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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Fgf2 |
fibroblast growth factor 2 |
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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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Unc45a |
unc-45 myosin chaperone A |
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ISO |
ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
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RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Ifitm1 |
interferon induced transmembrane protein 1 |
disease_progression |
ISO |
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RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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Jag1 |
jagged canonical Notch ligand 1 |
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ISO ISS |
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC OMIM:118450 | OMIM:610205 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 MouseDO CTD 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:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12297837 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 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:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25326637 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:30651579 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34399559 PMID:34746741 PMID:36973604 PMID:37600608 PMID:11745040 PMID:16875832 PMID:21714972 More...
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RGD:1580651, RGD:6482237, RGD:6482232 |
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Notch2 |
notch receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 |
CTD ClinVar RGD |
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 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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Ankef1 |
ankyrin repeat and EF-hand domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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Hao1 |
hydroxyacid oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721
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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: Alagille syndrome due to a JAG1 point mutation |
OMIM ClinVar |
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:11181574 PMID:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 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:21752016 PMID:22040217 PMID:22382802 PMID:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24684524 PMID:24748328 PMID:25260786 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29453956 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34399559 PMID:34746741 PMID:36474027 PMID:36973604 PMID:37600608 More...
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NCBI chr 3:124,406,783...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 due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:123,372,462...123,384,973
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 due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 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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Pak5 |
p21 (RAC1) activated kinase 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 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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Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 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 due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 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 due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 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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Tmx4 |
thioredoxin-related transmembrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641
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Notch2 |
notch receptor 2 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 2 |
OMIM ClinVar |
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:30143558 PMID:31749841 PMID:32164334 PMID:32368696 More...
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD ClinVar MouseDO |
PMID:20190753 PMID:25741868 |
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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 ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD MouseDO 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:9536098 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17576681 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:29907094 PMID:31343487 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 PMID:31479177 |
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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:11815775 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:15975683 PMID:16199547 PMID:17592371 PMID:19260995 PMID:19731236 PMID:19918981 PMID:20232290 PMID:20414253 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25421123 PMID:25737299 PMID:25741868 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:26879107 PMID:27050426 PMID:27530795 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:32650689 PMID:32695736 PMID:32942997 PMID:33437900 PMID:33666275 PMID:34016879 PMID:35416773 PMID:35431768 PMID:35894240 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:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:14672610 PMID:15300568 PMID:15317749 PMID:15791618 PMID:16039748 PMID:16199547 PMID:16290310 PMID:16641580 PMID:16868810 PMID:16871584 PMID:17241866 PMID:17576681 PMID:17855769 PMID:17947449 PMID:18395098 PMID:18692205 PMID:18798335 PMID:19101985 PMID:19750581 PMID:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:22609309 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23437912 PMID:23750872 PMID:24115678 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24530123 PMID:24627769 PMID:24711118 PMID:24969679 PMID:24991443 PMID:25716872 PMID:25741868 PMID:25771912 PMID:25847299 PMID:26019043 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27153395 PMID:27239116 PMID:27368585 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28425419 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29316097 PMID:29404523 PMID:29412511 PMID:29625052 PMID:29992621 PMID:30210030 PMID:30366773 PMID:31015375 PMID:31091858 PMID:31450232 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32581362 PMID:32793533 PMID:32808743 PMID:32860008 PMID:32917322 PMID:32942997 PMID:33201677 PMID:33215027 PMID:33915153 PMID:34008892 PMID:34016879 PMID:34942279 PMID:35257483 PMID:35780807 PMID:37471416 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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Mir31 |
microRNA 31 |
exacerbates |
ISO |
RNA:increased expression:bile duct (human) |
RGD |
PMID:29860474 |
RGD:152998990 |
NCBI chr 5:103,599,038...103,599,143
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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 |
PMID:33357406 |
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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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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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G |
Fech |
ferrochelatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10464147 |
|
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
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G |
Magee1 |
MAGE family member E1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30515189 |
|
NCBI chr X:70,189,242...70,192,789
Ensembl chr X:70,189,187...70,192,810
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G |
Asph |
aspartate-beta-hydroxylase |
|
ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:16673309 |
RGD:2325824 |
NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876
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|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17341899 |
|
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
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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G |
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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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
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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G |
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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G |
Mki67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
|
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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G |
Muc16 |
mucin 16, cell surface associated |
|
ISO |
protein:increased expression:serum,bile |
