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.
G
Ager
advanced glycosylation end product-specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24036142
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17169978
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
G
Gip
gastric inhibitory polypeptide
ISO
protein:increased expression:plasma (rat)
RGD
PMID:3892654
RGD:2312553
NCBI chr11:95,915,358...95,921,657
Ensembl chr11:95,915,371...95,921,657
G
Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18784349
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Hnf1b
HNF1 homeobox B
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human)
RGD
PMID:15068978
RGD:2312751
NCBI chr11:83,741,035...83,796,743
Ensembl chr11:83,740,889...83,796,645
G
Il6
interleukin 6
IAGP
insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)
RGD
PMID:18772604
RGD:2307287
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3519326
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
G
Msln
mesothelin
ISO
protein:increased expression:serum
RGD
PMID:19843662
RGD:2326052
NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352
G
Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6143199
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
G
Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20495387
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
G
Ctf1
cardiotrophin 1
IAGP
MouseDO
NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
G
Gucy2c
guanylate cyclase 2c
IAGP
MouseDO
NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763
G
Lep
leptin
IAGP
MouseDO
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Neil1
nei endonuclease VIII-like 1 (E. coli)
IAGP
MouseDO
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
G
Pparg
peroxisome proliferator activated receptor gamma
IAGP
MouseDO
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
G
Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
ISO
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
G
Prkci
protein kinase C, iota
IAGP
MouseDO
NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108
G
Sirt3
sirtuin 3
IAGP
MouseDO
NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222
G
Slc2a9
solute carrier family 2 (facilitated glucose transporter), member 9
IAGP
MouseDO
NCBI chr 5:38,506,616...38,660,488
Ensembl chr 5:38,506,616...38,660,486
G
Atp2a2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ISO
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288
G
Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
G
Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
G
Fadd
Fas associated via death domain
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
G
Fas
Fas cell surface death receptor
ISO
RGD
PMID:30172001
RGD:13792561
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Lep
leptin
IAGP
OMIM:605552
MouseDO
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Lpl
lipoprotein lipase
treatment
ISO
RGD
PMID:26996629
RGD:13794382
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
G
Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
G
Tlr2
toll-like receptor 2
susceptibility
IMP
RGD
PMID:19841034
RGD:15090861
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
Trp53inp1
transformation related protein 53 inducible nuclear protein 1
IAGP
OMIM:605552
MouseDO
NCBI chr 4:11,156,441...11,174,379
Ensembl chr 4:11,156,431...11,174,379
G
Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar
PMID:25741868 PMID:29696776 PMID:33644933
NCBI chr 4:132,738,797...132,805,421
Ensembl chr 4:132,738,571...132,805,421
G
Dyrk1b
dual-specificity tyrosine phosphorylation regulated kinase 1b
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:25741909 PMID:28492532 PMID:32041611 More...
NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719
G
Cela2a
chymotrypsin-like elastase family, member 2A
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
OMIM ClinVar
PMID:25741868 PMID:31358993
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
G
Atp2a2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
treatment
ISO
RGD
PMID:18416460
RGD:13782074
NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288
G
Bcl2l1
BCL2-like 1
ISO
protein:increased expression:pancreas, mitochondrion (rat)
RGD
PMID:19331832
RGD:11353791
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
G
Becn1
beclin 1, autophagy related
treatment
IEP
RGD
PMID:22850625
RGD:11560530
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
RGD
PMID:10451498
RGD:10043817
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
G
Ednra
endothelin receptor type A
treatment
ISO
RGD
PMID:12799311
RGD:1581841
NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093
G
Fas
Fas cell surface death receptor
severity
IEP IMP
protein:increased expression:Kupffer cell:
RGD
PMID:15797225 PMID:15797225
RGD:14700708 , RGD:14700708
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Fasl
Fas ligand
severity
IEP IMP
protein:increased expression:Kupffer cell:
RGD
PMID:15797225 PMID:15797225
RGD:14700708 , RGD:14700708
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Gss
glutathione synthetase
ISO
RGD
PMID:17897920
RGD:11353819
NCBI chr 2:155,405,101...155,434,730
Ensembl chr 2:155,405,101...155,434,730
G
Hmgb1
high mobility group box 1
treatment
ISO
RGD
PMID:23706497
RGD:10402063
NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
G
Hspa5
heat shock protein 5
ISO
protein:increased expression:neutrophil:
RGD
PMID:26464680
RGD:11354914
NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
G
Icam1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:23706497 PMID:10201790
RGD:10402063 , RGD:11520782
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:25323753
RGD:11049477
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:24876883
RGD:10402805
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Jak1
Janus kinase 1
treatment
ISO
RGD
PMID:21369693
RGD:19165136
NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
G
Kmo
kynurenine 3-monooxygenase
disease_progression
IMP ISO
RGD
PMID:26752518 PMID:28398044
RGD:11342439 , RGD:13703053
NCBI chr 1:175,459,759...175,488,419
Ensembl chr 1:175,447,947...175,489,682
G
Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
RGD
PMID:8913708
RGD:11062095
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
G
Lamp2
lysosomal-associated membrane protein 2
IEP
protein:decreased expression:pancreas
RGD
PMID:22850625
RGD:11560530
NCBI chr X:37,488,524...37,545,337
Ensembl chr X:37,490,234...37,545,331
G
Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
IEP
RGD
PMID:22850625
RGD:11560530
NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993
G
Mir155
microRNA 155
treatment
IMP IEP
RGD
PMID:29937734 PMID:30497068
RGD:21403683 , RGD:21408596
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
G
Parp1
poly (ADP-ribose) polymerase family, member 1
IMP
RGD
PMID:16127429
RGD:11075069
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
G
Proc
protein C
treatment
ISO
RGD
PMID:19680809
RGD:11100040
NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
G
Procr
protein C receptor, endothelial
treatment
ISO
protein:increased expression:blood
RGD
PMID:25688263 PMID:24749346
RGD:13515127 , RGD:13515128
NCBI chr 2:155,592,159...155,597,391
Ensembl chr 2:155,593,037...155,597,391
G
Ptafr
platelet-activating factor receptor
treatment
ISO
RGD
PMID:21633536
RGD:9999225
NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994
G
Reg1
regenerating islet-derived 1
severity
ISO
mRNA:increased expression:pancreas (rat)
RGD
PMID:1985964 PMID:19129610
RGD:729900 , RGD:9850139
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
G
Reg3b
regenerating islet-derived 3 beta
ISO
protein:increased expression:serum (rat)
RGD
PMID:11066135
RGD:9831384
NCBI chr 6:78,347,868...78,350,449
Ensembl chr 6:78,347,640...78,350,449
G
Serpinc1
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
treatment
ISO
RGD
PMID:19546838
RGD:11035262
NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
G
Spink1
serine peptidase inhibitor, Kazal type 1
treatment
ISO
RGD
PMID:15765407
RGD:10043090
NCBI chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622
G
Tnf
tumor necrosis factor
ISO
associated with Anemia, Hemolytic
RGD
PMID:12845374 PMID:15164724
RGD:10449461 , RGD:1580295
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
protein:increased expression:serum
RGD
PMID:15164724
RGD:1580295
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
protein:increased expression:serum
RGD
PMID:15164724
RGD:1580295
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
G
Vwf
Von Willebrand factor
ISO
protein:increased expression:plasma:
RGD
PMID:17708840
RGD:11079229
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
G
Adcyap1
adenylate cyclase activating polypeptide 1
ISO
RGD
PMID:15702783
RGD:2325308
NCBI chr17:93,506,448...93,513,967
Ensembl chr17:93,506,445...93,513,965
G
Arg1
arginase, liver
ISO
RGD
PMID:20697209
RGD:4142795
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
G
Becn1
beclin 1, autophagy related
ISO
protein:increased expression:pancreas
RGD
PMID:21926933
RGD:6483068
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
G
Birc5
baculoviral IAP repeat-containing 5
ISO
mRNA:increased expression:pancreas
RGD
PMID:12604914
RGD:2293139
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
G
Btg2
BTG anti-proliferation factor 2
ISO
mRNA:increased expression:liver, kidney, pancreas
RGD
PMID:9712737
RGD:2289078
NCBI chr 1:134,002,603...134,006,893
Ensembl chr 1:134,002,908...134,006,858
G
C5ar1
complement component 5a receptor 1
IMP
RGD
PMID:11292607
RGD:5130168
NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465
G
Calca
calcitonin/calcitonin-related polypeptide, alpha
resistance
ISO
RGD
PMID:19684430
RGD:5684345
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
G
Casp3
caspase 3
ISO
RGD
PMID:18288275
RGD:2293324
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
G
Ccl2
C-C motif chemokine ligand 2
severity treatment
ISO
mRNA:increased expression:pancreas
RGD
PMID:18642776 PMID:19050604
RGD:2307010 , RGD:11062108
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Cd46
CD46 antigen, complement regulatory protein
severity
ISO
RGD
PMID:16425382
RGD:1600479
NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
G
Cd59a
CD59a antigen
severity
ISO
protein:decreased expression:pancreas, acinar cell
RGD
PMID:16425382
RGD:1600479
NCBI chr 2:103,926,177...103,945,755
Ensembl chr 2:103,926,146...103,945,699
G
Cd59b
CD59b antigen
severity
ISO
protein:decreased expression:pancreas, acinar cell
RGD
PMID:16425382
RGD:1600479
NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
G
Ctsb
cathepsin B
ISO
protein:increased activity:pancreas (rat)
RGD
PMID:17723883
RGD:2315517
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:pancreatic acinar cell
RGD
PMID:19818401
RGD:5135004
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
G
Cxcl2
C-X-C motif chemokine ligand 2
severity
ISO
RGD
PMID:18642776
RGD:2307010
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
G
Hc
hemolytic complement
IAGP
RGD
PMID:11292607
RGD:5130168
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:pancreas, lung (rat)
RGD
PMID:20950211
RGD:4145335
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Il17a
interleukin 17A
ISO
protein:increased expression:pancreas, serum (rat)
RGD
PMID:22990529
RGD:9068935
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il1b
interleukin 1 beta
ISO
mRNA:increased expression:peritoneal macrophages (rat)
RGD
PMID:22964727
RGD:7204517
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
ISO
rat model treated with human protein
RGD
PMID:7736749
RGD:8551826
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Il6
interleukin 6
treatment
ISO
protein:increased expression:plasma (rat)
RGD
PMID:11780340 PMID:19050604
RGD:11062058 , RGD:11062108
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
RGD
PMID:12612911
RGD:727512
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
G
Mmp2
matrix metallopeptidase 2
ISO
mRNA:increased expression:pancreas (rat)
RGD
PMID:11590325
RGD:7207204
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
treatment
ISO
RGD
PMID:19174608
RGD:10414072
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
G
Nos1
nitric oxide synthase 1, neuronal
treatment
ISO
RGD
PMID:23300603
RGD:7257665
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
G
Nos2
nitric oxide synthase 2, inducible
ISO
protein:increased enzyme activity:pancreas
RGD
PMID:15257108
RGD:2325241
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
G
Pdx1
pancreatic and duodenal homeobox 1
ISO
protein:increased expression:epithelial cell of pancreas (rat)
RGD
PMID:12210084
RGD:2311232
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
G
Pthlh
parathyroid hormone-like peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25035110
NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681
G
Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
protein:increased expression:pancreas
RGD
PMID:18241655
RGD:2298789
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Selp
selectin, platelet
ISO
RGD
PMID:19451746
RGD:2312307
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
disease_progression
ISO
protein:increased expression:plasma (rat)
RGD
PMID:17446839 PMID:15257107
RGD:8547894 , RGD:13208542
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Serpinf2
serine (or cysteine) peptidase inhibitor, clade F, member 2
ISO
protein:increased expression:plasma
RGD
PMID:10423332
RGD:1625538
NCBI chr11:75,322,562...75,330,327
Ensembl chr11:75,322,558...75,330,417
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Serping1
serine (or cysteine) peptidase inhibitor, clade G, member 1
ISO
protein:decreased expression:plasma
RGD
PMID:10360224
RGD:8661651
NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
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Tacr1
tachykinin receptor 1
ISO
mRNA,protein:increased expression:lung
RGD
PMID:12857498
RGD:5147821
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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Tbxas1
thromboxane A synthase 1, platelet
ISO
RGD
PMID:9700944
RGD:1601470
NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:liver
RGD
PMID:16524509
RGD:2312724
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:liver
RGD
PMID:16524509
RGD:2312724
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr9
toll-like receptor 9
ISO
mRNA, protein:increased expression:pancreas (rat)
RGD
PMID:18376319
RGD:5130184
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Arf1
ADP-ribosylation factor 1
treatment
IEP
RGD
PMID:22570480
RGD:9684857
NCBI chr11:59,102,237...59,119,042
Ensembl chr11:59,102,238...59,119,096
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Birc5
baculoviral IAP repeat-containing 5
ISO
mRNA,protein:increased expression:pancreas
RGD
PMID:19726343
RGD:9586043
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Bmi1
Bmi1 polycomb ring finger oncogene
IEP
protein:increased expression:pancreatic acinar cell:
RGD
PMID:19585519
RGD:9491843
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Cd163
CD163 antigen
ISO
associated with liver disease;protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cx3cl1
C-X3-C motif chemokine ligand 1
treatment
ISO
RGD
PMID:22213034
RGD:9491790
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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F3
coagulation factor III
ISO
protein:increased expression:serum (human, mouse)
RGD
PMID:27923687
RGD:14398732
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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F7
coagulation factor VII
treatment
ISO
human protein in a rat model
RGD
PMID:17506000
RGD:11049543
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Il10
interleukin 10
no_association
ISO
DNA:SNP:promoter:-1082G>A (human) DNA:SNP:promoter: -819T>C (human)
RGD
PMID:27173345 PMID:27173345
RGD:14975140 , RGD:14975140
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Irf9
interferon regulatory factor 9
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:32462510
RGD:125093744
NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
mRNA,protein:decreased expression:jejunum
RGD
PMID:23599644
RGD:12910752
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Lep
leptin
ISO
associated with fatty liver disease; protein:increased expression:serum:
RGD
PMID:26634430
RGD:11552763
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Mir155
microRNA 155
severity
ISO
RGD
PMID:29937734 PMID:30497068
RGD:21403683 , RGD:21408596
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mtnr1b
melatonin receptor 1B
ISO
RGD
PMID:12510864
RGD:9588676
NCBI chr 9:15,773,910...15,785,852
Ensembl chr 9:15,735,824...15,785,852
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Reg3a
regenerating islet-derived 3 alpha
severity
ISO
RGD
PMID:19129610
RGD:9850139
NCBI chr 6:78,357,692...78,360,822
Ensembl chr 6:78,357,692...78,360,810
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Reg3b
regenerating islet-derived 3 beta
severity
ISO
RGD
PMID:18437087
RGD:9831433
NCBI chr 6:78,347,868...78,350,449
Ensembl chr 6:78,347,640...78,350,449
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Tlr4
toll-like receptor 4
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:18436016
RGD:14697701
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Trem1
triggering receptor expressed on myeloid cells 1
severity ameliorates
IEP ISO
RGD
PMID:26250893 PMID:19787284
RGD:11522077 , RGD:127284839
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: ACTH deficiency
ClinVar
PMID:25741868
NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
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Rpe65
retinal pigment epithelium 65
ISO
ClinVar Annotator: match by term: ACTH deficiency
ClinVar
PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 PMID:28492532 PMID:30576320 PMID:31273949 PMID:31630094 More...
NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958
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Tbx19
T-box 19
ISO IAGP
ClinVar Annotator: match by term: ACTH deficiency OMIM:201400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 PMID:15613420 PMID:16390921 PMID:17576681 PMID:17652218 PMID:22170728 PMID:25326635 PMID:25741868 PMID:28492532 PMID:33423260 More...
NCBI chr 1:164,965,403...164,988,342
Ensembl chr 1:164,965,424...164,988,342
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12203118
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
DNA:missense mutations: :p.L1156F, Q1352H (human)
RGD
PMID:26089335
RGD:11566036
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Pthlh
parathyroid hormone-like peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22280800
NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681
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Ugt1a7c
UDP glucuronosyltransferase 1 family, polypeptide A7C
ISO
DNA:polymorphisms: :p.N129K, p.R131K, p.W208R (human)
RGD
PMID:12806614
RGD:2317503
NCBI chr 1:88,022,723...88,147,724
Ensembl chr 1:88,022,784...88,147,724
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Gdf1
growth differentiation factor 1
IAGP
OMIM:167750
MouseDO
NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 Ensembl chr 8:70,768,425...70,784,242
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Ihh
Indian hedgehog
IAGP
OMIM:167750
MouseDO
NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
severity
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human)
RGD
PMID:18155707
RGD:5147621
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Reg1
regenerating islet-derived 1
ISO
protein:decreased expression:pancreatic juice (human)
RGD
PMID:3147713
RGD:9850117
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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Cpt1a
carnitine palmitoyltransferase 1a, liver
ISO IAGP
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency CTD Direct Evidence: marker/mechanism OMIM:255120
OMIM ClinVar CTD MouseDO
PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 PMID:11441142 PMID:12111367 PMID:12189492 PMID:12351641 PMID:14517221 PMID:15110323 PMID:16169268 PMID:16199547 PMID:16958601 PMID:17576681 PMID:19181627 PMID:19217814 PMID:19345525 PMID:20301700 PMID:20696606 PMID:21253826 PMID:21763168 PMID:21962599 PMID:23090344 PMID:23430491 PMID:23430868 PMID:23430932 PMID:23700290 PMID:24033266 PMID:24847810 PMID:25449608 PMID:25640679 PMID:25741868 PMID:26010953 PMID:26820065 PMID:27066452 PMID:27341449 PMID:28125087 PMID:28468868 PMID:28492532 PMID:29519241 PMID:30101502 PMID:31319225 PMID:32088118 PMID:32561900 PMID:32781271 PMID:33845545 PMID:34131458 PMID:34869124 PMID:35360862 More...
NCBI chr19:3,372,328...3,435,735
Ensembl chr19:3,372,334...3,435,733
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Cpt2
carnitine palmitoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
CTD OMIM ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16199547 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17576681 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19239046 PMID:19762733 PMID:20301431 PMID:20543534 PMID:20661589 PMID:20810031 PMID:20830526 PMID:20934285 PMID:20952238 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22841441 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:26537576 PMID:26636822 PMID:27067077 PMID:27123472 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28074886 PMID:28492532 PMID:28516040 PMID:28529889 PMID:28600779 PMID:28779239 PMID:28801073 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31770251 PMID:32295037 PMID:32489884 PMID:32528171 PMID:33123633 More...
NCBI chr 4:107,761,179...107,780,786
Ensembl chr 4:107,761,178...107,780,807
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Cbs
cystathionine beta-synthase
ISO
protein:increased expression:arcuate nucleus (rat)
RGD
PMID:27778022
RGD:38456012
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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Gli1
GLI-Kruppel family member GLI1
ISO
RGD
PMID:24782623
RGD:12879405
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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Il1b
interleukin 1 beta
ISO
RGD
PMID:22173919
RGD:10044253
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Nqo1
NAD(P)H dehydrogenase, quinone 1
treatment
ISO
RGD
PMID:22359633
RGD:11035224
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Ptch1
patched 1
ISO
RGD
PMID:24782623
RGD:12879405
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:24782623
RGD:12879405
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Spink1
serine peptidase inhibitor, Kazal type 1
treatment
ISO
protein:increased secretion:pancreatic juice:
RGD
PMID:19904222 PMID:12123090 PMID:22173919
RGD:10043091 , RGD:10044261 , RGD:10044253
NCBI chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622
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Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:26645248
RGD:14995470
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Apoa4
apolipoprotein A-IV
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:11555832
RGD:5685680
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Bad
BCL2-associated agonist of cell death
severity
ISO
RGD
PMID:22549003
RGD:10053701
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
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Bmi1
Bmi1 polycomb ring finger oncogene
IEP ISO
protein:increased expression:pancreatic acinar cell: protein:increased expression:exocrine pancreas:
RGD
PMID:19585519 PMID:19585519
RGD:9491843 , RGD:9491843
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Cel
carboxyl ester lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774637
NCBI chr 2:28,445,831...28,453,415
Ensembl chr 2:28,445,807...28,453,415
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206817
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Col1a1
collagen, type I, alpha 1
treatment
ISO
RGD
PMID:21926544
RGD:8552779
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Cpa1
carboxypeptidase A1, pancreatic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955596
NCBI chr 6:30,639,217...30,645,360
Ensembl chr 6:30,639,217...30,645,362
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Ctrc
chymotrypsin C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to
CTD ClinVar
PMID:18059268 PMID:18172691 PMID:19453252 PMID:20625975 PMID:22427236 PMID:22942235 PMID:23951356 PMID:25569187 PMID:25741868 PMID:28492532 More...
NCBI chr 4:141,565,550...141,573,598
Ensembl chr 4:141,565,550...141,573,670
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Cygb
cytoglobin
ISO
RGD
PMID:14647402
RGD:9685173
NCBI chr11:116,536,421...116,544,887
Ensembl chr11:116,536,421...116,545,139
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Dll1
delta like canonical Notch ligand 1
ISO
mRNA,protein:increased expression:pancreas
RGD
PMID:17114010
RGD:6482236
NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134
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Ifng
interferon gamma
disease_progression
ISO
RGD
PMID:11345142
RGD:10755767
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Jag1
jagged 1
ISO
mRNA,protein:increased expression:pancreas
RGD
PMID:17114010
RGD:6482236
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Ngf
nerve growth factor
ISO
protein:increased expression:pancreas
RGD
PMID:16098667
RGD:5144071
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:12741461
RGD:5508378
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Prss2
serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16699518 PMID:18206817
NCBI chr 6:41,498,710...41,502,013
Ensembl chr 6:41,498,721...41,502,013
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Pthlh
parathyroid hormone-like peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25035110
NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681
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Reg1
regenerating islet-derived 1
ISO
protein:increased expression:pancreas, acinar cell, zymogen granule (rat)
RGD
PMID:12764608
RGD:9831428
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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Reg3b
regenerating islet-derived 3 beta
treatment
ISO
protein:increased expression:pancreas, acinar cell, zymogen granule (rat)
RGD
PMID:10505754 PMID:12764608
RGD:9831401 , RGD:9831428
NCBI chr 6:78,347,868...78,350,449
Ensembl chr 6:78,347,640...78,350,449
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Rnf2
ring finger protein 2
ISO
protein:increased expression:pancreas
RGD
PMID:19585519
RGD:9491843
NCBI chr 1:151,345,159...151,376,562
Ensembl chr 1:151,333,755...151,376,706
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:15980664 PMID:16849362 PMID:16885867 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18206817 PMID:18286680 PMID:18414673 PMID:18617776 PMID:18978175 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23017645 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:24909264 PMID:25010710 PMID:25206283 PMID:25741868 PMID:25927356 PMID:26632706 PMID:26719302 PMID:27535533 PMID:27578509 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793 PMID:29521951 PMID:31401021 PMID:34828289 PMID:10835640 More...
RGD:1599102
NCBI chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622
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Try10
trypsin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18206817
NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
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Abcc8
ATP-binding cassette, sub-family C member 8
ISO
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:mutations:exon:multiple DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human) DNA:mutations:exon, intron:multiple DNA:deletion: :p.S1387del (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:3202066 PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9536098 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10194514 PMID:10334322 PMID:10338089 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11692183 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15807877 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20215776 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20943781 PMID:21199866 PMID:21321069 PMID:21378087 PMID:21716120 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21989597 PMID:21992908 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22591706 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802590 PMID:22855730 PMID:23067144 PMID:23261959 PMID:23275527 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:24145932 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24937539 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25584046 PMID:25639667 PMID:25741868 PMID:25781672 PMID:25931474 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:26545620 PMID:26740944 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27908292 PMID:28270372 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28667717 PMID:29082728 PMID:29893194 PMID:30114684 PMID:30186238 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30462810 PMID:30487145 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31821855 PMID:32027066 PMID:32170320 PMID:32267248 PMID:32670376 PMID:32792356 PMID:32893419 PMID:33046911 PMID:33240318 PMID:33410562 PMID:33477506 PMID:33587123 PMID:34253504 PMID:34566892 PMID:34764980 PMID:34927408 PMID:34992182 PMID:36339418 PMID:36699461 PMID:7716548 PMID:23506826 PMID:23652837 PMID:20573158 PMID:16429405 PMID:24401662 PMID:21422196 PMID:18596924 More...
RGD:704365 , RGD:12790723 , RGD:11069847 , RGD:12790596 , RGD:11067821 , RGD:12790587 , RGD:11070657 , RGD:12743628
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
G
Gck
glucokinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hyperinsulinism
CTD ClinVar
PMID:15277402 PMID:19053014 PMID:19336674 PMID:21831042 PMID:23890519 PMID:25733449 PMID:27802864 PMID:31094068 PMID:34532767 PMID:34680961 More...
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
G
Glud1
glutamate dehydrogenase 1
ISO
DNA:missense mutations: :
RGD
PMID:9571255
RGD:1302513
NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
G
Hadh
hydroxyacyl-Coenzyme A dehydrogenase
ISO
DNA:deletion:cds (human)
RGD
PMID:14693719
RGD:2306664
NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750
G
Hnf4a
hepatic nuclear factor 4, alpha
ISO
DNA:mutations: : ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar RGD
PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 PMID:15793260 PMID:15928245 PMID:16883527 PMID:16946562 PMID:17563455 PMID:18268044 PMID:18414213 PMID:20164212 PMID:21105491 PMID:22140441 PMID:22232426 PMID:23227446 PMID:23247789 PMID:24033266 PMID:24097065 PMID:24476040 PMID:25041077 PMID:25631608 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26740944 PMID:26981542 PMID:27080136 PMID:27420379 PMID:27884173 PMID:28492532 PMID:29207974 PMID:29355436 PMID:29792621 PMID:30191603 PMID:31264968 PMID:31595705 PMID:32583173 PMID:33846082 PMID:34373539 PMID:34805411 PMID:35052457 PMID:35118593 PMID:35256061 PMID:20164212 More...
RGD:12904701
NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830
G
Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:SNPs:exon:c.151G>T, c.1017G>T (human) DNA:missense mutations, frameshift mutations:CDS:multiple DNA:deletion, frameshift mutation, missense mutations:exon:multiple DNA:deletion, insertion:exon DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD ClinVar RGD
PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:15886397 PMID:16357843 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:21119644 PMID:21544516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:23275527 PMID:24018988 PMID:24401662 PMID:25741868 PMID:26448950 PMID:26467025 PMID:27908292 PMID:28123437 PMID:28492532 PMID:29893194 PMID:30377186 PMID:32935446 PMID:23506826 PMID:23652837 PMID:24401662 PMID:17316607 PMID:24421282 More...
