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G |
F3 |
coagulation factor III, tissue factor |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:21037076 |
RGD:11341737 |
NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916
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G |
Fech |
ferrochelatase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10464147 |
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NCBI chrNW_004936497:6,755,626...6,788,568
Ensembl chrNW_004936497:6,755,553...6,790,944
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G |
Magee1 |
MAGE family member E1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30515189 |
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NCBI chrNW_004936683:2,008,949...2,013,104
Ensembl chrNW_004936683:2,009,167...2,012,570
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G |
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 chrNW_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia |
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: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: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 More...
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NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315
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G |
LOC101965998 |
notch receptor 2 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 |
ClinVar |
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:31749841 More...
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NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321
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G |
Ankef1 |
ankyrin repeat and EF-hand domain containing 1 |
|
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 chrNW_004936485:9,446,425...9,462,724
Ensembl chrNW_004936485:9,446,501...9,462,713
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G |
Hao1 |
hydroxyacid oxidase 1 |
|
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 chrNW_004936485:11,435,151...11,486,042
Ensembl chrNW_004936485:11,435,151...11,486,042
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
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 chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315
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G |
Lamp5 |
lysosomal associated membrane protein family member 5 |
|
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 chrNW_004936485:9,952,975...9,964,358
Ensembl chrNW_004936485:9,952,159...9,957,016
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G |
Mkks |
MKKS centrosomal shuttling protein |
|
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 chrNW_004936485:9,089,118...9,114,396
Ensembl chrNW_004936485:9,088,963...9,115,175
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G |
Pak5 |
p21 (RAC1) activated kinase 5 |
|
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 chrNW_004936485:9,825,425...9,932,162
Ensembl chrNW_004936485:9,633,230...9,932,174
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G |
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 chrNW_004936485:10,548,966...11,254,139
Ensembl chrNW_004936485:10,548,966...11,253,761
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G |
Plcb4 |
phospholipase C beta 4 |
|
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 chrNW_004936485:9,991,731...10,353,231
Ensembl chrNW_004936485:9,991,299...10,353,123
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G |
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 chrNW_004936485:8,907,153...9,088,595
Ensembl chrNW_004936485:8,903,951...9,088,613
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G |
Snap25 |
synaptosome associated protein 25 |
|
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 chrNW_004936485:9,198,744...9,279,854
Ensembl chrNW_004936485:9,195,110...9,279,920
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G |
Tmx4 |
thioredoxin related transmembrane protein 4 |
|
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 chrNW_004936485:11,375,768...11,415,951
Ensembl chrNW_004936485:11,375,706...11,412,741
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G |
LOC101965998 |
notch receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Alagille syndrome 2 |
OMIM ClinVar |
PMID:16773578 PMID:21378985 PMID:23389697 PMID:24728327 PMID:25016221 PMID:25741868 PMID:26627824 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:29698804 PMID:30143558 PMID:31749841 PMID:32164334 PMID:32368696 More...
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NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
ClinVar |
PMID:20190753 PMID:25741868 |
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NCBI chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506
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G |
Vps33b |
VPS33B late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392
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G |
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 chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
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G |
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 chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506
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G |
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 chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
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 chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506
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G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: Summerskill syndrome |
OMIM ClinVar |
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 More...
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NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
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G |
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:28454995 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 chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24131658 |
RGD:151361287 |
NCBI chrNW_004936641:1,513,110...1,538,955
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:25704541 |
RGD:11521169 |
NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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G |
Apob |
apolipoprotein B |
susceptibility |
ISO |
DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) |
RGD |
PMID:18296645 |
RGD:2317550 |
NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144
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G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:SNP:intron:rs440446 (human) |
RGD |
PMID:18296645 |
RGD:2317550 |
NCBI chrNW_004936706:1,512,438...1,516,805
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G |
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 chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211
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G |
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 chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736
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G |
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 chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
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G |
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 chrNW_004936501:8,246,927...8,273,258
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G |
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 chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
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G |
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 chrNW_004936889:231,373...250,985
Ensembl chrNW_004936889:231,373...250,987 Ensembl chrNW_004936889:231,373...250,987
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G |
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 chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
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G |
Tjp1 |
tight junction protein 1 |
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ISO |
protein:decreased expression:bile duct |
RGD |
PMID:19184677 |
RGD:2325030 |
NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24890221 |
RGD:151361210 |
NCBI chrNW_004936641:1,513,110...1,538,955
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G |
Asph |
aspartate beta-hydroxylase |
|
ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:16673309 |
RGD:2325824 |
NCBI chrNW_004936496:11,604,992...11,815,680
Ensembl chrNW_004936496:11,604,680...11,816,852
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17341899 |
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NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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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 chrNW_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456
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|
G |
Il6 |
interleukin 6 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:17617204 |
RGD:2317166 |
NCBI chrNW_004936549:7,015,595...7,016,246
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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 chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179
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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 chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543
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|
G |
Mki67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
|
RGD |
PMID:9869516 |
RGD:2317706 |
NCBI chrNW_004936486:15,561,327...15,587,109
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|
G |
Muc16 |
mucin 16, cell surface associated |
|
ISO |
protein:increased expression:serum,bile |
RGD |
PMID:1657243 |
RGD:2325134 |
NCBI chrNW_004936588:5,506,683...5,586,450
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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 chrNW_004936784:515,608...539,915
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|
G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
|
RGD |
PMID:8501910 PMID:9851639 |
RGD:2326076 RGD:2326077 |
NCBI chrNW_004936612:1,262,557...1,556,281
Ensembl chrNW_004936612:1,262,544...1,556,016
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G |
Runx3 |
RUNX family transcription factor 3 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:15471559 |
RGD:2324957 |
NCBI chrNW_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910
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|
|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21356120 |
RGD:5686894 |
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
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|
G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
mRNA, protein:increased expression:liver, plasma: |
RGD |
PMID:21172039 |
RGD:7184431 |
NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
|
RGD |
PMID:14743499 |
RGD:1625622 |
NCBI chrNW_004936604:4,504,519...4,511,897
Ensembl chrNW_004936604:4,504,503...4,511,910
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|
G |
Ggt1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
|
RGD |
PMID:29056230 |
RGD:14701039 |
NCBI chrNW_004936619:762,278...791,610
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G |
Gli2 |
GLI family zinc finger 2 |
disease_progression |
ISO |
|
RGD |
PMID:25746691 |
RGD:12802349 |
NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
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G |
Hamp |
hepcidin antimicrobial peptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16627878 |
|
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
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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 chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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|
G |
Il18 |
interleukin 18 |
susceptibility |
ISO |
protein:increased expression:serum: DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) |
RGD |
PMID:10726686 PMID:30059753 |
RGD:14695528 RGD:14695529 |
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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|
G |
LOC101964975 |
interleukin-8 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:24493287 |
RGD:26884361 |
NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:25487473 |
RGD:12832754 |
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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G |
Shh |
sonic hedgehog signaling molecule |
disease_progression |
ISO |
|
RGD |
PMID:25746691 |
RGD:12802349 |
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
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G |
Sox17 |
SRY-box transcription factor 17 |
|
ISO |
|
MouseDO |
|
|
NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
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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 chrNW_004936471:4,238,883...4,251,291
Ensembl chrNW_004936471:4,238,845...4,251,350
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G |
Spint2 |
serine peptidase inhibitor, Kunitz type 2 |
|
ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chrNW_004936801:1,041,946...1,069,617
Ensembl chrNW_004936801:1,041,708...1,069,776
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
|
RGD |
PMID:15845635 |
RGD:1581370 |
NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079
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|
G |
Tgfb1 |
transforming growth factor beta 1 |
treatment |
ISO |
|
RGD |
PMID:30686515 |
RGD:14985228 |
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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|
G |
Angpt2 |
angiopoietin 2 |
|
ISO |
protein:increased expression:bile duct (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
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G |
Ift56 |
intraflagellar transport 56 |
|
ISO |
ClinVar Annotator: match by term: Caroli disease |
ClinVar |
PMID:25741868 PMID:31595528 PMID:32617964 |
|
NCBI chrNW_004936592:3,402,950...3,468,174
Ensembl chrNW_004936592:3,403,690...3,466,525
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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 chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
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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 chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
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|
|
G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
|
MouseDO |
|
|
NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
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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 chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393
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G |
Adrb2 |
adrenoceptor beta 2 |
|
ISO |
protein:decreased expression:liver |
RGD |
PMID:16292515 |
RGD:2325640 |
NCBI chrNW_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210
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|
G |
Alox5 |
arachidonate 5-lipoxygenase |
|
ISO |
protein:increased expression:bile duct |
RGD |
PMID:18507031 |
RGD:2317521 |
NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931
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G |
Anxa2 |
annexin A2 |
disease_progression |
ISO |
|
RGD |
PMID:20493868 |
RGD:2325728 |
NCBI chrNW_004936471:21,274,112...21,329,286
Ensembl chrNW_004936471:21,274,027...21,329,503
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|
G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
DNA:hypermethylation:promoter DNA:loss of heterozygosity |
RGD |
PMID:10212000 PMID:15467712 |
RGD:2317198 RGD:2317205 |
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:19486127 |
RGD:2325756 |
NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
|
NCBI chrNW_004936474:11,148,857...11,197,312
|
|
G |
Asph |
aspartate beta-hydroxylase |
|
ISO |
|
RGD |
PMID:21898484 |
RGD:6902945 |
NCBI chrNW_004936496:11,604,992...11,815,680
Ensembl chrNW_004936496:11,604,680...11,816,852
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G |
Atg101 |
autophagy related 101 |
disease_progression |
ISO |
|
RGD |
PMID:35592424 |
RGD:153350091 |
NCBI chrNW_004936512:9,518,128...9,525,986
Ensembl chrNW_004936512:9,518,074...9,526,961
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 PMID:25231345 |
|
NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
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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 chrNW_004936493:903,295...1,115,434
Ensembl chrNW_004936493:899,961...1,115,493
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|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:12692057 |
RGD:11073239 |
NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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G |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
|
NCBI chrNW_004936569:715,129...716,187
Ensembl chrNW_004936569:715,129...716,181
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G |
Egf |
epidermal growth factor |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936563:1,058,803...1,181,393
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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G |
Epo |
erythropoietin |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:23052842 |
RGD:10400912 |
NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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G |
Epor |
erythropoietin receptor |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:23052842 |
RGD:10400912 |
NCBI chrNW_004936659:1,468,391...1,473,880
Ensembl chrNW_004936659:1,468,634...1,473,880
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 |
|
NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
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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 |
RGD:126779604 |
NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939
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G |
Faslg |
Fas ligand |
|
ISO |
|
RGD |
PMID:11029528 |
RGD:2317746 |
NCBI chrNW_004936481:14,789,547...14,795,780
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
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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 chrNW_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456
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G |
Gstp1 |
glutathione S-transferase pi 1 |
treatment |
ISO |
human cell line in a mouse model DNA:hypermethylation:promoter |
RGD |
PMID:12805482 PMID:15467712 |
RGD:14401711 RGD:2317198 |
NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
protein:increased expression:liver: |
RGD |
PMID:23370327 |
RGD:9681560 |
NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053
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G |
Hgf |
hepatocyte growth factor |
|
ISO |
protein:increased expression:serum mRNA, protein:increased expression: : |
RGD |
PMID:10827151 PMID:16974053 |
RGD:2317909 RGD:2317925 |
NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779
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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 |
|
NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
|
NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
|
NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341
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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 chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
|
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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 chrNW_004936557:5,765,093...5,769,853
Ensembl chrNW_004936557:5,765,093...5,769,853
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G |
Il1b |
interleukin 1 beta |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
|
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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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 chrNW_004936713:679,680...716,801
Ensembl chrNW_004936713:701,155...716,650
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G |
Il4r |
interleukin 4 receptor |
|
ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:18798553 |
RGD:2317263 |
NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818
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G |
Il6 |
interleukin 6 |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
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:17623760 PMID:18550579 More...