RGD |
PMID:1657243 |
RGD:2325134 |
NCBI chr 8:16,164,531...16,323,126
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|
G |
Muc4 |
mucin 4, cell surface associated |
disease_progression |
ISO |
protein:increased expression:bile duct |
RGD |
PMID:16857800 |
RGD:2324929 |
NCBI chr11:68,008,245...68,053,242
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G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
|
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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G |
Runx3 |
RUNX family transcription factor 3 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:15471559 |
RGD:2324957 |
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
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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G |
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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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
|
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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G |
Ggt1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
|
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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G |
Gli2 |
GLI family zinc finger 2 |
disease_progression |
ISO |
|
RGD |
PMID:25746691 |
RGD:12802349 |
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Hamp |
hepcidin antimicrobial peptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16627878 |
|
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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G |
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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G |
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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G |
Mir145 |
microRNA 145 |
|
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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G |
Mir155 |
microRNA 155 |
|
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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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:25487473 |
RGD:12832754 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Shh |
sonic hedgehog signaling molecule |
disease_progression |
ISO |
|
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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G |
Sox17 |
SRY-box transcription factor 17 |
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ISS |
|
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 |
|
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 |
|
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 |
Alb |
albumin |
disease_progression |
ISO |
|
RGD |
PMID:20358256 |
RGD:2325676 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Ctps1 |
CTP synthase 1 |
|
ISO |
mRNA:increased expression:biliary tract neoplasm (human) |
RGD |
PMID:12819026 |
RGD:2317903 |
NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
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G |
Elf3 |
E74 like ETS transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481
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G |
Faslg |
Fas ligand |
|
ISO |
protein:decreased expression:serum associated with Biliary Tract Disease;protein:decreased expression:serum |
RGD |
PMID:15138553 PMID:15287856 |
RGD:2317743, RGD:2317742 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Hgf |
hepatocyte growth factor |
|
ISO |
mRNA:increased expression: : |
RGD |
PMID:12819026 |
RGD:2317903 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Il4 |
interleukin 4 |
|
ISO |
|
RGD |
PMID:18798553 |
RGD:2317263 |
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 |
|
RGD |
PMID:18159174 |
RGD:2317165 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Mdm2 |
MDM2 proto-oncogene |
|
ISO |
protein:increased expression:biliary epithelium (human) |
RGD |
PMID:16505435 |
RGD:2317415 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Mtap |
methylthioadenosine phosphorylase |
|
ISO |
|
RGD |
PMID:16373701 |
RGD:2317953 |
NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
|
RGD |
PMID:19129927 |
RGD:2317987 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc4 |
mucin 4, cell surface associated |
|
ISO |
protein:increased expression:bile,biliary tract |
RGD |
PMID:18475301 |
RGD:2324916 |
NCBI chr11:68,008,245...68,053,242
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:18475301 |
RGD:2324916 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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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 |
Ift56 |
intraflagellar transport 56 |
|
ISO |
ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31595528 PMID:32617964 PMID:34177428 |
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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 |
Angpt2 |
angiopoietin 2 |
|
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 |
Ift56 |
intraflagellar transport 56 |
|
ISO |
ClinVar Annotator: match by term: Caroli disease |
ClinVar |
PMID:25741868 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 |
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:29068549 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:35715958 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 |
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 |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISS |
|
MouseDO |
|
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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 |
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 |
|
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:17545000 PMID:20431764 |
RGD:2325682, RGD:2325680, RGD:2325679 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Asph |
aspartate-beta-hydroxylase |
|
ISO |
|
RGD |
PMID:21898484 |
RGD:6902945 |
NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876
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G |
Atg101 |
autophagy related 101 |
disease_progression |
ISO |
|
RGD |
PMID:35592424 |
RGD:153350091 |
NCBI chr 7:132,398,477...132,407,643
Ensembl chr 7:132,398,483...132,407,633
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
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 |
Birc6 |
baculoviral IAP repeat-containing 6 |
ameliorates |
ISO |
mRNA:increased expression:bile duct (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
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 |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:25741868 |
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NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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G |
Cycs |
cytochrome c, somatic |
|
ISO |
|
RGD |
PMID:19788692 |
RGD:2317615 |
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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G |
Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
|
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 |
Egf |
epidermal growth factor |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:25741868 PMID:28492532 |
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NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Cholangiocarcinoma |
CTD ClinVar |
PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Epo |
erythropoietin |
|
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 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 |
|
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 |
|
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 |
|
ISO |
|
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 |
|
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 |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 |
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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 |
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 |
Il10 |
interleukin 10 |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
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NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il19 |
interleukin 19 |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
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NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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G |
Il1b |
interleukin 1 beta |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:25741868 |
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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 |
Il1r2 |
interleukin 1 receptor type 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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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 |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17621267 PMID:17623760 PMID:18550579 PMID:15011822 PMID:28925763 More...