RGD:12790723 , RGD:11069847 , RGD:12790587 , RGD:12743643 , RGD:12743624
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
G
Kcnt2
potassium channel, subfamily T, member 2
ISO
ClinVar Annotator: match by term: KCNT2-related condition
ClinVar
PMID:25741868 PMID:29069600
NCBI chr 1:140,173,373...140,541,783
Ensembl chr 1:140,173,896...140,539,805
G
Tbc1d4
TBC1 domain family, member 4
ISO
RGD
PMID:19470471
RGD:7248544
NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
G
Adrb1
adrenergic receptor, beta 1
ISO
RGD
PMID:20203292
RGD:5129107
NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545
G
Adrb2
adrenergic receptor, beta 2
ISO
DNA:polymorphisms (human)
RGD
PMID:20203292 PMID:17502834
RGD:5129107 , RGD:4145099
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
G
Adrb3
adrenergic receptor, beta 3
ISO
protein:increased expression:bronchus
RGD
PMID:20203292
RGD:5129107
NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
G
Ager
advanced glycosylation end product-specific receptor
severity
ISO IEP
DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human)
RGD
PMID:21993476 PMID:24127697
RGD:6767553 , RGD:8695959
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
G
Akp3
alkaline phosphatase 3, intestine, not Mn requiring
IEP
mRNA,protein:decreased expression:intestine:
RGD
PMID:21970994
RGD:14349050
NCBI chr 1:87,052,676...87,056,450
Ensembl chr 1:87,052,695...87,055,634
G
Bglap
bone gamma carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:16622660
RGD:6483578
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
G
Ccl11
C-C motif chemokine ligand 11
ISO
protein:increased expression:paranasal sinus
RGD
PMID:17999785
RGD:4145455
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
G
Ccl17
C-C motif chemokine ligand 17
ISO
mRNA, protein:increased expression:neutrophil
RGD
PMID:18026571
RGD:4145491
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20438838
RGD:4143275
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20575639 PMID:19386685
RGD:5130907 , RGD:5130902
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
G
Cd14
CD14 antigen
susceptibility
ISO
protein:increased expression:Macrophages, Alveolar DNA:polymorphism:promoter:c. -159 C>T
RGD
PMID:20302606 PMID:19466271
RGD:4144794 , RGD:4144796
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:blood
RGD
PMID:15102009
RGD:7248443
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
G
Cftr
cystic fibrosis transmembrane conductance regulator
severity no_association disease_progression
IMP ISO IAGP
DNA:mutation:cds:p.G551D (mouse) ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis CTD Direct Evidence: marker/mechanism OMIM:219700 DNA:mutation: : DNA,protein:mutations,substitutions:exon: DNA:mutation:exon:p.R117H(human) DNA:deletion:exon:p.F508del(mouse) DNA:nonsense mutation:cds;c. 2143delT (human) DNA:mutations:multiple DNA:insertion:exon:c.3904_3905insT (human) DNA:splice-site mutation:intron: 3272-26A>G (human) DNA:mutation: :p.N1303K (human) DNA:mutations: : DNA:missense mutations: :p.F508C, S1251N DNA:missende mutation:exon:p.G551D (human) protein:altered expression:lung DNA:missense mutation:exon:p.W1282X(human)
ClinVar CTD MouseDO OMIM RGD
PMID:754013 PMID:1282016 PMID:1282900 PMID:1283148 PMID:1283149 PMID:1283151 PMID:1284466 PMID:1284468 PMID:1284471 PMID:1284477 PMID:1284478 PMID:1284529 PMID:1284530 PMID:1284531 PMID:1284534 PMID:1284535 PMID:1284537 PMID:1284538 PMID:1284539 PMID:1284540 PMID:1284541 PMID:1284542 PMID:1284627 PMID:1284639 PMID:1284889 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1372093 PMID:1373934 PMID:1373935 PMID:1374052 PMID:1376016 PMID:1376017 PMID:1377276 PMID:1379210 PMID:1379211 PMID:1379413 PMID:1380673 PMID:1380689 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384326 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1712984 PMID:1715308 PMID:1716180 PMID:1718974 PMID:1721624 PMID:1722350 PMID:1723032 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1867536 PMID:1903761 PMID:1937486 PMID:1944451 PMID:1977306 PMID:1990834 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2395135 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:2915972 PMID:3716676 PMID:5371902 PMID:6840743 PMID:6963320 PMID:7472820 PMID:7475569 PMID:7477025 PMID:7493947 PMID:7504969 PMID:7504970 PMID:7505689 PMID:7505690 PMID:7505693 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7506605 PMID:7508183 PMID:7508414 PMID:7509231 PMID:7509310 PMID:7509683 PMID:7509684 PMID:7509685 PMID:7512860 PMID:7512993 PMID:7513292 PMID:7513293 PMID:7513294 PMID:7513889 PMID:7515303 PMID:7516232 PMID:7516233 PMID:7516234 PMID:7516305 PMID:7517264 PMID:7517267 PMID:7517268 PMID:7518409 PMID:7518829 PMID:7519167 PMID:7520022 PMID:7520798 PMID:7520799 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7524909 PMID:7524910 PMID:7524913 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7526927 PMID:7526928 PMID:7526929 PMID:7527269 PMID:7529319 PMID:7529962 PMID:7530553 PMID:7530719 PMID:7531541 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7538127 PMID:7539080 PMID:7539210 PMID:7539342 PMID:7540133 PMID:7540587 PMID:7541273 PMID:7541274 PMID:7541510 PMID:7542223 PMID:7542347 PMID:7542778 PMID:7543317 PMID:7543385 PMID:7543567 PMID:7544319 PMID:7544320 PMID:7544788 PMID:7545856 PMID:7545869 PMID:7550227 PMID:7550243 PMID:7551394 PMID:7560099 PMID:7573058 PMID:7581390 PMID:7581406 PMID:7581407 PMID:7586569 PMID:7599637 PMID:7606851 PMID:7668304 PMID:7679367 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7681035 PMID:7682196 PMID:7682884 PMID:7682896 PMID:7682984 PMID:7683628 PMID:7683952 PMID:7683954 PMID:7684641 PMID:7684643 PMID:7684644 PMID:7684646 PMID:7686336 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7687986 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7689897 PMID:7689898 PMID:7689902 PMID:7691344 PMID:7691345 PMID:7691352 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7694298 PMID:7723568 PMID:7739684 PMID:7757078 PMID:7789957 PMID:7868128 PMID:7881429 PMID:8081395 PMID:8092189 PMID:8097485 PMID:8100293 PMID:8163293 PMID:8213163 PMID:8262525 PMID:8343799 PMID:8406518 PMID:8421472 PMID:8445619 PMID:8477260 PMID:8522333 PMID:8528204 PMID:8530001 PMID:8533846 PMID:8535440 PMID:8556303 PMID:8563237 PMID:8605891 PMID:8627844 PMID:8644755 PMID:8659542 PMID:8662892 PMID:8663008 PMID:8680406 PMID:8680407 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8723693 PMID:8723694 PMID:8723695 PMID:8740923 PMID:8741733 PMID:8800923 PMID:8818956 PMID:8825494 PMID:8825927 PMID:8829633 PMID:8829643 PMID:8834261 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8865181 PMID:8880589 PMID:8880910 PMID:8886242 PMID:8889582 PMID:8910333 PMID:8922636 PMID:8947061 PMID:8956039 PMID:8968585 PMID:8992448 PMID:9003498 PMID:9003508 PMID:9017943 PMID:9039981 PMID:9043501 PMID:9043706 PMID:9056552 PMID:9067754 PMID:9067761 PMID:9084934 PMID:9099843 PMID:9101293 PMID:9101301 PMID:9108869 PMID:9135274 PMID:9147636 PMID:9150159 PMID:9150843 PMID:9163660 PMID:9164051 PMID:9164328 PMID:9222768 PMID:9235853 PMID:9239681 PMID:9252549 PMID:9254853 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9298826 PMID:9305991 PMID:9321772 PMID:9345100 PMID:9374552 PMID:9375855 PMID:9379898 PMID:9383031 PMID:9401006 PMID:9401110 PMID:9417117 PMID:9429141 PMID:9435322 PMID:9439669 PMID:9452048 PMID:9452054 PMID:9452112 PMID:9459003 PMID:9459534 PMID:9475107 PMID:9482579 PMID:9493456 PMID:9499426 PMID:9507391 PMID:9512029 PMID:9521595 PMID:9536098 PMID:9550361 PMID:9550362 PMID:9554753 PMID:9557894 PMID:9598638 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9678705 PMID:9683582 PMID:9691989 PMID:9719631 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9797105 PMID:9799593 PMID:9804160 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PMID:27214204 PMID:27222777 PMID:27240813 PMID:27261451 PMID:27264265 PMID:27287722 PMID:27298017 PMID:27311679 PMID:27324553 PMID:27334259 PMID:27340661 PMID:27347467 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27488443 PMID:27533158 PMID:27535533 PMID:27555793 PMID:27577878 PMID:27578509 PMID:27625827 PMID:27659740 PMID:27660821 PMID:27662103 PMID:27665964 PMID:27673710 PMID:27706244 PMID:27707539 PMID:27717243 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27806795 PMID:27812499 PMID:27837951 PMID:27870577 PMID:27884173 PMID:27895116 PMID:27898234 PMID:27912062 PMID:27917292 PMID:27996019 PMID:28001373 PMID:28003230 PMID:28003367 PMID:28027573 PMID:28040058 PMID:28068001 PMID:28116329 PMID:28129809 PMID:28129813 PMID:28152038 PMID:28163942 PMID:28174639 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28242630 PMID:28261631 PMID:28325531 PMID:28332257 PMID:28340353 PMID:28348582 PMID:28366727 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28422754 PMID:28440306 PMID:28448979 PMID:28456595 PMID:28465863 PMID:28469871 PMID:28471435 PMID:28475858 PMID:28492530 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28575328 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28617084 PMID:28646244 PMID:28651844 PMID:28655774 PMID:28687971 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28784578 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28805948 PMID:28811149 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28944235 PMID:28947035 PMID:28957316 PMID:28968805 PMID:28978796 PMID:28992757 PMID:29035608 PMID:29040544 PMID:29055982 PMID:29095814 PMID:29099333 PMID:29099344 PMID:29113966 PMID:29124052 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29202459 PMID:29208182 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29279204 PMID:29292091 PMID:29298718 PMID:29307731 PMID:29327948 PMID:29333815 PMID:29351449 PMID:29360847 PMID:29371133 PMID:29431110 PMID:29451946 PMID:29475947 PMID:29484681 PMID:29497617 PMID:29503250 PMID:29504914 PMID:29520692 PMID:29569753 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29669919 PMID:29685811 PMID:29727070 PMID:29750258 PMID:29754320 PMID:29779145 PMID:29782810 PMID:29805046 PMID:29807875 PMID:29812963 PMID:29850441 PMID:29859674 PMID:29879995 PMID:29884450 PMID:29886024 PMID:29924856 PMID:29936070 PMID:29944384 PMID:29951967 PMID:29970830 PMID:29983195 PMID:29995784 PMID:29997923 PMID:30019023 PMID:30030066 PMID:30032850 PMID:30046002 PMID:30060175 PMID:30081288 PMID:30089726 PMID:30091983 PMID:30134826 PMID:30144894 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30233781 PMID:30244528 PMID:30279124 PMID:30293248 PMID:30296588 PMID:30297908 PMID:30348612 PMID:30366773 PMID:30374031 PMID:30379828 PMID:30389600 PMID:30389601 PMID:30419605 PMID:30420730 PMID:30444886 PMID:30450785 PMID:30459277 PMID:30487145 PMID:30488522 PMID:30509709 PMID:30540547 PMID:30548586 PMID:30558651 PMID:30561903 PMID:30577776 PMID:30588852 PMID:30592194 PMID:30595473 PMID:30600261 PMID:30600599 PMID:30602999 PMID:30606298 PMID:30609409 PMID:30617673 PMID:30661751 PMID:30698611 PMID:30711384 PMID:30726326 PMID:30758641 PMID:30760291 PMID:30763667 PMID:30805499 PMID:30811104 PMID:30842938 PMID:30845638 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30979466 PMID:30979683 PMID:30992994 PMID:30993151 PMID:30996306 PMID:31005549 PMID:31016917 PMID:31019283 PMID:31028937 PMID:31029283 PMID:31036917 PMID:31088717 PMID:31118044 PMID:31126253 PMID:31127727 PMID:31130284 PMID:31131953 PMID:31136843 PMID:31159747 PMID:31180159 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31251792 PMID:31268981 PMID:31310009 PMID:31311920 PMID:31328366 PMID:31331863 PMID:31344706 PMID:31350925 PMID:31357024 PMID:31377750 PMID:31378749 PMID:31406621 PMID:31420175 PMID:31423445 PMID:31447099 PMID:31450232 PMID:31488014 PMID:31508243 PMID:31523618 PMID:31561038 PMID:31589614 PMID:31655510 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31697873 PMID:31709488 PMID:31740593 PMID:31759907 PMID:31776420 PMID:31785789 PMID:31788264 PMID:31788424 PMID:31808782 PMID:31844968 PMID:31845523 PMID:31848897 PMID:31872980 PMID:31882543 PMID:31883651 PMID:31893350 PMID:31900120 PMID:31902693 PMID:31916691 PMID:31940241 PMID:31976142 PMID:31978131 PMID:31980526 PMID:31990467 PMID:31992191 PMID:32003094 PMID:32003480 PMID:32017858 PMID:32020786 PMID:32025909 PMID:32026723 PMID:32084388 PMID:32103733 PMID:32113160 PMID:32126153 PMID:32143663 PMID:32150665 PMID:32155011 PMID:32172930 PMID:32185651 PMID:32204475 PMID:32220772 PMID:32227567 PMID:32244302 PMID:32256364 PMID:32265312 PMID:32281737 PMID:32292813 PMID:32352720 PMID:32357917 PMID:32387800 PMID:32414100 PMID:32429104 PMID:32442342 PMID:32447501 PMID:32483343 PMID:32484936 PMID:32508047 PMID:32512765 PMID:32539862 PMID:32563932 PMID:32596391 PMID:32630227 PMID:32633402 PMID:32662942 PMID:32674983 PMID:32687833 PMID:32719396 PMID:32730979 PMID:32734384 PMID:32747394 PMID:32757986 PMID:32761997 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32848127 PMID:32906206 PMID:32926152 PMID:32934006 PMID:32935393 PMID:32992607 PMID:33020115 PMID:33083013 PMID:33085659 PMID:33093640 PMID:33097431 PMID:33118704 PMID:33138251 PMID:33138774 PMID:33144682 PMID:33160331 PMID:33195651 PMID:33260873 PMID:33270637 PMID:33278322 PMID:33296276 PMID:33322690 PMID:33341408 PMID:33348555 PMID:33365035 PMID:33374015 PMID:33375403 PMID:33393655 PMID:33402933 PMID:33424627 PMID:33432171 PMID:33468668 PMID:33470563 PMID:33495079 PMID:33502066 PMID:33504063 PMID:33512069 PMID:33567498 PMID:33572515 PMID:33574797 PMID:33577586 PMID:33613790 PMID:33663443 PMID:33686728 PMID:33713579 PMID:33747920 PMID:33768849 PMID:33771570 PMID:33781744 PMID:33807078 PMID:33836782 PMID:33855558 PMID:33883100 PMID:33919435 PMID:33922413 PMID:33937153 PMID:33946859 PMID:33949881 PMID:33972190 PMID:34057205 PMID:34071719 PMID:34086412 PMID:34086689 PMID:34099697 PMID:34134972 PMID:34140271 PMID:34145097 PMID:34163370 PMID:34190021 PMID:34196078 PMID:34276759 PMID:34315429 PMID:34341587 PMID:34350279 PMID:34377682 PMID:34405919 PMID:34415821 PMID:34426522 PMID:34442373 PMID:34525262 PMID:34557648 PMID:34583889 PMID:34600583 PMID:34673937 PMID:34680554 PMID:34714360 PMID:34740355 PMID:34755701 PMID:34764021 PMID:34765005 PMID:34782259 PMID:34814176 PMID:34842364 PMID:34842611 PMID:34857524 PMID:34860163 PMID:34888852 PMID:34906502 PMID:34931337 PMID:34949556 PMID:34949574 PMID:34952832 PMID:34957709 PMID:34964109 PMID:34973142 PMID:34974990 PMID:34995514 PMID:34996830 PMID:34998674 PMID:35006361 PMID:35008443 PMID:35011616 PMID:35065958 PMID:35096544 PMID:35109852 PMID:35119551 PMID:35171259 PMID:35273129 PMID:35313924 PMID:35328596 PMID:35365085 PMID:35387941 PMID:35418593 PMID:35451201 PMID:35527187 PMID:35585144 PMID:35623009 PMID:35626323 PMID:35650428 PMID:35652053 PMID:35690514 PMID:35697137 PMID:35698092 PMID:35753512 PMID:35816621 PMID:35857025 PMID:35858753 PMID:35894192 PMID:35913788 PMID:35934641 PMID:35997436 PMID:36142302 PMID:36174992 PMID:36207272 PMID:36249513 PMID:36259570 PMID:36264955 PMID:36272381 PMID:36286063 PMID:36293274 PMID:36319933 PMID:36335097 PMID:36409994 PMID:36428953 PMID:36437230 PMID:36437957 PMID:36458240 PMID:36552859 PMID:36555865 PMID:36567205 PMID:36604502 PMID:36631132 PMID:36650664 PMID:36670555 PMID:36717774 PMID:36751320 PMID:36828084 PMID:36834620 PMID:36969284 PMID:36982273 PMID:37327085 PMID:37431359 PMID:63921865 PMID:238191399 PMID:11504703 PMID:31942562 PMID:24608905 PMID:11823443 PMID:1380723 PMID:2344617 PMID:19880712 PMID:7560099 PMID:1283149 PMID:17099022 PMID:9254853 PMID:19202204 PMID:11732487 PMID:1380943 PMID:19620404 PMID:9429141 PMID:9439669 PMID:1284535 PMID:1379413 PMID:17902144 PMID:1370365 More...
RGD:4140481 , RGD:126928119 , RGD:11566051 , RGD:734772 , RGD:4139910 , RGD:4140394 , RGD:4140393 , RGD:4140428 , RGD:4140439 , RGD:4140392 , RGD:4140401 , RGD:4140429 , RGD:4140450 , RGD:4140440 , RGD:4140422 , RGD:4140465 , RGD:4140464 , RGD:4140438 , RGD:4140442 , RGD:4140435 , RGD:4140436
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
G
Clca1
chloride channel accessory 1
ISO
mRNA, protein:increased expression:respiratory system mucosa
RGD
PMID:15218996
RGD:4145657
NCBI chr 3:144,710,298...144,738,537
Ensembl chr 3:144,709,578...144,738,537
G
Clcn2
chloride channel, voltage-sensitive 2
ISO
RGD
PMID:8811102
RGD:704390
NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
G
Cpa1
carboxypeptidase A1, pancreatic
ISO
ClinVar Annotator: match by term: Mucoviscidosis
ClinVar
PMID:23955596 PMID:25741868 PMID:28492532
NCBI chr 6:30,639,217...30,645,360
Ensembl chr 6:30,639,217...30,645,362
G
Csf3r
colony stimulating factor 3 receptor
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19293384
RGD:5133738
NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO IEP
protein:increased expression:sputum protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20818377 PMID:20818377
RGD:5135034 , RGD:5135034
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
G
Cxcl15
C-X-C motif chemokine ligand 15
ISO
protein:increased expression:sputum
RGD
PMID:20818377
RGD:5135034
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO IEP
protein:increased expression:sputum protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20818377 PMID:20818377
RGD:5135034 , RGD:5135034
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
RGD
PMID:19597126
RGD:5135456
NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:19597126
RGD:5135456
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
G
Cxcr2
C-X-C motif chemokine receptor 2
IMP
RGD
PMID:20818377
RGD:5135034
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
severity
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
G
Dctn4
dynactin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772370
NCBI chr18:60,659,226...60,691,838
Ensembl chr18:60,659,257...60,691,838
G
Defb4
defensin beta 4
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9843998
RGD:4892267
NCBI chr 8:19,248,720...19,251,563
Ensembl chr 8:19,248,722...19,251,561
G
Edn1
endothelin 1
ISO
protein:increased expression:sputum (human)
RGD
PMID:10445603
RGD:4145062
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
G
Eng
endoglin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30806029
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
G
Ephx1
epoxide hydrolase 1, microsomal
ISO
ClinVar Annotator: match by term: Mucoviscidosis
ClinVar
PMID:7516776 PMID:9288046 PMID:12704386 PMID:17532303 PMID:19017876 PMID:23426996 More...
NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469
G
Fas
Fas cell surface death receptor
severity
ISO
RGD
PMID:18685642
RGD:12903971
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Fasl
Fas ligand
ISO
RGD
PMID:10567629
RGD:12904024
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Gclc
glutamate-cysteine ligase, catalytic subunit
ISO
RGD
PMID:16690975
RGD:5134682
NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767
G
Gstm1
glutathione S-transferase, mu 1
no_association severity
ISO
DNA:deletion:: (human) DNA:deletion: : (human) DNA:deletion, haplotype:: (human)
RGD
PMID:24593045 PMID:22407040 PMID:10195071 PMID:20140303 PMID:23758905
RGD:10401929 , RGD:14700942 , RGD:12798506 , RGD:12792246 , RGD:12792207
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstm3
glutathione S-transferase, mu 3
ISO
RGD
PMID:15115915
RGD:5135040
NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599
G
Gstm5
glutathione S-transferase, mu 5
ISO
RGD
PMID:15115915
RGD:5135040
NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002
G
Gstp1
glutathione S-transferase, pi 1
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
G
Gstt1
glutathione S-transferase, theta 1
severity no_association
ISO
DNA:deletion, haplotype:: (human) DNA:deletion: : (human) DNA:deletion:: (human)
RGD
PMID:23758905 PMID:22407040 PMID:20140303 PMID:24593045
RGD:12792207 , RGD:14700942 , RGD:12792246 , RGD:10401929
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
H2-M3
histocompatibility 2, M region locus 3
ISO
mRNA:decreased expression::decreased clearance of pathogens?
RGD
PMID:20044437
RGD:5144066
NCBI chr17:37,581,094...37,585,380
Ensembl chr17:37,581,111...37,585,375
G
Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21263071
RGD:5135530
NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
G
Hc
hemolytic complement
severity
ISO
RGD
PMID:3540828
RGD:5130162
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
G
Hfe
homeostatic iron regulator
severity
ISO
DNA:missense mutations: :p.H63D, p.C282Y (human) ClinVar Annotator: match by term: Cystic fibrosis
ClinVar RGD
PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526 PMID:30291871 More...
RGD:14701045
NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
G
Hmox1
heme oxygenase 1
ISO
mRNA:protein:increased expression:lung
RGD
PMID:15184199
RGD:4145410
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Hspa1a
heat shock protein 1A
severity
ISO
DNA:polymorphism, haplotype: :1267A>G (human)
RGD
PMID:21993476 PMID:21993476
RGD:6767553 , RGD:6767553
NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132
G
Hspd1
heat shock protein 1 (chaperonin)
ISO
protein:increased expression:serum:
RGD
PMID:8255671
RGD:12910480
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
G
Igf1
insulin-like growth factor 1
ISO
protein:increased expression:respiratory tract epithelium (rat)
RGD
PMID:22461702
RGD:12904899
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum:
RGD
PMID:15310308
RGD:12743589
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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Il13
interleukin 13
ISO
mRNA:increased expression:bronchoalveolar lavage fluid
RGD
PMID:15463872
RGD:4312589
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il17a
interleukin 17A
ISO
protein:increased expression:serum protein:increased expression:lung
RGD
PMID:19342416 PMID:21109552
RGD:4889105 , RGD:4889130
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il18bp
interleukin 18 binding protein
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897
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Il1a
interleukin 1 alpha
severity
ISO
protein:increased expression:serum
RGD
PMID:8333775
RGD:4142849
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
severity
ISO
DNA:SNPs: :rs1143634, rs1143639 (human) protein:increased expression:sputum
RGD
PMID:19431193 PMID:10515411
RGD:4142844 , RGD:4143181
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:blood, neutrophil protein:increased expression:sputum
RGD
PMID:12547728 PMID:10515411
RGD:4143175 , RGD:4143181
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il6
interleukin 6
ISO
protein:increased expression:blood protein:increased expression:lung
RGD
PMID:16403491 PMID:20438838
RGD:5128672 , RGD:4143275
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il9
interleukin 9
ISO
protein:increased expression:respiratory system mucosa
RGD
PMID:12782818
RGD:5128699
NCBI chr13:56,627,090...56,630,070
Ensembl chr13:56,627,090...56,630,059
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Il9r
interleukin 9 receptor
ISO
protein:increased expression:respiratory system mucosa
RGD
PMID:12782818
RGD:5128699
NCBI chr11:32,137,544...32,155,283
Ensembl chr11:32,137,541...32,150,279
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Irf1
interferon regulatory factor 1
IEP
protein:decreased expression:intestine epithelium, nasal cavity epithelium
RGD
PMID:10930443
RGD:5128720
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Lep
leptin
severity
ISO
RGD
PMID:18353734
RGD:5128819
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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LOC111674480
Cftr promoter region
ISO
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar
PMID:1710599 PMID:7540587 PMID:8659542 PMID:8956039 PMID:10200050 PMID:10204861 PMID:11168023 PMID:11523757 PMID:11788090 PMID:12843327 PMID:12939925 PMID:15025720 PMID:15507674 PMID:17331079 PMID:17678620 PMID:18703788 PMID:18832460 PMID:20972246 PMID:21837768 PMID:21948798 PMID:22137130 PMID:22504961 PMID:23470247 PMID:23810505 PMID:23974870 PMID:24033266 PMID:25266997 PMID:25739099 PMID:25741868 PMID:25797027 PMID:25900089 PMID:26436105 PMID:26467025 PMID:26574590 PMID:26656651 PMID:26814065 PMID:26847993 PMID:28492532 PMID:28603918 PMID:30296588 PMID:30811104 PMID:31357024 PMID:31665830 PMID:32483343 PMID:32777524 More...
NCBI chr 6:18,169,701...18,171,127
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Lta
lymphotoxin A
severity
ISO
DNA:polymorphism, haplotype: :252A>G (human)
RGD
PMID:21993476
RGD:6767553
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mbl2
mannose-binding lectin (protein C) 2
severity
ISO
protein:decreased secretion:serum (human) ClinVar Annotator: match by term: Cystic fibrosis DNA:polymorphisms:5' utr, exon:multiple (human)
ClinVar RGD
PMID:7707811 PMID:8206524 PMID:10071515 PMID:10449435 PMID:15674393 PMID:16912583 PMID:18292811 PMID:20068595 PMID:22323042 PMID:22377282 PMID:22940091 PMID:24753481 PMID:25178872 PMID:28492532 PMID:16879250 PMID:10449435 More...
RGD:4889443 , RGD:4889447
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
severity
ISO
DNA:repeats:promoter
RGD
PMID:16179637
RGD:4891053
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:27689251
RGD:25671378
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:bronchoalveolar lavage fluid protein:increased expression:serum
RGD
PMID:17526676 PMID:25545245
RGD:5130723 , RGD:13204794
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mpo
myeloperoxidase
severity
ISO
DNA:polymorphism:promoter:-463G>A (human)
RGD
PMID:20954832 PMID:16883063
RGD:5130986 , RGD:5130968
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Muc1
mucin 1, transmembrane
ISO
protein:increased expression:serum (human)
RGD
PMID:19960788
RGD:5131272
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Muc2
mucin 2
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:9155717
RGD:5131426
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
RGD
PMID:17255563
RGD:5131191
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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Muc5b
mucin 5, subtype B, tracheobronchial
ISO
protein:altered glycosylation:saliva
RGD
PMID:17255563 PMID:11845304
RGD:5131191 , RGD:5131194
NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821
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Muc6
mucin 6, gastric
IGI
RGD
PMID:20309575
RGD:7364748
NCBI chr 7:141,212,404...141,241,659
Ensembl chr 7:141,213,373...141,241,641
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Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
IEP
protein:increased oxidation:colonic epithelium, mitochondrion (mouse)
RGD
PMID:21518732
RGD:6484688
NCBI chr 1:63,182,751...63,215,981
Ensembl chr 1:63,182,755...63,215,992
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Nos1
nitric oxide synthase 1, neuronal
disease_progression
ISO
DNA:repeats:5'utr mRNA:decreased expression:lung
RGD
PMID:11890749 PMID:14760158 PMID:12064512
RGD:5132868 , RGD:5132627 , RGD:5132865
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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Nos2
nitric oxide synthase 2, inducible
ISO
mRNA,protein:decreased expression:respiratory mucosa
RGD
PMID:16517573
RGD:4891958
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
DNA:polymorphism:exon: c. 894G>T (human)
RGD
PMID:12406848
RGD:4892049
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar
PMID:25741868
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar
PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099
NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272
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Ppara
peroxisome proliferator activated receptor alpha
ISO
mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes (human)
RGD
PMID:16875506
RGD:5683626
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Prss1
serine protease 1 (trypsin 1)
ISO
protein:increased expression:plasma
RGD
PMID:8625754
RGD:1599967
NCBI chr 6:41,435,864...41,440,720
Ensembl chr 6:41,435,866...41,440,720
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Ptgdr2
prostaglandin D2 receptor 2
ISO
RGD
PMID:18334635
RGD:5135022
NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
DNA:SNPs: :-765G>C and 8473T>C (human) protein:increased expression:nasal mucosa
RGD
PMID:20720307 PMID:18711055
RGD:5135298 , RGD:5135523
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptx3
pentraxin related gene
susceptibility
ISO
DNA:SNP:exon:rs35948036(human)
RGD
PMID:20927127
RGD:35673347
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Scnn1a
sodium channel, nonvoltage-gated 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15077107 PMID:19462466
NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906
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Scnn1b
sodium channel, nonvoltage-gated 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16207733 PMID:16463024
NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737
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Scnn1g
sodium channel, nonvoltage-gated 1 gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16463024
NCBI chr 7:121,333,643...121,367,705
Ensembl chr 7:121,333,702...121,367,698
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Serpina3b
serine (or cysteine) peptidase inhibitor, clade A, member 3B
severity
ISO
RGD
PMID:11120905
RGD:5147439
NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
severity
ISO
RGD
PMID:11120905
RGD:5147439
NCBI chr12:104,372,967...104,380,588
Ensembl chr12:104,372,988...104,380,588
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Sftpa1
surfactant associated protein A1
ISO
protein:decreased expression:lung
RGD
PMID:15271694
RGD:4143403
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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Sftpb
surfactant associated protein B
ISO
mRNA:increased expression:respiratory system mucosa
RGD
PMID:17507829
RGD:4143381
NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354
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Sftpc
surfactant associated protein C
ISO
protein:increased expression:lung
RGD
PMID:15271694
RGD:4143403
NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
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Sftpd
surfactant associated protein D
ISO
protein:decreased expression, altered degradation:lung
RGD
PMID:18211966
RGD:4143502
NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
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Slc26a9
solute carrier family 26, member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22466613
NCBI chr 1:131,671,760...131,699,242
Ensembl chr 1:131,671,760...131,699,242
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Slc6a14
solute carrier family 6 (neurotransmitter transporter), member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22466613
NCBI chr X:21,581,139...21,608,597
Ensembl chr X:21,581,135...21,608,594
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Slc9a3
solute carrier family 9 (sodium/hydrogen exchanger), member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22466613
NCBI chr13:74,234,374...74,317,561
Ensembl chr13:74,269,576...74,317,561
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Tgfb1
transforming growth factor, beta 1
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystic fibrosis
CTD ClinVar OMIM RGD
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 PMID:28492532 PMID:19830844 More...
