RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Ifitm1
interferon induced transmembrane protein 1
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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Abcb4
ATP binding cassette subfamily B member 4
ISS
OMIM:600803
MouseDO
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Pot1
protection of telomeres 1
ISO
mRNA:decreased expression:gall bladder
RGD
PMID:28643740
RGD:151356941
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Pla2g2a
phospholipase A2 group IIA
ISO
RGD
PMID:9695991
RGD:6482724
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphism:promoter:
RGD
PMID:18392554
RGD:10768868
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12902918
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12902918
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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Cckar
cholecystokinin A receptor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle
RGD
PMID:15908333
RGD:2314139
NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
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Cftr
CF transmembrane conductance regulator
ISO
mRNA, protein:altered expression:liver (human)
RGD
PMID:12184527
RGD:21408573
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human)
RGD
PMID:16381022
RGD:2317619
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Soat2
sterol O-acyltransferase 2
susceptibility
ISO
RGD
PMID:11100118
RGD:1556516
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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Sqle
squalene epoxidase
ISO
RGD
PMID:14684588
RGD:1581398
NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:15062879
RGD:1581417
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
associated with Spherocytosis, Hereditary;DNA:insertion:promoter associated with Alpha-Thalassemia;DNA:repeat:promoter:(TA) associated with Beta-Thalassemia; DNA:mutation,repeat:cds,promoter; p. G71R,(TA) (human)
RGD
PMID:10498597 PMID:17593033 PMID:18081723
RGD:6482853 , RGD:10769341 , RGD:10768828
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ace
angiotensin I converting enzyme
ISO
DNA:polymorphism: :rs4646994 (human)
RGD
PMID:20438364
RGD:2325207
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cdk1
cyclin-dependent kinase 1
ISO
protein:increased expression:gallbladder
RGD
PMID:15017593
RGD:2722465
NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Ifitm1
interferon induced transmembrane protein 1
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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Apc
APC regulator of WNT signaling pathway
disease_progression
ISO
DNA:SNP::rs11954856(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Apob
apolipoprotein B
susceptibility
ISO
DNA:SNP: :rs693 (human)
RGD
PMID:20082485 PMID:17696941
RGD:2325761 , RGD:2325764
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Axin2
axin 2
disease_progression
ISO
DNA:SNP::s4791171(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
mRNA:increased expression:gallbladder
RGD
PMID:18497548
RGD:2324871
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Calr
calreticulin
exacerbates
ISO
mRNA, protein:increased expression:gall bladder (human)
RGD
PMID:33591948
RGD:150521682
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Ccr5
C-C motif chemokine receptor 5
onset
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:18405329
RGD:2317570
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
susceptibility
ISO
DNA:transition:5' utr:-34T>C rs743572 (human)
RGD
PMID:16381022
RGD:2317619
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:transition: :6235T>C (human) DNA:polymorphism: :p.I462V (human)
RGD
PMID:18287863 PMID:18990008
RGD:2317212 , RGD:2317211
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dpyd
dihydropyrimidine dehydrogenase
disease_progression
ISO
RGD
PMID:16619549
RGD:2317631
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Egf
epidermal growth factor
susceptibility
ISO
DNA:SNP: :+61A>G (rs4444903)(human)
RGD
PMID:8093356 PMID:18571008
RGD:2317646 , RGD:2317641
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Gli1
GLI family zinc finger 1
disease_progression
ISO
DNA:SNP::rs2228226(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:26925680
RGD:14700928
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
ISO
protein:increased expression:gall bladder (human)
RGD
PMID:26318166
RGD:11528126
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Keap1
Kelch-like ECH-associated protein 1
ISO
DNA:missense mutations, frameshift mutations:cds:multiple (human)
RGD
PMID:18692501
RGD:6893398
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 PMID:16361624 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:23014527 PMID:23182985 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25741868 PMID:26242988 PMID:28492532 PMID:31666701 PMID:35658005 More...
NCBI chr 4:178,185,418...178,218,484
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Lrp1b
LDL receptor related protein 1B
ameliorates
ISO
DNA:mutations:multiple: (human)
RGD
PMID:32898339
RGD:150429787
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23888070 PMID:23946963 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Rbp4
retinol binding protein 4
disease_progression
ISO
associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human)
RGD
PMID:37273108
RGD:329849105
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Rictor
RPTOR independent companion of MTOR, complex 2
ISO
DNA:CNV, amplification:exon (human)
RGD
PMID:24508317
RGD:152995522
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 PMID:22810475 PMID:28492532 More...