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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 |
Ins2 |
insulin 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
|
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 |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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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 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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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 |
Mfsd4a |
major facilitator superfamily domain containing 4A |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
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 |
Mir494 |
microRNA 494 |
severity exacerbates |
ISO |
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RGD |
PMID:30314946 PMID:30314946 |
RGD:156420141, RGD:156420141 |
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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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 2:174,635,989...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 |
Muc17 |
mucin 17, cell surface associated |
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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 |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc3a |
mucin 3A, cell surface associated |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr12:19,450,679...19,454,753
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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...68,053,242
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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 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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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 |
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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 |
Panx2 |
pannexin 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
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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 |
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NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
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G |
Pes1 |
pescadillo ribosomal biogenesis factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34845814 |
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NCBI chr14:78,850,754...78,867,134
Ensembl chr14:78,850,709...78,867,134
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G |
Pir |
pirin |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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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 |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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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 |
|
NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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G |
Prrg4 |
proline rich and Gla domain 4 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 3:91,214,646...91,243,347
Ensembl chr 3:91,214,653...91,243,273
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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 |
Prss56 |
serine protease 56 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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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 1:230,630,443...230,697,070
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 ClinVar Annotator: match by term: Cholangiocarcinoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16818635 PMID:19621664 |
RGD:2317180 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Rassf8 |
Ras association domain family member 8 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690
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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 |
Rnf39 |
ring finger protein 39 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr20:1,604,794...1,610,283
Ensembl chr20:1,604,794...1,610,283
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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...72,537,301
Ensembl chr10:72,464,348...72,536,977
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G |
Robo2 |
roundabout guidance receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
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 |
|
ISO |
protein:decreased expression:bile duct |
RGD |
PMID:19827872 |
RGD:2324955 |
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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|
G |
Slc4a4 |
solute carrier family 4 member 4 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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G |
Slc5a5 |
solute carrier family 5 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17408651 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
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 |
Sox2 |
SRY-box transcription factor 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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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 |
|
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 3:105,056,293...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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 PMID:22561520 |
|
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ttr |
transthyretin |
|
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 |
|
ISO |
|
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 |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
|
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Wdhd1 |
WD repeat and HMG-box DNA binding protein 1 |
ameliorates |
ISO |
|
RGD |
PMID:30314946 |
RGD:156420141 |
NCBI chr15:20,478,310...20,523,106
Ensembl chr15:20,489,291...20,523,096
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G |
Wnt9a |
Wnt family member 9A |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr10:44,094,140...44,121,134
Ensembl chr10:44,094,140...44,121,133
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G |
Cd40lg |
CD40 ligand |
treatment |
IDA |
|
RGD |
PMID:23820408 |
RGD:11352285 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
IEP |
|
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 |
|
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 |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8698195 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15816485 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
|
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Itgb6 |
integrin subunit beta 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
|
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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G |
Muc17 |
mucin 17, cell surface associated |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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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|
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G |
Pla2g2a |
phospholipase A2 group IIA |
|
ISO |
|
RGD |
PMID:9695991 |
RGD:6482724 |
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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|
G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
susceptibility |
ISO |
associated with Anemia, Sickle Cell;DNA:polymorphism:promoter: |
RGD |
PMID:18392554 |
RGD:10768868 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Aqp1 |
aquaporin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
|
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 |
|
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 |
|
NCBI chr 1:196,382,857...196,383,668
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 |
|
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 |
|
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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G |
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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G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12902918 |
|
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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G |
Cckar |
cholecystokinin A receptor |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle |
RGD |
PMID:15908333 |
RGD:2314139 |
NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
mRNA, protein:altered expression:liver (human) |
RGD |
PMID:12184527 |
RGD:21408573 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
|
ISO |
associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human) |
RGD |
PMID:16381022 |
RGD:2317619 |
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Soat2 |
sterol O-acyltransferase 2 |
susceptibility |
ISO |
|
RGD |
PMID:11100118 |
RGD:1556516 |
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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G |
Sqle |
squalene epoxidase |
|
ISO |
|
RGD |
PMID:14684588 |
RGD:1581398 |
NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
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G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
ISO |
|
RGD |
PMID:15062879 |
RGD:1581417 |
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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|
G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
susceptibility |
ISO |
associated with Spherocytosis, Hereditary;DNA:insertion:promoter associated with Alpha-Thalassemia;DNA:repeat:promoter:(TA) associated with Beta-Thalassemia; DNA:mutation,repeat:cds,promoter; p. G71R,(TA) (human) |