RGD:4145125
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Timp1
tissue inhibitor of metalloproteinase 1
ISO
protein:increased expression:serum
RGD
PMID:25545245
RGD:13204794
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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Tlr4
toll-like receptor 4
severity
ISO IMP
protein:increased expression:monocyte
RGD
PMID:20717938 PMID:20522639
RGD:4144105 , RGD:4144179
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr5
toll-like receptor 5
resistance
ISO
protein:increased expression:lung, sputum, neutrophil (human) DNA:snp:cds:c.1174C>T rs5744168 (human)
RGD
PMID:18684966 PMID:21068401
RGD:5129506 , RGD:5129499
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tlr9
toll-like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:20837493
RGD:5130208
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
severity
ISO
protein:increased expression:sputum DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human)
RGD
PMID:7537567 PMID:21993476
RGD:4142846 , RGD:6767553
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16463024
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Try10
trypsin 10
ISO
protein:increased expression:plasma
RGD
PMID:8625754
RGD:1599967
NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
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Men1
multiple endocrine neoplasia 1
ISO
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :
RGD
PMID:17135306
RGD:2317341
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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Cela3b
chymotrypsin-like elastase family, member 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14687815
NCBI chr 4:137,148,319...137,157,831
Ensembl chr 4:137,148,310...137,157,851
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Cftr
cystic fibrosis transmembrane conductance regulator
onset
ISO
associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) DNA:insertion:exon:c.3904_3905insT (human)
RGD
PMID:8535440 PMID:9254853
RGD:4140448 , RGD:4140401
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29384525
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Cox4i2
cytochrome c oxidase subunit 4I2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM CTD ClinVar RGD
PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275
RGD:11344905
NCBI chr 2:152,596,093...152,606,957
Ensembl chr 2:152,596,093...152,606,957
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Elane
elastase, neutrophil expressed
treatment
ISO
RGD
PMID:18486906
RGD:10450567
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Fgf21
fibroblast growth factor 21
treatment
IEP ISO IMP
RGD
PMID:19664632 PMID:19664632 PMID:19664632
RGD:10401870 , RGD:10401870 , RGD:10401870
NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914
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Ikbkg
inhibitor of kappaB kinase gamma
treatment
ISO
RGD
PMID:19195057
RGD:12791282
NCBI chr X:73,436,883...73,498,013
Ensembl chr X:73,436,896...73,497,460
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Reg3b
regenerating islet-derived 3 beta
ISO
protein:increased expression:pancreatic juice (rat)
RGD
PMID:7809015
RGD:9999210
NCBI chr 6:78,347,868...78,350,449
Ensembl chr 6:78,347,640...78,350,449
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Tbxa2r
thromboxane A2 receptor
treatment
ISO
RGD
PMID:11341608
RGD:11059600
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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Abcc8
ATP-binding cassette, sub-family C member 8
ISO
ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
OMIM ClinVar
PMID:1021286 PMID:2198959 PMID:3202066 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10828824 PMID:10857971 PMID:10923633 PMID:10993895 PMID:11018078 PMID:11226335 PMID:11272143 PMID:11395395 PMID:11457841 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12166651 PMID:12169627 PMID:12199344 PMID:12364426 PMID:12559865 PMID:12627323 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15371948 PMID:15466080 PMID:15561897 PMID:15562009 PMID:15579781 PMID:15580558 PMID:15718250 PMID:15807877 PMID:15842514 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17378627 PMID:17384337 PMID:17446535 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17597441 PMID:17668386 PMID:17823772 PMID:17919176 PMID:17990484 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18390792 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19475716 PMID:19766903 PMID:19933268 PMID:20042013 PMID:20215776 PMID:20427569 PMID:20432820 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21142918 PMID:21199866 PMID:21214702 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21617188 PMID:21674179 PMID:21716120 PMID:21814221 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:21992908 PMID:22151254 PMID:22210575 PMID:22308858 PMID:22311976 PMID:22533711 PMID:22562119 PMID:22662265 PMID:22704848 PMID:22796691 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22876564 PMID:22902787 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23771920 PMID:23798684 PMID:23903354 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24080777 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24411943 PMID:24434300 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25871929 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26162674 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26545620 PMID:26545876 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27334808 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27681997 PMID:27682711 PMID:27691052 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28018462 PMID:28095440 PMID:28270372 PMID:28346775 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28587604 PMID:28663158 PMID:28667717 PMID:28757749 PMID:28791793 PMID:29082728 PMID:29127764 PMID:29207974 PMID:29216354 PMID:29644095 PMID:29675256 PMID:29751826 PMID:30098243 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30276209 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30977832 PMID:31002010 PMID:31110826 PMID:31208162 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31595705 PMID:31604004 PMID:31727138 PMID:31821855 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32763092 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33046911 PMID:33240318 PMID:33300273 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33587123 PMID:33728157 PMID:34015902 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34304300 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34631896 PMID:34764980 PMID:34777243 PMID:34927408 PMID:34992182 PMID:35402560 PMID:36339418 PMID:36407475 PMID:36699461 More...
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
G
Hadh
hydroxyacyl-Coenzyme A dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194
NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750
G
Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 More...
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
G
Abcc8
ATP-binding cassette, sub-family C member 8
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2
ClinVar
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 PMID:29893194 PMID:32935446 More...
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
G
Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2
ClinVar OMIM
PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 PMID:10338089 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15504982 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15855351 PMID:15886397 PMID:15998776 PMID:16357843 PMID:16416420 PMID:16455067 PMID:16670688 PMID:17114887 PMID:17257281 PMID:17316607 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:17956278 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18596924 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20032456 PMID:20049716 PMID:20301620 PMID:20424228 PMID:20589481 PMID:20685672 PMID:20686794 PMID:20694718 PMID:20980454 PMID:21115269 PMID:21119644 PMID:21422196 PMID:21544516 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23700433 PMID:24018988 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24686051 PMID:24698822 PMID:25247988 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25741913 PMID:25741914 PMID:25871929 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:26740944 PMID:27118464 PMID:27188453 PMID:27908292 PMID:28123437 PMID:28352326 PMID:28442472 PMID:28492532 PMID:28938416 PMID:29216354 PMID:29893194 PMID:30026763 PMID:30297969 PMID:30377186 PMID:30873120 PMID:31291970 PMID:31464105 PMID:32027066 PMID:32935446 PMID:33324081 PMID:33762279 PMID:33853507 PMID:34737607 PMID:35402560 More...
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
G
Gck
glucokinase
ISO IAGP
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency CTD Direct Evidence: marker/mechanism OMIM:602485
OMIM ClinVar CTD MouseDO
PMID:1502186 PMID:2555564 PMID:7553875 PMID:7555485 PMID:8068341 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8495817 PMID:9049484 PMID:9435328 PMID:9469993 PMID:9536098 PMID:9867845 PMID:10447526 PMID:10455021 PMID:10525657 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11916951 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:14687251 PMID:15277402 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:15987895 PMID:16963153 PMID:16965331 PMID:17082186 PMID:17353190 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18271687 PMID:19146401 PMID:19790256 PMID:20132997 PMID:20301620 PMID:20375417 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:22194744 PMID:22335469 PMID:22493702 PMID:22611063 PMID:23771925 PMID:24097065 PMID:24323243 PMID:24518839 PMID:24578721 PMID:24728127 PMID:24735133 PMID:25015100 PMID:25741868 PMID:25850297 PMID:26467025 PMID:27269892 PMID:27913849 PMID:28492532 PMID:29056535 PMID:29510678 PMID:30257192 PMID:31094068 PMID:31197960 PMID:31291970 PMID:31638168 PMID:31957151 PMID:32375122 PMID:32533152 PMID:32792356 PMID:33072637 PMID:33129248 PMID:33852230 PMID:34686905 PMID:34746319 PMID:35472491 PMID:36257325 PMID:37008541 More...
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
G
Hadh
hydroxyacyl-Coenzyme A dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
OMIM ClinVar CTD
PMID:904979 PMID:8825408 PMID:11489939 PMID:14693719 PMID:16725361 PMID:18414213 PMID:19318379 PMID:19417036 PMID:21252247 PMID:21347589 PMID:22579592 PMID:22662265 PMID:23273570 PMID:23275527 PMID:24686051 PMID:25741868 PMID:27104957 PMID:27771675 PMID:28492532 PMID:29280746 PMID:32876354 PMID:34055426 PMID:34547194 More...
NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
ClinVar
PMID:2002058 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 PMID:8288049 PMID:15161766 PMID:19135752 PMID:23705494 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2002058 PMID:2170418 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 PMID:8288049 PMID:15161766 PMID:19135752 PMID:23705494 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
G
Glud1
glutamate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 PMID:10636977 PMID:10871207 PMID:11214910 PMID:17576681 PMID:18414213 PMID:18928469 PMID:19046187 PMID:19344873 PMID:19690084 PMID:22730017 PMID:23506826 PMID:23869231 PMID:25008049 PMID:25741868 PMID:26467025 PMID:26759084 PMID:26839063 PMID:27188453 PMID:28165182 PMID:28492532 PMID:30252420 PMID:30306091 PMID:30352420 PMID:30425915 PMID:31119523 PMID:34992182 PMID:35951311 PMID:36239000 More...
NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
G
Shld2
shieldin complex subunit 2
ISO
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:33,958,905...34,032,528
Ensembl chr14:33,958,990...34,032,450
G
Slc16a1
solute carrier family 16 (monocarboxylic acid transporters), member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7
OMIM CTD ClinVar
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 PMID:25741868 PMID:25741869 PMID:26595136 PMID:28492532 More...
NCBI chr 3:104,545,980...104,565,778
Ensembl chr 3:104,545,984...104,565,778
G
Slc25a36
solute carrier family 25, member 36
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8
OMIM ClinVar
PMID:34576089 PMID:34971397 PMID:36695547
NCBI chr 9:96,957,014...96,993,094
Ensembl chr 9:96,957,014...96,993,210
G
4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Familial pancreatic carcinoma
ClinVar
PMID:28492532
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
G
Apoa4
apolipoprotein A-IV
ISO
mRNA:increased expression:pancreas, carcinoma (human)
RGD
PMID:16815451
RGD:5685662
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
G
Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Familial pancreatic carcinoma
ClinVar
PMID:8755918 PMID:9443866 PMID:9463314 PMID:9887333 PMID:10330348 PMID:10864201 PMID:11606401 PMID:12362033 PMID:12552559 PMID:12815592 PMID:15039971 PMID:15843990 PMID:16832357 PMID:17124347 PMID:18384426 PMID:19691550 PMID:19781682 PMID:20301790 PMID:21445571 PMID:21665257 PMID:21787400 PMID:21792198 PMID:21965147 PMID:22146522 PMID:22585167 PMID:22649200 PMID:23585524 PMID:23807571 PMID:24416720 PMID:25077176 PMID:25614872 PMID:25741868 PMID:25980754 PMID:26023681 PMID:26182300 PMID:26467025 PMID:26667234 PMID:26681312 PMID:26689913 PMID:26896183 PMID:26976419 PMID:27034805 PMID:27433846 PMID:27484032 PMID:27664052 PMID:27884168 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:29478780 PMID:29625052 PMID:29641532 PMID:29915322 PMID:29922827 PMID:29961768 PMID:30303537 PMID:30306255 PMID:30549301 PMID:30772474 PMID:31589614 PMID:31882575 PMID:32338768 PMID:32566746 PMID:32853339 PMID:32885271 PMID:33280026 PMID:33436325 PMID:33471991 PMID:34337741 PMID:35078243 More...
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
G
Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Familial pancreatic carcinoma
ClinVar
PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26787654 PMID:28135145 PMID:28492532 PMID:30925164 PMID:31371347 PMID:32068069 PMID:33471991 More...
NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305
G
Igf1r
insulin-like growth factor I receptor
ISO
mRNA and protein: increased expression::poor prognosis for high expression
RGD
PMID:15867218
RGD:7242847
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
G
Men1
multiple endocrine neoplasia 1
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17961653 PMID:15944766
RGD:2317354
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Met
met proto-oncogene
severity
ISO
associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human)
RGD
PMID:12114431
RGD:2317605
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypomethylation:promoter (human)
RGD
PMID:17278096
RGD:2317340
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
G
Slc2a2
solute carrier family 2 (facilitated glucose transporter), member 2
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:8421107 PMID:12114701
RGD:2324977 , RGD:2324976
NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
G
Atm
ataxia telangiectasia mutated
disease_progression
ISO
associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human)
RGD
PMID:22485171
RGD:150340716
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
G
Atrx
ATRX, chromatin remodeler
severity
ISO
RGD
PMID:26026117
RGD:127285385
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
G
Cd53
CD53 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 3:106,666,177...106,697,465
Ensembl chr 3:106,667,237...106,697,465
G
Cd86
CD86 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
G
Ciita
class II transactivator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
G
Cxcr4
C-X-C motif chemokine receptor 4
severity
ISO
protein:increased expression:colon (human)
RGD
PMID:26259237
RGD:11530617
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
G
Daxx
Fas death domain-associated protein
severity
ISO
RGD
PMID:26026117
RGD:127285385
NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
G
Eomes
eomesodermin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 9:118,307,259...118,315,176
Ensembl chr 9:118,307,280...118,315,200
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
G
Gfi1
growth factor independent 1 transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926
G
Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr11:98,355,436...98,437,157
Ensembl chr11:98,355,728...98,436,857
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il2rb
interleukin 2 receptor, beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
G
Notch2
notch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
G
Pou2f2
POU domain, class 2, transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151
G
Ptprc
protein tyrosine phosphatase receptor type C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446
G
Runx3
runt related transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
G
Btc
betacellulin, epidermal growth factor family member
ISO
protein:increased expression:pancreas
RGD
PMID:10724350
RGD:2326087
NCBI chr 5:91,505,120...91,550,853
Ensembl chr 5:91,505,120...91,550,853
G
Men1
multiple endocrine neoplasia 1
IMP ISO
DNA:deletion:exon CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17961653 PMID:20138042
RGD:2317288
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Slc2a2
solute carrier family 2 (facilitated glucose transporter), member 2
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
G
Sstr4
somatostatin receptor 4
ISO
RGD
PMID:8132773
RGD:2324994
NCBI chr 2:148,237,297...148,238,684
Ensembl chr 2:148,237,264...148,238,687
G
Agmat
agmatinase
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,473,986...141,486,574
Ensembl chr 4:141,473,983...141,486,574
G
Casp9
caspase 9
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
G
Cela2a
chymotrypsin-like elastase family, member 2A
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
G
Cftr
cystic fibrosis transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:754013 PMID:1282016 PMID:1283148 PMID:1284477 PMID:1284530 PMID:1284534 PMID:1284535 PMID:1284538 PMID:1284540 PMID:1284639 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1373935 PMID:1376016 PMID:1376017 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384326 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1712898 PMID:1715308 PMID:1716180 PMID:1721624 PMID:1722350 PMID:1723032 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1903761 PMID:1937486 PMID:1944451 PMID:1977306 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2395135 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:5371902 PMID:6840743 PMID:7472820 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7505693 PMID:7506096 PMID:7506605 PMID:7508183 PMID:7508414 PMID:7509310 PMID:7512860 PMID:7513889 PMID:7515303 PMID:7517267 PMID:7517268 PMID:7518829 PMID:7520798 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7529319 PMID:7529962 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7538127 PMID:7539080 PMID:7539210 PMID:7540133 PMID:7541274 PMID:7541510 PMID:7542347 PMID:7542778 PMID:7543317 PMID:7544319 PMID:7544788 PMID:7545856 PMID:7545869 PMID:7550243 PMID:7551394 PMID:7560099 PMID:7573058 PMID:7581407 PMID:7599637 PMID:7606851 PMID:7668304 PMID:7679367 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7681035 PMID:7682196 PMID:7682884 PMID:7683628 PMID:7683952 PMID:7684641 PMID:7684646 PMID:7686336 PMID:7686577 PMID:7686820 PMID:7687986 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7739684 PMID:7789957 PMID:7868128 PMID:8092189 PMID:8100293 PMID:8343799 PMID:8421472 PMID:8477260 PMID:8522333 PMID:8528204 PMID:8533846 PMID:8535440 PMID:8556303 PMID:8605891 PMID:8627844 PMID:8659542 PMID:8662892 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8740923 PMID:8741733 PMID:8825494 PMID:8825927 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8880589 PMID:8886242 PMID:8889582 PMID:8947061 PMID:8956039 PMID:9003498 PMID:9003508 PMID:9039981 PMID:9043501 PMID:9056552 PMID:9067754 PMID:9067761 PMID:9099843 PMID:9101293 PMID:9108869 PMID:9135274 PMID:9150159 PMID:9163660 PMID:9164051 PMID:9235853 PMID:9239681 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9321772 PMID:9374552 PMID:9375855 PMID:9379898 PMID:9383031 PMID:9401006 PMID:9435322 PMID:9439669 PMID:9452048 PMID:9459003 PMID:9475107 PMID:9482579 PMID:9493456 PMID:9507391 PMID:9521595 PMID:9536098 PMID:9550361 PMID:9557894 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9683582 PMID:9719631 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9797105 PMID:9799593 PMID:9806422 PMID:9881185 PMID:9915972 PMID:9917439 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10026154 PMID:10077727 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10341008 PMID:10351951 PMID:10362539 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10425036 PMID:10439967 PMID:10445602 PMID:10447267 PMID:10480369 PMID:10556281 PMID:10571949 PMID:10571955 PMID:10601093 PMID:10605524 PMID:10636451 PMID:10639207 PMID:10652351 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10719683 PMID:10746558 PMID:10762539 PMID:10764788 PMID:10782933 PMID:10790222 PMID:10794365 PMID:10798368 PMID:10801389 PMID:10812063 PMID:10819640 PMID:10834512 PMID:10836331 PMID:10869121 PMID:10875853 PMID:10875876 PMID:10878476 PMID:10909845 PMID:10922395 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10963013 PMID:10970190 PMID:10980579 PMID:11001817 PMID:11005149 PMID:11025834 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11137998 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11278813 PMID:11280952 PMID:11303517 PMID:11336401 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11390899 PMID:11427889 PMID:11430710 PMID:11446424 PMID:11448786 PMID:11462247 PMID:11466205 PMID:11484207 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11585852 PMID:11668613 PMID:11729110 PMID:11732487 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11788090 PMID:11788091 PMID:11796434 PMID:11810271 PMID:11883825 PMID:11888281 PMID:11924117 PMID:11933191 PMID:11938439 PMID:11950844 PMID:12007216 PMID:12014388 PMID:12070257 PMID:12080183 PMID:12116247 PMID:12120234 PMID:12124706 PMID:12127423 PMID:12151438 PMID:12166651 PMID:12167682 PMID:12172395 PMID:12200467 PMID:12397022 PMID:12400067 PMID:12414835 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12521276 PMID:12578973 PMID:12624947 PMID:12658038 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12843327 PMID:12865275 PMID:12874665 PMID:12919146 PMID:12938099 PMID:12940920 PMID:12952861 PMID:12955726 PMID:14526128 PMID:14586256 PMID:14618962 PMID:14685937 PMID:14872121 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15024729 PMID:15025720 PMID:15040442 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15241793 PMID:15246977 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357568 PMID:15365999 PMID:15367919 PMID:15367921 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15463840 PMID:15463866 PMID:15463888 PMID:15463906 PMID:15463907 PMID:15463919 PMID:15480987 PMID:15482777 PMID:15486385 PMID:15502086 PMID:15504721 PMID:15520400 PMID:15536480 PMID:15614862 PMID:15619635 PMID:15638824 PMID:15640323 PMID:15645635 PMID:15681482 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15716623 PMID:15738290 PMID:15744517 PMID:15744523 PMID:15758663 PMID:15772171 PMID:15775704 PMID:15776432 PMID:15784035 PMID:15829248 PMID:15857421 PMID:15858154 PMID:15905293 PMID:15948195 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16049310 PMID:16051530 PMID:16075239 PMID:16126774 PMID:16128988 PMID:16132229 PMID:16134171 PMID:16141195 PMID:16187186 PMID:16189704 PMID:16193325 PMID:16199547 PMID:16244288 PMID:16251901 PMID:16263954 PMID:16266832 PMID:16275171 PMID:16283068 PMID:16283887 PMID:16339147 PMID:16362824 PMID:16435054 PMID:16436643 PMID:16442101 PMID:16443646 PMID:16478680 PMID:16481891 PMID:16484308 PMID:16488363 PMID:16499810 PMID:16596947 PMID:16617247 PMID:16635477 PMID:16678503 PMID:16741161 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16786510 PMID:16801189 PMID:16840743 PMID:16915933 PMID:16931591 PMID:16963320 PMID:16980811 PMID:17003641 PMID:17015492 PMID:17020467 PMID:17020473 PMID:17035430 PMID:17048214 PMID:17098482 PMID:17098864 PMID:17127107 PMID:17175965 PMID:17206681 PMID:17235394 PMID:17244607 PMID:17272608 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17348320 PMID:17353351 PMID:17380060 PMID:17413420 PMID:17448246 PMID:17449517 PMID:17475917 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17516627 PMID:17539902 PMID:17572159 PMID:17576681 PMID:17580535 PMID:17591940 PMID:17594397 PMID:17594398 PMID:17662673 PMID:17663888 PMID:17681820 PMID:17692578 PMID:17716958 PMID:17718859 PMID:17719933 PMID:17850636 PMID:17890437 PMID:17901983 PMID:17949679 PMID:17968991 PMID:17975025 PMID:18078365 PMID:18167357 PMID:18178635 PMID:18180206 PMID:18193900 PMID:18195584 PMID:18230692 PMID:18234567 PMID:18304229 PMID:18305154 PMID:18306312 PMID:18373402 PMID:18394117 PMID:18421494 PMID:18449561 PMID:18455968 PMID:18456578 PMID:18501000 PMID:18507830 PMID:18556774 PMID:18567645 PMID:18639722 PMID:18685558 PMID:18687795 PMID:18703181 PMID:18703788 PMID:18716917 PMID:18778819 PMID:18782298 PMID:18796364 PMID:18937943 PMID:18951463 PMID:19014821 PMID:19017867 PMID:19019741 PMID:19092437 PMID:19092444 PMID:19176844 PMID:19181854 PMID:19202204 PMID:19227414 PMID:19236881 PMID:19265749 PMID:19318035 PMID:19318346 PMID:19324992 PMID:19359498 PMID:19383231 PMID:19459534 PMID:19491324 PMID:19550280 PMID:19625452 PMID:19652440 PMID:19710401 PMID:19734299 PMID:19810821 PMID:19812525 PMID:19823873 PMID:19833837 PMID:19837664 PMID:19845690 PMID:19846789 PMID:19878303 PMID:19880712 PMID:19883345 PMID:19885835 PMID:19893581 PMID:19897426 PMID:19910674 PMID:19914431 PMID:19925455 PMID:20021716 PMID:20052365 PMID:20052366 PMID:20059485 PMID:20100616 PMID:20116881 PMID:20163773 PMID:20167849 PMID:20186691 PMID:20217271 PMID:20233062 PMID:20301295 PMID:20301428 PMID:20301773 PMID:20381036 PMID:20435887 PMID:20448091 PMID:20460946 PMID:20510657 PMID:20512161 PMID:20522854 PMID:20538955 PMID:20551465 PMID:20558957 PMID:20571109 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20651897 PMID:20657600 PMID:20659818 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20717170 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20849526 PMID:20865572 PMID:20879059 PMID:20880762 PMID:20920895 PMID:20923678 PMID:20932301 PMID:20932506 PMID:20949073 PMID:20952391 PMID:20974851 PMID:20977904 PMID:20981092 PMID:21068670 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21184098 PMID:21198395 PMID:21228398 PMID:21254931 PMID:21388895 PMID:21411740 PMID:21416780 PMID:21429822 PMID:21486785 PMID:21499205 PMID:21507732 PMID:21514289 PMID:21520337 PMID:21594800 PMID:21642448 PMID:21658649 PMID:21679131 PMID:21708286 PMID:21716075 PMID:21779199 PMID:21783433 PMID:21796730 PMID:21804385 PMID:21811577 PMID:21858268 PMID:21907281 PMID:21909392 PMID:21931512 PMID:21965669 PMID:21976147 PMID:21983488 PMID:21996038 PMID:21998193 PMID:22020151 PMID:22043142 PMID:22047557 PMID:22094894 PMID:22103471 PMID:22138447 PMID:22148899 PMID:22210114 PMID:22271776 PMID:22293084 PMID:22299590 PMID:22318583 PMID:22324837 PMID:22326559 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22427236 PMID:22438829 PMID:22439019 PMID:22449949 PMID:22468138 PMID:22483971 PMID:22504961 PMID:22569626 PMID:22572128 PMID:22591852 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22680785 PMID:22724884 PMID:22768251 PMID:22842702 PMID:22892530 PMID:22942289 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23027855 PMID:23055971 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23104983 PMID:23168765 PMID:23206872 PMID:23261175 PMID:23276700 PMID:23286748 PMID:23302613 PMID:23313410 PMID:23343000 PMID:23361109 PMID:23378595 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23405520 PMID:23420618 PMID:23436935 PMID:23466340 PMID:23470247 PMID:23503723 PMID:23514810 PMID:23523379 PMID:23555973 PMID:23590265 PMID:23613805 PMID:23620589 PMID:23628510 PMID:23656801 PMID:23666117 PMID:23670503 PMID:23687349 PMID:23709221 PMID:23716676 PMID:23721890 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23775370 PMID:23781395 PMID:23810505 PMID:23837941 PMID:23846440 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23924900 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24058550 PMID:24066763 PMID:24081349 PMID:24129438 PMID:24204751 PMID:24243928 PMID:24269240 PMID:24272871 PMID:24375076 PMID:24412276 PMID:24418186 PMID:24419263 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24440239 PMID:24451227 PMID:24461666 PMID:24517344 PMID:24525081 PMID:24559724 PMID:24586523 PMID:24624459 PMID:24631642 PMID:24696795 PMID:24697796 PMID:24727426 PMID:24762087 PMID:24784896 PMID:24813944 PMID:24958810 PMID:24973281 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25077647 PMID:25087612 PMID:25122143 PMID:25133958 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25192979 PMID:25203624 PMID:25251442 PMID:25266159 PMID:25274949 PMID:25287046 PMID:25304080 PMID:25308578 PMID:25311995 PMID:25326635 PMID:25330774 PMID:25333069 PMID:25346962 PMID:25383785 PMID:25403292 PMID:25443471 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25525159 PMID:25569187 PMID:25580864 PMID:25583415 PMID:25608981 PMID:25636364 PMID:25651269 PMID:25667564 PMID:25674778 PMID:25682022 PMID:25697318 PMID:25697321 PMID:25698453 PMID:25704068 PMID:25732475 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25741905 PMID:25741909 PMID:25741914 PMID:25741916 PMID:25754095 PMID:25755212 PMID:25763566 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25900089 PMID:25910067 PMID:25940043 PMID:25963003 PMID:25981758 PMID:26006199 PMID:26014425 PMID:26038974 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26089335 PMID:26095523 PMID:26098992 PMID:26100556 PMID:26135562 PMID:26149808 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26324139 PMID:26335950 PMID:26348465 PMID:26364555 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26493493 PMID:26500004 PMID:26538069 PMID:26553470 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26656651 PMID:26671754 PMID:26683699 PMID:26708955 PMID:26755536 PMID:26795017 PMID:26800689 PMID:26823392 PMID:26846474 PMID:26847993 PMID:26856987 PMID:26856995 PMID:26888287 PMID:26898888 PMID:26900683 PMID:26911355 PMID:26946416 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27081564 PMID:27086061 PMID:27143075 PMID:27158673 PMID:27171515 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27324553 PMID:27334259 PMID:27347467 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27535533 PMID:27555793 PMID:27577878 PMID:27578509 PMID:27625827 PMID:27660821 PMID:27665964 PMID:27673710 PMID:27707539 PMID:27717243 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27787503 PMID:27805836 PMID:27812499 PMID:27884173 PMID:27895116 PMID:27898234 PMID:27917292 PMID:28027573 PMID:28040058 PMID:28129809 PMID:28194692 PMID:28261631 PMID:28325531 PMID:28340353 PMID:28366727 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28422754 PMID:28440306 PMID:28456595 PMID:28465863 PMID:28469871 PMID:28492530 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28617084 PMID:28646244 PMID:28651844 PMID:28655774 PMID:28711222 PMID:28736296 PMID:28784578 PMID:28801929 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28947035 PMID:28968805 PMID:28978796 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29208182 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29292091 PMID:29298718 PMID:29327948 PMID:29360847 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29504914 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29669919 PMID:29727070 PMID:29754320 PMID:29779145 PMID:29805046 PMID:29807875 PMID:29859674 PMID:29924856 PMID:29936070 PMID:29944384 PMID:29997923 PMID:30019023 PMID:30030066 PMID:30032850 PMID:30046002 PMID:30089726 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30233781 PMID:30244528 PMID:30279124 PMID:30293248 PMID:30379828 PMID:30420730 PMID:30444886 PMID:30450785 PMID:30459277 PMID:30487145 PMID:30488522 PMID:30540547 PMID:30548586 PMID:30577776 PMID:30592194 PMID:30600599 PMID:30602999 PMID:30606298 PMID:30609409 PMID:30698611 PMID:30758641 PMID:30760291 PMID:30763667 PMID:30805437 PMID:30811104 PMID:30842938 PMID:30845638 PMID:30873022 PMID:30888834 PMID:30938940 PMID:30979466 PMID:30992994 PMID:30996306 PMID:31005549 PMID:31019283 PMID:31028937 PMID:31036917 PMID:31088717 PMID:31118044 PMID:31126253 PMID:31130284 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31310009 PMID:31331863 PMID:31350925 PMID:31378749 PMID:31423445 PMID:31447099 PMID:31450232 PMID:31508243 PMID:31523618 PMID:31589614 PMID:31655510 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31740593 PMID:31759907 PMID:31788424 PMID:31808782 PMID:31844968 PMID:31845523 PMID:31848897 PMID:31872980 PMID:31883651 PMID:31916691 PMID:31940241 PMID:31978131 PMID:31980526 PMID:31990467 PMID:31992191 PMID:32003480 PMID:32025909 PMID:32113160 PMID:32143663 PMID:32150665 PMID:32155011 PMID:32172930 PMID:32185651 PMID:32204475 PMID:32220772 PMID:32256364 PMID:32281737 PMID:32357917 PMID:32387800 PMID:32429104 PMID:32447501 PMID:32483343 PMID:32484936 PMID:32512765 PMID:32539862 PMID:32662942 PMID:32687833 PMID:32734384 PMID:32761997 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32906206 PMID:32926152 PMID:32934006 PMID:33020115 PMID:33083013 PMID:33097431 PMID:33118704 PMID:33138774 PMID:33144682 PMID:33260873 PMID:33270637 PMID:33341408 PMID:33348555 PMID:33365035 PMID:33374015 PMID:33375403 PMID:33393655 PMID:33468668 PMID:33470563 PMID:33502066 PMID:33512069 PMID:33572515 PMID:33577586 PMID:33613790 PMID:33686728 PMID:33713579 PMID:33768849 PMID:33771570 PMID:33781744 PMID:33836782 PMID:33855558 PMID:33883100 PMID:33922413 PMID:33946859 PMID:33949881 PMID:33972190 PMID:34086689 PMID:34134972 PMID:34140271 PMID:34145097 PMID:34163370 PMID:34190021 PMID:34196078 PMID:34276759 PMID:34350279 PMID:34405919 PMID:34426522 PMID:34525262 PMID:34583889 PMID:34680554 PMID:34740355 PMID:34764021 PMID:34782259 PMID:34814176 PMID:34860163 PMID:34888852 PMID:34952832 PMID:34964109 PMID:34974990 PMID:34996830 PMID:35011616 PMID:35096544 PMID:35109852 PMID:35171259 PMID:35273129 PMID:35313924 PMID:35387941 PMID:35418593 PMID:35451201 PMID:35527187 PMID:35585144 PMID:35626323 PMID:35698092 PMID:35816621 PMID:35913788 PMID:35934641 PMID:35997436 PMID:36142302 PMID:36207272 PMID:36264955 PMID:36293274 PMID:36319933 PMID:36409994 PMID:36458240 PMID:36552859 PMID:36567205 PMID:36631132 PMID:36650664 PMID:36670555 PMID:36828084 PMID:36982273 PMID:37327085 PMID:37431359 PMID:238191399 More...
