PMID:11866974 PMID:11260864 |
RGD:2317134, RGD:2317136 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Osbp2 |
oxysterol binding protein 2 |
|
ISO |
mRNA:increased expression:blood |
RGD |
PMID:21763455 |
RGD:41404644 |
NCBI chr14:78,585,088...78,746,785
Ensembl chr14:78,585,089...78,746,786
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G |
Osbpl7 |
oxysterol binding protein-like 7 |
|
ISO |
mRNA:increased expression:blood |
RGD |
PMID:21763455 |
RGD:41404644 |
NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
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G |
Pawr |
pro-apoptotic WT1 regulator |
|
ISO |
mRNA,protein:decreased expression:cholangiocyte: |
RGD |
PMID:20724592 |
RGD:9835357 |
NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
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G |
Pbrm1 |
polybromo 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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G |
Peg3 |
paternally expressed 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
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G |
Ppia |
peptidylprolyl isomerase A |
ameliorates |
ISO |
human cell line and construct in a mouse model |
RGD |
PMID:21871105 |
RGD:150429623 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
sexual_dimorphism |
ISO |
DNA:substitutions, insertion/deletions: (human) |
RGD |
PMID:28000796 |
RGD:151665188 |
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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G |
Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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G |
Prss2 |
protease, serine, 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:8621252 |
RGD:2324908 |
NCBI chr 4:70,278,304...70,283,385
Ensembl chr 4:70,278,304...70,283,385
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27022031 PMID:23376645 |
RGD:12802341 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16818635 PMID:19621664 |
RGD:2317180 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Reg1a |
regenerating family member 1 alpha |
susceptibility |
ISO |
mRNA, protein:increased expression:liver (human) |
RGD |
PMID:11343228 |
RGD:10044031 |
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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G |
Rnf43 |
ring finger protein 43 |
exacerbates |
ISO |
CTD Direct Evidence: marker/mechanism associated with opisthorchiasis;DNA:SNPs:multiple: (human) |
CTD RGD |
PMID:22561520 PMID:22561520 |
RGD:151361227 |
NCBI chr10:72,461,508...72,535,977
Ensembl chr10:72,464,348...72,536,977
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G |
Robo2 |
roundabout guidance receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536
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G |
Runx3 |
RUNX family transcription factor 3 |
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ISO |
protein:decreased expression:bile duct |
RGD |
PMID:19827872 |
RGD:2324955 |
NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Slc5a5 |
solute carrier family 5 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17408651 |
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NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression treatment |
ISO |
|
RGD |
PMID:25475870 PMID:28347255 PMID:24131658 |
RGD:151361214, RGD:151361294, RGD:151361287 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Smad4 |
SMAD family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Socs3 |
suppressor of cytokine signaling 3 |
severity |
ISO |
protein:decreased expression:bile duct (human) |
RGD |
PMID:26485275 |
RGD:11250478 |
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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G |
Sox17 |
SRY-box transcription factor 17 |
severity |
IEP |
|
RGD |
PMID:20816680 |
RGD:4889598 |
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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G |
Tgfb1 |
transforming growth factor, beta 1 |
disease_progression |
ISO IEP |
protein:increased expression:pancreas |
RGD |
PMID:16083599 PMID:12632524 |
RGD:2325020, RGD:1299231 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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IEP |
mRNA:increased expression:bile duct |
RGD |
PMID:12632524 |
RGD:1299231 |
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Thbs1 |
thrombospondin 1 |
disease_progression |
ISO |
DNA:hypermethylation (human) |
RGD |
PMID:11927969 PMID:12213730 PMID:16465407 |
RGD:2325027, RGD:2325026, RGD:2325024 |
NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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G |
Tnc |
tenascin C |
severity |
IEP |
|
RGD |
PMID:20816680 |
RGD:4889598 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Tnfaip3 |
TNF alpha induced protein 3 |
severity |
ISO |
protein:increased expression:bile duct (human) |
RGD |
PMID:26485275 |
RGD:11250478 |
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 PMID:22561520 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ttr |
transthyretin |
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ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:18275060 |
RGD:151660506 |
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
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ISO |
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RGD |
PMID:9230212 |
RGD:2325161 |
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Cd40lg |
CD40 ligand |
treatment |
IDA |
|
RGD |
PMID:23820408 |
RGD:11352285 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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IEP |
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RGD |
PMID:22576464 |
RGD:10401932 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
severity |
ISO |
associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) |
RGD |
PMID:31121195 |
RGD:14974230 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Mir192 |
microRNA 192 |
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ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir21 |
microRNA 21 |
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ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8698195 |
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Car2 |
carbonic anhydrase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15816485 |
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NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IEP |
|
RGD |
PMID:17102917 |
RGD:14995925 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
treatment |
IEP |
|
RGD |
PMID:17102917 |
RGD:14995925 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Egr1 |
early growth response 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Itgb6 |
integrin subunit beta 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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G |
Krt19 |
keratin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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G |
Muc3 |
mucin 3 |
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IEP |
mRNA:increased expression:bile duct |
RGD |
PMID:19032457 |
RGD:2325170 |
NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
mRNA:increased expression:cd4-positive helper T cells (human) |
RGD |
PMID:30690835 |
RGD:14975104 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
|
RGD |
PMID:29158418 |
RGD:14700923 |
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Tlr2 |
toll-like receptor 2 |
disease_progression |
ISO |
|
RGD |
PMID:30340822 |
RGD:15090860 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Vdr |
vitamin D receptor |
|
ISO |
mRNA,protein:decreased expression:liver |
RGD |
PMID:28146070 |
RGD:14401745 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISS |
OMIM:600803 |
MouseDO |
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Pot1 |
protection of telomeres 1 |
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ISO |
mRNA:decreased expression:gall bladder |
RGD |
PMID:28643740 |
RGD:151356941 |
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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G |
Aqp1 |
aquaporin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
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NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
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NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:deletion:exon: |
CTD RGD |
PMID:18988797 PMID:15830394 |
RGD:14700991 |
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Sct |
secretin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
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NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658
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G |
Slc4a2 |
solute carrier family 4 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
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NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
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G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12902918 |
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NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
treatment susceptibility |
IDA IEP ISO |
mRNA:altered expression:liver (rat) protein:decreased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11179459 PMID:22461449 PMID:24713091 PMID:12702498 PMID:27090119 PMID:27593105 PMID:29087027 More...