RGD |
PMID:10498597 PMID:17593033 PMID:18081723 |
RGD:6482853, RGD:10769341, RGD:10768828 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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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, sub-family B member 1B |
|
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 |
|
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 |
|
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 |
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:99,131,985...99,133,417
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 |
Bmal1 |
basic helix-loop-helix ARNT like 1 |
|
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 |
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 |
C14h4orf19 |
similar to human chromosome 4 open reading frame 19 |
|
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 |
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 |
|
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 |
|
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 |
|
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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|
G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
|
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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|
G |
Cyp3a2 |
cytochrome P450, family 3, subfamily a, polypeptide 2 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr12:9,207,978...9,230,064
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 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 |
|
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 |
|
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 |
|
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 |
|
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 chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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|
G |
Ehhadh |
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Cholestasis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188
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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 |
|
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 |
|
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 |
|
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
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 2:184,065,944...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 1:182,412,216...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 |
|
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 |
|
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 |
|
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Invs |
inversin |
|
ISO |
|
RGD |
PMID:10421642 |
RGD:155791685 |
NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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G |
Kank1 |
KN motif and ankyrin repeat domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
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 |
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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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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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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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
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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...60,621,712
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 |
Nphp4 |
nephrocystin 4 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis |
ClinVar |
PMID:15776426 PMID:22550138 PMID:25741868 PMID:28492532 PMID:28700940 |
|
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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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...95,047,358
Ensembl chr 1:95,041,967...95,047,377
|
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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
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|
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
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|
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 member A |
|
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 |
SLC51 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 PMID:22461449 |
|
NCBI chr 8:65,931,891...65,939,953
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
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|
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...104,680,915
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:28492532 PMID:32124521 PMID:32759993 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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|
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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:28442542 PMID:28492532 PMID:29186038 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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|
G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: COACH syndrome |
ClinVar |
PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532 |
|
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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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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|
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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:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:28492532 PMID:28518168 PMID:29146704 PMID:29620724 PMID:32461654 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 |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31390572 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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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
OMIM ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 PMID:17160906 PMID:17377820 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:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27491411 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:34675960 PMID:36617405 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 2 |
OMIM ClinVar |
PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:32488064 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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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 3 |
OMIM ClinVar |
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18565097 PMID:19430481 PMID:19574260 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 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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Apob |
apolipoprotein B |
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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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Fscn1 |
fascin actin-bundling protein 1 |
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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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Msln |
mesothelin |
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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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Mtap |
methylthioadenosine phosphorylase |
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ISO |
DNA, protein:deletion, decreased expression:common bile duct: |
RGD |
PMID:15662124 |
RGD:2317954 |
NCBI chr 5:103,874,460...103,920,684
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 2:174,635,989...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...68,053,242
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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 1:196,864,336...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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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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Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
ClinVar Annotator: match by term: 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 PMID:28492532 PMID:34627351 More...
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NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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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 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 PMID:19175828 PMID:20522910 PMID:21185810 PMID:23679950 PMID:25304492 PMID:25741868 PMID:28492532 PMID:30809085 PMID:31450232 PMID:37314652 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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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21541746 PMID:21567895 PMID:21623769 PMID:22384504 PMID:23812641 PMID:24117163 PMID:24641183 PMID:24927729 PMID:25741868 PMID:26467025 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29228183 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
OMIM CTD 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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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 ISS |
ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 OMIM:616278 |
OMIM ClinVar MouseDO |
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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Acox2 |
acyl-CoA oxidase 2 |
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ISO |
ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27647924 PMID:27884763 PMID:28492532 PMID:35395098 PMID:35775617 More...