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
G
Clec5a
C-type lectin domain family 5, member a
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,551,832...40,562,739
Ensembl chr 6:40,551,828...40,562,755
G
Cpa1
carboxypeptidase A1, pancreatic
ISO
ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23955596 PMID:24522117 PMID:25741868 PMID:26658419 PMID:27449771 PMID:28166811 PMID:28492532 PMID:28497564 PMID:28861620 PMID:29669919 PMID:30045879 PMID:30862690 PMID:30883245 PMID:36555104 More...
NCBI chr 6:30,639,217...30,645,360
Ensembl chr 6:30,639,217...30,645,362
G
Ctrc
chymotrypsin C
susceptibility
ISO
ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8168476 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18059268 PMID:18172691 PMID:19404200 PMID:19407484 PMID:19453252 PMID:19951900 PMID:20625975 PMID:21631589 PMID:22427236 PMID:22580415 PMID:22942235 PMID:23135764 PMID:23430245 PMID:23686146 PMID:23721890 PMID:23951356 PMID:24002981 PMID:24413785 PMID:25251442 PMID:25383785 PMID:25569187 PMID:25636364 PMID:25658757 PMID:25741868 PMID:26013824 PMID:26022124 PMID:26100556 PMID:26166474 PMID:27086061 PMID:27264265 PMID:27409067 PMID:28440306 PMID:28492532 PMID:28497564 PMID:28502372 PMID:28650851 PMID:29173301 PMID:29669919 PMID:30134826 PMID:30420730 PMID:30640231 PMID:31900721 PMID:32948427 PMID:33101984 PMID:35171259 More...
NCBI chr 4:141,565,550...141,573,598
Ensembl chr 4:141,565,550...141,573,670
G
Ddi2
DNA-damage inducible protein 2
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,410,874...141,450,730
Ensembl chr 4:141,404,860...141,450,730
G
Dnajc16
DnaJ heat shock protein family (Hsp40) member C16
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,487,498...141,518,255
Ensembl chr 4:141,487,500...141,518,242
G
Ephb6
Eph receptor B6
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:41,581,940...41,597,445
Ensembl chr 6:41,582,416...41,597,443
G
LOC111674480
Cftr promoter region
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:11788090 PMID:23470247 PMID:23810505 PMID:24033266 PMID:25741868 PMID:25797027 PMID:25900089 PMID:26467025 PMID:26847993 PMID:28492532 PMID:28603918 More...
NCBI chr 6:18,169,701...18,171,127
G
Mgam
maltase-glucoamylase
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,605,765...40,746,057
Ensembl chr 6:40,605,765...40,746,057
G
Or9a4
olfactory receptor family 9 subfamily A member 4
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,546,086...40,549,438
Ensembl chr 6:40,546,421...40,551,277
G
Plekhm2
pleckstrin homology domain containing, family M (with RUN domain) member 2
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,353,043...141,391,457
Ensembl chr 4:141,353,045...141,392,210
G
Prss2
serine protease 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatitis, chronic, protection against
OMIM CTD ClinVar
PMID:16699518
NCBI chr 6:41,498,710...41,502,013
Ensembl chr 6:41,498,721...41,502,013
G
Prss37
serine protease 37
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,491,757...40,496,418
Ensembl chr 6:40,491,758...40,496,442
G
Prss58
serine protease 58
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,872,196...40,877,321
Ensembl chr 6:40,872,204...40,877,321
G
Rsc1a1
regulatory solute carrier protein, family 1, member 1
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,410,874...141,413,027
Ensembl chr 4:141,411,162...141,412,910
G
Sar1b
secretion associated Ras related GTPase 1B
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:12692552 PMID:25741868
NCBI chr11:51,654,490...51,682,780
Ensembl chr11:51,654,514...51,682,752
G
Slc25a34
solute carrier family 25, member 34
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:23721890 PMID:28492532
NCBI chr 4:141,346,130...141,351,202
Ensembl chr 4:141,346,135...141,351,132
G
Spink1
serine peptidase inhibitor, Kazal type 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to
CTD OMIM ClinVar
PMID:120111 PMID:1613792 PMID:1870127 PMID:3501289 PMID:9536098 PMID:10691414 PMID:10835640 PMID:10982753 PMID:11265669 PMID:11355022 PMID:11368029 PMID:11578065 PMID:11950815 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12651880 PMID:12658397 PMID:12743777 PMID:12825076 PMID:12853682 PMID:12939655 PMID:14526128 PMID:14722925 PMID:15800694 PMID:15980664 PMID:16823394 PMID:16849362 PMID:16885867 PMID:17003641 PMID:17048046 PMID:17204147 PMID:17274009 PMID:17466744 PMID:17525091 PMID:17568390 PMID:17576681 PMID:17681820 PMID:18172691 PMID:18182741 PMID:18206809 PMID:18206817 PMID:18286680 PMID:18414673 PMID:18570327 PMID:18580441 PMID:18617776 PMID:18978175 PMID:19299380 PMID:19372376 PMID:19453252 PMID:19565042 PMID:19888199 PMID:20510827 PMID:21303407 PMID:21375584 PMID:21610753 PMID:21952138 PMID:22094894 PMID:22228370 PMID:22343980 PMID:22343981 PMID:22427236 PMID:22526274 PMID:22572128 PMID:22577471 PMID:22749696 PMID:22995991 PMID:23017645 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24052272 PMID:24522117 PMID:24795752 PMID:24844923 PMID:24909264 PMID:25010710 PMID:25206283 PMID:25383785 PMID:25741868 PMID:25792561 PMID:25927356 PMID:26228362 PMID:26348468 PMID:26632706 PMID:26719302 PMID:27171515 PMID:27535533 PMID:27578509 PMID:28320769 PMID:28440306 PMID:28472998 PMID:28492532 PMID:28502372 PMID:28536777 PMID:28546060 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28687971 PMID:28984793 PMID:28994706 PMID:29521951 PMID:30420730 PMID:31391146 PMID:31401021 PMID:31628023 PMID:32948427 PMID:33097431 PMID:33515547 PMID:33534223 PMID:34828289 PMID:35974416 More...
NCBI chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622
G
Ssbp1
single-stranded DNA binding protein 1
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,448,302...40,458,757
Ensembl chr 6:40,448,286...40,461,634
G
Tas2r108
taste receptor, type 2, member 108
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,470,526...40,471,419
Ensembl chr 6:40,470,463...40,471,475
G
Tas2r137
taste receptor, type 2, member 137
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,468,172...40,469,173
Ensembl chr 6:40,468,167...40,469,239
G
Tas2r138
taste receptor, type 2, member 138
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:40,589,249...40,590,244
Ensembl chr 6:40,589,249...40,590,244
G
Trpv6
transient receptor potential cation channel, subfamily V, member 6
ISO
ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar
PMID:25741868
NCBI chr 6:41,597,553...41,613,339
Ensembl chr 6:41,597,558...41,613,339
G
Try10
trypsin 10
ISO
ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2539344 PMID:6023921 PMID:8841182 PMID:9322498 PMID:9536098 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10381903 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10930381 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11260229 PMID:11312265 PMID:11702203 PMID:11708864 PMID:11719509 PMID:11734061 PMID:11748242 PMID:11788572 PMID:11842279 PMID:11866271 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12413370 PMID:12508340 PMID:12765848 PMID:12832630 PMID:12853682 PMID:14526128 PMID:14695529 PMID:15017610 PMID:15028953 PMID:15776435 PMID:15786540 PMID:15970597 PMID:16036133 PMID:16199547 PMID:16227369 PMID:16505482 PMID:16632094 PMID:16791840 PMID:16954950 PMID:17003641 PMID:17204147 PMID:17568390 PMID:17576681 PMID:18063422 PMID:18184119 PMID:18272034 PMID:18286680 PMID:18461367 PMID:18511571 PMID:18580441 PMID:18755888 PMID:19191323 PMID:19433603 PMID:19453252 PMID:19454815 PMID:19584086 PMID:19857283 PMID:19951905 PMID:20001681 PMID:20452997 PMID:20502448 PMID:20510827 PMID:20950468 PMID:21415673 PMID:21499205 PMID:21907651 PMID:22094894 PMID:22379635 PMID:22427236 PMID:22539344 PMID:22749696 PMID:23143602 PMID:23455445 PMID:23601753 PMID:23686146 PMID:23751316 PMID:23951356 PMID:24002981 PMID:24033266 PMID:24413785 PMID:24458023 PMID:24525505 PMID:24780743 PMID:24909264 PMID:25206283 PMID:25383785 PMID:25479140 PMID:25543846 PMID:25546417 PMID:25741868 PMID:26182300 PMID:26376395 PMID:26546433 PMID:26658045 PMID:26833332 PMID:27179762 PMID:27264265 PMID:27409067 PMID:27578509 PMID:27673710 PMID:28166811 PMID:28492532 PMID:28502372 PMID:28536777 PMID:28650851 PMID:28767289 PMID:28861620 PMID:29173301 PMID:29215622 PMID:29555771 PMID:29625052 PMID:29915322 PMID:30018304 PMID:30113427 PMID:30420730 PMID:30850667 PMID:31419436 PMID:31521106 PMID:31751559 PMID:31780696 PMID:34065437 PMID:36517351 More...
NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
G
Hmgcs2
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2
ISO IAGP
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY CTD Direct Evidence: marker/mechanism OMIM:605911
OMIM ClinVar CTD MouseDO
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 PMID:12072887 PMID:12647205 PMID:16199547 PMID:17576681 PMID:20346956 PMID:23751782 PMID:25511235 PMID:25741868 PMID:28492532 PMID:29597274 PMID:30283815 PMID:30477625 PMID:31910233 PMID:32259399 PMID:32952630 PMID:33045405 PMID:35308163 More...
NCBI chr 3:98,187,747...98,218,054
Ensembl chr 3:98,187,751...98,218,054
G
Phgdh
3-phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency
ClinVar
NCBI chr 3:98,220,487...98,247,285
Ensembl chr 3:98,220,486...98,247,306
G
Abcc8
ATP-binding cassette, sub-family C member 8
IAGP ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
MouseDO ClinVar
PMID:1021286 PMID:2198959 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11867634 PMID:11872696 PMID:11999683 PMID:12169627 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17823772 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18493152 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943779 PMID:20943781 PMID:21378087 PMID:21422196 PMID:21674179 PMID:21716120 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22591706 PMID:22704848 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23744072 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24686051 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25741868 PMID:25765446 PMID:25972930 PMID:26180531 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26740944 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27889714 PMID:27908292 PMID:28492532 PMID:28701683 PMID:29644095 PMID:29893194 PMID:30098243 PMID:30186238 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30977832 PMID:31208162 PMID:31604004 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32202736 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32928245 PMID:33046911 PMID:33410562 PMID:34171966 PMID:34426522 PMID:34462253 PMID:34631896 PMID:34764980 PMID:34927408 PMID:36339418 More...
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
G
Gck
glucokinase
IAGP
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
MouseDO
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
G
Hadh
hydroxyacyl-Coenzyme A dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar
PMID:8825408 PMID:16725361 PMID:19417036 PMID:21347589 PMID:23275527 PMID:25741868 PMID:27104957 PMID:27771675 PMID:28492532 PMID:29280746 PMID:32876354 PMID:34055426 PMID:34547194 More...
NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750
G
Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia
ClinVar
PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:15886397 PMID:16357843 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:21119644 PMID:21544516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:23275527 PMID:24018988 PMID:24401662 PMID:25741868 PMID:26448950 PMID:26467025 PMID:27908292 PMID:28123437 PMID:28492532 PMID:29893194 PMID:30377186 PMID:32935446 More...
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
G
Abcc8
ATP-binding cassette, sub-family C member 8
susceptibility
ISO
ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
ClinVar RGD
PMID:1021286 PMID:7716548 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10202168 PMID:10204114 PMID:10338089 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10828824 PMID:10857971 PMID:10923633 PMID:10993895 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11395395 PMID:11457841 PMID:11692183 PMID:11697420 PMID:11867634 PMID:11872696 PMID:11999683 PMID:12166651 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15842514 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:19933268 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21716120 PMID:21814221 PMID:21851374 PMID:21978130 PMID:21989597 PMID:22082043 PMID:22151254 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22533711 PMID:22562119 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22902787 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23744072 PMID:23771172 PMID:23771920 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25871929 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26221353 PMID:26246406 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27681997 PMID:27682711 PMID:27754802 PMID:27908292 PMID:27913849 PMID:28095440 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28663158 PMID:28701683 PMID:28757749 PMID:29207974 PMID:29644095 PMID:29751826 PMID:29893194 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30447144 PMID:30462810 PMID:30515958 PMID:31291970 PMID:31464105 PMID:31604004 PMID:31821855 PMID:32027066 PMID:32041611 PMID:32333556 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32934261 PMID:32935446 PMID:33046911 PMID:33185579 PMID:33240318 PMID:33300273 PMID:33400071 PMID:33410562 PMID:34171966 PMID:34194474 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34631896 PMID:34777243 PMID:35402560 PMID:36339418 PMID:36407475 PMID:16416420 PMID:12199344 More...
RGD:1625279 , RGD:1598639
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
G
Adcyap1
adenylate cyclase activating polypeptide 1
IMP
RGD
PMID:14742740
RGD:2325255
NCBI chr17:93,506,448...93,513,967
Ensembl chr17:93,506,445...93,513,965
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:16414018
RGD:1599145
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
G
Adipor1
adiponectin receptor 1
ISO
mRNA:decreased expression:skeletal muscle cell
RGD
PMID:16326833
RGD:1625765
NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
G
Adipor2
adiponectin receptor 2
ISO
mRNA:decreased expression:skeletal muscle cell
RGD
PMID:16326833
RGD:1625765
NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665
G
Adm
adrenomedullin
ISO
associated with Obesity;protein:increased expression:plasma
RGD
PMID:15789277
RGD:1625301
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
G
Adra1b
adrenergic receptor, alpha 1b
susceptibility
IAGP
RGD
PMID:14581480
RGD:1625772
NCBI chr11:43,665,432...43,792,076
Ensembl chr11:43,665,433...43,792,037
G
Adrb3
adrenergic receptor, beta 3
IEP
associated with Obesity;mRNA:decreased expression:epidydimis, white fat
RGD
PMID:11014217
RGD:2313165
NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
G
Agt
angiotensinogen
ISO
associated with obesity;DNA:polymorphism: :p.M235T
RGD
PMID:16713443
RGD:1601142
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
G
Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:16565309
RGD:1642975
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
G
Bbs1
Bardet-Biedl syndrome 1
IMP
RGD
PMID:33722691
RGD:243065268
NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656
G
Brd2
bromodomain containing 2
IMP
RGD
PMID:19883376
RGD:9586446
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29035695 PMID:17180354
RGD:8549642
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Cd163
CD163 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
G
Cd40
CD40 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
G
Cd68
CD68 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979
G
Cdkn1c
cyclin dependent kinase inhibitor 1C
ISO
DNA:loss of heterozygosity:pancreatic islet
RGD
PMID:11723059
RGD:2311334
NCBI chr 7:143,012,076...143,014,735
Ensembl chr 7:143,012,076...143,014,787
G
Col3a1
collagen, type III, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
G
Ddc
dopa decarboxylase
ISO
protein:increased expression:pancreatic beta cell (human)
RGD
PMID:16403819
RGD:5129140
NCBI chr11:11,764,101...11,848,144
Ensembl chr11:11,764,101...11,848,144
G
Fanca
Fanconi anemia, complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22482891
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
G
Fancc
Fanconi anemia, complementation group C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22482891
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
G
Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
G
Foxa2
forkhead box A2
IAGP
RGD
PMID:11445544
RGD:2313243
NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889
G
Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3019152
NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
G
Gck
glucokinase
ISO
hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar RGD
PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33129248 PMID:9435328 More...
RGD:1601294
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
G
Gfpt1
glutamine fructose-6-phosphate transaminase 1
ISO
mRNA:increased expression:gastrocnemius
RGD
PMID:16555472
RGD:1624365
NCBI chr 6:87,019,828...87,069,189
Ensembl chr 6:87,019,828...87,069,179
G
Gip
gastric inhibitory polypeptide
ISO
protein:decreased expression:plasma (rat)
RGD
PMID:8059006
RGD:2312550
NCBI chr11:95,915,358...95,921,657
Ensembl chr11:95,915,371...95,921,657
G
Glud1
glutamate dehydrogenase 1
ISO IGI
familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A ClinVar Annotator: match by term: Hyperinsulinism, Dominant CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9571255 PMID:25741868 PMID:26467025 PMID:28492532 PMID:10636977 PMID:20670938 More...
RGD:1601353 , RGD:6484656
NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
G
Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15184668 PMID:18560803
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
G
Hadh
hydroxyacyl-Coenzyme A dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
ClinVar
PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194
NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750
G
Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19171794
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Hnf4a
hepatic nuclear factor 4, alpha
IMP ISO
ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar RGD
PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 PMID:16883527 PMID:16917892 PMID:16946562 PMID:17563455 PMID:17573900 PMID:18268044 PMID:18811724 PMID:19406499 PMID:20164212 PMID:20705777 PMID:21353246 PMID:22662265 PMID:22802087 PMID:23348805 PMID:23485969 PMID:24033266 PMID:24285859 PMID:25741868 PMID:25819479 PMID:26467025 PMID:27245055 PMID:27846149 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28844315 PMID:29493090 PMID:29998026 PMID:30005691 PMID:30977832 PMID:31523701 PMID:31529154 PMID:31529156 PMID:31875549 PMID:32583173 PMID:34789499 PMID:35052457 PMID:35118593 PMID:36208030 PMID:36257325 PMID:17407387 More...
RGD:12904698
NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830
G
Hp
haptoglobin
ISO
protein:increased expression:serum
RGD
PMID:17598972
RGD:1626335
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
G
Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD
PMID:19375766
RGD:2307250
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:2991050 PMID:3511099 PMID:4019786 PMID:6382002 PMID:36764371 PMID:9667398 More...
RGD:1625121
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
G
Insr
insulin receptor
IMP ISO IAGP
CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.P1195L (mouse)
CTD RGD
PMID:10949030 PMID:18411068 PMID:10949030 PMID:21549686
RGD:1302523 , RGD:10403034
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
G
Ireb2
iron responsive element binding protein 2
ISO
protein:increased expression:liver (rat)
RGD
PMID:25385842
RGD:12903966
NCBI chr 9:54,769,942...54,819,812
Ensembl chr 9:54,771,073...54,819,814
G
Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19734900
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
G
Itgam
integrin alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
G
Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive protein:substitution: :p.H259R (human)
ClinVar RGD
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15448106 PMID:15504982 PMID:15531505 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15797964 PMID:15838686 PMID:15855351 PMID:16123337 PMID:16205880 PMID:16416420 PMID:16455067 PMID:16609879 PMID:16670688 PMID:16731837 PMID:16885549 PMID:16885550 PMID:17065345 PMID:17257281 PMID:17316607 PMID:17327377 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17823772 PMID:17901525 PMID:18414213 PMID:18596924 PMID:18662362 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20022885 PMID:20032456 PMID:20049716 PMID:20220270 PMID:20301620 PMID:20424228 PMID:20466780 PMID:20589481 PMID:20685672 PMID:20980454 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22471336 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22768671 PMID:23700433 PMID:24068186 PMID:24434300 PMID:24622368 PMID:24698822 PMID:25308342 PMID:25639667 PMID:25741868 PMID:25871929 PMID:26448950 PMID:26467025 PMID:26740944 PMID:26839896 PMID:26958039 PMID:27173951 PMID:27181376 PMID:27681997 PMID:28480665 PMID:28492532 PMID:28938416 PMID:29893194 PMID:32027066 PMID:32893419 PMID:32935446 PMID:33046911 PMID:33987715 PMID:16416420 PMID:15998776 More...
RGD:1625279 , RGD:1625277
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9826672 PMID:22948215
RGD:12904911
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3519326 PMID:15093691 PMID:22949526 PMID:24384915 PMID:25222487 PMID:29988851 PMID:30689673 PMID:33345901 PMID:26537785 More...
RGD:12911216
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lipc
lipase, hepatic
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD
PMID:7047662 PMID:1592086 PMID:11095452
RGD:2308800 , RGD:2308794 , RGD:2308844
NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
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Lta
lymphotoxin A
ISO
associated with Coronary Arteriosclerosis
RGD
PMID:9726033
RGD:1625034
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23251400
NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
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Mgrn1
mahogunin, ring finger 1
IAGP
RGD
PMID:16638826
RGD:1641947
NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160
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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
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Mttp
microsomal triglyceride transfer protein
susceptibility
ISO
DNA:polymorphism:promoter:-493G>T
RGD
PMID:11849654
RGD:1625490
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
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Neil1
nei endonuclease VIII-like 1 (E. coli)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19008412
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Npy5r
neuropeptide Y receptor Y5
ISO
RGD
PMID:15187000
RGD:1625494
NCBI chr 8:67,132,617...67,140,746
Ensembl chr 8:67,132,617...67,140,780
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Parl
presenilin associated, rhomboid-like
no_association
ISO
DNA:missense mutation:cds:p.L262V (human)
RGD
PMID:15729572 PMID:19185381
RGD:12880443 , RGD:12880445
NCBI chr16:20,098,570...20,121,090
Ensembl chr16:20,098,568...20,121,137
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Pfkfb1
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
ISO
associated with Obesity;protein:increased expression:liver
RGD
PMID:9705027
RGD:2302681
NCBI chr X:149,370,441...149,426,874
Ensembl chr X:149,371,225...149,426,874
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Pklr
pyruvate kinase liver and red blood cell
IEP
mRNA:increased expression:liver
RGD
PMID:14766002
RGD:1625581
NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091
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Prkcd
protein kinase C, delta
ISO
RGD
PMID:8826977
RGD:1625605
NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167
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Prkcq
protein kinase C, theta
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus
RGD
PMID:8826977
RGD:1625605
NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:ovary
RGD
PMID:18421022
RGD:2292519
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: therapeutic associated with Carotid Artery Injuries;mRNA, protein:altered expression, altered activity:carotid artery (rat)
CTD RGD
PMID:28899902 PMID:19011046
RGD:401965418
NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305
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Ptprf
protein tyrosine phosphatase receptor type F
ISO
mouse model overexpressing human transgene
RGD
PMID:11309481
RGD:1642735
NCBI chr 4:118,065,410...118,148,602
Ensembl chr 4:118,065,410...118,148,602
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Rbp4
retinol binding protein 4, plasma
onset
ISO
associated with coronary artery disease;protein:increased expression:blood serum (human)
RGD
PMID:25233041
RGD:329845593
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Rps6kb1
ribosomal protein S6 kinase, polypeptide 1
ISO
protein:increased phosphorylation:liver, skeletal muscle
RGD
PMID:15692808
RGD:1643026
NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631
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Scd1
stearoyl-Coenzyme A desaturase 1
ISO
associated with Obesity
RGD
PMID:16284748
RGD:1580005
NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
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Shld2
shieldin complex subunit 2
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
NCBI chr14:33,958,905...34,032,528
Ensembl chr14:33,958,990...34,032,450
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Slc16a1
solute carrier family 16 (monocarboxylic acid transporters), member 1
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:104,545,980...104,565,778
Ensembl chr 3:104,545,984...104,565,778
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Slc27a1
solute carrier family 27 (fatty acid transporter), member 1
ISO
RGD
PMID:15281014
RGD:1642794
NCBI chr 8:72,021,372...72,039,951
Ensembl chr 8:72,021,526...72,039,946
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tsc22d3
TSC22 domain family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22556341
NCBI chr X:139,440,277...139,501,257
Ensembl chr X:139,440,277...139,501,408
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Txnip
thioredoxin interacting protein
susceptibility
IAGP
DNA:nonsense mutation
RGD
PMID:15047687
RGD:1642753
NCBI chr 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
ClinVar Annotator: match by term: UCP2-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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Abcc8
ATP-binding cassette, sub-family C member 8
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar RGD
PMID:10204114 PMID:10685980 PMID:16380471 PMID:16416420 PMID:16613899 PMID:16885549 PMID:17539904 PMID:18025408 PMID:18596924 PMID:18981553 PMID:20849526 PMID:21989597 PMID:22210575 PMID:23275527 PMID:23345197 PMID:25741868 PMID:26467025 PMID:27538677 PMID:28492532 PMID:30297969 PMID:30447144 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32640185 PMID:32792356 PMID:33565752 PMID:34171966 PMID:34426522 PMID:34462253 PMID:36208030 PMID:18776135 More...
RGD:2301896
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
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Agtr2
angiotensin II receptor, type 2
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human)
RGD
PMID:18328310
RGD:2313551
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34848246
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Akt2
thymoma viral proto-oncogene 2
ISO
RGD
PMID:21979934
RGD:7248543
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15454078
NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851
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Creb1
cAMP responsive element binding protein 1
IMP
RGD
PMID:11557984
RGD:734816
NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707
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Crh
corticotropin releasing hormone
ISO
RGD
PMID:12606499
RGD:704397
NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560
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Cyp2c65
cytochrome P450, family 2, subfamily c, polypeptide 65
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human)
RGD
PMID:15963101
RGD:2307154
NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388
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Epo
erythropoietin
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:19211168
RGD:2313835
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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G6pc1
glucose-6-phosphatase catalytic subunit 1
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 PMID:8182131 PMID:8211187 PMID:8734807 PMID:9332655 PMID:10612834 PMID:10834516 PMID:10874313 PMID:11310582 PMID:11739393 PMID:12093795 PMID:12373566 PMID:12713862 PMID:15316959 PMID:18008183 PMID:18449899 PMID:20301489 PMID:21599942 PMID:23312056 PMID:24033266 PMID:24082139 PMID:24385852 PMID:25308557 PMID:25333069 PMID:25741868 PMID:25741914 PMID:28397058 PMID:28492532 PMID:29750741 PMID:32313153 PMID:33224545 PMID:33763395 PMID:34093448 More...
NCBI chr11:101,258,542...101,268,729
Ensembl chr11:101,258,387...101,268,729
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Gck
glucokinase
ISO
hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
RGD
PMID:9435328
RGD:1601294
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
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Glud1
glutamate dehydrogenase 1
ISO
familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A
RGD
PMID:10636977
RGD:1601353
NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
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Gpx3
glutathione peroxidase 3
IEP
mRNA:increased expression:retina
RGD
PMID:21738719
RGD:401827130
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Grin2b
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
ISO
mRNA, protein:increased expression:cerebellum (rat)
RGD
PMID:20056114
RGD:4107025
NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
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Gsr
glutathione reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620209
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
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Hnf1a
HNF1 homeobox A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15787664
NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153
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Hnf4a
hepatic nuclear factor 4, alpha
ISO IMP
associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation
RGD
PMID:18268044 PMID:17407387
RGD:2301837 , RGD:12904698
NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3185662
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1884014
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Inppl1
inositol polyphosphate phosphatase-like 1
IMP
RGD
PMID:11343120
RGD:737755
NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
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Ins1
insulin I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:222008 PMID:3084764 PMID:6797439 PMID:18545258
NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914
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Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:48835 PMID:1324617 PMID:1646414 PMID:1890151 PMID:2554359 PMID:20620209 PMID:22940631 More...