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RGD:1598571, RGD:15090804, RGD:14402414, RGD:14402412 |
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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G |
Abcb1b |
ATP-binding cassette, subfamily B (MDR/TAP), member 1B |
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IEP |
|
RGD |
PMID:11680581 |
RGD:1598589 |
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
IEP ISO ISS |
DNA:mutations: : |
MouseDO RGD |
PMID:11680581 PMID:26324191 |
RGD:1598589, RGD:11565494 |
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment disease_progression |
IAGP IEP ISO IMP |
mRNA:altered expression:liver (rat) CTD Direct Evidence: marker/mechanism protein:decreased expression:intestine: mRNA,protein:decreased expression:intestine: |
CTD RGD |
PMID:10869290 PMID:17681005 PMID:22521610 PMID:12702498 PMID:27090119 PMID:17009103 PMID:15057744 PMID:15057744 PMID:16037978 More...
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RGD:1598571, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598614 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
|
IEP ISO |
protein:increased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22461449 PMID:18096675 PMID:23486593 |
RGD:2301060, RGD:11535162 |
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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G |
Abcc4 |
ATP binding cassette subfamily C member 4 |
treatment |
IEP |
protein:altered expression:kidney, liver |
RGD |
PMID:15030973 PMID:30223280 |
RGD:2301085, RGD:15045612 |
NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
IEP |
|
RGD |
PMID:16764892 |
RGD:1598662 |
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
|
IEP |
|
RGD |
PMID:16764892 |
RGD:1598662 |
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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G |
Ace |
angiotensin I converting enzyme |
|
IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:30458228 |
RGD:25671450 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
|
IEP |
mRNA, protein:increased expression, increased activity:liver, plasma (rat) |
RGD |
PMID:19652891 |
RGD:2315953 |
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
|
IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:19806079 |
RGD:5129088 |
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Alb |
albumin |
|
ISO |
|
RGD |
PMID:6431134 |
RGD:11035297 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Aldh1b1 |
aldehyde dehydrogenase 1 family, member B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
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G |
Aldh1l1 |
aldehyde dehydrogenase 1 family, member L1 |
treatment |
IEP |
|
RGD |
PMID:30223280 |
RGD:15045612 |
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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G |
Aldh8a1 |
aldehyde dehydrogenase 8 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chr 1:16,183,940...16,203,385
Ensembl chr 1:16,183,940...16,203,385
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G |
Apoc3 |
apolipoprotein C3 |
|
IEP |
|
RGD |
PMID:17201892 |
RGD:10054045 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Apoe |
apolipoprotein E |
|
ISO |
associated with Pancreatic Neoplasms;protein:increased expression:plasma |
RGD |
PMID:19055369 |
RGD:2317548 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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|
G |
Arg1 |
arginase 1 |
|
IEP |
protein:altered activity:liver (rat) |
RGD |
PMID:15916970 |
RGD:4143230 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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|
G |
Arntl |
aryl hydrocarbon receptor nuclear translocator-like |
|
IEP |
mRNA:increased expression:cholangiocyte |
RGD |
PMID:21757639 |
RGD:10043349 |
NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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G |
Bcat1 |
branched chain amino acid transaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597
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G |
Bex4 |
brain expressed, X-linked 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr X:99,132,076...99,133,413
Ensembl chr X:99,131,942...99,133,531
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G |
Blvra |
biliverdin reductase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033
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|
G |
Btg3 |
BTG anti-proliferation factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
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|
G |
Cadps2 |
calcium dependent secretion activator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 4:51,780,415...52,309,641
Ensembl chr 4:51,781,053...52,309,829
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|
G |
Cat |
catalase |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27989131 PMID:21339256 |
RGD:5130873 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Cd14 |
CD14 molecule |
|
IEP |
|
RGD |
PMID:22511970 |
RGD:7183752 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
IEP |
protein:decreased expression:jejunum, ileum |
RGD |
PMID:16804311 |
RGD:2289372 |
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cftr |
CF transmembrane conductance regulator |
|
IEP |
mRNA,Protein:increased expression |
RGD |
PMID:15605366 |
RGD:1599598 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Clock |
clock circadian regulator |
|
IEP |
mRNA:increased expression:cholangiocyte |
RGD |
PMID:21757639 |
RGD:10043349 |
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26884397 |
|
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26884397 |
|
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
ISO IEP IDA |
mRNA:increased expression:liver (mouse) mRNA:increased expression:liver (rat) |
RGD |
PMID:22094456 PMID:22824087 PMID:21274875 |
RGD:8552675, RGD:8552776, RGD:8552699 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Cp |
ceruloplasmin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:29523470 |
RGD:14401716 |
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
associated with Chronic Hepatitis C; protein:increased expression:serum: |
RGD |
PMID:30507970 |
RGD:27095896 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27565560 |
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NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15795599 |
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NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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G |
Cyp2b1 |
cytochrome P450, family 2, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
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NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
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G |
Cyp3a2 |
cytochrome P450, family 3, subfamily a, polypeptide 2 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008
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G |
Cyp3a23-3a1 |
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030
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G |
Cyp7a1 |
cytochrome P450 family 7 subfamily A member 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9797378 PMID:22461449 PMID:29655695 |
RGD:15090803 |
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9802883 |
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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G |
Cyp8b1 |
cytochrome P450 family 8 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
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NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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G |
Dgat2 |
diacylglycerol O-acyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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G |
Dnajb9 |
DnaJ heat shock protein family (Hsp40) member B9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
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NCBI chr 6:61,270,385...61,276,795
Ensembl chr 6:61,269,913...61,275,063
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|
G |
Dnajc12 |
DnaJ heat shock protein family (Hsp40) member C12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521
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G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Eng |
endoglin |
|
IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:21146604 |
RGD:7257529 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Erlec1 |
endoplasmic reticulum lectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
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NCBI chr14:104,655,745...104,693,508
Ensembl chr14:104,655,673...104,693,480
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G |
F2rl3 |