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NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
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Bap1 |
BRCA1 associated deubiquitinase 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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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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Rac1 |
Rac family small GTPase 1 |
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ISO |
protein:increased expression:mucosa (human) |
RGD |
PMID:21537609 |
RGD:153350126 |
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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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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Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Extrahepatic bile duct cancer |
ClinVar |
PMID:25741868 |
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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: Extrahepatic 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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Xpo1 |
exportin 1 |
disease_progression |
ISO |
protein:increased expression:extrahepatic bile duct (human) |
RGD |
PMID:27279267 |
RGD:151665800 |
NCBI chr14:97,233,282...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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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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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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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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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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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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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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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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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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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 chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...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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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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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 |
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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 |
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 |
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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 chr10:72,594,883...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...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
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 |
|
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 |
Oprm1 |
opioid receptor, mu 1 |
|
IEP |
mRNA:decreased expression:hypothalamus, hippocampus |
RGD |
PMID:25290008 |
RGD:401842371 |
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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|
G |
Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
IMP |
|
RGD |
PMID:18466260 |
RGD:10449503 |
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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G |
Ptn |
pleiotrophin |
|
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 |
|
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Setd7 |
SET domain containing 7, histone lysine methyltransferase |
treatment |
IMP |
|
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 |
|
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 |
|
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 |
Tjp2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial primary biliary cirrhosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32439973 |
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NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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G |
Ctsb |
cathepsin B |
|
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 |
Ace |
angiotensin I converting enzyme |
|
ISO |
DNA:polymorphism: :rs4646994 (human) |
RGD |
PMID:20438364 |
RGD:2325207 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Cdk1 |
cyclin-dependent kinase 1 |
|
ISO |
protein:increased expression:gallbladder |
RGD |
PMID:15017593 |
RGD:2722465 |
NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Ifitm1 |
interferon induced transmembrane protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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G |
Apc |
APC regulator of WNT signaling pathway |
disease_progression |
ISO |
DNA:SNP::rs11954856(human) |
RGD |
PMID:26715268 |
RGD:151356500 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Apob |
apolipoprotein B |
susceptibility |
ISO |
DNA:SNP: :rs693 (human) |
RGD |
PMID:20082485 PMID:17696941 |
RGD:2325761, RGD:2325764 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
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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G |
Axin2 |
axin 2 |
disease_progression |
ISO |
DNA:SNP::s4791171(human) |
RGD |
PMID:26715268 |
RGD:151356500 |
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
|
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
mRNA:increased expression:gallbladder |
RGD |
PMID:18497548 |
RGD:2324871 |
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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G |
Calr |
calreticulin |
exacerbates |
ISO |
mRNA, protein:increased expression:gall bladder (human) |
RGD |
PMID:33591948 |
RGD:150521682 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
onset |
ISO |
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) |
RGD |
PMID:18405329 |
RGD:2317570 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 More...
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
susceptibility |
ISO |
DNA:transition:5' utr:-34T>C rs743572 (human) |
RGD |
PMID:16381022 |
RGD:2317619 |
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
DNA:transition: :6235T>C (human) DNA:polymorphism: :p.I462V (human) |
RGD |
PMID:18287863 PMID:18990008 |
RGD:2317212, RGD:2317211 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
disease_progression |
ISO |
|
RGD |
PMID:16619549 |
RGD:2317631 |
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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G |
Egf |
epidermal growth factor |
susceptibility |
ISO |
DNA:SNP: :+61A>G (rs4444903)(human) |
RGD |
PMID:8093356 PMID:18571008 |
RGD:2317646, RGD:2317641 |
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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G |
Gli1 |
GLI family zinc finger 1 |
disease_progression |
ISO |
DNA:SNP::rs2228226(human) |
RGD |
PMID:26715268 |
RGD:151356500 |
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
|
RGD |
PMID:26925680 |
RGD:14700928 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
exacerbates |
ISO |
protein:increased expression:gall bladder (human) |
RGD |
PMID:26318166 |
RGD:11528126 |
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
DNA:missense mutations, frameshift mutations:cds:multiple (human) |
RGD |
PMID:18692501 |
RGD:6893398 |
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 PMID:16361624 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:23014527 PMID:23182985 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25741868 PMID:26242988 PMID:28492532 PMID:31666701 PMID:35658005 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Lrp1b |
LDL receptor related protein 1B |
ameliorates |
ISO |
DNA:mutations:multiple: (human) |
RGD |
PMID:32898339 |
RGD:150429787 |
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23888070 PMID:23946963 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Rbp4 |
retinol binding protein 4 |
disease_progression |
ISO |
associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) |
RGD |
PMID:37273108 |
RGD:329849105 |
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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G |
Rictor |
RPTOR independent companion of MTOR, complex 2 |
|
ISO |
DNA:CNV, amplification:exon (human) |
RGD |
PMID:24508317 |
RGD:152995522 |
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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G |
Smad4 |
SMAD family member 4 |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 PMID:22810475 PMID:28492532 More...