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NCBI chrNW_004936549:7,015,595...7,016,246
|
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G |
Ins |
insulin |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357
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G |
Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34418280 |
|
NCBI chrNW_004936605:4,370,222...4,828,972
Ensembl chrNW_004936605:4,372,671...4,825,423
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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 chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
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G |
Kmt2c |
lysine methyltransferase 2C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8968066 PMID:22561520 |
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NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Krt7 |
keratin 7 |
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ISO |
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RGD |
PMID:18393293 |
RGD:2317308 |
NCBI chrNW_004936512:9,641,587...9,656,573
Ensembl chrNW_004936512:9,641,587...9,656,524
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G |
LOC101957714 |
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial |
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ISO |
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) |
RGD |
PMID:23375797 |
RGD:151361187 |
NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
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G |
LOC101963142 |
mucin-3B |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chrNW_004936543:886,333...904,504
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G |
LOC101964975 |
interleukin-8 |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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G |
LOC101971027 |
neuroendocrine secretory protein 55 |
disease_progression |
ISO |
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:17356712 PMID:22561520 |
RGD:1601377 |
NCBI chrNW_004936530:1,353,432...1,407,437
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Mdm2 |
MDM2 proto-oncogene |
disease_progression |
ISO |
protein:increased expression:intrahepatic bile duct (human) |
RGD |
PMID:15619210 |
RGD:2317417 |
NCBI chrNW_004936545:6,709,903...6,732,334
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Met |
MET proto-oncogene, receptor tyrosine kinase |
disease_progression |
ISO |
protein:increased phosphorylation:liver, carcinoma (human) protein:increased expression:liver, biliary epithelium (rat) |
RGD |
PMID:14656942 PMID:16818635 |
RGD:2317578 RGD:2317601 |
NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179
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Mfsd4a |
major facilitator superfamily domain containing 4A |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chrNW_004936557:6,823,771...6,852,534
Ensembl chrNW_004936557:6,823,597...6,842,741
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Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:17550320 |
RGD:2317632 |
NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543
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Mki67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
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RGD |
PMID:12903495 |
RGD:2317705 |
NCBI chrNW_004936486:15,561,327...15,587,109
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G |
Mmp2 |
matrix metallopeptidase 2 |
disease_progression |
ISO |
protein:increased expression:bile duct |
RGD |
PMID:15213623 PMID:19629755 |
RGD:2324667 RGD:2325769 |
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:bile duct mRNA:increased expression:bile duct |
RGD |
PMID:15213623 PMID:16463672 |
RGD:2324667 RGD:2325856 |
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:17201138 |
RGD:2317119 |
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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Muc1 |
mucin 1, cell surface associated |
disease_progression |
ISO |
mRNA:increased expression:bile duct protein:increased expression:bile duct: protein:increased expression:serum protein:increased secretion:bile |
RGD |
PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217 |
RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667 |
NCBI chrNW_004936580:4,691,870...4,694,092
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Muc16 |
mucin 16, cell surface associated |
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ISO |
associated with Opisthorchiasis;protein:increased expression:serum |
RGD |
PMID:1653472 |
RGD:2325142 |
NCBI chrNW_004936588:5,506,683...5,586,450
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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 chrNW_004936816:60,499...91,628
Ensembl chrNW_004936816:60,499...91,628
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Muc4 |
mucin 4, cell surface associated |
disease_progression |
ISO |
protein:increased expression:bile duct |
RGD |
PMID:14752841 PMID:19082442 |
RGD:2303602 RGD:2324944 |
NCBI chrNW_004936784:515,608...539,915
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Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
disease_progression |
ISO |
protein:increased expression:serum mRNA:increased expression:bile duct |
RGD |
PMID:11680592 PMID:14508831 |
RGD:2324948 RGD:2324990 |
NCBI chrNW_004936816:129,926...159,396
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Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chrNW_004936816:174,943...209,241
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Muc6 |
mucin 6, oligomeric mucus/gel-forming |
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ISO |
protein:increased expression: : |
RGD |
PMID:10209489 |
RGD:2325167 |
NCBI chrNW_004936816:882...14,717
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Ncam1 |
neural cell adhesion molecule 1 |
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ISO |
associated with hepatitis |
RGD |
PMID:12031086 |
RGD:2326079 |
NCBI chrNW_004936612:1,262,557...1,556,281
Ensembl chrNW_004936612:1,262,544...1,556,016
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Nos2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16094703 PMID:16818635 |
RGD:2325280 |
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Notch1 |
notch receptor 1 |
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ISO |
protein:increased expression:cholangiocyte |
RGD |
PMID:15887117 |
RGD:2325330 |
NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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G |
Nr1h4 |
nuclear receptor subfamily 1 group H member 4 |
disease_progression |
ISO |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:24255171 |
RGD:15090822 |
NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
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Ogg1 |
8-oxoguanine DNA glycosylase |
disease_progression |
ISO |
DNA:loss of heterozygosity (human) |
RGD |
PMID:11260864 PMID:11866974 |
RGD:2317134 RGD:2317136 |
NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
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G |
Osbp2 |
oxysterol binding protein 2 |
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ISO |
mRNA:increased expression:blood |
RGD |
PMID:21763455 |
RGD:41404644 |
NCBI chrNW_004936755:31,113...120,747
Ensembl chrNW_004936755:31,009...121,887
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G |
Osbpl7 |
oxysterol binding protein like 7 |
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ISO |
mRNA:increased expression:blood |
RGD |
PMID:21763455 |
RGD:41404644 |
NCBI chrNW_004936490:13,491,704...13,506,742
Ensembl chrNW_004936490:13,491,544...13,506,768
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G |
Panx2 |
pannexin 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chrNW_004936629:618,758...626,446
Ensembl chrNW_004936629:618,042...626,452
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G |
Pawr |
pro-apoptotic WT1 regulator |
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ISO |
mRNA,protein:decreased expression:cholangiocyte: |
RGD |
PMID:20724592 |
RGD:9835357 |
NCBI chrNW_004936698:650,225...746,593
Ensembl chrNW_004936698:650,953...747,057
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G |
Pbrm1 |
polybromo 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chrNW_004936473:3,382,618...3,476,049
Ensembl chrNW_004936473:3,382,260...3,476,052
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G |
Peg3 |
paternally expressed 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chrNW_004936882:577,424...607,691
Ensembl chrNW_004936882:577,395...591,042
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G |
Pes1 |
pescadillo ribosomal biogenesis factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34845814 |
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NCBI chrNW_004936904:125,922...140,559
Ensembl chrNW_004936904:126,003...140,235
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G |
Pir |
pirin |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chrNW_004936470:4,794,803...4,902,211
Ensembl chrNW_004936470:4,793,823...4,902,471
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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 chrNW_004936478:19,669,727...19,673,355
Ensembl chrNW_004936478:19,669,506...19,673,398
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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 chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540
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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 chrNW_004936496:6,005,410...6,284,332
Ensembl chrNW_004936496:6,008,277...6,284,346
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G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chrNW_004936659:2,750,015...2,765,914
Ensembl chrNW_004936659:2,750,537...2,765,753
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G |
Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chrNW_004936608:1,353,905...1,464,636
Ensembl chrNW_004936608:1,353,897...1,464,636
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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 chrNW_004936533:5,032,718...5,053,452
Ensembl chrNW_004936533:5,032,581...5,053,529
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G |
Prss56 |
serine protease 56 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chrNW_004936525:4,568,854...4,574,332
Ensembl chrNW_004936525:4,568,802...4,574,396
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Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:23376645 PMID:27022031 |
RGD:12802341 |
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
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NCBI chrNW_004936481:3,821,564...3,828,086
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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 chrNW_004936548:1,353,237...1,444,176
Ensembl chrNW_004936548:1,352,902...1,444,202
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Reg1a |
regenerating family member 1 alpha |
susceptibility |
ISO |
mRNA, protein:increased expression:liver (human) |
RGD |
PMID:11343228 |
RGD:10044031 |
NCBI chrNW_004936556:4,873,331...4,875,608
Ensembl chrNW_004936556:4,873,331...4,875,608
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G |
Rnf39 |
ring finger protein 39 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chrNW_004936723:967,376...972,496
Ensembl chrNW_004936723:967,263...975,952
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Rnf43 |
ring finger protein 43 |
exacerbates |
ISO |
CTD Direct Evidence: marker/mechanism associated with opisthorchiasis;DNA:SNPs:multiple: (human) |
CTD RGD |
PMID:22561520 |
RGD:151361227 |
NCBI chrNW_004936490:4,660,904...4,742,669
Ensembl chrNW_004936490:4,683,725...4,741,828
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G |
Robo2 |
roundabout guidance receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chrNW_004936505:5,544,011...6,747,417
Ensembl chrNW_004936505:5,548,164...6,094,225
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G |
Runx3 |
RUNX family transcription factor 3 |
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ISO |
protein:decreased expression:bile duct |
RGD |
PMID:19827872 |
RGD:2324955 |
NCBI chrNW_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910
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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 chrNW_004936598:3,391,587...3,713,629
Ensembl chrNW_004936598:3,391,575...3,713,635
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G |
Slc5a5 |
solute carrier family 5 member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17408651 |
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NCBI chrNW_004936596:3,176,009...3,188,637
Ensembl chrNW_004936596:3,177,422...3,188,637
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression treatment |
ISO |
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RGD |
PMID:24131658 PMID:25475870 PMID:28347255 |
RGD:151361214 RGD:151361287 RGD:151361294 |
NCBI chrNW_004936641:1,513,110...1,538,955
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Smad4 |