F2R like thrombin or trypsin receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20974703 |
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NCBI chr16:17,117,441...17,119,434
Ensembl chr16:17,117,441...17,119,472
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G |
Fga |
fibrinogen alpha chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20974703 |
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NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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IEP |
|
RGD |
PMID:18802767 |
RGD:2307352 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Ghr |
growth hormone receptor |
|
ISO |
mRNA,protein:decreased expression:liver, skeletal muscle: |
RGD |
PMID:15604202 |
RGD:11567216 |
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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G |
Gstm1 |
glutathione S-transferase mu 1 |
treatment |
IDA |
|
RGD |
PMID:25932098 |
RGD:14701043 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
treatment |
IEP |
|
RGD |
PMID:23960717 |
RGD:10401941 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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|
G |
Gtpbp2 |
GTP binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
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|
G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
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G |
Hao2 |
hydroxyacid oxidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
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G |
Hjv |
hemojuvelin BMP co-receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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|
G |
Hoga1 |
4-hydroxy-2-oxoglutarate aldolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 1:240,856,991...240,884,243
Ensembl chr 1:240,857,126...240,884,568
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G |
Hp |
haptoglobin |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:12940443 |
RGD:1626374 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25526675 |
|
NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Id1 |
inhibitor of DNA binding 1, HLH protein |
|
IEP |
protein:increased expression:liver, nucleus (rat) |
RGD |
PMID:16628634 |
RGD:9686088 |
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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G |
Id4 |
inhibitor of DNA binding 4, HLH protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470
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G |
Igf1 |
insulin-like growth factor 1 |
|
IEP ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:12826230 PMID:18607346 |
RGD:10046052 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il1a |
interleukin 1 alpha |
|
IEP |
protein:increased expression:liver |
RGD |
PMID:19535096 |
RGD:2311076 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:29698570 |
RGD:14928214 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
|
IEP |
|
RGD |
PMID:20031157 |
RGD:2317270 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kank1 |
KN motif and ankyrin repeat domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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G |
Kmt2b |
lysine methyltransferase 2B |
|
ISO |
mRNA:decreased expression:liver (mouse) |
RGD |
PMID:21330447 |
RGD:9588602 |
NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:28124283 |
RGD:13703118 |
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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G |
Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
|
IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:28124283 |
RGD:13703118 |
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G |
LOC498368 |
similar to RIKEN cDNA 0610040J01 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr14:44,387,386...44,478,344
Ensembl chr14:44,387,393...44,478,041
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G |
Ly96 |
lymphocyte antigen 96 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
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G |
Maob |
monoamine oxidase B |
|
IEP |
protein:altered activity:hypothalamus (rat) |
RGD |
PMID:18802767 |
RGD:2307352 |
NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
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G |
Mapk13 |
mitogen activated protein kinase 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222
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G |
Mapk14 |
mitogen activated protein kinase 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Mboat1 |
membrane bound O-acyltransferase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr17:34,331,413...34,445,088
Ensembl chr17:34,331,422...34,445,088
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G |
Mir130b |
microRNA 130b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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G |
Mir143 |
microRNA 143 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30125006 |
|
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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G |
Mir185 |
microRNA 185 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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G |
Mir190 |
microRNA 190 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 8:67,850,987...67,851,071
Ensembl chr 8:67,850,987...67,851,071
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G |
Mir27b |
microRNA 27b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr17:1,813,427...1,813,523
Ensembl chr17:1,813,426...1,813,529
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G |
Mir337 |
microRNA 337 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
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G |
Mir361 |
microRNA 361 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr X:78,246,206...78,246,275
Ensembl chr X:78,246,206...78,246,275
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G |
Mir377 |
microRNA 377 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 6:128,755,051...128,755,122
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G |
Mir411 |
microRNA 411 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 6:128,723,189...128,723,264
Ensembl chr 6:128,723,184...128,723,279
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G |
Mir875 |
microRNA 875 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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G |
Mir99a |
microRNA 99a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
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G |
Mirlet7b |
microRNA let-7b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270
|
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G |
Mirlet7i |
microRNA let-7i |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 7:58,642,485...58,642,569
Ensembl chr 7:58,642,480...58,642,571
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP |
|
RGD |
PMID:21274875 |
RGD:8552699 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
|
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20977460 |
|
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Nfxl1 |
nuclear transcription factor, X-box binding-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr14:35,626,086...35,667,505
Ensembl chr14:35,626,066...35,667,498
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G |
Niban1 |
niban apoptosis regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr13:63,674,240...63,827,748
Ensembl chr13:63,674,171...63,827,729
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12612912 PMID:20626112 |
|
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:11352814 |
RGD:7775033 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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|
G |
Npl |
N-acetylneuraminate pyruvate lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
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|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22461449 PMID:28337145 |
RGD:13439750 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nr1d1 |
nuclear receptor subfamily 1, group D, member 1 |
|
ISO |
|
RGD |
PMID:24497272 |
RGD:10448995 |
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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|
G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17256725 |
|
NCBI chr 1:95,041,967...95,047,377
Ensembl chr 1:95,041,967...95,047,377
|
|
G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17256725 |
|
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
treatment severity |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) mRNA:increased expression:ileum (rat) mRNA, protein:altered expression:liver (rat) mutant FXR-/- mouse |
CTD RGD |
PMID:22461449 PMID:23178280 PMID:27090119 PMID:30061734 PMID:30223280 PMID:30077711 PMID:29235094 PMID:12949728 More...