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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 |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8276238 PMID:8425176 PMID:8527048 PMID:8688334 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11370630 PMID:11782540 PMID:11793474 PMID:12406399 PMID:12506399 PMID:12826609 PMID:14673037 PMID:14743206 PMID:15925506 PMID:15993273 PMID:16199547 PMID:16489069 PMID:16818505 PMID:16861262 PMID:16969106 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17881637 PMID:18978813 PMID:19378321 PMID:19556618 PMID:19711436 PMID:19714490 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20436704 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21601526 PMID:21665182 PMID:21761402 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24382691 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25293557 PMID:25544776 PMID:25587027 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26718964 PMID:26787237 PMID:26911350 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28160093 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30322717 PMID:30327374 PMID:30720243 PMID:31105275 PMID:31127191 PMID:31742824 PMID:31775759 PMID:32187361 PMID:32817165 PMID:33471991 PMID:34240179 PMID:36988593 More...
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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 |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:polymorphisms: :p.R194W, p.R399Q (human) |
RGD |
PMID:19266243 |
RGD:2317128 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
|
ISO |
|
RGD |
PMID:7795450 |
RGD:2317512 |
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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G |
Actr3 |
actin related protein 3 |
severity |
ISO |
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) |
RGD |
PMID:23320827 |
RGD:11571623 |
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
severity |
ISO |
|
RGD |
PMID:21545221 |
RGD:9684943 |
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
exacerbates |
ISO |
mRNA:increased expression:gall bladder (human) |
RGD |
PMID:28295868 |
RGD:153297817 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Cfl1 |
cofilin 1 |
severity |
ISO |
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) |
RGD |
PMID:23320827 |
RGD:11571623 |
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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G |
Clptm1l |
CLPTM1-like |
susceptibility |
ISO |
DNA:SNP, haplotype: :rs401681(human) |
RGD |
PMID:29450669 |
RGD:150530629 |
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Carcinoma of gallbladder |
ClinVar |
PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532 |
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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 |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Carcinoma of gallbladder |
ClinVar |
PMID:26619011 |
|
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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G |
Gpx3 |
glutathione peroxidase 3 |
severity |
ISO |
protein:decreased expression:gallbladder (human) |
RGD |
PMID:24167362 |
RGD:151665515 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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G |
Il10 |
interleukin 10 |
susceptibility |
ISO |
associated with Cholelithiasis |
RGD |
PMID:19065724 |
RGD:2317654 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Mir155 |
microRNA 155 |
disease_progression |
ISO |
miRNA:increased expression:gall bladder |
RGD |
PMID:26885061 |
RGD:21079444 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mtus1 |
microtubule associated scaffold protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:31882471 |
RGD:25330344 |
NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Carcinoma of gallbladder |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:32778138 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ptch1 |
patched 1 |
disease_progression |
ISO |
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RGD |
PMID:22407314 |
RGD:150523794 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rac1 |
Rac family small GTPase 1 |
exacerbates |
ISO |