SMAD family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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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 chrNW_004936594:2,932,297...2,935,358
Ensembl chrNW_004936594:2,933,747...2,934,451
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G |
Sox17 |
SRY-box transcription factor 17 |
severity |
ISO |
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RGD |
PMID:20816680 |
RGD:4889598 |
NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
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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 chrNW_004936566:1,630,698...1,632,607
Ensembl chrNW_004936566:1,631,822...1,632,613
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G |
Tgfb1 |
transforming growth factor beta 1 |
disease_progression |
ISO |
protein:increased expression:pancreas |
RGD |
PMID:12632524 PMID:16083599 |
RGD:1299231 RGD:2325020 |
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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G |
Tgfbr2 |
transforming growth factor beta receptor 2 |
|
ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:12632524 |
RGD:1299231 |
NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430
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G |
Thbs1 |
thrombospondin 1 |
disease_progression |
ISO |
DNA:hypermethylation (human) |
RGD |
PMID:11927969 PMID:12213730 PMID:16465407 |
RGD:2325024 RGD:2325026 RGD:2325027 |
NCBI chrNW_004936471:3,064,466...3,081,125
Ensembl chrNW_004936471:3,064,422...3,081,949
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Tnc |
tenascin C |
severity |
ISO |
|
RGD |
PMID:20816680 |
RGD:4889598 |
NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126
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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 chrNW_004936560:5,124,955...5,138,988
Ensembl chrNW_004936560:5,128,843...5,138,345
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Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 PMID:22561520 |
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Ttr |
transthyretin |
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ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:18275060 |
RGD:151660506 |
NCBI chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566
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Vegfa |
vascular endothelial growth factor A |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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G |
Wdhd1 |
WD repeat and HMG-box DNA binding protein 1 |
ameliorates |
ISO |
|
RGD |
PMID:30314946 |
RGD:156420141 |
NCBI chrNW_004936697:129,821...184,238
Ensembl chrNW_004936697:130,105...183,576
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G |
Wnt9a |
Wnt family member 9A |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chrNW_004936864:216,381...245,885
Ensembl chrNW_004936864:239,651...244,312
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Cd40lg |
CD40 ligand |
treatment |
ISO |
|
RGD |
PMID:23820408 |
RGD:11352285 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
|
RGD |
PMID:22576464 |
RGD:10401932 |
NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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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 chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8698195 |
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NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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G |
Ca2 |
carbonic anhydrase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15816485 |
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NCBI chrNW_004936544:362,591...379,151
Ensembl chrNW_004936544:362,591...380,223
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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G |
Itgb6 |
integrin subunit beta 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chrNW_004936469:18,581,855...18,650,109
Ensembl chrNW_004936469:18,581,840...18,650,123
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G |
Krt19 |
keratin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chrNW_004936490:16,440,723...16,444,679
Ensembl chrNW_004936490:16,440,693...16,444,791
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G |
LOC101964013 |
mucin-17 |
|
ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:19032457 |
RGD:2325170 |
NCBI chrNW_004936543:976,794...987,062
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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 chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
|
RGD |
PMID:29158418 |
RGD:14700923 |
NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
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G |
Tgfb2 |
transforming growth factor beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
|
NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25055964 |
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NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
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G |
Tlr2 |
toll like receptor 2 |
disease_progression |
ISO |
|
RGD |
PMID:30340822 |
RGD:15090860 |
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
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G |
Vdr |
vitamin D receptor |
|
ISO |
mRNA,protein:decreased expression:liver |
RGD |
PMID:28146070 |
RGD:14401745 |
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
OMIM:600803 |
MouseDO |
|
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NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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G |
Pot1 |
protection of telomeres 1 |
|
ISO |
mRNA:decreased expression:gall bladder |
RGD |
PMID:28643740 |
RGD:151356941 |
NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
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G |
Aqp1 |
aquaporin 1 (Colton blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
|
NCBI chrNW_004936478:7,146,997...7,160,369
Ensembl chrNW_004936478:7,147,027...7,160,401
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
|
NCBI chrNW_004936589:1,565,933...1,719,208
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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:15830394 PMID:18988797 |
RGD:14700991 |
NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
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G |
Sct |
secretin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
|
NCBI chrNW_004936888:459,168...459,919
Ensembl chrNW_004936888:459,247...459,911
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G |
Slc4a2 |
solute carrier family 4 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988797 |
|
NCBI chrNW_004936527:6,485,566...6,499,901
Ensembl chrNW_004936527:6,485,511...6,499,924
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G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12902918 |
|
NCBI chrNW_004936621:1,140,651...1,163,608
Ensembl chrNW_004936621:1,140,658...1,163,589
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
treatment susceptibility |
ISO |
mRNA:altered expression:liver (rat) CTD Direct Evidence: marker/mechanism protein:decreased expression:liver |
RGD CTD |
PMID:11179459 PMID:12702498 PMID:22461449 PMID:24713091 PMID:27090119 PMID:27593105 PMID:29087027 More...
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RGD:14402412 RGD:14402414 RGD:15090804 RGD:1598571 |
NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
DNA:mutations: : |
RGD MouseDO |
PMID:11680581 PMID:26324191 |
RGD:11565494 RGD:1598589 |
NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment disease_progression |
ISO |
mRNA,protein:decreased expression:intestine: CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) |
RGD CTD |
PMID:10869290 PMID:12702498 PMID:15057744 PMID:16037978 PMID:17009103 PMID:17681005 PMID:22521610 PMID:27090119 More...
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RGD:11081007 RGD:11081011 RGD:15090804 RGD:1598571 RGD:1598614 |
NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393
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G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
|
ISO |
protein:increased expression:liver CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18096675 PMID:22461449 PMID:23486593 |
RGD:11535162 RGD:2301060 |
NCBI chrNW_004936490:11,039,968...11,086,670
Ensembl chrNW_004936490:11,040,445...11,086,566
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G |
Abcc4 |
ATP binding cassette subfamily C member 4 (PEL blood group) |
treatment |
ISO |
protein:altered expression:kidney, liver |
RGD |
PMID:15030973 PMID:30223280 |
RGD:15045612 RGD:2301085 |
NCBI chrNW_004936472:14,396,986...14,624,597
Ensembl chrNW_004936472:14,397,222...14,624,648
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
|
RGD |
PMID:16764892 |
RGD:1598662 |
NCBI chrNW_004936508:8,093,804...8,117,467
Ensembl chrNW_004936508:8,093,804...8,116,877
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G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
|
ISO |
|
RGD |
PMID:16764892 |
RGD:1598662 |
NCBI chrNW_004936508:8,074,697...8,093,424
Ensembl chrNW_004936508:8,074,674...8,093,550
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
|
ISO |
mRNA, protein:increased expression, increased activity:liver, plasma (rat) |
RGD |
PMID:19652891 |
RGD:2315953 |
NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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G |
Aldh1b1 |
aldehyde dehydrogenase 1 family member B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936524:6,083,482...6,087,802
Ensembl chrNW_004936524:6,083,482...6,087,801
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G |
Aldh1l1 |
aldehyde dehydrogenase 1 family member L1 |
treatment |
ISO |
|
RGD |
PMID:30223280 |
RGD:15045612 |
NCBI chrNW_004936898:456,299...484,681
Ensembl chrNW_004936898:456,521...484,282
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G |
Aldh8a1 |
aldehyde dehydrogenase 8 family member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936560:2,562,394...2,580,261
Ensembl chrNW_004936560:2,562,748...2,580,201
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G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
|
RGD |
PMID:17201892 |
RGD:10054045 |
NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603
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G |
Apoe |
apolipoprotein E |
|
ISO |
associated with Pancreatic Neoplasms;protein:increased expression:plasma |
RGD |
PMID:19055369 |
RGD:2317548 |
NCBI chrNW_004936706:1,512,438...1,516,805
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G |
Bcat1 |
branched chain amino acid transaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936548:2,385,756...2,454,423
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G |
Bex4 |
brain expressed X-linked 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936547:8,000,064...8,002,029
Ensembl chrNW_004936547:8,000,230...8,001,999
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G |
Blvra |
biliverdin reductase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chrNW_004936478:18,811,452...18,850,594
Ensembl chrNW_004936478:18,833,172...18,852,839
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G |
Bmal1 |
basic helix-loop-helix ARNT like 1 |
|
ISO |
mRNA:increased expression:cholangiocyte |
RGD |
PMID:21757639 |
RGD:10043349 |
NCBI chrNW_004936528:5,167,611...5,239,128
Ensembl chrNW_004936528:5,164,481...5,239,128
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G |
Btg3 |
BTG anti-proliferation factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936505:10,032,333...10,046,008
Ensembl chrNW_004936505:10,032,237...10,046,047
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G |
Cadps2 |
calcium dependent secretion activator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936605:2,505,064...3,012,322
Ensembl chrNW_004936605:2,505,231...3,011,468
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G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21339256 PMID:27989131 |
RGD:5130873 |
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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G |
Cd14 |
CD14 molecule |
|
ISO |
|
RGD |
PMID:22511970 |
RGD:7183752 |
NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
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G |
Cd44 |
CD44 molecule (IN blood group) |
|
ISO |
protein:decreased expression:jejunum, ileum |
RGD |
PMID:16804311 |
RGD:2289372 |
NCBI chrNW_004936533:2,949,026...3,033,166
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
mRNA,Protein:increased expression |
RGD |
PMID:15605366 |
RGD:1599598 |
NCBI chrNW_004936589:1,565,933...1,719,208
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G |
Clock |
clock circadian regulator |
|
ISO |
mRNA:increased expression:cholangiocyte |
RGD |
PMID:21757639 |
RGD:10043349 |
NCBI chrNW_004936482:17,789,834...17,900,371
Ensembl chrNW_004936482:17,794,134...17,845,303
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G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26884397 |
