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.
Term: Gallbladder Neoplasms
Accession: DOID:9000011
browse the term
Definition: Tumors or cancer of the gallbladder.
Synonyms: exact_synonym: gallbladder neoplasm; tumor of the gallbladder
primary_id: MESH:D005706
xref: EFO:0004606
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APC
APC regulator of WNT signaling pathway
IDA
DNA:hypermethylation:promoter
RGD
PMID:15447999
RGD:2317199
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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BCL2
BCL2 apoptosis regulator
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:16904648
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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CCAT1
colon cancer associated transcript 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752646
NCBI chr 8:127,207,382...127,219,268
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CCKAR
cholecystokinin A receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25025063
NCBI chr 4:26,481,396...26,490,484
Ensembl chr 4:26,481,396...26,490,484
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EGFR
epidermal growth factor receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ERBB2
erb-b2 receptor tyrosine kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ERBB3
erb-b2 receptor tyrosine kinase 3
EXP IAGP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24997986 PMID:24997986
RGD:126781772
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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ERBB4
erb-b2 receptor tyrosine kinase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IAGP
DNA:SNP: :p.D312N (rs1799793) (human)
RGD
PMID:21283657
RGD:5688734
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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FASLG
Fas ligand
disease_progression
IEP
protein:increased expression:gallbladder
RGD
PMID:15968727
RGD:2317739
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FGF2
fibroblast growth factor 2
IEP
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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FSCN1
fascin actin-bundling protein 1
severity
IEP
RGD
PMID:19259612
RGD:2317784
NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
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GSTP1
glutathione S-transferase pi 1
susceptibility
IAGP
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:16760134
RGD:2317808
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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HGF
hepatocyte growth factor
IMP
RGD
PMID:15118756
RGD:2317899
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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IL1B
interleukin 1 beta
susceptibility
IAGP
associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human)
RGD
PMID:18940468
RGD:2317216
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL4R
interleukin 4 receptor
IEP
mRNA:increased expression:gallbladder
RGD
PMID:18798553
RGD:2317263
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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KEAP1
kelch like ECH associated protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18692501
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
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KRAS
KRAS proto-oncogene, GTPase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24997986
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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MET
MET proto-oncogene, receptor tyrosine kinase
severity
IEP
protein:increased expression:gallbladder (human)
RGD
PMID:19956499
RGD:2317582
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MGMT
O-6-methylguanine-DNA methyltransferase
resistance disease_progression
IAGP IEP
DNA:transition:exon:EX5-25C>T rs12917 (human) protein:decreased expression:tumor (human)
RGD
PMID:18708406 PMID:18158568
RGD:2317636 , RGD:2317637
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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MMP2
matrix metallopeptidase 2
disease_progression
IEP
protein:increased expression:gallbladder
RGD
PMID:18665467
RGD:2325743
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MUC1
mucin 1, cell surface associated
severity
IEP
mRNA,protein:increased expression:gallbladder
RGD
PMID:10398137
RGD:2324857
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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MUC16
mucin 16, cell surface associated
IEP
protein:increased expression:serum
RGD
PMID:17542293
RGD:2325132
NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390
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MUC2
mucin 2, oligomeric mucus/gel-forming
IEP
protein:increased expression:gallbladder
RGD
PMID:15260848
RGD:2324651
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
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MUC4
mucin 4, cell surface associated
IEP
mRNA,protein:increased expression:gallbladder
RGD
PMID:18397823
RGD:2324921
NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
IEP
protein:decreased expression:gallbladder
RGD
PMID:15260848
RGD:2324651
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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MUC6
mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)
IEP
protein:decreased expression:gallbladder
RGD
PMID:15260848
RGD:2324651
NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
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NAT2
N-acetyltransferase 2
susceptibility
IAGP
DNA:SNP: :rs1495741(human)
RGD
PMID:20972438
RGD:11056814
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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NCAM1
neural cell adhesion molecule 1
disease_progression
IEP
protein:increased expression:epithelial cell
RGD
PMID:15100237
RGD:2326070
NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
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NOS2
nitric oxide synthase 2
IEP
protein:increased expression:gallbladder associated with Gallbladder Diseases; protein:decreased expression:gllbladder
RGD
PMID:14991947 PMID:14704000
RGD:2325250 , RGD:2325251
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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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 chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388
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OGG1
8-oxoguanine DNA glycosylase
susceptibility
IAGP
DNA:polymorphism: :p.S326C (human) DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human)