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8276238 PMID:8425176 PMID:8527048 PMID:8688334 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11370630 PMID:11782540 PMID:11793474 PMID:12406399 PMID:12506399 PMID:12826609 PMID:14673037 PMID:14743206 PMID:15925506 PMID:15993273 PMID:16199547 PMID:16489069 PMID:16818505 PMID:16861262 PMID:16969106 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17881637 PMID:18978813 PMID:19378321 PMID:19556618 PMID:19711436 PMID:19714490 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20436704 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21601526 PMID:21665182 PMID:21761402 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24382691 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25293557 PMID:25544776 PMID:25587027 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26718964 PMID:26787237 PMID:26911350 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28160093 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30322717 PMID:30327374 PMID:30720243 PMID:31105275 PMID:31127191 PMID:31742824 PMID:31775759 PMID:32187361 PMID:32817165 PMID:33471991 PMID:34240179 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphisms: :p.R194W, p.R399Q (human)
RGD
PMID:19266243
RGD:2317128
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
RGD
PMID:7795450
RGD:2317512
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Actr3
actin related protein 3
severity
ISO
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)
RGD
PMID:23320827
RGD:11571623
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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Antxr1
ANTXR cell adhesion molecule 1
severity
ISO
RGD
PMID:21545221
RGD:9684943
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:gall bladder (human)
RGD
PMID:28295868
RGD:153297817
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Cfl1
cofilin 1
severity
ISO
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)
RGD
PMID:23320827
RGD:11571623
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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Clptm1l
CLPTM1-like
susceptibility
ISO
DNA:SNP, haplotype: :rs401681(human)
RGD
PMID:29450669
RGD:150530629
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Carcinoma of gallbladder
ClinVar
PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Carcinoma of gallbladder
ClinVar
PMID:26619011
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Gpx3
glutathione peroxidase 3
severity
ISO
protein:decreased expression:gallbladder (human)
RGD
PMID:24167362
RGD:151665515
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Il10
interleukin 10
susceptibility
ISO
associated with Cholelithiasis
RGD
PMID:19065724
RGD:2317654
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Mir155
microRNA 155
disease_progression
ISO
miRNA:increased expression:gall bladder
RGD
PMID:26885061
RGD:21079444
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:31882471
RGD:25330344
NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Carcinoma of gallbladder
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:32778138 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ptch1
patched 1
disease_progression
ISO
RGD
PMID:22407314
RGD:150523794
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rac1
Rac family small GTPase 1
exacerbates
ISO
protein:increased expression:gallbladder (human)
RGD
PMID:21853342
RGD:155230819
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP, haplotype: :rs2736100(human)
RGD
PMID:29450669
RGD:150530629
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgfa
transforming growth factor alpha
ISO
RGD
PMID:9542514
RGD:2317470
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Tjp1
tight junction protein 1
ISO
protein:decreased expression:gallbladder
RGD
PMID:19184677
RGD:2325030
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Carcinoma of gallbladder
ClinVar
PMID:1565143 PMID:8023157 PMID:8062826 PMID:8164043 PMID:8336941 PMID:8401536 PMID:8633021 PMID:8825920 PMID:9049183 PMID:9049184 PMID:9290701 PMID:9546439 PMID:9632751 PMID:10616528 PMID:11370630 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:12007217 PMID:12509279 PMID:12726864 PMID:12826609 PMID:15077194 PMID:15607980 PMID:15607981 PMID:16209708 PMID:16312222 PMID:16401470 PMID:16633321 PMID:16778209 PMID:16818505 PMID:16861262 PMID:17311302 PMID:17530187 PMID:17606709 PMID:17875924 PMID:18511570 PMID:18555592 PMID:19462533 PMID:19556618 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20586629 PMID:21113594 PMID:21343334 PMID:21519010 PMID:21590121 PMID:21761402 PMID:22006311 PMID:22186996 PMID:22427690 PMID:22553421 PMID:22887876 PMID:22915647 PMID:23031740 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23713777 PMID:23792586 PMID:24573247 PMID:25433984 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26467025 PMID:26497680 PMID:26585234 PMID:26619011 PMID:26911350 PMID:27189670 PMID:27276561 PMID:27463065 PMID:27557517 PMID:27680515 PMID:27813088 PMID:27895058 PMID:27959731 PMID:28279309 PMID:28369373 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28975465 PMID:29070607 PMID:29979965 PMID:30216591 PMID:30224644 PMID:30327374 PMID:30730202 PMID:31119730 PMID:31296311 PMID:31775759 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33245408 PMID:33300245 PMID:33633026 PMID:33840814 PMID:35820297 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:18946757
RGD:2325157
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Ubr5
ubiquitin protein ligase E3 component n-recognin 5
ameliorates
ISO
human cell line in a mouse model
RGD
PMID:30775814
RGD:151665192
NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Gallbladder disease 1 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis DNA:missense mutation:cds:p.Thr175Ala(human)
OMIM ClinVar RGD
PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:27256251 PMID:28012258 PMID:28220208 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:30449124 PMID:31181191 PMID:31538484 PMID:31538486 PMID:32581362 PMID:32893960 PMID:33201677 PMID:33390354 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:36277956 PMID:24914347 More...
RGD:14694981
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcg5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: Gallbladder disease 4
ClinVar
PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 PMID:25741868 PMID:28492532 More...