|
NCBI chrNW_004936510:3,779,930...3,806,615
Ensembl chrNW_004936510:3,781,210...3,802,693
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G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26884397 |
|
NCBI chrNW_004936474:9,019,044...9,020,110
Ensembl chrNW_004936474:9,019,067...9,020,110
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G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
ISO |
mRNA:increased expression:liver (rat) mRNA:increased expression:liver (mouse) |
RGD |
PMID:21274875 PMID:22094456 PMID:22824087 |
RGD:8552675 RGD:8552699 RGD:8552776 |
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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G |
Cp |
ceruloplasmin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:29523470 |
RGD:14401716 |
NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858
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G |
CUNH4orf19 |
chromosome unknown C4orf19 homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936482:5,592,667...5,614,527
Ensembl chrNW_004936482:5,520,275...5,614,537
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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 chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
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G |
Dgat2 |
diacylglycerol O-acyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936498:4,514,212...4,544,523
Ensembl chrNW_004936498:4,514,184...4,544,527
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G |
Dnajb9 |
DnaJ heat shock protein family (Hsp40) member B9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936653:1,554,534...1,558,832
Ensembl chrNW_004936653:1,554,553...1,559,170
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G |
Dnajc12 |
DnaJ heat shock protein family (Hsp40) member C12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936521:10,360,775...10,403,201
Ensembl chrNW_004936521:10,360,952...10,402,877
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G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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G |
Eng |
endoglin |
|
ISO |
protein:increased expression:liver (rat) |
RGD |
PMID:21146604 |
RGD:7257529 |
NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488
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G |
Erlec1 |
endoplasmic reticulum lectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936491:351,813...377,978
Ensembl chrNW_004936491:351,420...378,441
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G |
Fga |
fibrinogen alpha chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20974703 |
|
NCBI chrNW_004936576:1,322,406...1,329,743
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
|
RGD |
PMID:18802767 |
RGD:2307352 |
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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G |
Ghr |
growth hormone receptor |
|
ISO |
mRNA,protein:decreased expression:liver, skeletal muscle: |
RGD |
PMID:15604202 |
RGD:11567216 |
NCBI chrNW_004936518:235,996...380,225
Ensembl chrNW_004936518:235,990...380,272
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G |
Gstp1 |
glutathione S-transferase pi 1 |
treatment |
ISO |
|
RGD |
PMID:23960717 |
RGD:10401941 |
NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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G |
Gtpbp2 |
GTP binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936476:16,389,659...16,397,603
Ensembl chrNW_004936476:16,389,639...16,397,603
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G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936473:2,823,183...2,856,077
Ensembl chrNW_004936473:2,823,123...2,856,077
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G |
Hao2 |
hydroxyacid oxidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936627:4,167,501...4,179,596
Ensembl chrNW_004936627:4,159,214...4,179,806
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G |
Hjv |
hemojuvelin BMP co-receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936867:742,539...747,035
Ensembl chrNW_004936867:742,501...746,930
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G |
Hoga1 |
4-hydroxy-2-oxoglutarate aldolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936636:2,101,184...2,125,377
Ensembl chrNW_004936636:2,102,036...2,125,532
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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 chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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G |
Id1 |
inhibitor of DNA binding 1, HLH protein |
|
ISO |
protein:increased expression:liver, nucleus (rat) |
RGD |
PMID:16628634 |
RGD:9686088 |
NCBI chrNW_004936485:18,610,721...18,611,889
Ensembl chrNW_004936485:18,610,665...18,612,059
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G |
Igf1 |
insulin like growth factor 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
RGD CTD |
PMID:12826230 PMID:18607346 |
RGD:10046052 |
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:19535096 |
RGD:2311076 |
NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
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G |
Il2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:29698570 |
RGD:14928214 |
NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
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NCBI chrNW_004936549:7,015,595...7,016,246
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Invs |
inversin |
|
ISO |
|
RGD |
PMID:10421642 |
RGD:155791685 |
NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620
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G |
Kank1 |
KN motif and ankyrin repeat domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chrNW_004936503:4,125,302...4,255,880
Ensembl chrNW_004936503:4,122,204...4,246,680
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G |
Kmt2b |
lysine methyltransferase 2B |
|
ISO |
mRNA:decreased expression:liver (mouse) |
RGD |
PMID:21330447 |
RGD:9588602 |
NCBI chrNW_004936570:583,616...605,846
Ensembl chrNW_004936570:583,616...605,603
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Lamp2 |
lysosomal associated membrane protein 2 |
|
ISO |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:28124283 |
RGD:13703118 |
NCBI chrNW_004936479:9,584,221...9,622,330
Ensembl chrNW_004936479:9,584,221...9,610,420
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G |
LOC101954746 |
peroxisomal bifunctional enzyme |
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ISO |
ClinVar Annotator: match by term: Cholestasis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936578:4,554,164...4,666,427
Ensembl chrNW_004936578:4,554,113...4,666,428
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G |
LOC101955077 |
cytochrome P450 7B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9802883 |
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NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
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G |
LOC101958459 |
plasma serine protease inhibitor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chrNW_004936846:141,334...150,381
Ensembl chrNW_004936846:146,116...150,438
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G |
LOC101963150 |
sterol 26-hydroxylase, mitochondrial |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15795599 |
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NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589
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G |
LOC101964975 |
interleukin-8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
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NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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G |
LOC101968921 |
angiotensin-converting enzyme |
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ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:30458228 |
RGD:25671450 |
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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G |
LOC101969421 |
cytochrome P450 1A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27565560 |
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NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484
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G |
LOC101970910 |
cytochrome P450 7A1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9797378 PMID:22461449 PMID:29655695 |
RGD:15090803 |
NCBI chrNW_004936496:4,599,138...4,605,653
Ensembl chrNW_004936496:4,599,138...4,605,653
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G |
LOC101976500 |
haptoglobin |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:12940443 |
RGD:1626374 |
NCBI chrNW_004936475:21,841,054...21,845,821
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G |
LOC101977223 |
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
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NCBI chrNW_004936695:2,263,868...2,265,373
Ensembl chrNW_004936695:2,263,868...2,265,373
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G |
Ly96 |
lymphocyte antigen 96 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chrNW_004936648:2,653,252...2,671,453
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G |
Maob |
monoamine oxidase B |
|
ISO |
protein:altered activity:hypothalamus (rat) |
RGD |
PMID:18802767 |
RGD:2307352 |
NCBI chrNW_004936502:9,907,181...10,014,756
Ensembl chrNW_004936502:9,907,180...10,014,773
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G |
Mapk13 |
mitogen-activated protein kinase 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
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NCBI chrNW_004936476:23,212,116...23,218,726
Ensembl chrNW_004936476:23,212,074...23,218,775
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G |
Mapk14 |
mitogen-activated protein kinase 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
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NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232
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G |
Mboat1 |
membrane bound O-acyltransferase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chrNW_004936552:5,470,645...5,528,232
Ensembl chrNW_004936552:5,471,784...5,526,206
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
ISO |
|
RGD |
PMID:21274875 |
RGD:8552699 |
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20977460 |
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NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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G |
Nfxl1 |
nuclear transcription factor, X-box binding like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
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NCBI chrNW_004936482:14,008,825...14,062,654
Ensembl chrNW_004936482:14,009,724...14,062,207
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G |
Niban1 |
niban apoptosis regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chrNW_004936481:5,178,595...5,319,681
Ensembl chrNW_004936481:5,178,617...5,319,698
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12612912 PMID:20626112 |
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NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
protein:decreased activity:liver (rat) |
RGD |
PMID:11352814 |
RGD:7775033 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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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 |
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NCBI chrNW_004936623:802,152...904,198
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G |
Npl |
N-acetylneuraminate pyruvate lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936481:6,942,128...6,977,042
Ensembl chrNW_004936481:6,942,282...6,972,775
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:22461449 PMID:28337145 |
RGD:13439750 |
NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311
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G |
Nr1d1 |
nuclear receptor subfamily 1 group D member 1 |
|
ISO |
|
RGD |
PMID:24497272 |
RGD:10448995 |
NCBI chrNW_004936490:15,206,194...15,213,858
Ensembl chrNW_004936490:15,206,191...15,213,867
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G |
Nr1h2 |
nuclear receptor subfamily 1 group H member 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17256725 |
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NCBI chrNW_004936889:223,137...229,968
Ensembl chrNW_004936889:223,101...229,990
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G |
Nr1h3 |
nuclear receptor subfamily 1 group H member 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17256725 |
|
NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669
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G |
Nr1h4 |
nuclear receptor subfamily 1 group H member 4 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) mutant FXR-/- mouse mRNA, protein:altered expression:liver (rat) mRNA:increased expression:ileum (rat) |
CTD RGD |
PMID:12949728 PMID:22461449 PMID:23178280 PMID:27090119 PMID:29235094 PMID:30061734 PMID:30077711 PMID:30223280 More...