RGD
PMID:19266243 PMID:20564624
RGD:2317128 , RGD:8657150
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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PTGS2
prostaglandin-endoperoxide synthase 2
susceptibility
IAGP ISO IEP
DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human)
RGD
PMID:19455278 PMID:17575102 PMID:19606394
RGD:2317182 , RGD:2317188 , RGD:2317181
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RUNX3
RUNX family transcription factor 3
IDA
DNA:hypermethylation:promoter
RGD
PMID:15471559
RGD:2324957
NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
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TGFB1
transforming growth factor beta 1
susceptibility
IAGP
DNA:polymorphism: : -509C>T (human)
RGD
PMID:18571008
RGD:2317641
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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THBS1
thrombospondin 1
disease_progression
IEP
RGD
PMID:10427124
RGD:2325029
NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
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TP53
tumor protein p53
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:24997986
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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UCHL1
ubiquitin C-terminal hydrolase L1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16965602
NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
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DDR2
discoidin domain receptor tyrosine kinase 2
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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IFITM1
interferon induced transmembrane protein 1
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272
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ACE
angiotensin I converting enzyme
IAGP
DNA:polymorphism: :rs4646994 (human)
RGD
PMID:20438364
RGD:2325207
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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CDK1
cyclin dependent kinase 1
IEP
protein:increased expression:gallbladder
RGD
PMID:15017593
RGD:2722465
NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852
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DDR2
discoidin domain receptor tyrosine kinase 2
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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IFITM1
interferon induced transmembrane protein 1
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272
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APC
APC regulator of WNT signaling pathway
disease_progression
IAGP
DNA:SNP::rs11954856(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOB
apolipoprotein B
susceptibility
IAGP
DNA:SNP: :rs693 (human)
RGD
PMID:17696941 PMID:20082485
RGD:2325764 , RGD:2325761
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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APOE
apolipoprotein E
susceptibility
IAGP
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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AXIN2
axin 2
disease_progression
IAGP
DNA:SNP::s4791171(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
IEP
mRNA:increased expression:gallbladder
RGD
PMID:18497548
RGD:2324871
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
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CALR
calreticulin
exacerbates
IEP
mRNA, protein:increased expression:gall bladder (human)
RGD
PMID:33591948
RGD:150521682
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CCR5
C-C motif chemokine receptor 5
onset
IAGP
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:18405329
RGD:2317570
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CTNNB1
catenin beta 1
IAGP
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 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
susceptibility
IAGP
DNA:transition:5' utr:-34T>C rs743572 (human)
RGD
PMID:16381022
RGD:2317619
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
IAGP
DNA:transition: :6235T>C (human) DNA:polymorphism: :p.I462V (human)
RGD
PMID:18287863 PMID:18990008
RGD:2317212 , RGD:2317211
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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DPYD
dihydropyrimidine dehydrogenase
disease_progression
IEP
RGD
PMID:16619549
RGD:2317631
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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EGF
epidermal growth factor
susceptibility
IAGP IEP
DNA:SNP: :+61A>G (rs4444903)(human)
RGD
PMID:18571008 PMID:8093356
RGD:2317641 , RGD:2317646
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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GLI1
GLI family zinc finger 1
disease_progression
IAGP
DNA:SNP::rs2228226(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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GSTM1
glutathione S-transferase mu 1
IEP
RGD
PMID:26925680
RGD:14700928
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
IEP
protein:increased expression:gall bladder (human)
RGD
PMID:26318166
RGD:11528126
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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KEAP1
kelch like ECH associated protein 1
IAGP
DNA:missense mutations, frameshift mutations:cds:multiple (human)
RGD
PMID:18692501
RGD:6893398
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
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KRAS
KRAS proto-oncogene, GTPase
IAGP
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 chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
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 3:41,224,408...41,225,607
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LRP1B
LDL receptor related protein 1B
ameliorates
IAGP
DNA:mutations:multiple: (human)
RGD
PMID:32898339
RGD:150429787
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
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 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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RBP4
retinol binding protein 4
disease_progression
IEP
associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human)
RGD
PMID:37273108
RGD:329849105
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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RICTOR
RPTOR independent companion of MTOR complex 2
IAGP
DNA:CNV, amplification:exon (human)
RGD
PMID:24508317
RGD:152995522
NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402
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SMAD4
SMAD family member 4
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 PMID:22810475 PMID:28492532 More...