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:18596924 PMID:20032456 PMID:23700433 PMID:27908292 PMID:31464105
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:25741868
NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
IMP
RGD
PMID:9988280
RGD:737788
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Pnmt
phenylethanolamine-N-methyltransferase
ISO
associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat)
RGD
PMID:15494609
RGD:5130725
NCBI chr11:98,277,449...98,279,006
Ensembl chr11:98,277,276...98,279,007
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16777972
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human)
RGD
PMID:9814479
RGD:1601469
NCBI chr 6:14,713,821...14,755,273
Ensembl chr 6:14,713,976...14,755,273
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Prl
prolactin
ISO
associated with Hypertension
RGD
PMID:16617309
RGD:1642557
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
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Scn9a
sodium channel, voltage-gated, type IX, alpha
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:19763161 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 PMID:26467025 PMID:27504264 PMID:28492532 PMID:29176367 PMID:30642272 PMID:33216760 More...
NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620209
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Th
tyrosine hydroxylase
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat)
RGD
PMID:16396986
RGD:5130724
NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8774068
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
ISO
RGD
PMID:10935638
RGD:737762
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
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Akt2
thymoma viral proto-oncogene 2
ISO
ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15166380 PMID:16722806 PMID:21518566 PMID:21979934 PMID:25741868 PMID:28492532 More...
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Cltc
clathrin heavy chain
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
ClinVar
PMID:25741868
NCBI chr11:86,585,178...86,648,637
Ensembl chr11:86,585,177...86,648,391
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Ptrh2
peptidyl-tRNA hydrolase 2
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25558065 PMID:25741868 PMID:25741914 PMID:27129381 PMID:28328138 PMID:31057140 PMID:33092935 More...
NCBI chr11:86,574,900...86,583,283
Ensembl chr11:86,574,811...86,583,283
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S100pbp
S100P binding protein
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
ClinVar
PMID:25741868
NCBI chr 4:129,041,795...129,083,485
Ensembl chr 4:129,041,798...129,083,520
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Yars1
tyrosyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
ClinVar
PMID:25741868
NCBI chr 4:129,083,595...129,113,033
Ensembl chr 4:129,083,553...129,113,400
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Yars1
tyrosyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
OMIM ClinVar
PMID:3034524 PMID:14606043 PMID:16429158 PMID:19561293 PMID:25741868 PMID:25741905 PMID:26138142 PMID:26257172 PMID:26467025 PMID:26975778 PMID:27633801 PMID:28492532 PMID:29232904 PMID:29302074 PMID:30304524 PMID:31130284 PMID:33490854 PMID:34352414 PMID:34536092 More...
NCBI chr 4:129,083,595...129,113,033
Ensembl chr 4:129,083,553...129,113,400
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Acaca
acetyl-Coenzyme A carboxylase alpha
treatment
ISO
RGD
PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
G
Acacb
acetyl-Coenzyme A carboxylase beta
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22658938 PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822
G
Ace
angiotensin I converting enzyme
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
Acp1
acid phosphatase 1, soluble
IMP
associated with Obesity
RGD
PMID:17353188
RGD:2313180
NCBI chr12:30,943,325...30,961,616
Ensembl chr12:30,943,325...30,961,588
G
Acsl1
acyl-CoA synthetase long-chain family member 1
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:16788709
RGD:1625735
NCBI chr 8:46,924,214...46,989,088
Ensembl chr 8:46,924,074...46,989,088
G
Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
CTD Direct Evidence: therapeutic associated with Hypertension
CTD RGD
PMID:18931039 PMID:21484566 PMID:16041833 PMID:23089228 PMID:21872431
RGD:1599150 , RGD:8695951 , RGD:8695928
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adipor1
adiponectin receptor 1
resistance
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C
RGD
PMID:17285539
RGD:1625762
NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
G
Adipor2
adiponectin receptor 2
treatment
ISO
RGD
PMID:30225267 PMID:24797033
RGD:21406435 , RGD:25824940
NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665
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Adm
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33491863
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
G
Adora1
adenosine A1 receptor
treatment
ISO
associated with Obesity
RGD
PMID:11703426 PMID:15220221
RGD:2313807 , RGD:1625243
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Adra1b
adrenergic receptor, alpha 1b
susceptibility
IAGP
RGD
PMID:14581480
RGD:1625772
NCBI chr11:43,665,432...43,792,076
Ensembl chr11:43,665,433...43,792,037
G
Adrb2
adrenergic receptor, beta 2
ISO
DNA:polymorphism: :p.R16G CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19034036 PMID:15699455 PMID:11510954
RGD:1601125 , RGD:1598757
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
G
Adrb3
adrenergic receptor, beta 3
no_association
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human) associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD
PMID:10421225 PMID:17299491 PMID:10582543
RGD:1559326 , RGD:2313158 , RGD:5684421
NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
G
Agtr2
angiotensin II receptor, type 2
ISO
protein:increased expression:dorsal root ganglion, neuron
RGD
PMID:22357959
RGD:6903873
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
G
Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25734695
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
G
Ahsg
alpha-2-HS-glycoprotein
susceptibility
IAGP ISO
protein:increased expression:plasma
RGD
PMID:17011519 PMID:16567827
RGD:1625793 , RGD:1625794
NCBI chr16:22,710,793...22,718,193
Ensembl chr16:22,710,027...22,718,199
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Akt2
thymoma viral proto-oncogene 2
no_association
ISO
DNA:SNPs
RGD
PMID:17327441
RGD:1601155
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Aldh2
aldehyde dehydrogenase 2, mitochondrial
treatment
ISO
protein:altered expression, altered activity:liver (rat)
RGD
PMID:28688179
RGD:14981582
NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
G
Alox15
arachidonate 15-lipoxygenase
IMP
RGD
PMID:19787041
RGD:5509625
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
G
Ankrd26
ankyrin repeat domain 26
IMP
RGD
PMID:18162531
RGD:9681744
NCBI chr 6:118,478,261...118,539,244
Ensembl chr 6:118,478,269...118,539,187
G
Apln
apelin
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:17594060
RGD:1626170
NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730
G
Apoa2
apolipoprotein A-II
IMP
RGD
PMID:11246886
RGD:2313957
NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
G
Apoc1
apolipoprotein C-I
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11723061
RGD:2313951
NCBI chr 7:19,423,405...19,426,584
Ensembl chr 7:19,423,406...19,426,585
G
Apoc3
apolipoprotein C-III
susceptibility treatment
IAGP ISO
RGD
PMID:15734841 PMID:15007394
RGD:1601226 , RGD:1580750
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
G
Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD RGD
PMID:21444647 PMID:17332526 PMID:16793958
RGD:1601244 , RGD:2306773
NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821
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Arg1
arginase, liver
ISO
protein:decreased activity:liver (rat)
RGD
PMID:20593143
RGD:4142796
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
G
As3mt
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr19:46,695,124...46,729,538
Ensembl chr19:46,695,897...46,729,538
G
Atm
ataxia telangiectasia mutated
treatment
ISO
protein:decreased expression:muscle: Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)
RGD
PMID:18534819 PMID:23171036
RGD:8693659 , RGD:126781688
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
G
Atp1a2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:14576983
RGD:1601252
NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631
G
Bad
BCL2-associated agonist of cell death
ISO
protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart
RGD
PMID:21385329
RGD:10053645
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
G
Bche
butyrylcholinesterase
ISO
RGD
PMID:17917325
RGD:2306776
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
G
Bdkrb1
bradykinin receptor, beta 1
ISO
RGD
PMID:17618300 PMID:17988733
RGD:5129217 , RGD:5129214
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
RGD
PMID:25934999
RGD:11085488
NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
G
C1ra
complement component 1, r subcomponent A
ISO
protein:increased expression:adipocyte
RGD
PMID:17244723
RGD:1600551
NCBI chr 6:124,489,580...124,500,399
Ensembl chr 6:124,489,364...124,500,402
G
C1rb
complement component 1, r subcomponent B
ISO
protein:increased expression:adipocyte
RGD
PMID:17244723
RGD:1600551
NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130
G
C3
complement component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18615583
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
Capn10
calpain 10
ISO
DNA:SNP:intron:rs3792267 (human)
RGD
PMID:11018080
RGD:7247736
NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
G
Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22325453
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
G
Casp3
caspase 3
treatment
ISO
RGD
PMID:29748970
RGD:13782289
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
G
Casp8
caspase 8
ISO
RGD
PMID:29748970
RGD:13782289
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
G
Cat
catalase
ISO
associated with Obesity
RGD
PMID:19188683
RGD:5130761
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
G
Cblb
Casitas B-lineage lymphoma b
IAGP
RGD
PMID:17601987
RGD:2314038
NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO IMP
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29035695 PMID:18762729 PMID:22983634
RGD:2306985 , RGD:8548844
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Cd163
CD163 antigen
exacerbates
ISO
CTD Direct Evidence: marker/mechanism associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
CTD RGD
PMID:29035695 PMID:26554542
RGD:149735574
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
G
Cd36
CD36 molecule
ISO IMP
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 2
CTD RGD
PMID:14640889 PMID:11175782 PMID:25477422 PMID:12923231 PMID:15231693
RGD:68930 , RGD:11041132 , RGD:11040926 , RGD:2307217
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
G
Cd40
CD40 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
G
Cd68
CD68 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979
G
Cers1
ceramide synthase 1
ameliorates
IMP
RGD
PMID:30605666
RGD:156431060
NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
G
Cnr1
cannabinoid receptor 1
ISO
associated with Obesity
RGD
PMID:19553924
RGD:2314662
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
G
Cntf
ciliary neurotrophic factor
TAS
possible therapeutic agent
RGD
PMID:16675997
RGD:1626122
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
G
Coq2
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
ISO
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr 5:100,802,589...100,822,154
Ensembl chr 5:100,802,589...100,823,006
G
Cpb2
carboxypeptidase B2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
RGD
PMID:11836301
RGD:2313645
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
G
Cpe
carboxypeptidase E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15358678
NCBI chr 8:65,045,576...65,146,143
Ensembl chr 8:65,045,576...65,146,088
G
Cst3
cystatin C
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19765773
RGD:2314305
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
G
Ctf1
cardiotrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21803294
NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
G
Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS: rs12794714|rs10766197 (human)
RGD
PMID:34906413
RGD:401900724
NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
G
Dgat2
diacylglycerol O-acyltransferase 2
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr 7:98,802,870...98,831,920
Ensembl chr 7:98,802,865...98,831,926
G
Dio2
deiodinase, iodothyronine, type II
ISO
DNA:SNP: :rs225014, p.T92A (human)
RGD
PMID:11872697
RGD:2313698
NCBI chr12:90,691,326...90,705,812
Ensembl chr12:90,691,326...90,705,812
G
Drd1
dopamine receptor D1
ISO
associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule
RGD
PMID:15798088
RGD:2302119
NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
G
Ech1
enoyl coenzyme A hydratase 1, peroxisomal
treatment
IDA
RGD
PMID:31961704
RGD:21408561
NCBI chr 7:28,524,763...28,531,664
Ensembl chr 7:28,524,642...28,531,672
G
Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22238402
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
DNA:polymorphism:K121Q ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar RGD
PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20981035 PMID:25741868 PMID:27238374 PMID:28492532 PMID:29979387 PMID:35738466 PMID:10480624 More...
RGD:1601043
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
G
F7
coagulation factor VII
severity
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:9187410
RGD:2312406
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
G
Fabp2
fatty acid binding protein 2, intestinal
no_association
ISO
DNA:SNP:CDS:p.A54T (human) ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge DNA:polymorphism:CDS:p.A54T (human)
ClinVar RGD
PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 PMID:14666368 PMID:15572430 PMID:7883976 PMID:16311100 PMID:17211557 PMID:14981227 More...
RGD:1300314 , RGD:1578456 , RGD:1626407 , RGD:1626400
NCBI chr 3:122,688,721...122,693,155
Ensembl chr 3:122,688,721...122,693,155
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Fabp3
fatty acid binding protein 3, muscle and heart
severity
IAGP
RGD
PMID:16249436
RGD:1578459
NCBI chr 4:130,202,531...130,209,256
Ensembl chr 4:130,202,388...130,209,256
G
Fabp4
fatty acid binding protein 4, adipocyte
ISO
RGD
PMID:17391165
RGD:1625407
NCBI chr 3:10,269,406...10,273,653
Ensembl chr 3:10,269,148...10,273,636
G
Fanca
Fanconi anemia, complementation group A
IMP
RGD
PMID:22482891
RGD:11046266
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
G
Fancc
Fanconi anemia, complementation group C
IMP
RGD
PMID:22482891
RGD:11046266
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
G
Fas
Fas cell surface death receptor
treatment
ISO
associated with hypothalamic disease
RGD
PMID:29522769
RGD:13792596
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Fasn
fatty acid synthase
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
G
Fgf15
fibroblast growth factor 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690
G
Fis1
fission, mitochondrial 1
ISO
protein:increased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088
G
Foxc2
forkhead box C2
ISO
DNA:polymorphism:5'ut:-512C>T
RGD
PMID:12453913
RGD:1601219
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
G
Foxo1
forkhead box O1
ISO
mRNA:increased expression:adipose tissue:
RGD
PMID:16041833
RGD:1599150
NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642
G
Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
associated with diabetes mellitus;DNA:SNP: :rs9939609 (human) mRNA, protein:increased expression:liver DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human) associated with obesity;DNA:SNP:intron:rs17817449 (human)
RGD
PMID:30273662 PMID:35945320 PMID:20075932 PMID:21919686
RGD:329812018 , RGD:329951016 , RGD:329853775 , RGD:329812040
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
G
Fxn
frataxin
ISO
DNA:repeats:intron:GAA (human)
RGD
PMID:10969848
RGD:2307049
NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
ISO
associated with Obesity;protein:increased expression:pancreas
RGD
PMID:23015612
RGD:10449129
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
G
Gck
glucokinase
ISO
protein:increased expression:pancreatic islet
RGD
PMID:19039094
RGD:7488970
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
G
Gfpt1
glutamine fructose-6-phosphate transaminase 1
ISO
RGD
PMID:11118009
RGD:1625423
NCBI chr 6:87,019,828...87,069,189
Ensembl chr 6:87,019,828...87,069,179
G
Gh
growth hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21559284
NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691
G
Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17062894
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
G
Gnb3
guanine nucleotide binding protein (G protein), beta 3
ISO
DNA:polymorphism: :825C>T (human)
RGD
PMID:12624279
RGD:1580411
NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238
G
Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr19:55,056,067...55,115,666
Ensembl chr19:55,055,700...55,115,670
G
Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:32,076,052...32,082,925
Ensembl chr18:32,076,050...32,082,689
G
Gpx3
glutathione peroxidase 3
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:19270708 PMID:24361363
RGD:401827920
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
G
Grk2
G protein-coupled receptor kinase 2
IDA
RGD
PMID:15994203
RGD:1625791
NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250
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Gsta4
glutathione S-transferase, alpha 4
ISO
mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)
RGD
PMID:20150287
RGD:5687771
NCBI chr 9:78,099,248...78,116,631
Ensembl chr 9:78,090,056...78,116,631
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Gys1
glycogen synthase 1, muscle
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)
RGD
PMID:9267990
RGD:2313176
NCBI chr 7:45,084,263...45,106,041
Ensembl chr 7:45,084,268...45,106,043
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Hamp
hepcidin antimicrobial peptide
ISO
mRNA:decreased expression:liver
RGD
PMID:17350134
RGD:1601515
NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
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Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr17:27,774,798...27,782,649
Ensembl chr17:27,775,471...27,782,648
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:18375438 PMID:19171794 PMID:12941774
RGD:1601621
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hnf1a
HNF1 homeobox A
ISO
mRNA:decreased expression:adipocyte ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF
ClinVar RGD
PMID:8945470 PMID:9112026 PMID:9287053 PMID:9604876 PMID:10333057 PMID:10588527 PMID:10634407 PMID:10852449 PMID:12627330 PMID:12675668 PMID:12788852 PMID:15031772 PMID:15761192 PMID:15928245 PMID:16963153 PMID:17033837 PMID:17192490 PMID:17407072 PMID:17425917 PMID:17440016 PMID:17573900 PMID:17937063 PMID:18332101 PMID:18498634 PMID:18811724 PMID:20031592 PMID:24728327 PMID:24933231 PMID:25741868 PMID:26467025 PMID:27130141 PMID:28492532 PMID:29895593 PMID:31109344 PMID:33363396 PMID:35328643 PMID:15094374 More...
RGD:1601482
NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21786805
NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
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Hspd1
heat shock protein 1 (chaperonin)
ISO
RGD
PMID:18948349
RGD:10402862
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
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Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
ISO
associated with Peripheral Vascular Diseases
RGD
PMID:17062970
RGD:1624367
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
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Icam1
intercellular adhesion molecule 1
ISO
associated with Obesity;protein:increased secretion:plasma (human) protein:increased expression:serum
RGD
PMID:11782876 PMID:19394054
RGD:1625753 , RGD:2313467
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Igf2bp2
insulin-like growth factor 2 mRNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr16:21,877,759...21,982,049
Ensembl chr16:21,877,759...21,982,049
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17726072
NCBI chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984
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Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22537059 PMID:17259371
RGD:1626479
NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:17237715
RGD:2313762
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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Igfbp6
insulin-like growth factor binding protein 6
ISO
human transgene overexpressed in mouse brain
RGD
PMID:15889232
RGD:2301717
NCBI chr15:102,052,621...102,057,947
Ensembl chr15:102,052,797...102,057,946
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Igfbp7
insulin-like growth factor binding protein 7
ISO IMP
protein:increased expression:serum associated with metabolic dysfunction-associated steatotic liver disease
RGD
PMID:16873698 PMID:31397492
RGD:1626516 , RGD:401960873
NCBI chr 5:77,497,092...77,555,892
Ensembl chr 5:77,497,087...77,555,888
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Ikbkb
inhibitor of kappaB kinase beta
treatment
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29036520 PMID:19073766 PMID:11533494
RGD:7495768 , RGD:10045961
NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605
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Il18
interleukin 18
treatment
ISO IMP
associated with Graves Disease
RGD
PMID:23257837 PMID:16732281
RGD:8655938 , RGD:14695532
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
treatment
IEP ISO
associated with Obesity;mRNA:increased expression:adipose tissue associated with hypothalamic disease
RGD
PMID:16865359 PMID:29522769
RGD:1626632 , RGD:13792596
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) mRNA:increased expression:islet of Langerhans
RGD
PMID:19328014 PMID:21826222
RGD:2307252 , RGD:10402828
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6ra
interleukin 6 receptor, alpha
ISO
protein:decreased expression:serum
RGD
PMID:14962155
RGD:1625431
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Il7
interleukin 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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Inppl1
inositol polyphosphate phosphatase-like 1
ISO
associated with Metabolic Syndrome X
RGD
PMID:17327370 PMID:12453826
RGD:2312440 , RGD:2312442
NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
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Ins1
insulin I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19586609
NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914
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Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899 PMID:3322910
RGD:2311112
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Insr
insulin receptor
disease_progression treatment
IMP ISO
ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A mRNA, protein:decreased expression:liver (rat) CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1314826 PMID:1644241 PMID:1890161 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544997 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8202531 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:10949030 PMID:11463381 PMID:11887975 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 PMID:10949030 PMID:26300412 PMID:23538485 More...
RGD:1302523 , RGD:11529553 , RGD:10403037
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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Irs1
insulin receptor substrate 1
ISO
DNA:polymorphism:exon:G972R CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD ClinVar RGD
PMID:1311924 PMID:7623569 PMID:8104271 PMID:8647950 PMID:10084586 PMID:10430617 PMID:10591678 PMID:10843189 PMID:12843189 PMID:14671192 PMID:14707024 PMID:15240653 PMID:19734900 PMID:7623569 More...
RGD:1624973
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
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Irs2
insulin receptor substrate 2
ISO
DNA:polymorphism:exon:G1057D CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25808216 PMID:15811564
RGD:1625025
NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
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Itgam
integrin alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032110
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
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Kcnmb1
potassium large conductance calcium-activated channel, subfamily M, beta member 1
ISO
mRNA, protein:decreased expression:aorta, mesenteric artery
RGD
PMID:21425425
RGD:10412047
NCBI chr11:33,912,955...33,923,641
Ensembl chr11:33,913,013...33,923,641
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Klf11
Kruppel-like transcription factor 11
ISO
RGD
PMID:18505768
RGD:2311539
NCBI chr12:24,701,370...24,712,781
Ensembl chr12:24,701,273...24,712,788
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Klf14
Kruppel-like transcription factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29632379
NCBI chr 6:30,932,956...30,935,925
Ensembl chr 6:30,932,958...30,936,013
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Klk1
kallikrein 1
ISO
RGD
PMID:17272402
RGD:1641794
NCBI chr 7:43,874,784...43,879,046
Ensembl chr 7:43,874,784...43,879,042
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Lep
leptin
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic DNA:nonsense mutation:cds: associated with Obesity
CTD RGD
PMID:10753628 PMID:11342529 PMID:24150608 PMID:29650965 PMID:19296906 PMID:23800849 PMID:19419916 More...
RGD:5128697 , RGD:8549777 , RGD:2311127
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lepr
leptin receptor
ISO
associated with Obesity;DNA:polymorphism: :p.K656N (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD RGD
PMID:19452630 PMID:20567778 PMID:25367288 PMID:28611668 PMID:29988851 PMID:30689673 PMID:18413223 PMID:23154293 PMID:18632178 More...
RGD:2311142 , RGD:13432147 , RGD:2311138
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lipc
lipase, hepatic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15504970
NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
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Lmna
lamin A
ISO
ClinVar Annotator: match by term: Insulin-resistance syndrome type A
ClinVar
PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr12:16,585,670...16,697,020
Ensembl chr12:16,585,670...16,696,967
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Lpl
lipoprotein lipase
IAGP
RGD
PMID:18952837
RGD:2313300
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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Lta
lymphotoxin A
no_association
ISO
DNA:polymorphism
RGD
PMID:9245742
RGD:1625035
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mapk3
mitogen-activated protein kinase 3
treatment
ISO
associated with polycystic ovary syndrome
RGD
PMID:23349861
RGD:13800789
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:liver (rat) DNA:nonsense mutation:cds:p.K314X (rat)
CTD RGD
PMID:18454146 PMID:35945320 PMID:24400148
RGD:329951016 , RGD:13825242
NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
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Metrnl
meteorin, glial cell differentiation regulator-like
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30213948
NCBI chr11:121,593,253...121,608,215
Ensembl chr11:121,592,370...121,607,132
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 3:123,161,944...123,179,639
Ensembl chr 3:123,161,946...123,179,757
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Mfn2
mitofusin 2
treatment
ISO
RGD
PMID:24715199
RGD:13204838
NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
protein:increased expression:plasma
RGD
PMID:12552367
RGD:1641955
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mir125a
microRNA 125a
IMP
RGD
PMID:31988048
RGD:21403676
NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141
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Mir155
microRNA 155
ISO IMP
miRNA:increased expression:serum
RGD
PMID:29479888 PMID:27711113
RGD:24922220 , RGD:25671464
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir222
microRNA 222
ISO
associated with polycystic ovary syndrome; RNA:increased expression:blood
RGD
PMID:33230470
RGD:151893462
NCBI chr X:19,013,132...19,013,210
Ensembl chr X:19,013,132...19,013,210
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Mlxipl
MLX interacting protein-like
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236
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Mlycd
malonyl-CoA decarboxylase
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr 8:120,121,591...120,148,577
Ensembl chr 8:120,121,617...120,137,841
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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
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n-TUtca2
nuclear encoded tRNA selenocysteine 2 (anticodon TCA)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28228267
NCBI chr 7:19,035,169...19,035,255
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Nampt
nicotinamide phosphoribosyltransferase
ISO
associated with Polycystic Ovary Syndrome;protein:increased expression:serum
RGD
PMID:17582143
RGD:1642341
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
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Neil1
nei endonuclease VIII-like 1 (E. coli)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21285402
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
associated with obesity; protein:decreased expression:hepatocyte: CTD Direct Evidence: therapeutic
CTD RGD
PMID:33933676 PMID:32102936
RGD:21201281
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Nos2
nitric oxide synthase 2, inducible
ISO IMP
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)
RGD
PMID:22023455 PMID:21846719
RGD:5509041 , RGD:5509075
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:11457755 PMID:12716763 PMID:12947532 PMID:19008412 PMID:18298918 PMID:28946194 More...
RGD:2292098 , RGD:13450950
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nppb
natriuretic peptide type B
ISO
associated with Obesity and Hypertension;protein:decreased expression:serum
RGD
PMID:17392814
RGD:1642192
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
susceptibility
IAGP
RGD
PMID:16557297
RGD:1625076
NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr10:52,293,643...52,316,288
Ensembl chr10:52,293,643...52,316,279
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Parl
presenilin associated, rhomboid-like
ISO
mRNA:decreased expression:gastrocnemius (rat)
RGD
PMID:19859837
RGD:12880442
NCBI chr16:20,098,570...20,121,090
Ensembl chr16:20,098,568...20,121,137
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Pdx1
pancreatic and duodenal homeobox 1
IEP ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse) protein:increased expression:pancreatic duct (rat)
RGD
PMID:18288891 PMID:16046294
RGD:2311222 , RGD:2311223
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
IAGP ISO
CTD Direct Evidence: marker/mechanism associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD RGD
PMID:14714311 PMID:17283057 PMID:16332940 PMID:10426374
RGD:1625211 , RGD:1625212 , RGD:1625262
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Pklr
pyruvate kinase liver and red blood cell
treatment
IEP ISO
mRNA, protein:decreased expression:liver
RGD
PMID:12958186 PMID:26394137
RGD:1625583 , RGD:329955565
NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091
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Pla2g1b
phospholipase A2, group IB, pancreas
susceptibility
IMP
RGD
PMID:12376327
RGD:1302550
NCBI chr 5:115,604,201...115,612,781
Ensembl chr 5:115,604,321...115,612,781
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Plac8
placenta-specific 8
ISO
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr 5:100,699,455...100,720,119
Ensembl chr 5:100,701,591...100,720,111
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Plekhs1
pleckstrin homology domain containing, family S member 1
ISO
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr19:56,445,705...56,475,161
Ensembl chr19:56,450,072...56,475,184
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Plin2
perilipin 2
IDA
associated with Obesity
RGD
PMID:17484887
RGD:1625752
NCBI chr 4:86,545,147...86,588,518
Ensembl chr 4:86,566,623...86,588,297
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Pltp
phospholipid transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754275
NCBI chr 2:164,681,441...164,699,564
Ensembl chr 2:164,681,438...164,699,631
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Pmch
pro-melanin-concentrating hormone
ISO
RGD
PMID:16002548
RGD:1642484
NCBI chr10:87,926,934...87,928,236
Ensembl chr10:87,926,934...87,928,237
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Pon1
paraoxonase 1
ISO
DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001)
RGD
PMID:11788650
RGD:1642617
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Ppara
peroxisome proliferator activated receptor alpha
IDA ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21324916 PMID:19322024
RGD:5683642
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Ppard
peroxisome proliferator activator receptor delta
IDA
associated with Diabetes Mellitus, Non-Insulin-Dependent associated with Obesity
RGD
PMID:19818749 PMID:14676330
RGD:2313780 , RGD:2324897
NCBI chr17:28,451,715...28,520,446
Ensembl chr17:28,451,674...28,520,448
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Pparg
peroxisome proliferator activated receptor gamma
ISO
DNA:nonsense mutation CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21354099 PMID:21484566 PMID:12118251
RGD:1601446
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
treatment
ISO
DNA:missense mutation:cds:p.G482S rs8192678 (human) mRNA:decreased expression:liver (rat)
RGD
PMID:23449621 PMID:26394137 PMID:22658649
RGD:7241821 , RGD:329955565 , RGD:7242170
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Ppargc1b
peroxisome proliferative activated receptor, gamma, coactivator 1 beta
treatment
ISO
RGD
PMID:16896940 PMID:26394137
RGD:1642499 , RGD:329955565
NCBI chr18:61,424,516...61,533,846
Ensembl chr18:61,431,207...61,533,502
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Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
DNA:polymorphism:exon:p.D905Y (human) ClinVar Annotator: match by term: Insulin resistance, susceptibility to DNA:nonsense mutation
ClinVar RGD
PMID:7581368 PMID:25741868 PMID:7581368 PMID:12118251
RGD:1601468 , RGD:1601446
NCBI chr 6:14,713,821...14,755,273
Ensembl chr 6:14,713,976...14,755,273
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Prdx3
peroxiredoxin 3
ISO
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994
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Prkaa1
protein kinase, AMP-activated, alpha 1 catalytic subunit
ISO
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:22231922
RGD:6484545
NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380
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Prkaa2
protein kinase, AMP-activated, alpha 2 catalytic subunit
susceptibility
ISO
DNA:SNPs CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:16567511
RGD:1625266
NCBI chr 4:104,886,846...104,967,095
Ensembl chr 4:104,887,071...104,967,087
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Prkar1a
protein kinase, cAMP dependent regulatory, type I, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
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Prkcb
protein kinase C, beta
ISO
RGD
PMID:12665248
RGD:1625515
NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625
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Prkcd
protein kinase C, delta
ISO IMP
protein:altered localization:nucleus associated with Obesity;protein:increased activity:adipocyte
RGD
PMID:12217885 PMID:15507533
RGD:729667 , RGD:1642527
NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167
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Prkcq
protein kinase C, theta
ISO
associated with Obesity;protein:decreased expression:skeletal muscle protein:altered localization:skeletal muscle
RGD
PMID:10923637 PMID:9000691
RGD:1625603 , RGD:1625604
NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033
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Prkcz
protein kinase C, zeta
ISO
RGD
PMID:12882908
RGD:1642650
NCBI chr 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818
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Prkd1
protein kinase D1
susceptibility
ISO
human gene in a mouse model
RGD
PMID:25173922
RGD:307436943
NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881
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Prl
prolactin
ISO
associated with Hyperprolactinemia
RGD
PMID:3888755
RGD:1642560
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
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Prmt7
protein arginine N-methyltransferase 7
ISO
ClinVar Annotator: match by term: Insulin resistance
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
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Pten
phosphatase and tensin homolog
ISO
protein:increased expression, decreased acetylation:liver protein:increased activity:liver (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18303120 PMID:18385463 PMID:24367090
RGD:2292521 , RGD:127285595
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgds
prostaglandin D2 synthase (brain)
susceptibility
IAGP
RGD
PMID:15970590
RGD:1642581
NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058
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Ptgis
prostaglandin I2 (prostacyclin) synthase
ISO
protein:decreased activity:aorta (rat)
RGD
PMID:16528409
RGD:401960098
NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524
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Ptk2b
PTK2 protein tyrosine kinase 2 beta
IAGP
associated with Obesity
RGD
PMID:16039993
RGD:1642605
NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
DNA:insertion:3'utr:1484insG associated with congestive heart failure;protein:increased expression, increased activity:heart (rat) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD ClinVar RGD
PMID:10744717 PMID:11833006 PMID:11833006 PMID:29929988
RGD:1625240 , RGD:401965403
NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305
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Ptprf
protein tyrosine phosphatase receptor type F
ISO
mouse model overexpressing human transgene
RGD
PMID:11309481 PMID:9218523
RGD:1642735 , RGD:1642733
NCBI chr 4:118,065,410...118,148,602
Ensembl chr 4:118,065,410...118,148,602
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Pyy
peptide YY
ISO
protein:decreased expression
RGD
PMID:17045646
RGD:1625281
NCBI chr11:101,997,502...101,998,658
Ensembl chr11:101,997,502...101,998,658
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Rb1
RB transcriptional corepressor 1
ISO
mRNA:decreased expression:adipose tissue
RGD
PMID:23315497
RGD:8547988
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rbp4
retinol binding protein 4, plasma
disease_progression ameliorates
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:29747616 PMID:21365528
RGD:329849113 , RGD:329853304
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
IEP ISO
protein:altered localization:soleus
RGD
PMID:18198644 PMID:18073321
RGD:2298857 , RGD:2298860
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16493877 PMID:18789551
RGD:2313499
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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Rrad
Ras-related associated with diabetes
ISO
RGD
PMID:16537411
RGD:2311703
NCBI chr 8:105,354,702...105,357,921
Ensembl chr 8:105,354,702...105,357,959
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Scd1
stearoyl-Coenzyme A desaturase 1
treatment
EXP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:21661758 PMID:26394137
RGD:329955565
NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14714311
NCBI chr15:3,300,249...3,309,992
Ensembl chr15:3,298,029...3,309,990
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
mRNA:increased expression:white adipose tissue (rat)
RGD
PMID:19776253 PMID:26188590
RGD:8547949 , RGD:11073726
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
associated with Hypertension human protein in a rat model
RGD
PMID:19073347 PMID:22714715 PMID:24288442
RGD:2312339 , RGD:8655563 , RGD:8642993
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Shc1
src homology 2 domain-containing transforming protein C1
ISO
mRNA:increased expression:adipose tissue
RGD
PMID:17986714
RGD:1643171
NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
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Sirt1
sirtuin 1
treatment
ISO
associated with Obesity CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 PMID:26026874 PMID:19996381 More...