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RGD:14701031 RGD:15042872 RGD:15045597 RGD:15045612 RGD:15090804 RGD:15092071 |
NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
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G |
Nr1i2 |
nuclear receptor subfamily 1 group I member 2 |
disease_progression |
ISO |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chrNW_004936536:6,691,590...6,726,421
Ensembl chrNW_004936536:6,691,590...6,726,704
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G |
Nr1i3 |
nuclear receptor subfamily 1 group I member 3 |
disease_progression |
ISO |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chrNW_004936903:527,838...533,930
Ensembl chrNW_004936903:527,871...533,790
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G |
Otc |
ornithine transcarbamylase |
|
ISO |
protein:decreased activity:liver (rat) |
RGD |
PMID:15916970 |
RGD:4143230 |
NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
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G |
Pan2 |
poly(A) specific ribonuclease subunit PAN2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
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NCBI chrNW_004936646:719,821...737,284
Ensembl chrNW_004936646:720,393...736,467
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
mRNA,protein:increased expression:cholangiocyte, bible duct: |
RGD |
PMID:10424289 |
RGD:10449495 |
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Pdyn |
prodynorphin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16919318 |
|
NCBI chrNW_004936485:16,559,371...16,571,461
Ensembl chrNW_004936485:16,559,217...16,571,678
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:3421781 |
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NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
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G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
treatment |
ISO |
mRNA:altered expression:liver (rat) |
RGD |
PMID:27090119 |
RGD:15090804 |
NCBI chrNW_004936518:1,817,051...1,843,376
Ensembl chrNW_004936518:1,804,969...1,843,380
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G |
Pygm |
glycogen phosphorylase, muscle associated |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:11804660 |
RGD:1599990 |
NCBI chrNW_004936599:4,551,164...4,564,109
Ensembl chrNW_004936599:4,551,032...4,564,154
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G |
Rdx |
radixin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17681005 |
|
NCBI chrNW_004936612:3,992,542...4,060,598
Ensembl chrNW_004936612:3,992,542...4,040,315
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G |
Reep5 |
receptor accessory protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936531:7,055,841...7,103,810
Ensembl chrNW_004936531:7,053,039...7,104,288
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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G |
Rflnb |
refilin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936538:7,226,570...7,233,203
Ensembl chrNW_004936538:7,226,570...7,233,185
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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G |
Slc10a1 |
solute carrier family 10 member 1 |
treatment |
ISO |
mRNA:altered expression:liver (rat) |
RGD |
PMID:27090119 PMID:29655695 |
RGD:15090803 RGD:15090804 |
NCBI chrNW_004936495:12,958,983...12,975,755
Ensembl chrNW_004936495:12,959,077...12,975,755
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G |
Slc10a7 |
solute carrier family 10 member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936535:2,792,576...3,038,504
Ensembl chrNW_004936535:2,792,293...3,038,512
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G |
Slc16a2 |
solute carrier family 16 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936683:803,186...910,143
Ensembl chrNW_004936683:803,134...910,284
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G |
Slc23a1 |
solute carrier family 23 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chrNW_004936531:8,457,779...8,471,244
Ensembl chrNW_004936531:8,457,957...8,471,258
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G |
Slc23a2 |
solute carrier family 23 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chrNW_004936485:13,885,067...13,976,623
Ensembl chrNW_004936485:13,885,091...13,976,550
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G |
Slc51a |
solute carrier family 51 member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 PMID:22461449 |
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NCBI chrNW_004936784:864,019...887,755
Ensembl chrNW_004936784:866,350...884,355
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G |
Slc51b |
SLC51 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 PMID:22461449 |
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NCBI chrNW_004936471:25,355,849...25,379,481
Ensembl chrNW_004936471:25,355,761...25,381,763
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G |
Slco1a2 |
solute carrier organic anion transporter family member 1A2 |
treatment |
ISO |
mRNA:altered expression:liver (rat) |
RGD |
PMID:27090119 |
RGD:15090804 |
NCBI chrNW_004936548:5,507,085...5,562,624
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G |
Slco1b3 |
solute carrier organic anion transporter family member 1B3 |
|
ISO |
mRNA, protein:increased expression:hepatocyte |
RGD |
PMID:17916651 |
RGD:2303109 |
NCBI chrNW_004936548:5,593,908...5,682,187
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G |
Snai1 |
snail family transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chrNW_004936514:4,456,498...4,462,436
Ensembl chrNW_004936514:4,456,484...4,462,987
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G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936542:6,192,407...6,352,835
Ensembl chrNW_004936542:6,192,407...6,352,424
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G |
Sort1 |
sortilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28453831 |
|
NCBI chrNW_004936704:832,651...901,658
Ensembl chrNW_004936704:837,057...901,392
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G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chrNW_004936471:4,238,883...4,251,291
Ensembl chrNW_004936471:4,238,845...4,251,350
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G |
Spint2 |
serine peptidase inhibitor, Kunitz type 2 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chrNW_004936801:1,041,946...1,069,617
Ensembl chrNW_004936801:1,041,708...1,069,776
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G |
Srp72 |
signal recognition particle 72 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936482:18,687,088...18,721,734
Ensembl chrNW_004936482:18,687,046...18,721,757
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G |
Sult2b1 |
sulfotransferase family 2B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27052460 |
|
NCBI chrNW_004936664:2,626,810...2,655,290
Ensembl chrNW_004936664:2,626,764...2,655,340
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
|
RGD |
PMID:8707259 |
RGD:2290364 |
NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
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G |
Tjp1 |
tight junction protein 1 |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:18197414 |
RGD:2325141 |
NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946
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G |
Tlr2 |
toll like receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
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G |
Tmed7 |
transmembrane p24 trafficking protein 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936742:779,964...791,738
Ensembl chrNW_004936742:745,336...791,883
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G |
Tmem117 |
transmembrane protein 117 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936512:2,327,765...2,765,488
Ensembl chrNW_004936512:2,327,730...2,765,697
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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G |
Uba5 |
ubiquitin like modifier activating enzyme 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chrNW_004936529:5,997,459...6,010,776
Ensembl chrNW_004936529:5,996,707...6,014,227
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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 |
|
NCBI chrNW_004936869:169,118...226,495
Ensembl chrNW_004936869:167,337...226,314
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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 chrNW_004936475:19,295,047...19,324,340
Ensembl chrNW_004936475:19,295,041...19,324,965
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
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NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
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Vil1 |
villin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chrNW_004936569:914,511...938,481
Ensembl chrNW_004936569:914,512...938,608
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Vps33b |
VPS33B late endosome and lysosome associated |
|
ISO |
ARC syndrome, OMIM:208085 |
RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392
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Wipi1 |
WD repeat domain, phosphoinositide interacting 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
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NCBI chrNW_004936541:7,782,836...7,812,142
Ensembl chrNW_004936541:7,783,322...7,812,054
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Xdh |
xanthine dehydrogenase |
|
ISO |
protein:alternative form:liver |
RGD |
PMID:10898233 |
RGD:13209135 |
NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238
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Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
|
RGD |
PMID:17852852 |
RGD:14694983 |
NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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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 chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725
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Ofd1 |
OFD1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis |
ClinVar |
PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532 |
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NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800
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Tmem67 |
transmembrane protein 67 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations: :multiple |
CTD RGD |
PMID:19058225 PMID:19574260 |
RGD:11535944 RGD:11535946 |
NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
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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 chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603
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G |
Rpgrip1l |
RPGRIP1 like |
|
ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31390572 More...
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NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618
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Tmem67 |
transmembrane protein 67 |
|
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 chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
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 chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603
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G |
Rpgrip1l |
RPGRIP1 like |
|
ISO |
ClinVar Annotator: match by term: COACH syndrome 3 |
OMIM ClinVar |
PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 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 chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618
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Apob |
apolipoprotein B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18076041 |
RGD:2325763 |
NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144
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G |
Fscn1 |
fascin actin-bundling protein 1 |
|
ISO |
mRNA, protein:increased expression: : |
RGD |
PMID:15136764 |
RGD:2317789 |
NCBI chrNW_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456
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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 chrNW_004936652:3,431,588...3,468,770
Ensembl chrNW_004936652:3,431,171...3,472,071
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Muc1 |
mucin 1, cell surface associated |
disease_progression |
ISO |
protein:increased expression:bile duct |
RGD |
PMID:8766528 |
RGD:2324856 |
NCBI chrNW_004936580:4,691,870...4,694,092
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Muc4 |
mucin 4, cell surface associated |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:8143972 |
RGD:2324890 |
NCBI chrNW_004936784:515,608...539,915
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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 chrNW_004936816:129,926...159,396
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G |
Tymp |
thymidine phosphorylase |
disease_progression |
ISO |
|
RGD |
PMID:10760693 |
RGD:2325158 |
NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076
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G |
Akr1d1 |
aldo-keto reductase family 1 member D1 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
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NCBI chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796
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G |
LOC101955077 |
cytochrome P450 7B1 |
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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 chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
ClinVar Annotator: match by term: 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 |
OMIM ClinVar |
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 PMID:28492532 PMID:34627351 More...
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NCBI chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553
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G |
Akr1d1 |
aldo-keto reductase family 1 member D1 |
|
ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 |
OMIM ClinVar |
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 PMID:19175828 PMID:20522910 PMID:21185810 PMID:23679950 PMID:25741868 PMID:28492532 PMID:30809085 PMID:31450232 PMID:37314652 PMID:38062451 More...
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NCBI chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796
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G |
LOC101955077 |
cytochrome P450 7B1 |
|
ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 |
OMIM ClinVar |
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 chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
OMIM ClinVar |
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25741868 PMID:28492532 PMID:30369941 More...