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RGD:15090804, RGD:15092071, RGD:15045612, RGD:15045597, RGD:15042872, RGD:14701031 |
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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|
G |
Nr1i2 |
nuclear receptor subfamily 1, group I, member 2 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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|
G |
Nr1i3 |
nuclear receptor subfamily 1, group I, member 3 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
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G |
Otc |
ornithine transcarbamylase |
|
IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:15916970 |
RGD:4143230 |
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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|
G |
Pan2 |
poly(A) specific ribonuclease subunit PAN2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744
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|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
IEP |
mRNA,protein:increased expression:cholangiocyte, bible duct: |
RGD |
PMID:10424289 |
RGD:10449495 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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|
G |
Pdyn |
prodynorphin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16919318 |
|
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:3421781 |
|
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
|
|
G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
treatment |
IEP |
mRNA:altered expression:liver (rat) |
RGD |
PMID:27090119 |
RGD:15090804 |
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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|
G |
Pygm |
glycogen phosphorylase, muscle associated |
|
IDA |
mRNA:decreased expression:liver |
RGD |
PMID:11804660 |
RGD:1599990 |
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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|
G |
Rdx |
radixin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17681005 |
|
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
|
|
G |
Reep5 |
receptor accessory protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr18:25,945,375...25,983,271
Ensembl chr18:25,945,381...25,976,509
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|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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|
G |
Rflnb |
refilin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr10:60,893,693...60,899,970
Ensembl chr10:60,893,713...60,899,976
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|
G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4117022 |
|
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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|
G |
Serpina5 |
serpin family A member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407
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|
G |
Serpine1 |
serpin family E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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|
G |
Slc10a1 |
solute carrier family 10 member 1 |
treatment |
IEP |
mRNA:altered expression:liver (rat) |
RGD |
PMID:29655695 PMID:27090119 |
RGD:15090803, RGD:15090804 |
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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|
G |
Slc10a7 |
solute carrier family 10, member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
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|
G |
Slc16a2 |
solute carrier family 16 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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|
G |
Slc23a1 |
solute carrier family 23 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
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|
G |
Slc23a2 |
solute carrier family 23 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
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|
G |
Slc30a10 |
solute carrier family 30, member 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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|
G |
Slc51a |
solute carrier family 51 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 PMID:22461449 |
|
NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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|
G |
Slc51b |
solute carrier family 51 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 PMID:22461449 |
|
NCBI chr 8:65,931,891...65,934,893
Ensembl chr 8:65,931,890...65,940,145
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|
G |
Slco1a4 |
solute carrier organic anion transporter family, member 1a4 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) |
CTD RGD |
PMID:22461449 PMID:27090119 |
RGD:15090804 |
NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573
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|
G |
Slco1b2 |
solute carrier organic anion transporter family member 1B2 |
|
IEP |
mRNA, protein:increased expression:hepatocyte |
RGD |
PMID:17916651 |
RGD:2303109 |
NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
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|
G |
Snai1 |
snail family transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
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|
G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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|
G |
Sort1 |
sortilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28453831 |
|
NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354
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|
G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
|
|
G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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|
G |
Srp72 |
signal recognition particle 72 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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|
G |
Sult2b1 |
sulfotransferase family 2B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27052460 |
|
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
IEP |
|
RGD |
PMID:8707259 |
RGD:2290364 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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|
G |
Tjp1 |
tight junction protein 1 |
|
IEP |
protein:increased expression:liver |
RGD |
PMID:18197414 |
RGD:2325141 |
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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|
G |
Tmed7 |
transmembrane p24 trafficking protein 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr18:39,318,564...39,325,640
Ensembl chr18:39,297,351...39,325,640
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|
G |
Tmem117 |
transmembrane protein 117 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 7:125,757,591...126,219,692
Ensembl chr 7:125,757,591...126,219,690
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|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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|
G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
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|
G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
treatment |
ISO |
|
RGD |
PMID:29867509 |
RGD:14694823 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Usp53 |
ubiquitin specific peptidase 53 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis |
ClinVar |
PMID:25741868 PMID:32124521 PMID:34608165 |
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NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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G |
Utp4 |
UTP4 small subunit processome component |
|
ISO |
North American Indian childhood cirrhosis, OMIM:604901, R565W |
RGD |
PMID:12417987 |
RGD:1600653 |
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Vil1 |
villin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ARC syndrome, OMIM:208085 |
RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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|
G |
Wipi1 |
WD repeat domain, phosphoinositide interacting 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846
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G |
Xdh |
xanthine dehydrogenase |
|
IEP |
protein:alternative form:liver |
RGD |
PMID:10898233 |
RGD:13209135 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
|
RGD |
PMID:17852852 |
RGD:14694983 |
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome with ocular defect |
ClinVar |
PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28492532 More...
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NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
DNA:missense mutations: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19058225 PMID:19574260 |
RGD:11535944, RGD:11535946 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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|
|
G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:24033266 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26729329 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 PMID:29620724 More...
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|
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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|
G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29991045 More...
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|
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: COACH SYNDROME 1 | ClinVar Annotator: match by term: COACH syndrome 1 |
OMIM ClinVar |
PMID:2929661 PMID:8862632 PMID:9536098 PMID:12368986 PMID:17160906 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28973083 More...
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|
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
|
|
|
G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: COACH syndrome 2 |
OMIM ClinVar |
PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:28492532 More...
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|
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: COACH syndrome 3 |
OMIM ClinVar |
PMID:17558409 PMID:19574260 PMID:26092869 PMID:28492532 |
|
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Apob |
apolipoprotein B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18076041 |
RGD:2325763 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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|
G |
Fscn1 |
fascin actin-bundling protein 1 |
|
ISO |
mRNA, protein:increased expression: : |
RGD |
PMID:15136764 |
RGD:2317789 |
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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G |
Msln |
mesothelin |
|
ISO |
protein:increased expression:common bile duct, ampulla of vater |
RGD |
PMID:16416732 |
RGD:2326064 |
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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G |
Mtap |
methylthioadenosine phosphorylase |
|
ISO |
DNA, protein:deletion, decreased expression:common bile duct: |
RGD |
PMID:15662124 |
RGD:2317954 |
NCBI chr 5:103,873,020...103,939,406
Ensembl chr 5:103,873,020...103,939,406
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Muc1 |
mucin 1, cell surface associated |
disease_progression |
ISO |
protein:increased expression:bile duct |
RGD |
PMID:8766528 |
RGD:2324856 |
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc4 |
mucin 4, cell surface associated |
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ISO |
protein:increased expression:pancreas |
RGD |
PMID:8143972 |
RGD:2324890 |
NCBI chr11:68,008,245...68,053,229
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Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
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ISO |
protein:altered expression:pancreas |
RGD |
PMID:8143972 |
RGD:2324890 |
NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Tymp |
thymidine phosphorylase |
disease_progression |
ISO |
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RGD |
PMID:10760693 |
RGD:2325158 |
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Akr1d1 |
aldo-keto reductase family 1, member D1 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
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NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 |
OMIM ClinVar |
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:28492532 |
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NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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G |
Akr1d1 |
aldo-keto reductase family 1, member D1 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:19175828 PMID:20522910 PMID:21185810 PMID:23679950 PMID:25304492 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 |
OMIM ClinVar |
PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21623769 PMID:23812641 PMID:24117163 PMID:24641183 PMID:25741868 PMID:28492532 PMID:29980238 More...