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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TP53
tumor protein p53
IAGP
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 chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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XRCC1
X-ray repair cross complementing 1
susceptibility
IAGP
DNA:polymorphisms: :p.R194W, p.R399Q (human)
RGD
PMID:19266243
RGD:2317128
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
IAGP
RGD
PMID:7795450
RGD:2317512
NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
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ACTR3
actin related protein 3
severity
IEP
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)
RGD
PMID:23320827
RGD:11571623
NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596
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ANTXR1
ANTXR cell adhesion molecule 1
severity
IEP
RGD
PMID:21545221
RGD:9684943
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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BIRC3
baculoviral IAP repeat containing 3
exacerbates
IEP
mRNA:increased expression:gall bladder (human)
RGD
PMID:28295868
RGD:153297817
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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CFL1
cofilin 1
severity
IEP
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)
RGD
PMID:23320827
RGD:11571623
NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
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CLPTM1L
CLPTM1 like
susceptibility
IAGP
DNA:SNP, haplotype: :rs401681(human)
RGD
PMID:29450669
RGD:150530629
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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ERBB2
erb-b2 receptor tyrosine kinase 2
IAGP
ClinVar Annotator: match by term: Carcinoma of gallbladder
ClinVar
PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ERBB3
erb-b2 receptor tyrosine kinase 3
IAGP
ClinVar Annotator: match by term: Carcinoma of gallbladder
ClinVar
PMID:26619011
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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GPX3
glutathione peroxidase 3
severity
IEP
protein:decreased expression:gallbladder (human)
RGD
PMID:24167362
RGD:151665515
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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IL10
interleukin 10
susceptibility
IAGP
associated with Cholelithiasis
RGD
PMID:19065724
RGD:2317654
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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MIR155
microRNA 155
disease_progression
IEP
miRNA:increased expression:gall bladder
RGD
PMID:26885061
RGD:21079444
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MTUS1
microtubule associated scaffold protein 1
disease_progression
IEP
RGD
PMID:31882471
RGD:25330344
NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
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 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PTCH1
patched 1
disease_progression
IEP
RGD
PMID:22407314
RGD:150523794
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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RAC1
Rac family small GTPase 1
exacerbates
IEP
protein:increased expression:gallbladder (human)
RGD
PMID:21853342
RGD:155230819
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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TERT
telomerase reverse transcriptase
susceptibility
IAGP
DNA:SNP, haplotype: :rs2736100(human)
RGD
PMID:29450669
RGD:150530629
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TGFA
transforming growth factor alpha
IEP
RGD
PMID:9542514
RGD:2317470
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TJP1
tight junction protein 1
IEP
protein:decreased expression:gallbladder
RGD
PMID:19184677
RGD:2325030
NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
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TP53
tumor protein p53
IAGP
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 chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TYMP
thymidine phosphorylase
disease_progression
IEP
RGD
PMID:18946757
RGD:2325157
NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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UBR5
ubiquitin protein ligase E3 component n-recognin 5
ameliorates
IMP
human cell line in a mouse model
RGD
PMID:30775814
RGD:151665192
NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
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