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NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929
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G |
Slc45a2 |
solute carrier family 45 member 2 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936518:7,094,949...7,139,961
Ensembl chrNW_004936518:7,095,038...7,137,277
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G |
Abcd3 |
ATP binding cassette subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 |
OMIM ClinVar |
PMID:25168382 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936537:4,659,685...4,745,992
Ensembl chrNW_004936537:4,659,484...4,746,616
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G |
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 chrNW_004936473:2,494,568...2,525,956
Ensembl chrNW_004936473:2,494,554...2,526,787
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
disease_progression |
ISO |
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RGD |
PMID:25536104 |
RGD:150340631 |
NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
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Pbrm1 |
polybromo 1 |
disease_progression |
ISO |
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RGD |
PMID:25536104 |
RGD:150340631 |
NCBI chrNW_004936473:3,382,618...3,476,049
Ensembl chrNW_004936473:3,382,260...3,476,052
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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 chrNW_004936750:107,689...122,679
Ensembl chrNW_004936750:107,689...122,676
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Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24890221 |
RGD:151361210 |
NCBI chrNW_004936641:1,513,110...1,538,955
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G |
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 chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
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G |
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 chrNW_004936889:231,373...250,985
Ensembl chrNW_004936889:231,373...250,987 Ensembl chrNW_004936889:231,373...250,987
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G |
Xpo1 |
exportin 1 |
disease_progression |
ISO |
protein:increased expression:extrahepatic bile duct (human) |
RGD |
PMID:27279267 |
RGD:151665800 |
NCBI chrNW_004936491:6,921,753...6,962,062
Ensembl chrNW_004936491:6,921,319...6,962,343
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
|
ISO |
mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) |
RGD |
PMID:28660384 |
RGD:21203516 |
NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741
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G |
Abcc4 |
ATP binding cassette subfamily C member 4 (PEL blood group) |
treatment |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chrNW_004936472:14,396,986...14,624,597
Ensembl chrNW_004936472:14,397,222...14,624,648
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:31932644 |
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NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377
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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 chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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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 chrNW_004936595:858,289...861,131
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:31932644 |
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NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930
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G |
Crh |
corticotropin releasing hormone |
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ISO |
protein:decreased expression:hypothalamus (rat) |
RGD |
PMID:8387536 |
RGD:5490980 |
NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122
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G |
Cygb |
cytoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783
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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 chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122
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G |
Gjb1 |
gap junction protein beta 1 |
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ISO |
mRNA,protein:decreased expression:liver: |
RGD |
PMID:7762611 |
RGD:7349397 |
NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898
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Gjb2 |
gap junction protein beta 2 |
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ISO |
|
RGD |
PMID:7762611 |
RGD:7349397 |
NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929
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G |
Hamp |
hepcidin antimicrobial peptide |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:19652645 |
RGD:11041639 |
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
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G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580
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G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
|
ISO |
mRNA, protein:decreased expression:liver, mitochondrion (rat) |
RGD |
PMID:12399220 |
RGD:2326121 |
NCBI chrNW_004936627:4,451,847...4,473,163
Ensembl chrNW_004936627:4,451,823...4,473,223
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G |
Hnf1a |
HNF1 homeobox A |
|
ISO |
mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) |
RGD |
PMID:15723437 |
RGD:14700989 |
NCBI chrNW_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936549:7,015,595...7,016,246
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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 chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
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G |
Keap1 |
kelch like ECH associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chrNW_004936659:785,059...793,775
Ensembl chrNW_004936659:782,340...793,688
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G |
Lgals1 |
galectin 1 |
|
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:18225978 |
RGD:2316551 |
NCBI chrNW_004936492:3,407,704...3,411,197
Ensembl chrNW_004936492:3,407,049...3,411,222
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G |
LOC101963150 |
sterol 26-hydroxylase, mitochondrial |
treatment |
ISO |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589
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G |
LOC101970910 |
cytochrome P450 7A1 |
treatment |
ISO |
mRNA:decreased expression:liver, nucleus (rat) mRNA:decreased expression:liver (rat) |
RGD |
PMID:28660384 PMID:29360226 |
RGD:14995480 RGD:21203516 |
NCBI chrNW_004936496:4,599,138...4,605,653
Ensembl chrNW_004936496:4,599,138...4,605,653
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LOC101977223 |
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase |
treatment |
ISO |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chrNW_004936695:2,263,868...2,265,373
Ensembl chrNW_004936695:2,263,868...2,265,373
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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 chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765
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Mapk1 |
mitogen-activated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936619:1,889,841...1,932,646
Ensembl chrNW_004936619:1,889,708...1,932,646
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Mapk14 |
mitogen-activated protein kinase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232
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Mapk3 |
mitogen-activated protein kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180
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Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936728:1,775,746...1,893,895
Ensembl chrNW_004936728:1,775,641...1,893,907
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Mapk9 |
mitogen-activated protein kinase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936739:551,678...602,027
Ensembl chrNW_004936739:551,629...602,047
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Mmp2 |
matrix metallopeptidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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Mpo |
myeloperoxidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070
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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 chrNW_004936473:27,672,237...27,676,339
Ensembl chrNW_004936473:27,671,797...27,676,372
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Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30026087 PMID:31900718 |
RGD:21201303 |
NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Nos3 |
nitric oxide synthase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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Nr1h4 |
nuclear receptor subfamily 1 group H member 4 |
disease_progression treatment |
ISO |
human gene in mouse model protein:increased expression:liver (rat) mRNA:increased expression:liver (rat) |
RGD |
PMID:14623915 PMID:22057115 PMID:29138817 PMID:29360226 |
RGD:14928333 RGD:14995480 RGD:15042871 RGD:1625205 |
NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
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Oprm1 |
opioid receptor mu 1 |
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ISO |
mRNA:decreased expression:hypothalamus, hippocampus |
RGD |
PMID:25290008 |
RGD:401842371 |
NCBI chrNW_004936489:6,506,207...6,567,136
Ensembl chrNW_004936489:6,506,207...6,548,946
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Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
ISO |
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RGD |
PMID:18466260 |
RGD:10449503 |
NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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Ptn |
pleiotrophin |
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ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:18225978 |
RGD:2316551 |
NCBI chrNW_004936592:1,706,979...1,806,345
Ensembl chrNW_004936592:1,707,693...1,730,617
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Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:30026087 |
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NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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Setd7 |
SET domain containing 7, histone lysine methyltransferase |
treatment |
ISO |
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RGD |
PMID:24097032 |
RGD:9491846 |
NCBI chrNW_004936535:8,094,479...8,143,108
Ensembl chrNW_004936535:8,094,178...8,137,580
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Slc22a1 |
solute carrier family 22 member 1 |
|
ISO |
protein:decreased expression:kidney |
RGD |
PMID:20814153 |
RGD:7243879 |
NCBI chrNW_004936489:11,534,095...11,556,759
Ensembl chrNW_004936489:11,534,095...11,556,745
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Slc22a2 |
solute carrier family 22 member 2 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:20814153 |
RGD:7243879 |
NCBI chrNW_004936489:11,605,403...11,627,786
Ensembl chrNW_004936489:11,594,480...11,627,786
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Tgfb1 |
transforming growth factor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:30026087 PMID:31932644 |
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NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
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Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241
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Tlr4 |
toll like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Tjp2 |
tight junction protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial primary biliary cirrhosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32439973 |
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NCBI chrNW_004936503:5,414,330...5,539,895
Ensembl chrNW_004936503:5,497,832...5,539,090
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Glud1 |
glutamate dehydrogenase 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:10431747 |
RGD:6484593 |
NCBI chrNW_004936601:5,415,857...5,435,964
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LOC101961358 |
mitochondrial chaperone BCS1 |
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ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 More...
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NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708
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Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome |
OMIM ClinVar |
PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30006928 PMID:32174975 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 More...
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NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
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Ank1 |
ankyrin 1 |
severity |
ISO |
DNA:deletion mutation:exon: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant |
RGD ClinVar |
PMID:14671619 PMID:25741868 PMID:28492532 |
RGD:11251681 |
NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
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Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
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Dhodh |
dihydroorotate dehydrogenase (quinone) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711
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Epb42 |
erythrocyte membrane protein band 4.2 |
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ISO |
ClinVar Annotator: match by term: Spherocytosis, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
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Gpi |
glucose-6-phosphate isomerase |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
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Klf1 |
KLF transcription factor 1 |
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ISO |
DNA:missense mutation:exon:p.E339D (1065A>T) (human) |
RGD MouseDO |
PMID:20691777 |
RGD:10769342 |
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
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LOC101973775 |
olfactory receptor 10Z1 |
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ISO |
ClinVar Annotator: match by term: Spherocytosis, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936740:1,765,462...1,766,403
Ensembl chrNW_004936740:1,765,462...1,766,403
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
|
ISO |
ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant |
ClinVar |
PMID:25741868 PMID:28492532 PMID:36231035 |
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NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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Spta1 |
spectrin alpha, erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive |
ClinVar |
PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:30976395 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 More...
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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Sptb |
spectrin beta, erythrocytic |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant |
ClinVar |
PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 |
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NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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Umps |
uridine monophosphate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
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Add2 |
adducin 2 |
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ISO |
OMIM:182900 |
MouseDO |
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NCBI chrNW_004936491:14,856,764...14,971,161
Ensembl chrNW_004936491:14,862,531...14,971,329
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Ank1 |
ankyrin 1 |
|
ISO |
ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive |
OMIM ClinVar |
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 PMID:9887280 PMID:11102985 PMID:11167760 PMID:11372755 PMID:11527968 PMID:12899723 PMID:15071790 PMID:16037067 PMID:16199547 PMID:17327413 PMID:17576681 PMID:21099109 PMID:24033266 PMID:25741868 PMID:27292444 PMID:27427187 PMID:28102861 PMID:28492532 PMID:29396846 PMID:29449435 PMID:29572776 PMID:29597199 PMID:30207817 PMID:31016877 PMID:31122244 PMID:31602632 PMID:31669644 PMID:31723846 PMID:31980736 PMID:32436265 PMID:32518793 PMID:32641076 PMID:32702754 PMID:33014018 PMID:33074480 PMID:33116287 PMID:33620149 PMID:33868383 PMID:34335240 PMID:34953813 PMID:36071563 PMID:36598564 PMID:36816036 PMID:38592584 More...
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NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
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Epb42 |
erythrocyte membrane protein band 4.2 |
|
ISO |
OMIM:182900 |
MouseDO |
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NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
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Spta1 |
spectrin alpha, erythrocytic 1 |
|
ISO |
OMIM:182900 |
MouseDO |
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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Plekhg3 |
pleckstrin homology and RhoGEF domain containing G3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936495:8,373,985...8,414,616
Ensembl chrNW_004936495:8,398,397...8,414,006
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Sptb |
spectrin beta, erythrocytic |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition |
OMIM ClinVar |
PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 PMID:8667615 PMID:8844207 PMID:9536098 PMID:9714702 PMID:11703334 PMID:17576681 PMID:19538529 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28102861 PMID:28492532 PMID:29572776 PMID:29758562 PMID:30198572 PMID:30486584 PMID:31122244 PMID:31126250 PMID:31602632 PMID:31807509 PMID:32436265 PMID:32641076 PMID:33074480 PMID:36135330 PMID:38592584 More...
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NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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LOC101973775 |
olfactory receptor 10Z1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936740:1,765,462...1,766,403
Ensembl chrNW_004936740:1,765,462...1,766,403
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G |
Spta1 |
spectrin alpha, erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive |
OMIM ClinVar |
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:9192783 PMID:15071791 PMID:15384986 PMID:18815189 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27292444 PMID:27667160 PMID:27863252 PMID:28492532 PMID:29105823 PMID:29396846 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31602632 PMID:31723846 PMID:31854503 PMID:32266426 PMID:32436265 PMID:32581362 PMID:32888494 PMID:33074880 PMID:33556202 More...
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 |
ClinVar |
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:1722314 PMID:1737855 PMID:2146504 PMID:2196932 PMID:2527366 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8011524 PMID:8206915 PMID:8282779 PMID:8343110 PMID:8434259 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8640229 PMID:8704215 PMID:8943874 PMID:9012689 PMID:9207478 PMID:9233560 PMID:9312167 PMID:9565662 PMID:9600966 PMID:9734643 PMID:9854053 PMID:9973643 PMID:10403343 PMID:10580570 PMID:10745622 PMID:10766130 PMID:10926824 PMID:10942416 PMID:11155072 PMID:11208088 PMID:11380459 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:16107207 PMID:16227998 PMID:16420521 PMID:17215882 PMID:18266205 PMID:19229254 PMID:19289107 PMID:19565014 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:21039340 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:23842529 PMID:24033266 PMID:24652967 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:27058983 PMID:27292444 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29572776 PMID:29627839 PMID:29725771 PMID:30192042 PMID:30230413 PMID:31122244 PMID:31126250 PMID:31147440 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32266426 PMID:32641076 PMID:32926342 PMID:33532864 PMID:34093240 PMID:34746046 PMID:35738466 PMID:35845192 PMID:36203343 PMID:36231035 PMID:37353797 More...