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
OMIM ClinVar |
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25741868 PMID:28492532 PMID:30369941 More...
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NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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G |
Slc45a2 |
solute carrier family 45, member 2 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Abcd3 |
ATP binding cassette subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 |
OMIM ClinVar |
PMID:25168382 PMID:25741868 PMID:28492532 |
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NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020
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G |
Acox2 |
acyl-CoA oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 |
OMIM ClinVar |
PMID:25741868 PMID:27647924 PMID:27884763 PMID:28492532 |
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NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
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G |
Bap1 |
Brca1 associated protein 1 |
disease_progression |
ISO |
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RGD |
PMID:25536104 |
RGD:150340631 |
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Pbrm1 |
polybromo 1 |
disease_progression |
ISO |
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RGD |
PMID:25536104 |
RGD:150340631 |
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24890221 |
RGD:151361210 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Xpo1 |
exportin 1 |
disease_progression |
ISO |
protein:increased expression:extrahepatic bile duct (human) |
RGD |
PMID:27279267 |
RGD:151665800 |
NCBI chr14:97,233,263...97,275,536
Ensembl chr14:97,233,270...97,275,498
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
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IEP |
mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) |
RGD |
PMID:28660384 |
RGD:21203516 |
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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G |
Abcc4 |
ATP binding cassette subfamily C member 4 |
treatment |
IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:31932644 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Ccn2 |
cellular communication network factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Cd68 |
Cd68 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:31932644 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Crh |
corticotropin releasing hormone |
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IEP |
protein:decreased expression:hypothalamus (rat) |
RGD |
PMID:8387536 |
RGD:5490980 |
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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G |
Cygb |
cytoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
treatment |
IEP |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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G |
Cyp7a1 |
cytochrome P450 family 7 subfamily A member 1 |
treatment |
IEP |
mRNA:decreased expression:liver (rat) mRNA:decreased expression:liver, nucleus (rat) |
RGD |
PMID:29360226 PMID:28660384 |
RGD:14995480, RGD:21203516 |
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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G |
Cyp8b1 |
cytochrome P450 family 8 subfamily B member 1 |
treatment |
IEP |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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G |
Gjb1 |
gap junction protein, beta 1 |
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IEP |
mRNA,protein:decreased expression:liver: |
RGD |
PMID:7762611 |
RGD:7349397 |
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Gjb2 |
gap junction protein, beta 2 |
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IEP |
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RGD |
PMID:7762611 |
RGD:7349397 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Hamp |
hepcidin antimicrobial peptide |
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IEP |
mRNA:decreased expression:liver |
RGD |
PMID:19652645 |
RGD:11041639 |
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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G |
Hmgb1 |
high mobility group box 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
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IEP |
mRNA, protein:decreased expression:liver, mitochondrion (rat) |
RGD |
PMID:12399220 |
RGD:2326121 |
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
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G |
Hnf1a |
HNF1 homeobox A |
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IEP |
mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) |
RGD |
PMID:15723437 |
RGD:14700989 |
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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G |
Lgals1 |
galectin 1 |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:18225978 |
RGD:2316551 |
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mapk14 |
mitogen activated protein kinase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mapk9 |
mitogen-activated protein kinase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30026087 PMID:31900718 |
RGD:21201303 |
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
treatment disease_progression |
IDA IEP ISO |
mRNA:increased expression:liver (rat) protein:increased expression:liver (rat) human gene in mouse model |
RGD |
PMID:14623915 PMID:29360226 PMID:29138817 PMID:22057115 |
RGD:1625205, RGD:14995480, RGD:15042871, RGD:14928333 |
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
IMP |
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RGD |
PMID:18466260 |
RGD:10449503 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Ptn |
pleiotrophin |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:18225978 |
RGD:2316551 |
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:30026087 |
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NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Setd7 |
SET domain containing 7, histone lysine methyltransferase |
treatment |
IMP |
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RGD |
PMID:24097032 |
RGD:9491846 |
NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468
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G |
Slc22a1 |
solute carrier family 22 member 1 |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:20814153 |
RGD:7243879 |
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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G |
Slc22a2 |
solute carrier family 22 member 2 |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:20814153 |
RGD:7243879 |
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:30026087 PMID:31932644 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ctsb |
cathepsin B |
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IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:19696938 |
RGD:2315504 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Glud1 |
glutamate dehydrogenase 1 |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:10431747 |
RGD:6484593 |
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28427446 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 More...
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome |
OMIM ClinVar |
PMID:9286458 PMID:20301719 PMID:25741868 PMID:33244166 |
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NCBI chr X:66,404,622...66,427,772
Ensembl chr X:66,404,760...66,428,387
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G |
Ank1 |
ankyrin 1 |
severity |
ISO |
ClinVar Annotator: match by term: Spherocytosis, Dominant DNA:deletion mutation:exon: DNA:deletion:cds: DNA:mutation: : DNA:transversion mutation:splice site:1674G>C(mouse) DNA:transition mutation:intron: DNA:mutation:exon:p.E924X(mouse) |
ClinVar RGD |
PMID:8640229 PMID:14671619 PMID:9054656 PMID:23390527 PMID:19179303 PMID:23934996 PMID:21193012 More...
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RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 |
NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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G |
Epb42 |
erythrocyte membrane protein band 4.2 |
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ISO |
ClinVar Annotator: match by term: Spherocytosis, Recessive |
ClinVar RGD |
PMID:1558976 |
RGD:1598910 |
NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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G |
Klf1 |
Kruppel like factor 1 |
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ISO ISS |
DNA:missense mutation:exon:p.E339D (1065A>T) (human) |
MouseDO RGD |
PMID:20691777 |
RGD:10769342 |
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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G |
Olr1597 |
olfactory receptor 1597 |
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ISO |
ClinVar Annotator: match by term: Spherocytosis, Recessive |
ClinVar |
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NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
DNA:duplication:cds: (human) ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism mRNA:splicing error:intron:IVS8+1G>T (human) DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human) DNA:missense mutation:cds:p.G771D (human) |
ClinVar CTD RGD |
PMID:1378323 PMID:8282779 PMID:9326249 PMID:9207478 PMID:8547122 |
RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 |
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
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ISO |
DNA:polymorphisms:introns,exon: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive DNA:deletion:cds: |
ClinVar RGD |
PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:15384986 PMID:11920196 More...