RGD:9585759
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Sirt4
sirtuin 4
ISO
RGD
PMID:20651844
RGD:9586052
NCBI chr 5:115,616,065...115,628,322
Ensembl chr 5:115,616,069...115,622,784
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Sis
sucrase isomaltase
ISO
associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine
RGD
PMID:9878708
RGD:1625544
NCBI chr 3:72,795,890...72,875,196
Ensembl chr 3:72,795,890...72,875,196
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Slc27a1
solute carrier family 27 (fatty acid transporter), member 1
ISO
protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet
RGD
PMID:17400720
RGD:1642795
NCBI chr 8:72,021,372...72,039,951
Ensembl chr 8:72,021,526...72,039,946
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Slc27a4
solute carrier family 27 (fatty acid transporter), member 4
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:15168018
RGD:1625638
NCBI chr 2:29,692,646...29,707,534
Ensembl chr 2:29,692,646...29,707,534
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Slc2a3
solute carrier family 2 (facilitated glucose transporter), member 3
ISO
RGD
PMID:11436180
RGD:1642802
NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599
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Slc2a4
solute carrier family 2 (facilitated glucose transporter), member 4
ISO
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle CTD Direct Evidence: therapeutic
CTD RGD
PMID:11947963 PMID:18778861
RGD:2313624
NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014
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Socs1
suppressor of cytokine signaling 1
IMP
associated with Diabetes Mellitus
RGD
PMID:15240880
RGD:1625677
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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Socs3
suppressor of cytokine signaling 3
susceptibility
IMP IAGP
associated with Diabetes Mellitus associated with Obesity
RGD
PMID:15240880 PMID:17295835
RGD:1625677 , RGD:2313789
NCBI chr11:117,856,905...117,860,192
Ensembl chr11:117,856,905...117,860,873
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22829583
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sod3
superoxide dismutase 3, extracellular
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:15171689
RGD:1625698
NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760
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Sorbs1
sorbin and SH3 domain containing 1
susceptibility
IAGP
RGD
PMID:17351624
RGD:1642731
NCBI chr19:40,280,484...40,502,399
Ensembl chr19:40,283,197...40,502,223
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Sox6
SRY (sex determining region Y)-box 6
IDA
RGD
PMID:16148004
RGD:1581307
NCBI chr 7:115,070,107...115,639,186
Ensembl chr 7:115,070,107...115,638,031
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Sqstm1
sequestosome 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33933676
NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654
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Srebf1
sterol regulatory element binding transcription factor 1
susceptibility treatment
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP CTD Direct Evidence: marker/mechanism associated with Fatty Liver;mRNA:increased expression:liver
CTD RGD
PMID:22658938 PMID:18692268 PMID:26394137 PMID:17241878
RGD:2308809 , RGD:329955565 , RGD:2308807
NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
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Srebf2
sterol regulatory element binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20699619
NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580
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Stk11
serine/threonine kinase 11
ISO
associated with obesity;protein:decreased expression:gastrocnemius
RGD
PMID:16352671
RGD:1601389
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Sts
steroid sulfatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:168,856,332...169,015,037
Ensembl chr X:168,909,030...169,014,924
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Syn1
synapsin I
ISO
RGD
PMID:29566703
RGD:13542091
NCBI chr X:20,726,750...20,787,157
Ensembl chr X:20,726,750...20,787,243
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Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Insulin resistance
ClinVar
NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
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Tcf7l2
transcription factor 7 like 2, T cell specific, HMG box
ISO
DNA:SNP (human)
RGD
PMID:19509102
RGD:2312433
NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086
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Tfap2b
transcription factor AP-2 beta
ISO
RGD
PMID:16373417
RGD:1601544
NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800
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Thbd
thrombomodulin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11453033
RGD:2312460
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tlr4
toll-like receptor 4
severity
IAGP ISO
associated with Obesity protein:increased expression:skeletal muscle
RGD
PMID:19675137 PMID:17426960 PMID:18633101
RGD:2312483 , RGD:1620681 , RGD:2312489
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnf
tumor necrosis factor
treatment
ISO
associated with obesity CTD Direct Evidence: marker/mechanism associated with Obesity
CTD RGD
PMID:16493877 PMID:20943792 PMID:14764603 PMID:9832430 PMID:25016878
RGD:1580214 , RGD:14995428 , RGD:10450578
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
ISO
associated with obesity;protein:increased expression:serum
RGD
PMID:15936463
RGD:1620889
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression
RGD
PMID:11882518
RGD:1624180
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Trf
transferrin
ISO
protein:increased expression:plasma
RGD
PMID:17350134
RGD:1601515
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20461355
NCBI chr 2:152,179,345...152,185,980
Ensembl chr 2:152,179,342...152,185,952
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Tsc1
TSC complex subunit 1
IAGP
RGD
PMID:15380067
RGD:1624197
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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Ucp1
uncoupling protein 1 (mitochondrial, proton carrier)
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human)
RGD
PMID:16338218
RGD:1624979
NCBI chr 8:84,016,977...84,025,085
Ensembl chr 8:84,016,981...84,025,081
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
RGD
PMID:17870627
RGD:2313512
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
ISO
DNA:polymorphism:promoter:-55C>T (human)
RGD
PMID:17870627 PMID:17571165
RGD:2313512 , RGD:2313515
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
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Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:11882338
RGD:1580351
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
IMP
RGD
PMID:25801026
RGD:14402022
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Vwf
Von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16631442
RGD:1625711
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Xbp1
X-box binding protein 1
treatment
IMP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:27325692 PMID:15486293 PMID:26394137
RGD:2326004 , RGD:329955565
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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Zc3h10
zinc finger CCCH type containing 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31775033
NCBI chr10:128,379,429...128,383,877
Ensembl chr10:128,377,832...128,383,643
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544997 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:11463381 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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Lmna
lamin A
ISO
ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar
PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Adm
adrenomedullin
ISO
protein:increased expression:pancreas, plasma
RGD
PMID:11331218
RGD:2325319
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Btc
betacellulin, epidermal growth factor family member
ISO
protein:increased expression:pancreas
RGD
PMID:10724350
RGD:2326087
NCBI chr 5:91,505,120...91,550,853
Ensembl chr 5:91,505,120...91,550,853
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Cd40
CD40 antigen
IMP
RGD
PMID:17982058
RGD:5491180
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cux1
cut-like homeobox 1
disease_progression exacerbates
IEP ISO
mRNA:increased expression:pancreas (mouse) protein:increased expression:pancreas (human)
RGD
PMID:25248790 PMID:25248790
RGD:152985543 , RGD:152985543
NCBI chr 5:136,276,989...136,596,429
Ensembl chr 5:136,276,989...136,596,344
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
protein:increased expression:pancreas
RGD
PMID:19013212
RGD:2317608
NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328
G
Ins2
insulin II
ISO
protein:altered expression:blood protein:altered localization:pancreas
RGD
PMID:8175958 PMID:2565624
RGD:2317266 , RGD:2317268
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
G
Men1
multiple endocrine neoplasia 1
disease_progression
IMP ISO
DNA:deletions:exons CTD Direct Evidence: marker/mechanism DNA:deletion:exon
CTD RGD
PMID:17961653 PMID:19208834 PMID:12941803 PMID:20138042
RGD:2317310 , RGD:2317292 , RGD:2317288
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Ncam1
neural cell adhesion molecule 1
ISO
protein:increased expression:pancreas
RGD
PMID:8972754
RGD:2326080
NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225
G
Rps15
ribosomal protein S15
ISO
RGD
PMID:3019805
RGD:61740
NCBI chr10:80,128,265...80,129,948
Ensembl chr10:80,128,287...80,129,948
G
Slc2a2
solute carrier family 2 (facilitated glucose transporter), member 2
ISO
protein:increased expression:pancreatic B cell mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
G
Tgfa
transforming growth factor alpha
ISO
protein:increased expression:pancreas
RGD
PMID:8712689
RGD:2317472
NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701
G
Tgfb1
transforming growth factor, beta 1
ISO
mRNA, protein:decreased expression:pancreatic islet
RGD
PMID:18058603
RGD:2325017
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
G
Mafa
MAF bZIP transcription factor A
ISO
ClinVar Annotator: match by term: Islet cell adenomatosis
OMIM ClinVar
PMID:25741868 PMID:29339498 PMID:35406570
NCBI chr15:75,617,350...75,620,170
Ensembl chr15:75,617,339...75,620,077
G
Atrx
ATRX, chromatin remodeler
disease_progression
ISO
protein:decreased expression:pancreas:
RGD
PMID:24148618
RGD:9586032
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
G
Cdk4
cyclin dependent kinase 4
ISO
protein:increased expression:pancreas, islet of Langerhans (human)
RGD
PMID:22761470
RGD:13452384
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
G
Daxx
Fas death domain-associated protein
disease_progression
ISO
RGD
PMID:21252315
RGD:9587819
NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
G
Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
protein:increased expression:insulinoma (rat)
RGD
PMID:7925129
RGD:2308920
NCBI chr13:75,237,407...75,282,980
Ensembl chr13:75,237,945...75,282,980
G
Fntb
farnesyltransferase, CAAX box, beta
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:25741868
NCBI chr12:76,884,014...76,968,188
Ensembl chr12:76,812,363...76,968,186
G
Max
Max protein
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 PMID:26269449 PMID:26467025 PMID:27838885 PMID:28492532 PMID:28552549 PMID:34130653 More...
NCBI chr12:76,984,045...77,009,123
Ensembl chr12:76,984,043...77,008,975
G
Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699
G
Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7704557 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9263528 PMID:9452077 PMID:9606292 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10076558 PMID:10369718 PMID:10445857 PMID:10679286 PMID:10826520 PMID:10876191 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11436122 PMID:11732489 PMID:11788682 PMID:11939755 PMID:11955539 PMID:12000816 PMID:12019403 PMID:12193298 PMID:12410354 PMID:14627689 PMID:14633923 PMID:15184865 PMID:15277225 PMID:15320968 PMID:15331579 PMID:15386323 PMID:15472167 PMID:15741265 PMID:15834508 PMID:15858153 PMID:16343097 PMID:16715139 PMID:16849421 PMID:16865647 PMID:16868135 PMID:17032739 PMID:17047083 PMID:17108110 PMID:17108762 PMID:17316110 PMID:17466010 PMID:17540634 PMID:17664273 PMID:17895320 PMID:17898100 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18299477 PMID:18322301 PMID:18541894 PMID:18936155 PMID:19041016 PMID:19169500 PMID:19255327 PMID:19269918 PMID:19399650 PMID:19445625 PMID:19469690 PMID:19472011 PMID:19522830 PMID:19775624 PMID:19826964 PMID:19906784 PMID:19958926 PMID:20039896 PMID:20065189 PMID:20103606 PMID:20142552 PMID:20368568 PMID:20369307 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20672905 PMID:20719260 PMID:20847059 PMID:20943719 PMID:20956458 PMID:21134561 PMID:21253810 PMID:21309721 PMID:21422803 PMID:21454698 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21552134 PMID:21678021 PMID:21690267 PMID:21711375 PMID:21765987 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22395866 PMID:22574178 PMID:22584709 PMID:22676344 PMID:22703879 PMID:22865907 PMID:22992277 PMID:23056499 PMID:23067224 PMID:23341727 PMID:23468374 PMID:23514012 PMID:23527089 PMID:23660872 PMID:24033266 PMID:24055113 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24429398 PMID:24560924 PMID:24617864 PMID:24699901 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25256751 PMID:25319874 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25624014 PMID:25637381 PMID:25695224 PMID:25733075 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25903693 PMID:26033033 PMID:26046350 PMID:26076779 PMID:26084817 PMID:26206375 PMID:26269449 PMID:26332594 PMID:26343384 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26580448 PMID:26687385 PMID:26758973 PMID:26845104 PMID:27099842 PMID:27379493 PMID:27539324 PMID:27673361 PMID:27807060 PMID:27854218 PMID:27884173 PMID:28125075 PMID:28186607 PMID:28469506 PMID:28492532 PMID:28873162 PMID:28946813 PMID:29263839 PMID:29408964 PMID:29590403 PMID:29625052 PMID:29642553 PMID:29656518 PMID:29684080 PMID:30217742 PMID:30583724 PMID:30660595 PMID:30680046 PMID:30927507 PMID:31159747 PMID:31263477 PMID:31428572 PMID:31510104 PMID:31614935 PMID:31658439 PMID:32099073 PMID:32179705 PMID:32375120 PMID:32732076 PMID:32923848 PMID:33167350 PMID:33397040 PMID:33450337 PMID:33615670 PMID:33763905 PMID:33777662 PMID:33827484 PMID:34629742 PMID:34637071 PMID:34881033 PMID:34885201 PMID:34905813 PMID:35264596 PMID:35304457 PMID:36900197 More...
NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:28492532
NCBI chr19:10,477,876...10,502,573
Ensembl chr19:10,477,898...10,503,506
G
Sdhb
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12213855 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16103922 PMID:16199547 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17102086 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17576681 PMID:17634472 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:17987308 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20605972 PMID:20614293 PMID:20923864 PMID:20960097 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21561462 PMID:21565294 PMID:21820839 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22270996 PMID:22293219 PMID:22429592 PMID:22517554 PMID:22517557 PMID:22573489 PMID:22677546 PMID:22703879 PMID:22835832 PMID:22904323 PMID:22972948 PMID:22995128 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23735539 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24606901 PMID:24659481 PMID:24728327 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25151137 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25494863 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25736212 PMID:25741868 PMID:25873086 PMID:25972245 PMID:26092435 PMID:26102504 PMID:26173966 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26749241 PMID:26916530 PMID:26925370 PMID:26960314 PMID:27011036 PMID:27159321 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27785149 PMID:27867439 PMID:28070496 PMID:28152038 PMID:28179334 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28646318 PMID:28738844 PMID:28784873 PMID:28819017 PMID:28873162 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29623478 PMID:29909963 PMID:29925701 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30122763 PMID:30152102 PMID:30155846 PMID:30201732 PMID:30217213 PMID:30352407 PMID:30487145 PMID:30877234 PMID:31194233 PMID:31212687 PMID:31216007 PMID:31365623 PMID:31492822 PMID:31666924 PMID:31883676 PMID:32023584 PMID:32035780 PMID:32124427 PMID:32460727 PMID:32462735 PMID:32659967 PMID:32741965 PMID:32863293 PMID:32963463 PMID:32971818 PMID:33219105 PMID:33300499 PMID:33362715 PMID:33397040 PMID:33558524 PMID:33628464 PMID:33748650 PMID:34052969 PMID:34069252 PMID:34072806 PMID:34095481 PMID:34118692 PMID:34255389 PMID:34308366 PMID:34377882 PMID:34439168 PMID:34439371 PMID:34466344 PMID:34490615 PMID:34750850 PMID:34906457 PMID:34939938 PMID:34940133 PMID:35060925 PMID:35441217 PMID:35460558 PMID:35546442 PMID:35870552 PMID:36200007 More...
NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504
G
Sdhc
succinate dehydrogenase complex, subunit C, integral membrane protein
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:22703879 PMID:23342407 PMID:24033266 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172
G
Sdhd
succinate dehydrogenase complex, subunit D, integral membrane protein
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15623805 PMID:16080474 PMID:16199547 PMID:16317055 PMID:17041923 PMID:17102085 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18551016 PMID:18678321 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25376524 PMID:25494863 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27634942 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28873162 PMID:28977582 PMID:29386252 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30877234 PMID:30951038 PMID:31194233 PMID:31492822 PMID:32035780 PMID:32741965 PMID:33219105 PMID:33748650 PMID:34012134 PMID:34906457 PMID:35626065 PMID:35938916 More...
NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112
G
Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:24694336 PMID:25389632 PMID:25637381 PMID:25741868 PMID:26267327 PMID:26269449 PMID:26467025 PMID:26960314 PMID:27153395 PMID:28384794 PMID:28492532 PMID:28855235 PMID:29625052 PMID:29909963 PMID:30113886 PMID:30877234 PMID:31666924 PMID:32575117 PMID:32877928 PMID:32994724 PMID:33051659 PMID:33219105 PMID:34439168 More...
NCBI chr 2:127,089,868...127,103,028
Ensembl chr 2:127,089,828...127,103,027
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 PMID:8592333 PMID:8956040 PMID:9156047 PMID:9671762 PMID:9751722 PMID:9829911 PMID:9829912 PMID:10102622 PMID:10766184 PMID:10900011 PMID:12000816 PMID:14722919 PMID:14973063 PMID:15300849 PMID:17102069 PMID:18836774 PMID:19464396 PMID:19574279 PMID:19602254 PMID:20351605 PMID:20660572 PMID:21463266 PMID:22799452 PMID:23512077 PMID:23541568 PMID:24033266 PMID:24583008 PMID:25119015 PMID:25157968 PMID:25563310 PMID:25583177 PMID:25741868 PMID:25966224 PMID:26211615 PMID:26467025 PMID:26681312 PMID:26822237 PMID:27539324 PMID:27651169 PMID:28454591 PMID:28492532 PMID:28873162 PMID:28944243 PMID:29616089 PMID:29790589 PMID:29978187 PMID:30042107 PMID:31368132 PMID:34566400 More...
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
G
Ubr1
ubiquitin protein ligase E3 component n-recognin 1
ISO IAGP
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness CTD Direct Evidence: marker/mechanism DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human) DNA:splice-site mutation:cds:IVS26+5G>A (human) OMIM:243800
OMIM ClinVar CTD MouseDO RGD
PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 PMID:24599544 PMID:25741868 PMID:28492532 PMID:29178640 PMID:21711208 PMID:19006206 More...
RGD:155882463 , RGD:155882462
NCBI chr 2:120,690,753...120,801,246
Ensembl chr 2:120,690,750...120,801,196
G
Abcc8
ATP-binding cassette, sub-family C member 8
ISO
ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 PMID:10204114 PMID:10426386 PMID:10685980 PMID:10857971 PMID:11867634 PMID:14692646 PMID:14715863 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16882742 PMID:16885549 PMID:17378627 PMID:17466004 PMID:17539904 PMID:17823772 PMID:18025408 PMID:18414213 PMID:18596924 PMID:18796520 PMID:18981553 PMID:19475716 PMID:19766903 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943781 PMID:21142918 PMID:21378087 PMID:21422196 PMID:21674179 PMID:21814221 PMID:21989597 PMID:22151254 PMID:22210575 PMID:22533711 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23563683 PMID:24332968 PMID:24401662 PMID:24434300 PMID:25008049 PMID:25117148 PMID:25741868 PMID:25765446 PMID:25871929 PMID:25972930 PMID:26180531 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26740944 PMID:27538677 PMID:27573238 PMID:27677908 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29644095 PMID:29751826 PMID:30098243 PMID:30297969 PMID:30447144 PMID:30515958 PMID:30977832 PMID:31110826 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32928245 PMID:33400071 PMID:34171966 PMID:34194474 PMID:34426522 PMID:34462253 PMID:34777243 PMID:36339418 More...
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
G
Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Leucine-induced hypoglycemia
ClinVar
PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
G
Gcgr
glucagon receptor
ISO IAGP
ClinVar Annotator: match by term: GCGR-related hyperglucagonemia
OMIM ClinVar MouseDO
PMID:19657311 PMID:25695890 PMID:25741868 PMID:27933176 PMID:28492532 PMID:30032256 PMID:30294546 PMID:32785645 More...
NCBI chr11:120,420,011...120,429,815
Ensembl chr11:120,421,525...120,429,812
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Nphp3
nephronophthisis 3 (adolescent)
ISO
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33532864 More...
NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2319082 PMID:2813514 PMID:5001868 PMID:7566978 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777061 PMID:7780957 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8841025 PMID:9036865 PMID:9049826 PMID:9053859 PMID:9133447 PMID:9166859 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9473234 PMID:9516223 PMID:9660926 PMID:9699728 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10229204 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10869234 PMID:10874641 PMID:10892805 PMID:10951521 PMID:10956390 PMID:11058911 PMID:11075991 PMID:11156381 PMID:11360201 PMID:11433531 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11518711 PMID:11556834 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12072543 PMID:12352668 PMID:12417040 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12606942 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12920094 PMID:14508519 PMID:14646620 PMID:14679123 PMID:14735200 PMID:15075790 PMID:15122588 PMID:15146471 PMID:15173226 PMID:15235029 PMID:15705881 PMID:15761864 PMID:15860862 PMID:15863662 PMID:15945100 PMID:16169933 PMID:16234564 PMID:16354195 PMID:16397522 PMID:16614725 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17218939 PMID:17255954 PMID:17370310 PMID:17397031 PMID:17625456 PMID:17713569 PMID:17909018 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18538737 PMID:18573309 PMID:18714178 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18981015 PMID:18983535 PMID:19141585 PMID:19260062 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19725989 PMID:19799798 PMID:20093296 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21614589 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22368299 PMID:22440936 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22995991 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23897584 PMID:24033266 PMID:24185512 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:25023876 PMID:25064638 PMID:25078331 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25318351 PMID:25356972 PMID:25372287 PMID:25479140 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25846456 PMID:25980754 PMID:26104880 PMID:26205736 PMID:26206375 PMID:26225579 PMID:26295973 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26498684 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26845104 PMID:26876133 PMID:26976419 PMID:27181379 PMID:27267843 PMID:27473757 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:27993330 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28410231 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28528518 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28830827 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29091774 PMID:29263814 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29642553 PMID:29661971 PMID:29684080 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29945567 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30093976 PMID:30113427 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30339520 PMID:30548481 PMID:30967399 PMID:31169336 PMID:31432501 PMID:31517177 PMID:31567591 PMID:31921681 PMID:31980996 PMID:32113160 PMID:32191290 PMID:32455486 PMID:32482799 PMID:32957588 PMID:32980694 PMID:33050356 PMID:33134534 PMID:33322357 PMID:33823155 PMID:33939675 PMID:33945383 PMID:34028844 PMID:34069252 PMID:34069952 PMID:34099663 PMID:34369425 PMID:34426522 PMID:34646395 PMID:35001868 PMID:35171259 PMID:35264596 PMID:35566480 PMID:36315513 PMID:36969747 PMID:109563903 More...
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Abca1
ATP-binding cassette, sub-family A member 1
susceptibility
ISO
DNA:SNP:exon:p.R230C (rs9282541) (human)
RGD
PMID:17287470
RGD:1601092
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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Acaca
acetyl-Coenzyme A carboxylase alpha
ameliorates
IEP ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:27821167
RGD:329333017 , RGD:401799622
NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
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Acacb
acetyl-Coenzyme A carboxylase beta
IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822
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Acadvl
acyl-Coenzyme A dehydrogenase, very long chain
treatment
ISO
RGD
PMID:25191539
RGD:10047118
NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237
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Acat2
acetyl-Coenzyme A acetyltransferase 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:14557872
RGD:1581921
NCBI chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO IMP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) CTD Direct Evidence: marker/mechanism associated with vascular diseases; protein:decreased expression:plasma protein:decreased expression:serum
CTD RGD
PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 PMID:19690575 PMID:17893004 PMID:21625822 PMID:21976521 More...