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NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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Epb42 |
erythrocyte membrane protein band 4.2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 5 |
OMIM ClinVar |
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:8547071 PMID:8635206 PMID:10406914 PMID:12176912 PMID:15692067 PMID:19508687 PMID:25741868 PMID:28492532 PMID:29402830 PMID:32726712 PMID:36203343 More...
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NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
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Cldn1 |
claudin 1 |
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ISO |
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome |
OMIM ClinVar |
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936578:98,489...113,125
Ensembl chrNW_004936578:98,273...113,153
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Cldn16 |
claudin 16 |
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ISO |
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome |
ClinVar |
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma |
ClinVar |
PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 PMID:28135048 PMID:28195569 PMID:28492532 PMID:32390703 More...
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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Arid1a |
AT-rich interaction domain 1A |
disease_progression exacerbates |
ISO |
mRNA,protein:decreased expression:intrahepatic bile duct (human) |
RGD |
PMID:27433094 PMID:30849962 PMID:31665232 |
RGD:126775257 RGD:126781775 RGD:14974231 |
NCBI chrNW_004936474:11,148,857...11,197,312
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Bap1 |
BRCA1 associated deubiquitinase 1 |
disease_progression |
ISO |
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RGD |
PMID:27864835 |
RGD:150340628 |
NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
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Becn1 |
beclin 1 |
disease_progression |
ISO |
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RGD |
PMID:30849962 |
RGD:14974231 |
NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
severity |
ISO |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:24139215 |
RGD:14398746 |
NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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Fas |
Fas cell surface death receptor |
disease_progression |
ISO |
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RGD |
PMID:11003620 |
RGD:14700701 |
NCBI chrNW_004936735:209,369...234,582
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Faslg |
Fas ligand |
severity |
ISO |
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RGD |
PMID:11003620 |
RGD:14700701 |
NCBI chrNW_004936481:14,789,547...14,795,780
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Foxp3 |
forkhead box P3 |
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ISO |
DNA:hypomethylation:liver |
RGD |
PMID:24291052 |
RGD:38599002 |
NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
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Hsp90aa1 |
heat shock protein 90 alpha family class A member 1 |
disease_progression |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:24796583 |
RGD:152177907 |
NCBI chrNW_004936835:316,767...321,999
Ensembl chrNW_004936835:316,767...321,990
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Hsp90ab1 |
heat shock protein 90 alpha family class B member 1 |
disease_progression |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:24796583 |
RGD:152177907 |
NCBI chrNW_004936476:15,830,459...15,836,994
Ensembl chrNW_004936476:15,830,459...15,835,535
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
no_association |
ISO |
DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) |
RGD |
PMID:26245674 |
RGD:14974229 |
NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
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Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
disease_progression |
ISO |
mRNA:decreased expression:liver (mouse) DNA:mutations: : |
RGD |
PMID:22824796 PMID:32463951 |
RGD:149735894 RGD:14985256 |
NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341
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Kdm5c |
lysine demethylase 5C |
exacerbates |
ISO |
protein:decreased expression:bile duct (human) |
RGD |
PMID:32714863 |
RGD:151361175 |
NCBI chrNW_004936751:159,628...204,136
Ensembl chrNW_004936751:167,920...203,966
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Kras |
KRAS proto-oncogene, GTPase |
disease_progression |
ISO |
DNA:mutations:: |
RGD MouseDO |
PMID:24139215 |
RGD:14398746 |
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Lcn2 |
lipocalin 2 |
treatment |
ISO |
Protein:increased expression:bile duct |
RGD |
PMID:24939880 |
RGD:126790491 |
NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
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LOC101962705 |
membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 |
disease_progression |
ISO |
protein:increased expression:intrahepatic bile duct (human) |
RGD |
PMID:30377796 |
RGD:152998946 |
NCBI chrNW_004936637:985,706...1,154,670
Ensembl chrNW_004936637:560,298...1,151,850
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Lrp1b |
LDL receptor related protein 1B |
exacerbates |
ISO |
DNA:mutations:multiple: (human) |
RGD |
PMID:33014052 |
RGD:150429786 |
NCBI chrNW_004936469:35,000,773...36,160,216
Ensembl chrNW_004936469:35,203,594...36,159,283
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Pbrm1 |
polybromo 1 |
disease_progression |
ISO |
protein:increased expression:intrahepatic bile duct (human) |
RGD |
PMID:27864835 PMID:30377796 |
RGD:150340628 RGD:152998946 |
NCBI chrNW_004936473:3,382,618...3,476,049
Ensembl chrNW_004936473:3,382,260...3,476,052
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Pten |
phosphatase and tensin homolog |
disease_progression |
ISO |
protein:decreased expression:liver (human) |
RGD |
PMID:24796583 |
RGD:152177907 |
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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Rnf43 |
ring finger protein 43 |
exacerbates |
ISO |
mRNA, protein:decreased expression:liver, bile duct epithelium (human) |
RGD |
PMID:26980022 |
RGD:151361125 |
NCBI chrNW_004936490:4,660,904...4,742,669
Ensembl chrNW_004936490:4,683,725...4,741,828
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Smad4 |
SMAD family member 4 |
disease_progression |
ISO |
mRNA,protein:decreased expression:intrahepatic bile duct |
RGD |
PMID:16917866 PMID:23981608 |
RGD:18936999 RGD:21066336 |
NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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Tep1 |
telomerase associated protein 1 |
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ISO |
mRNA:increased expression:hepatocyte,biliary epithelium. |
RGD |
PMID:10498642 |
RGD:152977753 |
NCBI chrNW_004936877:575,264...613,965
Ensembl chrNW_004936877:575,037...641,642
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Abcb11 |
ATP binding cassette subfamily B member 11 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis |
RGD ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16290310 PMID:16641580 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24627769 PMID:25741868 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27239116 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:30210030 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32581362 PMID:32808743 PMID:32860008 PMID:33215027 PMID:33915153 PMID:34016879 PMID:35257483 More...
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RGD:1598583 |
NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
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Abcb4 |
ATP binding cassette subfamily B member 4 |
treatment |
ISO |
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis |
RGD ClinVar |
PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 PMID:17726488 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:21119540 PMID:22331132 PMID:22527017 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24806754 PMID:25741868 PMID:25755532 PMID:26126923 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:28039895 PMID:28492532 PMID:28587926 PMID:28776642 PMID:28924228 PMID:29761167 PMID:30036524 PMID:30449124 PMID:30935993 PMID:31130284 PMID:31181191 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:35626323 PMID:35894240 PMID:35905201 More...
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RGD:14695045 |
NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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Ap1s1 |
adaptor related protein complex 1 subunit sigma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23423674 |
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NCBI chrNW_004936543:1,052,692...1,058,070
Ensembl chrNW_004936543:1,052,732...1,058,483
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
susceptibility |
ISO |
DNA:mutation ClinVar Annotator: match by term: Progressive intrahepatic cholestasis |
RGD ClinVar |
PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 PMID:15239083 PMID:19260995 PMID:19731236 PMID:19918981 PMID:20232290 PMID:20414253 PMID:22525741 PMID:25741868 PMID:26382629 PMID:26678486 PMID:26858187 PMID:26879107 PMID:28492532 PMID:28733223 PMID:30366773 PMID:31450232 PMID:33437900 PMID:33666275 PMID:34016879 More...
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RGD:1599397 |
NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
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Egr1 |
early growth response 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18364083 PMID:22094456 |
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NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
CBAS1, OMIM:607765 |
RGD |
PMID:12679481 |
RGD:1599971 |
NCBI chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553
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LOC101964975 |
interleukin-8 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:24493287 |
RGD:26884361 |
NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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LOC101973029 |
cytochrome P450 2E1 |
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ISO |
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RGD |
PMID:29404441 |
RGD:14700873 |
NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102
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Mafg |
MAF bZIP transcription factor G |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20146260 |
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NCBI chrNW_004936594:5,425,117...5,430,057
Ensembl chrNW_004936594:5,424,940...5,430,097
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Nr0b2 |
nuclear receptor subfamily 0 group B member 2 |
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ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:18578998 |
RGD:2311605 |
NCBI chrNW_004936474:11,316,857...11,319,669
Ensembl chrNW_004936474:11,316,700...11,319,669
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Nr1h4 |
nuclear receptor subfamily 1 group H member 4 |
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ISO |
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RGD |
PMID:15644430 |
RGD:1625202 |
NCBI chrNW_004936492:13,315,265...13,365,186
Ensembl chrNW_004936492:13,315,265...13,374,034
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Slc22a1 |
solute carrier family 22 member 1 |
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ISO |
mRNA, protein:decreased expression:liver |
RGD |
PMID:19002567 |
RGD:7243885 |
NCBI chrNW_004936489:11,534,095...11,556,759
Ensembl chrNW_004936489:11,534,095...11,556,745
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Slc22a2 |
solute carrier family 22 member 2 |
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ISO |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:19002567 |
RGD:7243885 |
NCBI chrNW_004936489:11,605,403...11,627,786
Ensembl chrNW_004936489:11,594,480...11,627,786
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Tjp2 |
tight junction protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614073 |
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NCBI chrNW_004936503:5,414,330...5,539,895
Ensembl chrNW_004936503:5,497,832...5,539,090
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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
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Hdac3 |
histone deacetylase 3 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chrNW_004936504:12,530,546...12,546,556
Ensembl chrNW_004936504:12,530,528...12,546,556
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Il18 |
interleukin 18 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23627780 |
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NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28851649 |
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NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 |
OMIM ClinVar |
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:32650689 PMID:32695736 PMID:33223529 PMID:35894240 More...
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NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
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Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:29992621 PMID:30091450 PMID:30934130 PMID:31538484 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 PMID:34016879 More...
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NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
OMIM ClinVar |
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12624161 PMID:12746424 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33390354 PMID:33742171 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 PMID:36277956 More...
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NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree |
ClinVar |
PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 PMID:16133180 PMID:19914852 PMID:20413436 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:29068549 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:35715958 More...