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RGD:11059521, RGD:11059522 |
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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G |
Sptb |
spectrin, beta, erythrocytic |
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ISO |
mRNA:decreased expression:erythrocyte: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:19538529 |
RGD:11059526 |
NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
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G |
Umps |
uridine monophosphate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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G |
Add2 |
adducin 2 |
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ISS |
OMIM:182900 |
MouseDO |
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NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
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G |
Ank1 |
ankyrin 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive |
OMIM ClinVar |
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 PMID:11167760 PMID:11372755 PMID:12899723 PMID:15071790 PMID:16037067 PMID:17327413 PMID:22573887 PMID:24033266 PMID:25741868 PMID:26830532 PMID:27292444 PMID:27427187 PMID:28492532 PMID:29597199 PMID:31016877 PMID:31122244 PMID:32518793 PMID:32641076 PMID:33116287 More...
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NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
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G |
Epb42 |
erythrocyte membrane protein band 4.2 |
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ISS |
OMIM:182900 |
MouseDO |
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NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
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ISS |
OMIM:182900 |
MouseDO |
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NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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G |
Sptb |
spectrin, beta, erythrocytic |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 |
OMIM ClinVar |
PMID:7883966 PMID:8844207 PMID:9536098 PMID:9714702 PMID:11703334 PMID:17576681 PMID:19538529 PMID:25525159 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28492532 PMID:29572776 PMID:31602632 PMID:31807509 PMID:32436265 More...
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NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
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G |
Olr1597 |
olfactory receptor 1597 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 |
ClinVar |
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NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive |
OMIM ClinVar |
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:15071791 PMID:15384986 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27292444 PMID:27667160 PMID:28492532 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:32581362 More...
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NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 |
OMIM ClinVar |
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:1722314 PMID:1737855 PMID:2146504 PMID:2196932 PMID:2527366 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8011524 PMID:8206915 PMID:8282779 PMID:8343110 PMID:8434259 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8704215 PMID:9207478 PMID:9312167 PMID:9734643 PMID:9973643 PMID:10403343 PMID:10745622 PMID:10926824 PMID:10942416 PMID:11155072 PMID:11208088 PMID:11380459 PMID:12750988 PMID:14618420 PMID:16107207 PMID:16227998 PMID:16420521 PMID:19229254 PMID:20421175 PMID:21039340 PMID:22126643 PMID:23255290 PMID:24033266 PMID:24652967 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:27058983 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29627839 PMID:30230413 PMID:31959358 PMID:33532864 More...
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NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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G |
Epb42 |
erythrocyte membrane protein band 4.2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 5 |
OMIM ClinVar |
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:8547071 PMID:10406914 PMID:12176912 PMID:19508687 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma |
ClinVar |
PMID:24728327 PMID:25479140 PMID:25741868 PMID:26530882 PMID:28135048 PMID:28195569 PMID:28492532 More...
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Arid1a |
AT-rich interaction domain 1A |
disease_progression exacerbates |
ISO |
mRNA,protein:decreased expression:intrahepatic bile duct (human) |
RGD |
PMID:30849962 PMID:27433094 PMID:31665232 |
RGD:14974231, RGD:126775257, RGD:126781775 |
NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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G |
Bap1 |
Brca1 associated protein 1 |
disease_progression |
ISO |
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RGD |
PMID:27864835 |
RGD:150340628 |
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Becn1 |
beclin 1 |
disease_progression |
ISO |
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RGD |
PMID:30849962 |
RGD:14974231 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
severity |
IAGP |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:24139215 |
RGD:14398746 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Fas |
Fas cell surface death receptor |
disease_progression |
ISO |
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RGD |
PMID:11003620 |
RGD:14700701 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
severity |
ISO |
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RGD |
PMID:11003620 |
RGD:14700701 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Foxp3 |
forkhead box P3 |
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IDA |
DNA:hypomethylation:liver |
RGD |
PMID:24291052 |
RGD:38599002 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
no_association |
ISO |
DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) |
RGD |
PMID:26245674 |
RGD:14974229 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
disease_progression |
ISO |
DNA:mutations: : mRNA:decreased expression:liver (mouse) |
RGD |
PMID:22824796 PMID:32463951 |
RGD:14985256, RGD:149735894 |
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Kdm5c |
lysine demethylase 5C |
exacerbates |
ISO |
protein:decreased expression:bile duct (human) |
RGD |
PMID:32714863 |
RGD:151361175 |
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Kras |
KRAS proto-oncogene, GTPase |
disease_progression |
ISS ISO |
DNA:mutations:: |
MouseDO RGD |
PMID:24139215 |
RGD:14398746 |
NCBI chr 4:178,185,418...178,218,484
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G |
Lcn2 |
lipocalin 2 |
treatment |
IDA ISO |
Protein:increased expression:bile duct |
RGD |
PMID:24939880 PMID:24939880 |
RGD:126790491, RGD:126790491 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lrp1b |
LDL receptor related protein 1B |
exacerbates |
ISO |
DNA:mutations:multiple: (human) |
RGD |
PMID:33014052 |
RGD:150429786 |
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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G |
Mir152 |
microRNA 152 |
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ISO |
miRNA:decreased expression:intrahepatic bile duct |
RGD |
PMID:28921383 |
RGD:19165148 |
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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G |
Mir200b |
microRNA 200b |
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ISO |
RNA:increased expression:liver |
RGD |
PMID:27685844 |
RGD:14928335 |
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir21 |
microRNA 21 |
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ISO |
RNA:increased expression:liver,plasma |
RGD |
PMID:27685844 |
RGD:14928335 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir221 |
microRNA 221 |
severity |
ISO |
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RGD |
PMID:27685844 |
RGD:14928335 |
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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G |
Pbrm1 |
polybromo 1 |
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ISO |
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RGD |
PMID:27864835 |
RGD:150340628 |
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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G |
Rnf43 |
ring finger protein 43 |
exacerbates |
ISO |
mRNA, protein:decreased expression:liver, bile duct epithelium (human) |
RGD |
PMID:26980022 |
RGD:151361125 |
NCBI chr10:72,461,508...72,535,977
Ensembl chr10:72,464,348...72,536,977
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G |
Runx1 |
RUNX family transcription factor 1 |
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ISO |
mRNA:increased expression:intrahepatic bile duct |
RGD |
PMID:31015363 |
RGD:126775143 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Smad4 |
SMAD family member 4 |
disease_progression |
ISO |
mRNA,protein:decreased expression:intrahepatic bile duct |
RGD |
PMID:16917866 PMID:23981608 |
RGD:18936999, RGD:21066336 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:17855769 PMID:18049162 PMID:18395098 PMID:18692205 PMID:19101985 PMID:20683201 PMID:24991443 PMID:25741868 PMID:26858187 PMID:27050426 PMID:28492532 PMID:28733223 PMID:29412511 PMID:32581362 PMID:32808743 PMID:9806540 PMID:22619174 More...