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
ISO
ClinVar Annotator: match by term: Gallbladder disease 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4360855 PMID:11099417 PMID:11452359 PMID:11893785 PMID:12124998 PMID:15054092 PMID:15375183 PMID:16029460 PMID:17632509 PMID:20854103 PMID:21039838 PMID:21274884 PMID:22898925 PMID:23685560 PMID:24497850 PMID:24657386 PMID:25741868 PMID:28492532 PMID:28521186 PMID:29590070 PMID:30241732 PMID:31901240 PMID:32041611 PMID:32088153 PMID:32702746 PMID:33228147 PMID:33269076 PMID:34650182 PMID:36973604 More...
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Apc
APC regulator of WNT signaling pathway
ISO
DNA:hypermethylation:promoter
RGD
PMID:15447999
RGD:2317199
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16904648
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cckar
cholecystokinin A receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25025063
NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24997986 PMID:24997986
RGD:126781772
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
DNA:SNP: :p.D312N (rs1799793) (human)
RGD
PMID:21283657
RGD:5688734
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Faslg
Fas ligand
disease_progression
ISO
protein:increased expression:gallbladder
RGD
PMID:15968727
RGD:2317739
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fgf2
fibroblast growth factor 2
ISO
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fscn1
fascin actin-bundling protein 1
severity
ISO
RGD
PMID:19259612
RGD:2317784
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:16760134
RGD:2317808
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hgf
hepatocyte growth factor
ISO
RGD
PMID:15118756
RGD:2317899
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Il1b
interleukin 1 beta
susceptibility
ISO
associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human)
RGD
PMID:18940468
RGD:2317216
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il4r
interleukin 4 receptor
ISO
mRNA:increased expression:gallbladder
RGD
PMID:18798553
RGD:2317263
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Keap1
Kelch-like ECH-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18692501
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr 4:178,185,418...178,218,484
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Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
protein:increased expression:gallbladder (human)
RGD
PMID:19956499
RGD:2317582
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression resistance
ISO
protein:decreased expression:tumor (human) DNA:transition:exon:EX5-25C>T rs12917 (human)
RGD
PMID:18158568 PMID:18708406
RGD:2317637 , RGD:2317636
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mmp2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:gallbladder
RGD
PMID:18665467
RGD:2325743
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Muc1
mucin 1, cell surface associated
severity
ISO
mRNA,protein:increased expression:gallbladder
RGD
PMID:10398137
RGD:2324857
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc16
mucin 16, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:17542293
RGD:2325132
NCBI chr 8:16,164,531...16,323,126
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
protein:increased expression:gallbladder
RGD
PMID:15260848
RGD:2324651
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Muc4
mucin 4, cell surface associated
ISO
mRNA,protein:increased expression:gallbladder
RGD
PMID:18397823
RGD:2324921
NCBI chr11:68,008,245...68,053,242
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:decreased expression:gallbladder
RGD
PMID:15260848
RGD:2324651
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
protein:decreased expression:gallbladder
RGD
PMID:15260848
RGD:2324651
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:SNP: :rs1495741(human)
RGD
PMID:20972438
RGD:11056814
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Ncam1
neural cell adhesion molecule 1
disease_progression
ISO
protein:increased expression:epithelial cell
RGD
PMID:15100237
RGD:2326070
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:gallbladder associated with Gallbladder Diseases; protein:decreased expression:gllbladder
RGD
PMID:14991947 PMID:14704000
RGD:2325250 , RGD:2325251
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr1h2
nuclear receptor subfamily 1, group H, member 2
ISO
DNA:deletion:exon:exons 5 and 6, estrogen dependent
RGD
PMID:20679224
RGD:6482195
NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:polymorphism: :p.S326C (human) DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human)
RGD
PMID:19266243 PMID:20564624
RGD:2317128 , RGD:8657150
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human)
RGD
PMID:19606394 PMID:19455278 PMID:17575102
RGD:2317181 , RGD:2317182 , RGD:2317188
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Runx3
RUNX family transcription factor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:15471559
RGD:2324957
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Tgfb1
transforming growth factor, beta 1
susceptibility
ISO
DNA:polymorphism: : -509C>T (human)
RGD
PMID:18571008
RGD:2317641
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbs1
thrombospondin 1
disease_progression
ISO
RGD
PMID:10427124
RGD:2325029
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:24997986
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Uchl1
ubiquitin C-terminal hydrolase L1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16965602
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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Abcg8
ATP binding cassette subfamily G member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632509
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Cck
cholecystokinin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1631261
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21823526
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7461467
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Smad4
SMAD family member 4
ISO
mRNA,protein:decreased expression:intrahepatic bile duct
RGD
PMID:16917866
RGD:18936999
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:repeat:promoter:(TA) associated with Beta-Thalassemia;DNA:repeat:promoter:(TA)
RGD
PMID:15388579 PMID:14555305
RGD:10769331 , RGD:10769338
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Rfx6
regulatory factor X, 6
ISO
ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
ClinVar
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:26559129 PMID:27523286 PMID:28492532 PMID:29026101 More...
NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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Rfx6
regulatory factor X, 6
ISO
ClinVar Annotator: match by term: Mitchell-Riley syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:26559129 PMID:27523286 PMID:28492532 PMID:29026101 More...
NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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Actr3
actin related protein 3
ISO
RGD
PMID:25809205
RGD:11570559
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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Mir192
microRNA 192
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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