protein:increased expression:gallbladder (human) |
RGD |
PMID:21853342 |
RGD:155230819 |
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Tert |
telomerase reverse transcriptase |
susceptibility |
ISO |
DNA:SNP, haplotype: :rs2736100(human) |
RGD |
PMID:29450669 |
RGD:150530629 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgfa |
transforming growth factor alpha |
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ISO |
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RGD |
PMID:9542514 |
RGD:2317470 |
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Tjp1 |
tight junction protein 1 |
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ISO |
protein:decreased expression:gallbladder |
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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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Carcinoma of gallbladder |
ClinVar |
PMID:1565143 PMID:8023157 PMID:8062826 PMID:8164043 PMID:8336941 PMID:8401536 PMID:8633021 PMID:8825920 PMID:9049183 PMID:9049184 PMID:9290701 PMID:9546439 PMID:9632751 PMID:10616528 PMID:11370630 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:12007217 PMID:12509279 PMID:12726864 PMID:12826609 PMID:15077194 PMID:15607980 PMID:15607981 PMID:16209708 PMID:16312222 PMID:16401470 PMID:16633321 PMID:16778209 PMID:16818505 PMID:16861262 PMID:17311302 PMID:17530187 PMID:17606709 PMID:17875924 PMID:18511570 PMID:18555592 PMID:19462533 PMID:19556618 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20586629 PMID:21113594 PMID:21343334 PMID:21519010 PMID:21590121 PMID:21761402 PMID:22006311 PMID:22186996 PMID:22427690 PMID:22553421 PMID:22887876 PMID:22915647 PMID:23031740 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23713777 PMID:23792586 PMID:24573247 PMID:25433984 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26467025 PMID:26497680 PMID:26585234 PMID:26619011 PMID:26911350 PMID:27189670 PMID:27276561 PMID:27463065 PMID:27557517 PMID:27680515 PMID:27813088 PMID:27895058 PMID:27959731 PMID:28279309 PMID:28369373 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28975465 PMID:29070607 PMID:29979965 PMID:30216591 PMID:30224644 PMID:30327374 PMID:30730202 PMID:31119730 PMID:31296311 PMID:31775759 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33245408 PMID:33300245 PMID:33633026 PMID:33840814 PMID:35820297 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tymp |
thymidine phosphorylase |
disease_progression |
ISO |
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RGD |
PMID:18946757 |
RGD:2325157 |
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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Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
ameliorates |
ISO |
human cell line in a mouse model |
RGD |
PMID:30775814 |
RGD:151665192 |
NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
ClinVar Annotator: match by term: Gallbladder disease 1 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis DNA:missense mutation:cds:p.Thr175Ala(human) |
OMIM ClinVar RGD |
PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:27256251 PMID:28012258 PMID:28220208 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:30449124 PMID:31181191 PMID:31538484 PMID:31538486 PMID:32581362 PMID:32893960 PMID:33201677 PMID:33390354 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:36277956 PMID:24914347 More...
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RGD:14694981 |
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Gallbladder disease 4 |
ClinVar |
PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8 |
ATP binding cassette subfamily G member 8 |
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ISO |
ClinVar Annotator: match by term: Gallbladder disease 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4360855 PMID:11099417 PMID:11452359 PMID:11893785 PMID:12124998 PMID:15054092 PMID:15375183 PMID:16029460 PMID:17632509 PMID:20854103 PMID:21039838 PMID:21274884 PMID:22898925 PMID:23685560 PMID:24497850 PMID:24657386 PMID:25741868 PMID:28492532 PMID:28521186 PMID:29590070 PMID:30241732 PMID:31901240 PMID:32041611 PMID:32088153 PMID:32702746 PMID:33228147 PMID:33269076 PMID:34650182 PMID:36973604 More...