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RGD:1598583, RGD:14688049 |
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
treatment |
ISO ISS |
DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human) OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878 |
MouseDO RGD |
PMID:8106172 PMID:30935993 PMID:18781607 |
RGD:1300325, RGD:14695045, RGD:14695044 |
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Ap1s1 |
adaptor related protein complex 1 subunit sigma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23423674 |
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NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
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G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18379143 PMID:9500542 |
RGD:1599397 |
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
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IEP |
mRNA:increased expression:liver |
RGD |
PMID:18364083 |
RGD:5135233 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
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RGD |
PMID:29404441 |
RGD:14700873 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18364083 PMID:22094456 |
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NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
|
IEP |
protein:decreased activity,altered location:liver: |
RGD |
PMID:11383876 |
RGD:9685454 |
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|
ISO |
CBAS1, OMIM:607765 |
RGD |
PMID:12679481 |
RGD:1599971 |
NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20146260 |
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Mafg |
MAF bZIP transcription factor G |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20146260 |
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NCBI chr10:105,903,307...105,911,845
Ensembl chr10:105,903,237...105,912,026
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G |
Mir27a |
microRNA 27a |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:25226451 |
RGD:14695552 |
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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G |
Nr0b2 |
nuclear receptor subfamily 0, group B, member 2 |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:18578998 |
RGD:2311605 |
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
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IDA |
|
RGD |
PMID:15644430 |
RGD:1625202 |
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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G |
Slc22a1 |
solute carrier family 22 member 1 |
|
IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:19002567 |
RGD:7243885 |
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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G |
Slc22a2 |
solute carrier family 22 member 2 |
|
IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:19002567 |
RGD:7243885 |
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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G |
Tjp2 |
tight junction protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614073 |
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NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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G |
Hdac3 |
histone deacetylase 3 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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G |
Il18 |
interleukin 18 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23627780 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28851649 |
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NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 |
OMIM ClinVar |
PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:25741868 PMID:26126923 PMID:28492532 PMID:33223529 More...
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NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24402531 PMID:24991443 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:28492532 PMID:28733223 PMID:29412511 PMID:30091450 PMID:30934130 PMID:32581362 PMID:32808743 More...
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NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
OMIM ClinVar |
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24806754 PMID:24914347 PMID:25741868 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26900700 PMID:27256251 PMID:28492532 PMID:28733223 PMID:28776642 PMID:28924228 PMID:31000363 PMID:31538484 PMID:32581362 More...
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree |
ClinVar |
PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 PMID:16133180 PMID:19914852 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Klatskin tumor |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Arid1a |
AT-rich interaction domain 1A |
disease_progression |
ISO |
DNA:deletions |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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G |
Gata6 |
GATA binding protein 6 |
sexual_dimorphism |
ISO |
DNA:mutations |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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G |
Kmt2c |
lysine methyltransferase 2C |
onset |
ISO |
DNA:mutations |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kras |
KRAS proto-oncogene, GTPase |
disease_progression |
ISO |
DNA:mutations |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chr 4:178,185,418...178,218,484
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G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
sexual_dimorphism |
ISO |
DNA:substitutions, insertion/deletions: (human) |
RGD |
PMID:33387086 PMID:33387086 |
RGD:126848756, RGD:126848756 |
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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G |
Vps50 |
VPS50 subunit of EARP/GARPII complex |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS |
OMIM ClinVar |
PMID:34037727 |
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NCBI chr 4:31,484,424...31,585,617
Ensembl chr 4:31,484,463...31,585,617
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G |
Cldn1 |
claudin 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome DNA:deletion, nonsense mutation:exon:200_201delTT(human) |
OMIM ClinVar RGD |
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 PMID:15521008 More...