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NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Klatskin tumor |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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Arid1a |
AT-rich interaction domain 1A |
disease_progression |
ISO |
DNA:deletions |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chrNW_004936474:11,148,857...11,197,312
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Gata6 |
GATA binding protein 6 |
sexual_dimorphism |
ISO |
DNA:mutations |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
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Kmt2c |
lysine methyltransferase 2C |
onset |
ISO |
DNA:mutations |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365
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Kras |
KRAS proto-oncogene, GTPase |
disease_progression |
ISO |
DNA:mutations |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Prex2 |
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
sexual_dimorphism |
ISO |
DNA:substitutions, insertion/deletions: (human) |
RGD |
PMID:33387086 |
RGD:126848756 |
NCBI chrNW_004936496:6,005,410...6,284,332
Ensembl chrNW_004936496:6,008,277...6,284,346
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Vps50 |
VPS50 subunit of EARP/GARPII complex |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis |
ClinVar OMIM |
PMID:25741868 PMID:34037727 |
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NCBI chrNW_004936803:530,543...651,461
Ensembl chrNW_004936803:530,402...651,502
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Utp4 |
UTP4 small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis |
ClinVar |
PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 PMID:20385600 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 PMID:28492532 More...
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NCBI chrNW_004936475:19,295,047...19,324,340
Ensembl chrNW_004936475:19,295,041...19,324,965
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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22022477 |
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NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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Adm |
adrenomedullin |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:20132852 |
RGD:7364952 |
NCBI chrNW_004936528:8,005,223...8,007,586
Ensembl chrNW_004936528:8,005,189...8,007,643
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Cd14 |
CD14 molecule |
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ISO |
mRNA:increased expression:ileum, liver, lung, spleen |
RGD |
PMID:25093541 |
RGD:9685190 |
NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
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Gpt |
glutamic--pyruvic transaminase |
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ISO |
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RGD |
PMID:9161836 |
RGD:11036102 |
NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
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Hmbs |
hydroxymethylbilane synthase |
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ISO |
Protein:increased activity:liver (rat) |
RGD |
PMID:3963818 |
RGD:4144803 |
NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810
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Hmgb1 |
high mobility group box 1 |
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ISO |
protein:increased expression:liver, plasma |
RGD |
PMID:21737101 |
RGD:10402168 |
NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580
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Irf5 |
interferon regulatory factor 5 |
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ISO |
mRNA,protein:increased expression:liver,nucleus: |
RGD |
PMID:21737101 |
RGD:10402168 |
NCBI chrNW_004936579:6,138,372...6,149,531
Ensembl chrNW_004936579:6,138,281...6,145,205
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Lbp |
lipopolysaccharide binding protein |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:25093541 |
RGD:9685190 |
NCBI chrNW_004936561:3,017,471...3,035,481
Ensembl chrNW_004936561:3,016,926...3,035,552
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Pcna |
proliferating cell nuclear antigen |
treatment |
ISO |
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RGD |
PMID:12917765 |
RGD:10448973 |
NCBI chrNW_004936485:13,766,221...13,771,215
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Tlr2 |
toll like receptor 2 |
treatment |
ISO |
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RGD |
PMID:29366780 |
RGD:15090858 |
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
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Ucp2 |
uncoupling protein 2 |
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ISO |
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RGD |
PMID:19632092 |
RGD:7204429 |
NCBI chrNW_004936498:3,059,700...3,066,112
Ensembl chrNW_004936498:3,059,297...3,066,197
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Unc45a |
unc-45 myosin chaperone A |
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ISO |
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 |
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NCBI chrNW_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Periampullary adenoma |
ClinVar |
PMID:25741868 PMID:27087319 PMID:28492532 PMID:32860008 |
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:28660384 |
RGD:21203516 |
NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741
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Abcb4 |
ATP binding cassette subfamily B member 4 |
disease_progression treatment |
ISO |
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18671305 PMID:20040336 PMID:21209952 PMID:30682444 |
RGD:14694982 RGD:153297773 |
NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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Abcc2 |
ATP binding cassette subfamily C member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver |
CTD RGD |
PMID:15542527 PMID:15770136 |
RGD:14700810 |
NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393
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Ace2 |
angiotensin converting enzyme 2 |
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ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chrNW_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702
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Agt |
angiotensinogen |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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Aqp4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:20451280 |
RGD:5148030 |
NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354
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Ca1 |
carbonic anhydrase 1 |
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ISO |
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RGD |
PMID:12806141 |
RGD:408425977 |
NCBI chrNW_004936544:246,797...257,798
Ensembl chrNW_004936544:246,797...257,650
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Ca2 |
carbonic anhydrase 2 |
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ISO |
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RGD |
PMID:12806141 |
RGD:408425977 |
NCBI chrNW_004936544:362,591...379,151
Ensembl chrNW_004936544:362,591...380,223
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Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver: |
CTD RGD |
PMID:12126966 PMID:15770052 |
RGD:14995336 |
NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
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Ccn2 |
cellular communication network factor 2 |
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ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:19371232 |
RGD:2314517 |
NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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Cd14 |
CD14 molecule |
disease_progression |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923
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Cd3d |
CD3d molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chrNW_004936542:3,400,129...3,403,628
Ensembl chrNW_004936542:3,399,845...3,403,634
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Cd68 |
CD68 molecule |
disease_progression |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chrNW_004936595:858,289...861,131
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Cd80 |
CD80 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chrNW_004936536:6,462,080...6,483,450
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Cdh5 |
cadherin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chrNW_004936475:16,738,772...16,775,000
Ensembl chrNW_004936475:16,738,748...16,775,123
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Cdkn1a |
cyclin dependent kinase inhibitor 1A |
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ISO |
protein:increased expression:epithelial cell: |
RGD |
PMID:18456456 |
RGD:8662434 |
NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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Cenpb |
centromere protein B |
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ISO |
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RGD |
PMID:8911074 |
RGD:27226708 |
NCBI chrNW_004936485:14,914,644...14,917,265
Ensembl chrNW_004936485:14,914,644...14,916,458
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Clec16a |
C-type lectin domain containing 16A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chrNW_004936530:9,089,478...9,264,563
Ensembl chrNW_004936530:9,089,476...9,264,592
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Col1a1 |
collagen type I alpha 1 chain |
treatment |
ISO |
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RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
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ISO |
protein:increased expression:liver |
RGD |
PMID:26627607 |
RGD:11528851 |
NCBI chrNW_004936483:17,216,288...17,296,430
Ensembl chrNW_004936483:17,216,213...17,294,534
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Cpeb4 |
cytoplasmic polyadenylation element binding protein 4 |
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ISO |
protein:increased expression:liver |
RGD |
PMID:26627607 |
RGD:11528851 |
NCBI chrNW_004936609:1,793,027...1,858,586
Ensembl chrNW_004936609:1,793,027...1,858,597
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Ctla4 |
cytotoxic T-lymphocyte associated protein 4 |
susceptibility disease_progression no_association |
ISO |
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) DNA:SNP:CDS:60G>A(rs3087243)(human) DNA:SNPs: :rs231775, rs3087243, rs231725 (human) DNA:SNP:CDS:49A>G(human) |
RGD |
PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562 |
RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 |
NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
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Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329
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Cxcr5 |
C-X-C motif chemokine receptor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chrNW_004936542:3,860,536...3,872,528
Ensembl chrNW_004936542:3,860,536...3,872,116
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Cygb |
cytoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783
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Dag1 |
dystroglycan 1 |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:12177244 |
RGD:2314895 |
NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124
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Dennd1b |
DENN domain containing 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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NCBI chrNW_004936567:6,131,433...6,353,003
Ensembl chrNW_004936567:6,134,179...6,348,086
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Dnase1 |
deoxyribonuclease 1 |
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ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:28263100 |
RGD:38500241 |
NCBI chrNW_004936694:704,948...715,846
Ensembl chrNW_004936694:704,692...710,501
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15651265 |
RGD:9685530 |
NCBI chrNW_004936669:901,192...906,765
Ensembl chrNW_004936669:901,104...906,782
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Fas |
Fas cell surface death receptor |
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ISO |
protein:increased expression:lymphocyte: |
RGD |
PMID:26429926 |
RGD:14700711 |
NCBI chrNW_004936735:209,369...234,582
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Foxp3 |
forkhead box P3 |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
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Gch1 |
GTP cyclohydrolase 1 |
treatment |
ISO |
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RGD |
PMID:20132096 |
RGD:329970291 |
NCBI chrNW_004936697:232,048...275,420
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Hamp |
hepcidin antimicrobial peptide |
treatment |
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:19652645 PMID:23704825 |
RGD:11041639 RGD:11041732 |
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
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Hhip |
hedgehog interacting protein |
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ISO |
mRNA:decreased expression: |
RGD |
PMID:18375471 |
RGD:11552599 |
NCBI chrNW_004936535:4,210,305...4,305,930
Ensembl chrNW_004936535:4,210,305...4,305,930
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Hif1a |
hypoxia inducible factor 1 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22271822 |
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NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
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Hmox1 |
heme oxygenase 1 |
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ISO |
mRNA, protein:increased expression:liver, lung |
RGD |
PMID:12114196 |
RGD:625603 |
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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Icam1 |
intercellular adhesion molecule 1 |
treatment |
ISO |
associated with Graft vs Host Disease; |
RGD |
PMID:10051478 |
RGD:11520783 |
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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G |
Icam3 |
intercellular adhesion molecule 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chrNW_004936659:667,503...673,969
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Ifng |
interferon gamma |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
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G |
Igfbp1 |
insulin like growth factor binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
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NCBI chrNW_004936478:20,494,190...20,499,001
Ensembl chrNW_004936478:20,494,203...20,499,001
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G |
Il10 |
interleukin 10 |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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G |
Il12a |
interleukin 12A |
susceptibility treatment |
ISO |
DNA:SNPs, haplotype: :rs6441286, rs574808(human) DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) CTD Direct Evidence: marker/mechanism DNA:SNP: :rs62270414(human) |
RGD CTD |
PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 |
RGD:25440489 RGD:25440498 RGD:25440500 |
NCBI chrNW_004936519:6,166,060...6,180,652
Ensembl chrNW_004936519:6,175,261...6,180,396
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G |
Il12b |
interleukin 12B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20639880 |
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NCBI chrNW_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076
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G |
Il12rb1 |
interleukin 12 receptor subunit beta 1 |
susceptibility |
ISO |
RNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:23910013 |
RGD:14700865 |
NCBI chrNW_004936596:3,062,620...3,076,349
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G |
Il1b |
interleukin 1 beta |
disease_progression |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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G |
Il6 |
interleukin 6 |
disease_progression |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Il7r |
interleukin 7 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
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