RGD:2313234 , RGD:5686800 , RGD:5686428 , RGD:5686407
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adrb2
adrenergic receptor, beta 2
susceptibility
ISO
DNA:polymorphisms: :p.R16G, p.Q27E
RGD GAD
PMID:14557466 PMID:15118671
RGD:1601127 , RGD:1331525
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Agt
angiotensinogen
ISO
mRNA, protein:increased expression:adipose tissue
RGD
PMID:17260464
RGD:1601134
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr1a
angiotensin II receptor, type 1a
susceptibility
ISO
DNA:snp:3' utr:c.5186A>C
RGD
PMID:17211857
RGD:1601146
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Akp3
alkaline phosphatase 3, intestine, not Mn requiring
IMP
RGD
PMID:23569246
RGD:14349049
NCBI chr 1:87,052,676...87,056,450
Ensembl chr 1:87,052,695...87,055,634
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Aldoa
aldolase A, fructose-bisphosphate
ISO
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923
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Alpl
alkaline phosphatase, liver/bone/kidney
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:16249437
RGD:1601174
NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695
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Apoa1
apolipoprotein A-I
ISO
protein:decreased expression:serum (human) DNA: polymorphism: :G2, G3 and G5
RGD
PMID:17217166 PMID:21410987
RGD:1601183 , RGD:5508220
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoa2
apolipoprotein A-II
ISO
protein:decreased expression:serum
RGD
PMID:19817643
RGD:2313955
NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
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Apoa5
apolipoprotein A-V
susceptibility
ISO
DNA:polymorphism: :p.S19W (human)
RGD
PMID:18789138
RGD:2313315
NCBI chr 9:46,179,906...46,183,219
Ensembl chr 9:46,179,931...46,183,217
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Apob
apolipoprotein B
ISO
protein:increased expression:plasma
RGD
PMID:16828905
RGD:1601198
NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
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Apoc3
apolipoprotein C-III
susceptibility
ISO
protein:increased expression:serum (human) DNA:polymorphism:promoter:-482C>T, -455T>C
RGD
PMID:16298371 PMID:17416293
RGD:2306766 , RGD:1601223
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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Apom
apolipoprotein M
ISO
protein:decreased expression:plasma
RGD
PMID:19539616
RGD:2314236
NCBI chr17:35,347,973...35,350,777
Ensembl chr17:35,347,973...35,351,026
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Atm
ataxia telangiectasia mutated
IDA
RGD
PMID:17084711
RGD:1601248
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atp12a
ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ISO
RGD
PMID:23320804
RGD:13838660
NCBI chr14:56,602,525...56,626,008
Ensembl chr14:56,602,525...56,626,007
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Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:15907830
RGD:1601317
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Bglap
bone gamma carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:21760737
RGD:6483594
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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C3
complement component 3
ISO
RGD
PMID:16488421
RGD:2314030
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Capn10
calpain 10
ISO
DNA:polymorphism
RGD
PMID:16546286
RGD:1625050
NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
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Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16188961 PMID:18486454
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:plasma (rat)
RGD
PMID:19905967
RGD:4889977
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cd163
CD163 antigen
susceptibility
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd36
CD36 molecule
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:9916795 PMID:18305138
RGD:619666 , RGD:2307208
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:16423632 PMID:20006362
RGD:2314214 , RGD:5490591
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cela2a
chymotrypsin-like elastase family, member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31358993
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
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Chek2
checkpoint kinase 2
ISO
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:25129990
RGD:10400905
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Ciita
class II transactivator
ISO
DNA:polymorphism:promoter:-168A>G (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:21357282
RGD:6482318
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cst3
cystatin C
ISO
protein:increased expression:serum (human)
RGD
PMID:19887833
RGD:2314295
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
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Cyba
cytochrome b-245, alpha polypeptide
ISO
RGD
PMID:16741160
RGD:2317864
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
susceptibility
ISO
DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:17261471
RGD:2307294
NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,859...74,728,167
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Cyp7a1
cytochrome P450, family 7, subfamily a, polypeptide 1
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
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Ddr1
discoidin domain receptor family, member 1
IMP
RGD
PMID:32360427
RGD:151347874
NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513
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Dgat1
diacylglycerol O-acyltransferase 1
treatment
IMP
RGD
PMID:21990351
RGD:10401057
NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153
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Dio2
deiodinase, iodothyronine, type II
ISO
DNA:polymorphism: :p.T92A (human)
RGD
PMID:18198294
RGD:2313696
NCBI chr12:90,691,326...90,705,812
Ensembl chr12:90,691,326...90,705,812
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Ephx2
epoxide hydrolase 2, cytoplasmic
ISO
RGD
PMID:22007192
RGD:5688391
NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
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F3
coagulation factor III
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:12417540
RGD:2313865
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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Fabp2
fatty acid binding protein 2, intestinal
ISO
RGD
PMID:16919542
RGD:1626401
NCBI chr 3:122,688,721...122,693,155
Ensembl chr 3:122,688,721...122,693,155
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Fabp4
fatty acid binding protein 4, adipocyte
ISO
protein:increased expression:serum
RGD
PMID:16919044
RGD:1625406
NCBI chr 3:10,269,406...10,273,653
Ensembl chr 3:10,269,148...10,273,636
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Fadd
Fas associated via death domain
ISO
protein:increased expression:heart left ventricle
RGD
PMID:23657904
RGD:11344884
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
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Fas
Fas cell surface death receptor
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasn
fatty acid synthase
ameliorates
IEP ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:31353547 PMID:27821167
RGD:329333017 , RGD:401850595 , RGD:401799622
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
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Fgf15
fibroblast growth factor 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690
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Fgf21
fibroblast growth factor 21
treatment
IDA
RGD
PMID:25306889
RGD:10401890
NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human) DNA:SNP: :rs9939973 (human)
RGD
PMID:21796137 PMID:32061761
RGD:329853776 , RGD:329901771
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
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G6pc1
glucose-6-phosphatase catalytic subunit 1
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr11:101,258,542...101,268,729
Ensembl chr11:101,258,387...101,268,729
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
treatment
ISO
RGD
PMID:19374165 PMID:24868532
RGD:2307350 , RGD:10449117
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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Gcg
glucagon
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
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Gch1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:34200262
RGD:329970293
NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870
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Gck
glucokinase
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
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Gckr
glucokinase regulatory protein
ISO
RGD
PMID:19861489
RGD:7242423
NCBI chr 5:31,454,594...31,484,646
Ensembl chr 5:31,454,787...31,484,658
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Ggt1
gamma-glutamyltransferase 1
susceptibility
ISO
RGD
PMID:17095717 PMID:24847614
RGD:1601300 , RGD:14747015
NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
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Ghrl
ghrelin
ISO
associated with Kidney Diseases;protein:decreased expression:serum ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to In peritoneal dialysis patients DNA:polymorphisms
ClinVar RGD
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 PMID:18996292 PMID:18552255 PMID:16204371 More...
RGD:2313748 , RGD:7242555 , RGD:1625021
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:32,076,052...32,082,925
Ensembl chr18:32,076,050...32,082,689
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:serum
RGD
PMID:24819036
RGD:401827122
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Gsn
gelsolin
severity
IMP
RGD
PMID:29684438
RGD:329333017
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Gstm1
glutathione S-transferase, mu 1
ISO
RGD
PMID:29452132
RGD:14700976
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Hdac3
histone deacetylase 3
ISO
RGD
PMID:21763752
RGD:9590183
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
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Hgf
hepatocyte growth factor
ISO
RGD
PMID:15713721
RGD:1642702
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr17:27,774,798...27,782,649
Ensembl chr17:27,775,471...27,782,648
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
ameliorates
ISO IEP
RGD
PMID:19461650 PMID:31353547 PMID:27821167
RGD:5508692 , RGD:401850595 , RGD:401799622
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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Hmox1
heme oxygenase 1
treatment
ISO
RGD
PMID:22193921
RGD:10763276
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hnf4a
hepatic nuclear factor 4, alpha
ISO
RGD
PMID:16804065
RGD:1601642
NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830
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Hp
haptoglobin
treatment
ISO
protein:increased expression
RGD
PMID:17007284 PMID:20508159
RGD:1626341 , RGD:11041859
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
disease_progression susceptibility
ISO
mRNA:increased expression:ascending aorta,epicardial fat (human) DNA:SNP: (rs12086634)T>G (human) DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human) DNA:SNP:: (rs846910) (human)
RGD
PMID:14697232 PMID:23007990 PMID:23869418 PMID:21622477 PMID:28750217
RGD:1625074 , RGD:329901930 , RGD:329901929 , RGD:329901919 , RGD:329901909
NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
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Htr2c
5-hydroxytryptamine (serotonin) receptor 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632216 PMID:18515891 PMID:19142101
NCBI chr X:145,745,509...145,980,273
Ensembl chr X:145,745,509...145,980,273
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:19394054
RGD:2313467
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
susceptibility
IMP
RGD
PMID:31064654
RGD:14985252
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
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Igf2
insulin-like growth factor 2
ISO
DNA:insertion
RGD
PMID:18418699
RGD:2311520
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
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Igfbp2
insulin-like growth factor binding protein 2
ISO
RGD
PMID:16915540
RGD:1626481
NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633
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Il18
interleukin 18
treatment
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:19717152 PMID:24456735
RGD:4889401 , RGD:8655985
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6ra
interleukin 6 receptor, alpha
susceptibility
ISO
DNA:polymorphism: :p.D358A
RGD
PMID:16817825
RGD:1625430
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Inppl1
inositol polyphosphate phosphatase-like 1
ISO
DNA:SNPs: :rs2276047,snp8(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15220217 PMID:15220217
RGD:1626127
NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
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Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11274935 PMID:16259526
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Insr
insulin receptor
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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Irs1
insulin receptor substrate 1
ameliorates
ISO IDA
protein:decreased expression:skeletal muscle
RGD
PMID:10842668 PMID:31353547
RGD:6482864 , RGD:401850595
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
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Irs2
insulin receptor substrate 2
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
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Itgav
integrin alpha V
ISO
RGD
PMID:16784924
RGD:1627640
NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260
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Kl
klotho
ISO IMP
mRNA:decreased expression:kidney:
RGD
PMID:11027545 PMID:11027545
RGD:10403056 , RGD:10403056
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349936
NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
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Ldlr
low density lipoprotein receptor
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (rat)
CTD RGD
PMID:16793964 PMID:18515891 PMID:19462476 PMID:25380250
RGD:2311125 , RGD:10053625
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lepr
leptin receptor
ISO
DNA:mutations:cds: : (rat) DNA:mutations::cds: : (rat)
RGD
PMID:32710530 PMID:10901178 PMID:28746409
RGD:401960103 , RGD:401965414 , RGD:401965413
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lipe
lipase, hormone sensitive
IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135
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Lipg
lipase, endothelial
ISO
RGD
PMID:16354105
RGD:1580865
NCBI chr18:75,072,393...75,095,380
Ensembl chr18:75,072,393...75,094,334
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Lmna
lamin A
ISO
DNA:SNP: :c.138747C>T (human)
RGD
PMID:15205219
RGD:2306121
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Lrp6
low density lipoprotein receptor-related protein 6
ISO
DNA:missense mutation:cds
RGD
PMID:17332414
RGD:2298725
NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
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Lrpap1
low density lipoprotein receptor-related protein associated protein 1
susceptibility
ISO
associated with Coronary Disease;DNA:SNP:exon
RGD
PMID:14557872
RGD:1581921
NCBI chr 5:35,248,834...35,263,043
Ensembl chr 5:35,248,845...35,263,110
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Map2k2
mitogen-activated protein kinase kinase 2
ISO
mRNA:decreased expression:blood, leukocyte (human)
RGD
PMID:26956845
RGD:155791561
NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809
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Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:65,381,932...65,381,997
Ensembl chr18:65,381,932...65,381,997
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Mlxipl
MLX interacting protein-like
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236
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Mtmr9
myotubularin related protein 9
ISO
DNA:SNP: :rs2293855 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr14:63,757,100...63,781,402
Ensembl chr14:63,757,100...63,781,431
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Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Metabolic syndrome X
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
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Nampt
nicotinamide phosphoribosyltransferase
ISO
DNA:repeats:intron protein:increased expression:plasma
RGD
PMID:15922301 PMID:17556870
RGD:1642345 , RGD:1642337
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
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Neil1
nei endonuclease VIII-like 1 (E. coli)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:17389588
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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Ngf
nerve growth factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Nnmt
nicotinamide N-methyltransferase
ISO
mRNA,protein:increased expression,increased activity:adipose tissue (rat)
RGD
PMID:25719492
RGD:401793724
NCBI chr 9:48,448,905...48,518,958
Ensembl chr 9:48,503,177...48,516,453
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Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD ClinVar RGD
PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 PMID:28967023 PMID:29127233 More...
RGD:13461762 , RGD:13450928
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nox1
NADPH oxidase 1
ISO
protein:increased expression, increased activity:peripheral blood mononuclear cell (human)
RGD
PMID:16380495
RGD:1580973
NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr16:38,068,711...38,115,211
Ensembl chr16:38,068,685...38,115,186
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Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr 1:171,041,503...171,046,414
Ensembl chr 1:171,041,539...171,048,270
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Pck1
phosphoenolpyruvate carboxykinase 1, cytosolic
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
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Pde9a
phosphodiesterase 9A
treatment
IMP
RGD
PMID:34618683
RGD:242170038
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
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Pla2g4a
phospholipase A2, group IVA (cytosolic, calcium-dependent)
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
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Pla2g6
phospholipase A2, group VI
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
mRNA:increased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plat
plasminogen activator, tissue
ISO
protein:increased expression:serum
RGD
PMID:18249307
RGD:2311664
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21573798 PMID:14602783
RGD:1642618
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Ppara
peroxisome proliferator activated receptor alpha
ameliorates
ISO IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685 PMID:31353547
RGD:628329 , RGD:401850595
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Pparg
peroxisome proliferator activated receptor gamma
no_association ameliorates
ISO IEP
DNA:SNP: :p.P12A (human)
RGD
PMID:18959602 PMID:31353547 PMID:16186413 PMID:16183630
RGD:2301843 , RGD:401850595 , RGD:1580686 , RGD:1580683
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
ISO
mRNA:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:20383225
RGD:10059661
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Prkaa2
protein kinase, AMP-activated, alpha 2 catalytic subunit
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:104,886,846...104,967,095
Ensembl chr 4:104,887,071...104,967,087
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Prl
prolactin
ISO
RGD
PMID:16303834
RGD:1642558
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:liver
RGD
PMID:17883899
RGD:1642586
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rbp4
retinol binding protein 4, plasma
disease_progression
ISO
protein:increased expression:blood serum (human) associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)
RGD
PMID:19339013 PMID:19003725
RGD:329845591 , RGD:329853307
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Reg1
regenerating islet-derived 1
treatment
ISO
RGD
PMID:21685239
RGD:10044029
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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Retn
resistin
ISO
DNA:SNP:promoter:-420G>C (rs1862513) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18328350 PMID:17598818
RGD:7207155
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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Scd1
stearoyl-Coenzyme A desaturase 1
ameliorates
ISO IEP
RGD
PMID:27821167 PMID:31353547
RGD:401799622 , RGD:401850595
NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
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Scg3
secretogranin III
ISO
DNA:SNP: :rs3764220 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr 9:75,550,648...75,591,733
Ensembl chr 9:75,550,471...75,591,338
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Selp
selectin, platelet
ISO
RGD
PMID:19061719
RGD:2312292
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Serpina12
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
treatment
ISO
human protein in a mouse model
RGD
PMID:16030142
RGD:1547845
NCBI chr12:103,995,028...104,010,702
Ensembl chr12:103,995,028...104,010,702
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
RGD
PMID:26084260
RGD:11073736
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Shbg
sex hormone binding globulin
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16968811 PMID:17992261 PMID:17884445
RGD:2313785
NCBI chr11:69,501,108...69,508,852
Ensembl chr11:69,505,630...69,508,731
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Sim1
single-minded family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: SIM1-associated metabolic syndrome
ClinVar
NCBI chr10:50,770,794...50,865,252
Ensembl chr10:50,770,850...50,865,248
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Sirt1
sirtuin 1
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:hippocampus (rat)
CTD RGD
PMID:20068143 PMID:21514307 PMID:25356430
RGD:9585758 , RGD:10053569
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Slc27a1
solute carrier family 27 (fatty acid transporter), member 1
susceptibility
IAGP
DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome
RGD
PMID:16611988
RGD:1642790
NCBI chr 8:72,021,372...72,039,951
Ensembl chr 8:72,021,526...72,039,946
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Slc2a1
solute carrier family 2 (facilitated glucose transporter), member 1
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
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Slc2a4
solute carrier family 2 (facilitated glucose transporter), member 4
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014
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Soat2
sterol O-acyltransferase 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:14557872
RGD:1581921
NCBI chr15:102,058,853...102,071,871
Ensembl chr15:102,058,961...102,071,904
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Sod2
superoxide dismutase 2, mitochondrial
treatment
IEP
RGD
PMID:28875871
RGD:26923956
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Srebf1
sterol regulatory element binding transcription factor 1
disease_progression ameliorates
IEP ISO
protein:increased expression:liver (mouse) mRNA:increased expression:liver (rat)
RGD
PMID:29173234 PMID:31353547 PMID:11934685
RGD:401827867 , RGD:401850595 , RGD:628329
NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA:increased expression:left heart ventricle
RGD
PMID:18692559
RGD:2306739
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Thbd
thrombomodulin
ISO
associated with Diabetic Nephropathies;protein:increased expression:plasma
RGD
PMID:16567841
RGD:1601641
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:24441717
RGD:10450604
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
associated with obesity;protein:increased expression:plasma
RGD
PMID:17200772
RGD:1624178
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Trf
transferrin
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:17416791
RGD:1601514
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497449
NCBI chr 2:152,179,345...152,185,980
Ensembl chr 2:152,179,342...152,185,952
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
treatment
ISO
RGD
PMID:11934685
RGD:628329
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
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Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:18718174
RGD:2313109
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:22206010
RGD:7483588
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vwf
Von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16764036
RGD:1625709
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Abcc8
ATP-binding cassette, sub-family C member 8
ISO
ClinVar Annotator: match by term: Neonatal hypoglycemia
ClinVar
PMID:10857971 PMID:16885549 PMID:17466004 PMID:21814221 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
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Akt2
thymoma viral proto-oncogene 2
ISO
ClinVar Annotator: match by term: Hypoglycemia, neonatal, simulating foetopathia diabetica
ClinVar
PMID:15166380 PMID:16722806 PMID:21518566 PMID:25741868 PMID:28492532
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Neonatal hypoglycemia
ClinVar
PMID:16609879 PMID:16885549 PMID:17446535 PMID:17466004 PMID:17635943 PMID:18073297 PMID:18414213 PMID:20301620 PMID:21340152 PMID:23226037 PMID:25741868 PMID:26388896 PMID:27223594 PMID:28492532 PMID:30286572 More...
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
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Avp
arginine vasopressin
ISO IAGP
DNA:missense mutations: :multiple ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus OMIM:125700 | OMIM:304900 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1740104 PMID:1840604 PMID:3390991 PMID:6132221 PMID:7057320 PMID:7714110 PMID:8370681 PMID:8370682 PMID:8514868 PMID:8626836 PMID:8706292 PMID:8945633 PMID:9360520 PMID:9467595 PMID:9580132 PMID:9814475 PMID:10085151 PMID:10369876 PMID:10487710 PMID:11017955 PMID:11443218 PMID:12107248 PMID:14660745 PMID:14673472 PMID:15070970 PMID:16093448 PMID:19129716 PMID:25654069 PMID:25741868 PMID:28008190 PMID:28476225 PMID:28492532 PMID:31238300 PMID:34718110 PMID:18494865 PMID:18578860 More...
RGD:2301918 , RGD:2301917
NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474
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Arid1a
AT-rich interaction domain 1A
exacerbates
ISO
protein:decreased expression:endocrine pancreas (human)
RGD
PMID:32282764
RGD:126790640
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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Cdk4
cyclin dependent kinase 4
ISO
associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)
RGD
PMID:29149451
RGD:13781946
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cdk6
cyclin dependent kinase 6
ISO
associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)
RGD
PMID:29149451
RGD:13781946
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Actr3
ARP3 actin-related protein 3
ISO
RGD
PMID:25809205
RGD:11570559
NCBI chr 1:125,320,642...125,363,464
Ensembl chr 1:125,320,642...125,363,464
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Cyp2a5
cytochrome P450, family 2, subfamily a, polypeptide 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8896890
NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973
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Mir192
microRNA 192
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962
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Braf
Braf transforming gene
ISO
DNA:missense mutation, gene fusions:multiple (human)
RGD
PMID:25266736
RGD:13462041
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Src
Rous sarcoma oncogene
disease_progression
ISO
RGD
PMID:8569183
RGD:150523792
NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782
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Adgrb1
adhesion G protein-coupled receptor B1
ISO
mRNA:decreased expression:pancreas
RGD
PMID:11875720
RGD:13831350
NCBI chr15:74,388,045...74,461,314
Ensembl chr15:74,388,044...74,461,314
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Akt3
thymoma viral proto-oncogene 3
severity
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:27919956
RGD:13451128
NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769
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Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065
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Birc3
baculoviral IAP repeat-containing 3
disease_progression
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Birc7
baculoviral IAP repeat-containing 7
exacerbates
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:180,570,402...180,575,803
Ensembl chr 2:180,570,816...180,575,803
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Cbr4
carbonyl reductase 4
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28166811 PMID:28492532
NCBI chr 8:61,940,768...61,956,534
Ensembl chr 8:61,940,768...61,959,728
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Ccnd1
cyclin D1
severity
ISO
protein:increased expression:pancreas (human)
RGD
PMID:25053516
RGD:13462053
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cdk4
cyclin dependent kinase 4
treatment
ISO
human cells in a mouse model
RGD
PMID:22509328
RGD:13792559
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cdk6
cyclin dependent kinase 6
treatment
ISO
human cells in a mouse model
RGD
PMID:25050737
RGD:13782144
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
DNA:missense mutations:cds:p.V126D, p.A148T (human) ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar RGD
PMID:7780957 PMID:8521414 PMID:8573142 PMID:8595405 PMID:8723678 PMID:9324288 PMID:9536098 PMID:9751050 PMID:9823374 PMID:10491434 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:14508519 PMID:16234564 PMID:16896043 PMID:16905682 PMID:17576681 PMID:18573309 PMID:21462282 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26619011 PMID:26681309 PMID:26775776 PMID:28492532 PMID:28830827 PMID:29464027 PMID:29983899 PMID:32455486 PMID:35001868 PMID:16397522 More...
RGD:8552283
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:9065402 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:10666372 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
RGD
PMID:21448932
RGD:11352272
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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E2f1
E2F transcription factor 1
treatment
ISO
Human cells in a mouse model
RGD
PMID:28797284
RGD:13838736
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:11093740 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17873334 PMID:20197676 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:30702195 More...
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
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Gstt1
glutathione S-transferase, theta 1
ISO
RGD
PMID:11854392
RGD:14700985
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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Hras
Harvey rat sarcoma virus oncogene
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Hrg
histidine-rich glycoprotein
disease_progression
ISO
RGD
PMID:21713765
RGD:11041886
NCBI chr16:22,769,822...22,780,409
Ensembl chr16:22,769,822...22,780,406
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Jak1
Janus kinase 1
treatment
ISO
human cell line in a mouse model
RGD
PMID:29328487
RGD:13838743
NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Map2k1
mitogen-activated protein kinase kinase 1
treatment severity
ISO
human tissue in a mouse model protein:increased expression:pancreas (human)
RGD
PMID:28849200 PMID:19513748
RGD:13838804 , RGD:13838840
NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913
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Map2k2
mitogen-activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:18042262 PMID:26619011
NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809
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Mapk1
mitogen-activated protein kinase 1
severity
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:27919956
RGD:13451128
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mapk10
mitogen-activated protein kinase 10
severity
ISO
DNA:SNP:intron: (rs2589506) (human)
RGD
PMID:
RGD:13838853
NCBI chr 5:103,056,413...103,359,200
Ensembl chr 5:103,055,814...103,359,200
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Mapk8
mitogen-activated protein kinase 8
exacerbates
ISO
protein:increased phosphorylation:pancreas (human)
RGD
PMID:24395444
RGD:150340683
NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Mapk9
mitogen-activated protein kinase 9
ISO
RGD
PMID:22517435
RGD:14348976
NCBI chr11:49,737,558...49,777,248
Ensembl chr11:49,737,578...49,777,248
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:26619011
NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071
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Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:26619011
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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Nfkb1
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
severity
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:27919956
RGD:13451128
NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308
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Palld
palladin, cytoskeletal associated protein
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:9536098 PMID:10454945 PMID:11474289 PMID:17194196 PMID:17415588 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 More...
NCBI chr 8:61,964,465...62,355,741
Ensembl chr 8:61,964,467...62,355,724
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Plat
plasminogen activator, tissue
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:16733850
RGD:11541045
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Pole
polymerase (DNA directed), epsilon
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 PMID:25228659 PMID:26619011 PMID:28492532 PMID:32424176 More...
NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340
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Rac1
Rac family small GTPase 1
treatment
ISO
human cells in a mouse model
RGD
PMID:21037555
RGD:14392805
NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791
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Raf1
v-raf-leukemia viral oncogene 1
treatment
ISO
human cells in a mouse model
RGD
PMID:15014358
RGD:14392893
NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596
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Ralb
v-ral simian leukemia viral oncogene B
treatment
ISO
human cells in a mouse model
RGD
PMID:17174914
RGD:14394417
NCBI chr 1:119,398,035...119,432,512
Ensembl chr 1:119,398,035...119,432,524
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Ralbp1
ralA binding protein 1
treatment
ISO
human cells in a mouse model
RGD
PMID:22509328
RGD:13792559
NCBI chr17:66,155,410...66,192,750
Ensembl chr17:66,155,413...66,192,793
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:26619011
NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:26619011
NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12116240 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:31837202 PMID:32300199 PMID:32573726 PMID:32944796 More...
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Smad7
SMAD family member 7
severity
ISO
human cell and construct in a mouse model
RGD
PMID:10498890
RGD:14394510
NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006
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Stat1
signal transducer and activator of transcription 1
ameliorates
ISO
protein:increased expression:pancreas (human)
RGD
PMID:24658320
RGD:155630608
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Trp53
transformation related protein 53
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7750099 PMID:7783166 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8336941 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22862161 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23340422 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24256616 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24763289 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24940547 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28271309 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32156018 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33635883 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36988593 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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U2af1
U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1
ISO
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011
NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866
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Vegfc
vascular endothelial growth factor C
exacerbates
ISO
protein:increased expression:pancreas (human)
RGD
PMID:22082308
RGD:155630643
NCBI chr 8:54,530,567...54,639,489
Ensembl chr 8:54,530,641...54,640,131
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Tgfb2
transforming growth factor, beta 2
ameliorates
ISO
human cells in a mouse model
RGD
PMID:21366804
RGD:155630611
NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186
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Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158542
NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
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Pdx1
pancreatic and duodenal homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatic agenesis, congenital | ClinVar Annotator: match by term: Pancreatic hypoplasia
CTD ClinVar
PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15883474 PMID:15885879 PMID:19228875 PMID:19817786 PMID:19855005 PMID:21569088 PMID:22158542 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:28436541 PMID:28492532 PMID:29396371 PMID:29439679 PMID:31264968 PMID:31366392 PMID:34988346 More...
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
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Ptf1a
pancreas specific transcription factor, 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15543146 PMID:22158542 PMID:24212882
NCBI chr 2:19,450,474...19,452,312
Ensembl chr 2:19,450,474...19,452,312
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Pdx1
pancreatic and duodenal homeobox 1
susceptibility
ISO
ClinVar Annotator: match by term: PDX1-Related Disorder | ClinVar Annotator: match by term: Pancreatic agenesis 1
ClinVar OMIM
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20301620 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 PMID:31264968 More...