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RGD:11341732 |
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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G |
Cldn16 |
claudin 16 |
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ISO |
ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome |
ClinVar |
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 |
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NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22022477 |
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Adm |
adrenomedullin |
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IEP |
protein:increased expression:plasma: |
RGD |
PMID:20132852 |
RGD:7364952 |
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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G |
Alb |
albumin |
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IEP |
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RGD |
PMID:9161836 |
RGD:11036102 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IDA |
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RGD |
PMID:15573249 |
RGD:8549649 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Cd14 |
CD14 molecule |
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IEP |
mRNA:increased expression:ileum, liver, lung, spleen |
RGD |
PMID:25093541 |
RGD:9685190 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cfh |
complement factor H |
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IEP |
protein:decreased expression:plasma: |
RGD |
PMID:20132852 |
RGD:7364952 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Hmbs |
hydroxymethylbilane synthase |
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EXP |
Protein:increased activity:liver (rat) |
RGD |
PMID:3963818 |
RGD:4144803 |
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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G |
Hmgb1 |
high mobility group box 1 |
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IEP |
protein:increased expression:liver, plasma |
RGD |
PMID:21737101 |
RGD:10402168 |
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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G |
Irf5 |
interferon regulatory factor 5 |
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IEP |
mRNA,protein:increased expression:liver,nucleus: |
RGD |
PMID:21737101 |
RGD:10402168 |
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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G |
Lbp |
lipopolysaccharide binding protein |
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IEP |
mRNA:increased expression:liver |
RGD |
PMID:25093541 |
RGD:9685190 |
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
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G |
Pcna |
proliferating cell nuclear antigen |
treatment |
IEP |
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RGD |
PMID:12917765 |
RGD:10448973 |
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Tlr2 |
toll-like receptor 2 |
treatment |
ISO |
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RGD |
PMID:29366780 |
RGD:15090858 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Ucp2 |
uncoupling protein 2 |
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IEP |
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RGD |
PMID:19632092 |
RGD:7204429 |
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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G |
Unc45a |
unc-45 myosin chaperone A |
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ISO |
ClinVar Annotator: match by term: OSTEOOTOHEPATOENTERIC SYNDROME |
OMIM ClinVar |
PMID:29429573 |
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NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:28660384 |
RGD:21203516 |
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human) |
CTD RGD |
PMID:20040336 PMID:30682444 PMID:18671305 |
RGD:14694982 |
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver |
CTD RGD |
PMID:15542527 PMID:15770136 |
RGD:14700810 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15542527 |
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NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Ace |
angiotensin I converting enzyme |
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IEP |
mRNA:increased expression:liver |
RGD |
PMID:19389807 |
RGD:2325226 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Ace2 |
angiotensin I converting enzyme 2 |
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IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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G |
Agt |
angiotensinogen |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Aqp4 |
aquaporin 4 |
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IEP |
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RGD |
PMID:20451280 |
RGD:5148030 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver: |
CTD RGD |
PMID:12126966 PMID:15770052 |
RGD:14995336 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Ccn2 |
cellular communication network factor 2 |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:19371232 |
RGD:2314517 |
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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G |
Cd80 |
Cd80 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Cdh5 |
cadherin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
protein:increased expression:epithelial cell: |
RGD |
PMID:18456456 |
RGD:8662434 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cenpb |
centromere protein B |
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ISO |
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RGD |
PMID:8911074 |
RGD:27226708 |
NCBI chr 3:118,396,987...118,399,788
Ensembl chr 3:118,388,546...118,400,470
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G |
Clec16a |
C-type lectin domain containing 16A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
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G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
IEP |
|
RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
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IEP |
protein:increased expression:liver |
RGD |
PMID:26627607 |
RGD:11528851 |
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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G |
Cpeb4 |
cytoplasmic polyadenylation element binding protein 4 |
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ISO |
protein:increased expression:liver |
RGD |
PMID:26627607 |
RGD:11528851 |
NCBI chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility disease_progression no_association |
ISO |
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human) DNA:SNP:CDS:60G>A(rs3087243)(human) DNA:SNPs: :rs231775, rs3087243, rs231725 (human) DNA:SNP:CDS:49A>G(human) |
RGD |
PMID:10782900 PMID:16584111 PMID:21594562 PMID:17482523 |
RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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G |
Cygb |
cytoglobin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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G |
Dag1 |
dystroglycan 1 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:12177244 |
RGD:2314895 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Dennd1b |
DENN domain containing 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601
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G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:28263100 |
RGD:38500241 |
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15651265 PMID:15651265 |
RGD:9685530 |
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:lymphocyte: |
RGD |
PMID:26429926 |
RGD:14700711 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Hamp |
hepcidin antimicrobial peptide |
treatment |
ISO IEP |
mRNA:decreased expression:liver |
RGD |
PMID:19652645 PMID:23704825 |
RGD:11041639, RGD:11041732 |
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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G |
Hhip |
Hedgehog-interacting protein |
|
IEP |
mRNA:decreased expression: |
RGD |
PMID:18375471 |
RGD:11552599 |
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22271822 |
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NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmox1 |
heme oxygenase 1 |
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IEP |
mRNA, protein:increased expression:liver, lung |
RGD |
PMID:12114196 |
RGD:625603 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
ISO |
associated with Graft vs Host Disease; |
RGD |
PMID:10051478 |
RGD:11520783 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igfbp1 |
insulin-like growth factor binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
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G |
Il10 |
interleukin 10 |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il12a |
interleukin 12A |
susceptibility treatment |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype: :rs6441286, rs574808(human) DNA:SNP: :rs62270414(human) DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) |
CTD RGD |
PMID:20639880 PMID:19458352 PMID:23433321 PMID:27175695 |
RGD:25440500, RGD:25440498, RGD:25440489 |
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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G |
Il12b |
interleukin 12B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20639880 |
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NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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G |
Il12rb1 |
interleukin 12 receptor subunit beta 1 |
susceptibility |
IEP |
RNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:23910013 |
RGD:14700865 |
NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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G |
Il4 |
interleukin 4 |
treatment |
IEP |
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RGD |
PMID:20442198 |
RGD:7829828 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il7r |
interleukin 7 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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G |
Jak2 |
Janus kinase 2 |
treatment |
IMP |
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RGD |
PMID:24619965 |
RGD:10403061 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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G |
Krt18 |
keratin 18 |
severity |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:26110613 |
RGD:18337483 |
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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G |
Krt7 |
keratin 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21681009 |
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NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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G |
Lbr |
lamin B receptor |
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ISO |
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RGD |
PMID:8550049 |
RGD:9588625 |
NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
Lep |
leptin |
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ISO |
protein:decreased expression:serum: |
RGD |
PMID:16093869 |
RGD:10411894 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:16093869 |
RGD:10411894 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lox |
lysyl oxidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023247 |
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NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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G |
Loxl2 |
lysyl oxidase-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023247 |
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NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
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G |
Map3k14 |
mitogen-activated protein kinase kinase kinase 14 |
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ISS |
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 |
MouseDO |
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NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
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G |
Mapk14 |
mitogen activated protein kinase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
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IEP |
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RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
severity |
ISO |
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RGD |
PMID:19208365 |
RGD:14694826 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mir21 |
microRNA 21 |
severity |
ISO |
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RGD |
PMID:28886078 |
RGD:21408577 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir223 |
microRNA 223 |
severity |
ISO |
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RGD |
PMID:28886078 |
RGD:21408577 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20639879 |
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NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp13 |
matrix metallopeptidase 13 |
treatment |
IEP |
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RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP |
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RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
IEP |
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RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP |
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RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
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RGD |
PMID:18507686 |
RGD:2324885 |
NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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G |
Nos2 |
nitric oxide synthase 2 |
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IEP ISO |
protein:increased expression, increased activity:brain (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30026087 PMID:21903766 |
RGD:5509055 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
susceptibility |
ISO |
mRNA,protein:decreased expression:liver (human) |
RGD |
PMID:29968724 |
RGD:14928336 |
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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