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NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:15447999 |
RGD:2317199 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16904648 |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cckar |
cholecystokinin A receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25025063 |
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NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
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Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24997986 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24997986 |
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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 |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24997986 PMID:24997986 |
RGD:126781772 |
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24997986 |
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NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
DNA:SNP: :p.D312N (rs1799793) (human) |
RGD |
PMID:21283657 |
RGD:5688734 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Faslg |
Fas ligand |
disease_progression |
ISO |
protein:increased expression:gallbladder |
RGD |
PMID:15968727 |
RGD:2317739 |
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 |
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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 |
Fscn1 |
fascin actin-bundling protein 1 |
severity |
ISO |
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RGD |
PMID:19259612 |
RGD:2317784 |
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:SNP:cds:p.I105V (rs1695) (human) |
RGD |
PMID:16760134 |
RGD:2317808 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hgf |
hepatocyte growth factor |
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ISO |
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RGD |
PMID:15118756 |
RGD:2317899 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Il1b |
interleukin 1 beta |
susceptibility |
ISO |
associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human) |
RGD |
PMID:18940468 |
RGD:2317216 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il4r |
interleukin 4 receptor |
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ISO |
mRNA:increased expression:gallbladder |
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 |
Keap1 |
Kelch-like ECH-associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18692501 |
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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 |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24997986 |
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NCBI chr 4:178,185,418...178,218,484
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Met |
MET proto-oncogene, receptor tyrosine kinase |
severity |
ISO |
protein:increased expression:gallbladder (human) |
RGD |
PMID:19956499 |
RGD:2317582 |
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 |
disease_progression resistance |
ISO |
protein:decreased expression:tumor (human) DNA:transition:exon:EX5-25C>T rs12917 (human) |
RGD |
PMID:18158568 PMID:18708406 |
RGD:2317637, RGD:2317636 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mmp2 |
matrix metallopeptidase 2 |
disease_progression |
ISO |
protein:increased expression:gallbladder |
RGD |
PMID:18665467 |
RGD:2325743 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Muc1 |
mucin 1, cell surface associated |
severity |
ISO |
mRNA,protein:increased expression:gallbladder |
RGD |
PMID:10398137 |
RGD:2324857 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc16 |
mucin 16, cell surface associated |
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ISO |
protein:increased expression:serum |
RGD |
PMID:17542293 |
RGD:2325132 |
NCBI chr 8:16,164,531...16,323,126
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Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
protein:increased expression:gallbladder |
RGD |
PMID:15260848 |
RGD:2324651 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Muc4 |
mucin 4, cell surface associated |
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ISO |
mRNA,protein:increased expression:gallbladder |
RGD |
PMID:18397823 |
RGD:2324921 |
NCBI chr11:68,008,245...68,053,242
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Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
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ISO |
protein:decreased expression:gallbladder |
RGD |
PMID:15260848 |
RGD:2324651 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc6 |
mucin 6, oligomeric mucus/gel-forming |
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ISO |
protein:decreased expression:gallbladder |
RGD |
PMID:15260848 |
RGD:2324651 |
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:SNP: :rs1495741(human) |
RGD |
PMID:20972438 |
RGD:11056814 |
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 |
disease_progression |
ISO |
protein:increased expression:epithelial cell |
RGD |
PMID:15100237 |
RGD:2326070 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Nos2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:gallbladder associated with Gallbladder Diseases; protein:decreased expression:gllbladder |
RGD |
PMID:14991947 PMID:14704000 |
RGD:2325250, RGD:2325251 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
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ISO |
DNA:deletion:exon:exons 5 and 6, estrogen dependent |
RGD |
PMID:20679224 |
RGD:6482195 |
NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
susceptibility |
ISO |
DNA:polymorphism: :p.S326C (human) DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human) |
RGD |
PMID:19266243 PMID:20564624 |
RGD:2317128, RGD:8657150 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
susceptibility |
ISO |
DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human) |
RGD |
PMID:19606394 PMID:19455278 PMID:17575102 |
RGD:2317181, RGD:2317182, RGD:2317188 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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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 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Tgfb1 |
transforming growth factor, beta 1 |
susceptibility |
ISO |
DNA:polymorphism: : -509C>T (human) |
RGD |
PMID:18571008 |
RGD:2317641 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbs1 |
thrombospondin 1 |
disease_progression |
ISO |
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RGD |
PMID:10427124 |
RGD:2325029 |
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 PMID:24997986 |
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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 |
Uchl1 |
ubiquitin C-terminal hydrolase L1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16965602 |
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NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632509 |
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NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Cck |
cholecystokinin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1631261 |
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NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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G |
Gnas |
GNAS complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21823526 |
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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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Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7461467 |
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NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Smad4 |
SMAD family member 4 |
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ISO |
mRNA,protein:decreased expression:intrahepatic bile duct |
RGD |
PMID:16917866 |
RGD:18936999 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
susceptibility |
ISO |
associated with Anemia, Sickle Cell;DNA:repeat:promoter:(TA) associated with Beta-Thalassemia;DNA:repeat:promoter:(TA) |
RGD |
PMID:15388579 PMID:14555305 |
RGD:10769331, RGD:10769338 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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