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
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4921504E06Rik
RIKEN cDNA 4921504E06 gene
ISO
ClinVar Annotator: match by term: Pancreatic agenesis 2
ClinVar
PMID:25741868
NCBI chr 2:19,467,648...19,558,721
Ensembl chr 2:19,467,648...19,558,725
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Ptf1a
pancreas specific transcription factor, 1a
ISO
ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2
OMIM ClinVar
PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr 2:19,450,474...19,452,312
Ensembl chr 2:19,450,474...19,452,312
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A4gnt
alpha-1,4-N-acetylglucosaminyltransferase
ISO
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:16441422
RGD:2325199
NCBI chr 9:99,473,233...99,504,420
Ensembl chr 9:99,494,555...99,504,420
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Abcc2
ATP-binding cassette, sub-family member 2
ISO
mRNA, protein:increased expression:pancreas
RGD
PMID:19020751
RGD:2317509
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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Abcc3
ATP-binding cassette, sub-family C member 3
severity
ISO
mRNA:increased expression:pancreas
RGD
PMID:15688370
RGD:2325200
NCBI chr11:94,234,121...94,283,843
Ensembl chr11:94,234,121...94,283,823
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Abcc5
ATP-binding cassette, sub-family C member 5
ISO
mRNA:increased expression:pancreas
RGD
PMID:15688370
RGD:2325200
NCBI chr16:20,150,053...20,245,178
Ensembl chr16:20,150,053...20,245,144
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19648918 PMID:26098869 PMID:20103627
RGD:2317511
NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991
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Ace
angiotensin I converting enzyme
IMP
RGD
PMID:19880966
RGD:2325208
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Acvr1
activin A receptor, type 1
ISO
RGD
PMID:9714055
RGD:2317217
NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
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Acvr1b
activin A receptor, type 1B
ISO
mRNA:increased expression:pancreas CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:9714055 PMID:11248065
RGD:2317217 , RGD:1598735
NCBI chr15:101,071,953...101,111,565
Ensembl chr15:101,071,948...101,111,565
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Acvr2a
activin receptor IIA
ISO
RGD
PMID:9714055
RGD:2317217
NCBI chr 2:48,704,121...48,793,276
Ensembl chr 2:48,704,121...48,793,281
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Adam15
ADAM metallopeptidase domain 15
ISO
mRNA:increased expression:pancreas, epithelial cell
RGD
PMID:17465204
RGD:2325247
NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303
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Adam9
ADAM metallopeptidase domain 9
ISO
mRNA:increased expression:pancreas, epithelial cell
RGD
PMID:17465204
RGD:2325247
NCBI chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943
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Adgre5
adhesion G protein-coupled receptor E5
ISO
protein:increased expression:pancreas
RGD
PMID:12428789
RGD:2317573
NCBI chr 8:84,449,874...84,467,812
Ensembl chr 8:84,449,880...84,467,955
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Adh1
alcohol dehydrogenase 1 (class I)
ISO
DNA:polymorphism: :p.R272Q (human)
RGD
PMID:19068087
RGD:2325313
NCBI chr 3:137,983,346...137,996,459
Ensembl chr 3:137,966,752...137,996,459
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Adm
adrenomedullin
disease_progression
ISO
RGD
PMID:16841081 PMID:17363587
RGD:2325318 , RGD:2325317
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:decreased expression:serum
RGD
PMID:20398646
RGD:2325643
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Agtr2
angiotensin II receptor, type 2
ISO
mRNA:increased expression:pancreas
RGD
PMID:11916627
RGD:2325641
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Ahr
aryl-hydrocarbon receptor
ISO
mRNA:increased expression:pancreas CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:12203118 PMID:25826687 PMID:12203118
RGD:2325664
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Akt1
thymoma viral proto-oncogene 1
severity treatment
ISO
protein:increased phosphorylation:pancreas (human) human cells in a mouse model
RGD
PMID:20697673 PMID:11595724
RGD:13450953 , RGD:13452388
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Akt2
thymoma viral proto-oncogene 2
ISO
RGD
PMID:16847462 PMID:19506583
RGD:2290476 , RGD:5490965
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Alb
albumin
disease_progression
ISO
RGD
PMID:18154768 PMID:20508721
RGD:2325678 , RGD:2325675
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Aldh1a1
aldehyde dehydrogenase family 1, subfamily A1
ISO
protein:decreased expression:pancreas
RGD
PMID:19216797
RGD:2325688
NCBI chr19:20,469,947...20,620,827
Ensembl chr19:20,470,079...20,620,829
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Aldh2
aldehyde dehydrogenase 2, mitochondrial
susceptibility
ISO
DNA:polymorphism: :p.E504K (human) DNA:polymorphism (human)
RGD
PMID:19068087 PMID:15714130
RGD:2325313 , RGD:2325694
NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30258081
NCBI chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:pancreas
CTD RGD
PMID:30258081 PMID:12481414 PMID:12163367
RGD:2317523 , RGD:2317524
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
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Ang
angiogenin, ribonuclease, RNase A family, 5
disease_progression
ISO
mRNA, protein:increased expression:pancreas, serum
RGD
PMID:8665497
RGD:2325716
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Anxa1
annexin A1
ISO
protein:increased expression:pancreas
RGD
PMID:19173988 PMID:17974280
RGD:2325722 , RGD:2325723
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
G
Anxa10
annexin A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28369074
NCBI chr 8:62,510,076...62,576,227
Ensembl chr 8:62,510,076...62,576,184
G
Apaf1
apoptotic peptidase activating factor 1
ISO
mRNA:increased expression:pancreas
RGD
PMID:17224646
RGD:2325739
NCBI chr10:90,825,173...90,918,688
Ensembl chr10:90,825,173...90,918,632
G
Apc
APC, WNT signaling pathway regulator
ISO IAGP
DNA:deletions (human) DNA:mutation, loss of heterozygosity
RGD
PMID:1423316 PMID:7478622
RGD:2317208 , RGD:2317207
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
G
Apoa1
apolipoprotein A-I
ISO
protein:decreased expression:serum protein:increased expression:pancreas
RGD
PMID:17312459 PMID:17332923
RGD:2325758 , RGD:2325757
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
G
Apoe
apolipoprotein E
ISO
protein:increased expression:pancreas (human)
RGD
PMID:16215274
RGD:2317552
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
G
Arid1a
AT-rich interaction domain 1A
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
G
Arid1b
AT-rich interaction domain 1B
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
G
Arpc1a
actin related protein 2/3 complex, subunit 1A
ISO
DNA:amplification (human)
RGD
PMID:19145645
RGD:2317557
NCBI chr 5:145,020,679...145,045,566
Ensembl chr 5:145,020,640...145,045,571
G
Artn
artemin
disease_progression
ISO
mRNA:increased expression:pancreas
RGD
PMID:19304517 PMID:20395845
RGD:2325817 , RGD:2325815
NCBI chr 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960
G
Atm
ataxia telangiectasia mutated
susceptibility
ISO
DNA:SNP:intron:rs664677 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:rs1801516(human) DNA:SNP: :60G>A(human)
CTD RGD
PMID:26098866 PMID:26098869 PMID:16520463 PMID:19147782 PMID:18381943
RGD:2317367 , RGD:2317363 , RGD:2317234
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
G
Atr
ataxia telangiectasia and Rad3 related
ISO
DNA:SNP: :340C>T (human)
RGD
PMID:18381943
RGD:2317234
NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834
G
Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21252315
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
G
Axl
AXL receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26206560
NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130
G
B3galt5
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5
ISO
mRNA:increased expression:pancreas
RGD
PMID:14555842
RGD:2317558
NCBI chr16:96,037,001...96,121,059
Ensembl chr16:96,037,001...96,121,059
G
Bad
BCL2-associated agonist of cell death
treatment
ISO
human cells in a mouse model
RGD
PMID:23523869
RGD:13451129
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
G
Bag3
BCL2-associated athanogene 3
ISO
mRNA:increased expression:pancreas
RGD
PMID:11513873
RGD:2325843
NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705
G
Bag4
BCL2-associated athanogene 4
ISO
mRNA:increased expression:pancreas
RGD
PMID:10799310
RGD:2325852
NCBI chr 8:26,254,566...26,275,237
Ensembl chr 8:26,254,566...26,275,315
G
Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
G
Bcar1
breast cancer anti-estrogen resistance 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26098869
NCBI chr 8:112,437,106...112,470,481
Ensembl chr 8:112,437,106...112,470,441
G
Bcl2l1
BCL2-like 1
severity
ISO
human gene in a mouse model CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16904634 PMID:17941720
RGD:11353794
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
G
Bid
BH3 interacting domain death agonist
ISO
RGD
PMID:15943879
RGD:2317560
NCBI chr 6:120,870,080...120,894,074
Ensembl chr 6:120,868,891...120,893,814
G
Boc
BOC cell adhesion associated, oncogene regulated
ISO
RGD
PMID:18772397
RGD:5490966
NCBI chr16:44,305,408...44,379,233
Ensembl chr16:44,305,412...44,379,260
G
Braf
Braf transforming gene
disease_progression
IMP ISO
human gene in a mouse model
RGD
PMID:18490924 PMID:22628411 PMID:22871572
RGD:13451537 , RGD:13462040 , RGD:13461863
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
G
Brca1
breast cancer 1, early onset
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4
CTD ClinVar OMIM
PMID:7545954 PMID:7795652 PMID:7837387 PMID:7894491 PMID:7894492 PMID:7894493 PMID:8531967 PMID:8554067 PMID:8595428 PMID:8644702 PMID:8644703 PMID:8723683 PMID:8807330 PMID:8833256 PMID:8841191 PMID:8944023 PMID:8968102 PMID:9042909 PMID:9063749 PMID:9145676 PMID:9150153 PMID:9150154 PMID:9452076 PMID:9510469 PMID:9525870 PMID:9544766 PMID:9634504 PMID:9663595 PMID:9699523 PMID:9760198 PMID:9805131 PMID:9836472 PMID:10090881 PMID:10196379 PMID:10389907 PMID:10447273 PMID:10464624 PMID:10486320 PMID:10505028 PMID:10615237 PMID:10739756 PMID:10788334 PMID:10811118 PMID:10885601 PMID:11015464 PMID:11102977 PMID:11102986 PMID:11106241 PMID:11157798 PMID:11251181 PMID:11260866 PMID:11278247 PMID:11320250 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11410501 PMID:11466700 PMID:11504767 PMID:11526114 PMID:11597388 PMID:11739404 PMID:11802209 PMID:11896095 PMID:11920621 PMID:12125210 PMID:12181777 PMID:12204006 PMID:12360400 PMID:12393792 PMID:12400015 PMID:12402332 PMID:12566964 PMID:12601471 PMID:12732733 PMID:12752644 PMID:12771565 PMID:12810666 PMID:12827452 PMID:12938098 PMID:14534301 PMID:14555511 PMID:14576434 PMID:14729053 PMID:14760071 PMID:14986830 PMID:15024741 PMID:15131401 PMID:15133502 PMID:15133503 PMID:15172985 PMID:15235020 PMID:15290653 PMID:15350310 PMID:15365993 PMID:15383404 PMID:15385441 PMID:15569676 PMID:15726418 PMID:15876480 PMID:15951956 PMID:15955237 PMID:15994883 PMID:16014699 PMID:16030426 PMID:16162645 PMID:16168118 PMID:16227521 PMID:16267036 PMID:16403807 PMID:16489001 PMID:16528604 PMID:16541315 PMID:16644204 PMID:16683254 PMID:16905680 PMID:16949048 PMID:16998791 PMID:17100994 PMID:17305420 PMID:17307836 PMID:17308087 PMID:17341484 PMID:17585057 PMID:17591843 PMID:17922257 PMID:18036263 PMID:18159056 PMID:18243530 PMID:18273839 PMID:18284688 PMID:18334730 PMID:18375895 PMID:18413725 PMID:18418466 PMID:18431737 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18627636 PMID:18680205 PMID:18694767 PMID:18762988 PMID:18763032 PMID:18783588 PMID:18940477 PMID:19200354 PMID:19208665 PMID:19287957 PMID:19359128 PMID:19370767 PMID:19543972 PMID:19563646 PMID:19594371 PMID:19661094 PMID:19770520 PMID:19949876 PMID:19996028 PMID:20103620 PMID:20104584 PMID:20180014 PMID:20301425 PMID:20345474 PMID:20373018 PMID:20378548 PMID:20455026 PMID:20507347 PMID:20516115 PMID:20569256 PMID:20683152 PMID:20727672 PMID:20730485 PMID:20807450 PMID:21119707 PMID:21147080 PMID:21232165 PMID:21324516 PMID:21348412 PMID:21356067 PMID:21371001 PMID:21447777 PMID:21473589 PMID:21503673 PMID:21520273 PMID:21523855 PMID:21643751 PMID:21702907 PMID:21708019 PMID:21709188 PMID:21735045 PMID:21834074 PMID:21922593 PMID:21946536 PMID:21965345 PMID:21989927 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22032251 PMID:22034289 PMID:22136207 PMID:22160602 PMID:22172724 PMID:22185575 PMID:22430266 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22516946 PMID:22535016 PMID:22666503 PMID:22703879 PMID:22711857 PMID:22713736 PMID:22753008 PMID:22776961 PMID:22798144 PMID:22811390 PMID:22843421 PMID:22889855 PMID:22923021 PMID:23110154 PMID:23161852 PMID:23164213 PMID:23192404 PMID:23199084 PMID:23231788 PMID:23232912 PMID:23239986 PMID:23249957 PMID:23397983 PMID:23469205 PMID:23479189 PMID:23683081 PMID:23695190 PMID:23704984 PMID:23747895 PMID:23867111 PMID:23954390 PMID:24033266 PMID:24131973 PMID:24249303 PMID:24285858 PMID:24307375 PMID:24312913 PMID:24319668 PMID:24333842 PMID:24489791 PMID:24504028 PMID:24516540 PMID:24549055 PMID:24667779 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24825132 PMID:24884479 PMID:25066507 PMID:25085752 PMID:25085762 PMID:25330149 PMID:25371446 PMID:25400221 PMID:25418591 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25556971 PMID:25637381 PMID:25652403 PMID:25682074 PMID:25716084 PMID:25741868 PMID:25782689 PMID:25802882 PMID:25823446 PMID:25863477 PMID:25948282 PMID:25971625 PMID:25980754 PMID:26028024 PMID:26083025 PMID:26098869 PMID:26187060 PMID:26206375 PMID:26219728 PMID:26246475 PMID:26295337 PMID:26332594 PMID:26350514 PMID:26430151 PMID:26440929 PMID:26467025 PMID:26541979 PMID:26556299 PMID:26666763 PMID:26681312 PMID:26689913 PMID:26718727 PMID:26727311 PMID:26777316 PMID:26852130 PMID:26911350 PMID:27062684 PMID:27153395 PMID:27257965 PMID:27272900 PMID:27425403 PMID:27433846 PMID:27495310 PMID:27498913 PMID:27553291 PMID:27741520 PMID:27836010 PMID:27907908 PMID:27914478 PMID:27978560 PMID:27989354 PMID:28049106 PMID:28091860 PMID:28111427 PMID:28263838 PMID:28283652 PMID:28285342 PMID:28324225 PMID:28364669 PMID:28398198 PMID:28423363 PMID:28477318 PMID:28478614 PMID:28480178 PMID:28490613 PMID:28492532 PMID:28503720 PMID:28525389 PMID:28528518 PMID:28724667 PMID:28740454 PMID:28781887 PMID:28831036 PMID:28888541 PMID:28993434 PMID:29021639 PMID:29161300 PMID:29215753 PMID:29280214 PMID:29310832 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29360161 PMID:29433453 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29486991 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29667044 PMID:29758562 PMID:29785135 PMID:29790872 PMID:29797126 PMID:29907814 PMID:29961768 PMID:29998185 PMID:30067863 PMID:30078507 PMID:30093976 PMID:30113427 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30209399 PMID:30257991 PMID:30287823 PMID:30322717 PMID:30333958 PMID:30458859 PMID:30480775 PMID:30489631 PMID:30555256 PMID:30606148 PMID:30613976 PMID:30676620 PMID:30702160 PMID:30720243 PMID:30765603 PMID:30962250 PMID:30975216 PMID:31065452 PMID:31090900 PMID:31131967 PMID:31159747 PMID:31209999 PMID:31263571 PMID:31347298 PMID:31360904 PMID:31368036 PMID:31447099 PMID:31454914 PMID:31528241 PMID:31742824 PMID:31825140 PMID:31851867 PMID:31911673 PMID:32039725 PMID:32058061 PMID:32123317 PMID:32295079 PMID:32338768 PMID:32341426 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32658311 PMID:32719484 PMID:32741062 PMID:32782288 PMID:32817299 PMID:32854451 PMID:32885271 PMID:33087888 PMID:33309985 PMID:33449224 PMID:33471991 PMID:33484353 PMID:33507482 PMID:33558524 PMID:33606809 PMID:33674644 PMID:33758026 PMID:33875706 PMID:34413315 PMID:34597585 PMID:34657373 PMID:34981296 PMID:35039564 PMID:35409996 PMID:35464868 PMID:35918668 PMID:36003761 PMID:36329109 PMID:36612302 PMID:36627197 PMID:36988593 More...
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
G
Brca2
breast cancer 2, early onset
susceptibility
ISO
DNA:mutations: : ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:251866 PMID:278235 PMID:2200631 PMID:8075631 PMID:8524414 PMID:8589730 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8758903 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8988179 PMID:9042909 PMID:9145676 PMID:9150153 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9758598 PMID:9792861 PMID:9971877 PMID:10399947 PMID:10417300 PMID:10464624 PMID:10570174 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10717622 PMID:10733239 PMID:10739756 PMID:10790213 PMID:10874312 PMID:10923033 PMID:10978364 PMID:11062481 PMID:11149425 PMID:11179017 PMID:11207042 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11466700 PMID:11504767 PMID:11556836 PMID:11595708 PMID:11597388 PMID:11754111 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11896095 PMID:11920643 PMID:11927503 PMID:11929857 PMID:11948123 PMID:12065746 PMID:12097257 PMID:12097290 PMID:12142080 PMID:12181777 PMID:12215251 PMID:12373604 PMID:12402332 PMID:12473589 PMID:12474142 PMID:12556369 PMID:12655567 PMID:12670525 PMID:12845657 PMID:12872265 PMID:12955716 PMID:12960223 PMID:14555511 PMID:14559878 PMID:14576434 PMID:14647210 PMID:14647438 PMID:14670928 PMID:14973102 PMID:15024741 PMID:15070707 PMID:15117986 PMID:15131399 PMID:15145354 PMID:15168169 PMID:15235023 PMID:15290653 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15695382 PMID:15800311 PMID:15887246 PMID:15994883 PMID:16030099 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16234499 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16489001 PMID:16683254 PMID:16758124 PMID:16760289 PMID:16825431 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16949048 PMID:16978908 PMID:17063270 PMID:17100994 PMID:17148771 PMID:17262179 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17591843 PMID:17636422 PMID:17657584 PMID:17688236 PMID:17767707 PMID:17899372 PMID:17924331 PMID:17925560 PMID:17972171 PMID:17972177 PMID:18042939 PMID:18182994 PMID:18284688 PMID:18393245 PMID:18424508 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18607349 PMID:18627636 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18752448 PMID:18779604 PMID:18821011 PMID:18951461 PMID:19016756 PMID:19043619 PMID:19188187 PMID:19241424 PMID:19353265 PMID:19491284 PMID:19499246 PMID:19530235 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19861517 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20135345 PMID:20167696 PMID:20215541 PMID:20216074 PMID:20301425 PMID:20373018 PMID:20380699 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:20887823 PMID:21120943 PMID:21205087 PMID:21218378 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21520273 PMID:21523855 PMID:21559243 PMID:21613821 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21720365 PMID:21913181 PMID:21918853 PMID:21952622 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22109874 PMID:22126563 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22430266 PMID:22476429 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22682623 PMID:22703879 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22848303 PMID:22874498 PMID:22875147 PMID:22923021 PMID:22970155 PMID:22995991 PMID:23028338 PMID:23035815 PMID:23096105 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23265383 PMID:23318356 PMID:23341105 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23633455 PMID:23658460 PMID:23725378 PMID:23767878 PMID:23884708 PMID:23929434 PMID:23942203 PMID:23961350 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24212087 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24470074 PMID:24489791 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25236687 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25685387 PMID:25737278 PMID:25741868 PMID:25782689 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:25980754 PMID:26022348 PMID:26026974 PMID:26046366 PMID:26064523 PMID:26067864 PMID:26098869 PMID:26187060 PMID:26219728 PMID:26221963 PMID:26287763 PMID:26295337 PMID:26350514 PMID:26360800 PMID:26402875 PMID:26425718 PMID:26439132 PMID:26440929 PMID:26467025 PMID:26530882 PMID:26541979 PMID:26543556 PMID:26556299 PMID:26577449 PMID:26580448 PMID:26657402 PMID:26659639 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26709275 PMID:26733283 PMID:26757417 PMID:26786923 PMID:26834852 PMID:26845104 PMID:26852015 PMID:26867194 PMID:26933808 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27535533 PMID:27553368 PMID:27658390 PMID:27701467 PMID:27732944 PMID:27741520 PMID:27831900 PMID:27836010 PMID:27882536 PMID:27907908 PMID:27989354 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28179634 PMID:28222693 PMID:28243543 PMID:28277317 PMID:28281021 PMID:28283652 PMID:28294317 PMID:28324225 PMID:28349240 PMID:28351343 PMID:28419251 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28664506 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28814288 PMID:28825143 PMID:28831036 PMID:28873162 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28944232 PMID:28961279 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29240602 PMID:29288066 PMID:29321669 PMID:29335925 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29394989 PMID:29433453 PMID:29439820 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29487695 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29566657 PMID:29575201 PMID:29625052 PMID:29681614 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29884136 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29937315 PMID:29961768 PMID:29978187 PMID:29988080 PMID:30039884 PMID:30078507 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30128899 PMID:30152102 PMID:30186769 PMID:30199306 PMID:30254663 PMID:30262796 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30415210 PMID:30472649 PMID:30489631 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30623411 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30883245 PMID:30972954 PMID:30982232 PMID:31076742 PMID:31090900 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31343793 PMID:31360904 PMID:31396961 PMID:31409081 PMID:31411802 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31706072 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31871109 PMID:31892343 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32211327 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32359129 PMID:32380732 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32455662 PMID:32467295 PMID:32521533 PMID:32532514 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32806537 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32879886 PMID:32885271 PMID:32980694 PMID:33008098 PMID:33077847 PMID:33078592 PMID:33087929 PMID:33113089 PMID:33151324 PMID:33309985 PMID:33372952 PMID:33428613 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33563768 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33646313 PMID:33773534 PMID:33842585 PMID:33918338 PMID:33964450 PMID:34008015 PMID:34072659 PMID:34196900 PMID:34308366 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34572941 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34680878 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35451682 PMID:35464868 PMID:35535697 PMID:35753294 PMID:35918668 PMID:36169650 PMID:36243179 PMID:36329109 PMID:36370215 PMID:36988593 PMID:37349538 PMID:37461096 PMID:22187320 More...
RGD:9068467
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Bsg
basigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
NCBI chr10:79,540,192...79,547,813
Ensembl chr10:79,540,325...79,547,803
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Bub1b
BUB1B, mitotic checkpoint serine/threonine kinase
ISO
protein:altered localization:pancreas
RGD
PMID:17242465
RGD:2326105
NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072
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Cab39
calcium binding protein 39
disease_progression
ISO
RGD
PMID:28197410
RGD:14398834
NCBI chr 1:85,707,796...85,779,298
Ensembl chr 1:85,721,162...85,779,297
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Cacybp
calcyclin binding protein
disease_progression
ISO
mRNA, protein:increased expression:pancreas
RGD
PMID:18765951
RGD:2326146
NCBI chr 1:160,029,171...160,040,391
Ensembl chr 1:160,029,937...160,040,445
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Cap1
cyclase associated actin cytoskeleton regulatory protein 1
disease_progression
ISO
mRNA, protein:increased expression:pancreas
RGD
PMID:19188911
RGD:2326238
NCBI chr 4:122,752,841...122,779,869
Ensembl chr 4:122,752,840...122,779,849
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Capn10
calpain 10
susceptibility
ISO
DNA:SNP:intron:rs3792267 (human)
RGD
PMID:20178008
RGD:4107073
NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
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Casp8
caspase 8
susceptibility
ISO
DNA:deletion, insertion:promoter (human) DNA:SNP: :rs1045485 (human)
RGD
PMID:18483392 PMID:19843670
RGD:2315744 , RGD:2317230
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Casp9
caspase 9
susceptibility treatment
ISO
DNA:snp:promoter:g.-1263A>G (human)
RGD
PMID:20357690 PMID:19209030
RGD:13451540 , RGD:13462046
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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Cat
catalase
disease_progression
ISO
protein:decreased expression:pancreas
RGD
PMID:12499913
RGD:2317410
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Cbr4
carbonyl reductase 4
ISO
ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:61,940,768...61,956,534
Ensembl chr 8:61,940,768...61,959,728
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Cckar
cholecystokinin A receptor
ISO
mRNA:increased expression:pancreas
RGD
PMID:10457335 PMID:8222074
RGD:4110817 , RGD:4110822
NCBI chr 5:53,855,827...53,865,046
Ensembl chr 5:53,855,118...53,865,047
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Cckbr
cholecystokinin B receptor
disease_progression susceptibility
ISO
mRNA:increased expression:pancreas
RGD
PMID:8222074 PMID:8302799 PMID:1458479 PMID:15688412
RGD:4110822 , RGD:4110823 , RGD:4110821 , RGD:4110829
NCBI chr 7:105,075,201...105,085,546
Ensembl chr 7:105,074,938...105,120,105
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30603057 PMID:10225458
RGD:7483623
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccl5
C-C motif chemokine ligand 5
IMP
RGD
PMID:19155524
RGD:2317567
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccnd1
cyclin D1
disease_progression treatment
ISO IEP
human cells in a mouse model mRNA, protein:increased expression:pancreas (mouse)
RGD
PMID:22722256 PMID:11159909 PMID:17541034
RGD:13451541 , RGD:13452385 , RGD:13462059
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Ccng1
cyclin G1
treatment
ISO
human cells in mouse model
RGD
PMID:11177556
RGD:151361109
NCBI chr11:40,639,379...40,646,044
Ensembl chr11:40,639,379...40,646,138
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Ccr4
C-C motif chemokine receptor 4
ISO
protein:increased expression:pancreas
RGD
PMID:12761880
RGD:2317610
NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984
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Ccr5
C-C motif chemokine receptor 5
IMP
RGD
PMID:19155524
RGD:2317567
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd24a
CD24a antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28369074
NCBI chr10:43,454,433...43,460,261
Ensembl chr10:43,454,280...43,460,261
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Cd44
CD44 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17446842
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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Cdc42
cell division cycle 42
severity
ISO
mRNA, protein:increased expression:pancreas (human)
RGD
PMID:28181096
RGD:13452244
NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18223216
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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Cdk4
cyclin dependent kinase 4
susceptibility disease_progression
ISO IMP IEP
protein:increased expression:islet of Langerhans (human) protein:increased expression:islet of Langerhans, nucleus (rat) protein:increased expression:pancreas (mouse)
RGD
PMID:22761470 PMID:24531709 PMID:22477723 PMID:11159909
RGD:13452384 , RGD:13452387 , RGD:13452386 , RGD:13452385
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
DNA:mutations:exon CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10627132 PMID:26098869 PMID:18772397
RGD:5490966
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20876774
NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043
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Cftr
cystic fibrosis transmembrane conductance regulator
no_association onset
ISO
RGD
PMID:17072959 PMID:16227367
RGD:2317157 , RGD:2317156
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Chek1
checkpoint kinase 1
disease_progression
ISO
DNA:SNP: :35G>A (human)
RGD
PMID:18381943
RGD:2317234
NCBI chr 9:36,619,935...36,637,897
Ensembl chr 9:36,619,778...36,638,361
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Cldn4
claudin 4
ISO
RGD
PMID:19555390 PMID:19793693
RGD:2317583 , RGD:2317580
NCBI chr 5:134,973,977...134,975,788
Ensembl chr 5:134,973,973...134,975,788
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Clptm1
cleft lip and palate associated transmembrane protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26098869
NCBI chr 7:19,365,505...19,398,955
Ensembl chr 7:19,365,496...19,398,958
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818650
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818650
NCBI chr 4:135,622,500...135,647,530
Ensembl chr 4:135,622,705...135,647,518
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18223216
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18307536
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cycs
cytochrome c, somatic
ISO
RGD
PMID:11920648
RGD:2317614
NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518
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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:19642097
RGD:2317618
NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611
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Daxx
Fas death domain-associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21252315
NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
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Ddr1
discoidin domain receptor family, member 1
treatment
IAGP
RGD
PMID:31310125
RGD:151347425
NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513
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Dpyd
dihydropyrimidine dehydrogenase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:pancreas
CTD RGD
PMID:17443278 PMID:19020767 PMID:18309485 PMID:20072795
RGD:2317630 , RGD:2317629
NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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Dyrk1a
dual-specificity tyrosine phosphorylation regulated kinase 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31838052
NCBI chr16:94,370,770...94,496,378
Ensembl chr16:94,370,869...94,496,376
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E2f1
E2F transcription factor 1
treatment
ISO
RGD
PMID:28344092
RGD:13838737
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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Efemp1
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208748
NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743
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Egf
epidermal growth factor
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:1347773 PMID:19506583
RGD:2317650 , RGD:5490965
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27720938 PMID:17452677 PMID:19506583
RGD:5131631 , RGD:5490965
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Eif4a3
eukaryotic translation initiation factor 4A3
ISO
protein:increased expression:serum (human)
RGD
PMID:15796914
RGD:10045549
NCBI chr11:119,179,189...119,190,869
Ensembl chr11:119,179,189...119,190,915
G
Epcam
epithelial cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17446842
NCBI chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557
G
Epha3
Eph receptor A3
ISO
RGD
PMID:14670182
RGD:2317720
NCBI chr16:63,363,895...63,684,538
Ensembl chr16:63,363,897...63,684,538
G
Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
susceptibility
ISO
DNA:snp:3' utr:c.*197G>T (rs3212986) (human)
RGD
PMID:27050953
RGD:13207426
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
treatment
ISO
DNA,protein:SNPs:exons:rs1799793,rs1052559(human) pancreatic adenocarcinoma;DNA:SNPs: :rs1799793,rs1052555(human)
RGD
PMID:16458430 PMID:21404106 PMID:18544627
RGD:2317228 , RGD:11252206 , RGD:2317223
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
G
Ercc4
excision repair cross-complementing rodent repair deficiency, complementation group 4
ISO
pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human)
RGD
PMID:18544627
RGD:2317223
NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481
G
Etaa1
Ewing tumor-associated antigen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26098869
NCBI chr11:17,888,753...17,903,875
Ensembl chr11:17,888,756...17,903,875
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
protein:increased expression:pancreas
RGD
PMID:22222375
RGD:9588324
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
G
Fanca
Fanconi anemia, complementation group A
ISO
DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human)
RGD
PMID:15591268
RGD:2317735
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
G
Fancc
Fanconi anemia, complementation group C
ISO
DNA:nonsense mutation (human)
RGD
PMID:15695377 PMID:16243825
RGD:2317239 , RGD:2317238
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
G
Fancg
Fanconi anemia, complementation group G
ISO
RGD
PMID:16243825
RGD:2317238
NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506
G
Fasl
Fas ligand
severity resistance
ISO
DNA:polymorphism:promoter:-844>>T (human)
RGD
PMID:11115536 PMID:12370548 PMID:18483392
RGD:2317745 , RGD:2317744 , RGD:2315744
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Fgf13
fibroblast growth factor 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19917848
NCBI chr X:58,107,499...58,630,932
Ensembl chr X:58,107,505...58,613,431
G
Fgf2
fibroblast growth factor 2
severity
ISO
mRNA:increased expression:pancreas protein:increased expression:bile
RGD
PMID:12670449 PMID:11562741 PMID:11478488 PMID:9293890
RGD:2317759 , RGD:2317760 , RGD:2317765 , RGD:2317762
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
G
Flt3l
FMS-like tyrosine kinase 3 ligand
ISO
RGD
PMID:16528542
RGD:11049499
NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856
G
Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25485836
NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
G
Fscn1
fascin actin-bundling protein 1
severity
ISO
protein:increased expression:pancreas
RGD
PMID:17696949
RGD:2317785
NCBI chr 5:142,946,110...142,958,944
Ensembl chr 5:142,946,098...142,958,940
G
Fxyd3
FXYD domain-containing ion transport regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16003754
NCBI chr 7:30,769,960...30,776,122
Ensembl chr 7:30,767,597...30,776,129
G
Gadd45a
growth arrest and DNA-damage-inducible 45 alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19003803
NCBI chr 6:67,012,080...67,014,391
Ensembl chr 6:67,012,080...67,014,441
G
Gdnf
glial cell line derived neurotrophic factor
severity
ISO
RGD
PMID:18652760
RGD:2324925
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
G
Gli1
GLI-Kruppel family member GLI1
ISO
RGD
PMID:21186299 PMID:18772397
RGD:5491005 , RGD:5490966
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
G
Gli3
GLI-Kruppel family member GLI3
ISO
RGD
PMID:18772397
RGD:5490966
NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
G
Gnas
GNAS complex locus
ISO
RGD
PMID:12771991
RGD:2317256
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
G
Golm1
golgi membrane protein 1
ISO
RGD
PMID:37338014
RGD:401827117
NCBI chr13:59,782,810...59,823,598
Ensembl chr13:59,782,440...59,823,625
G
Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:19786118 PMID:19536452
RGD:2317804 , RGD:2317805
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
G
Hgf
hepatocyte growth factor
ISO
protein:increased expression:serum
RGD
PMID:20017454
RGD:2317895
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
G
Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16628086
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
G
Hs3st2
heparan sulfate (glucosamine) 3-O-sulfotransferase 2
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:12527896
RGD:2317633
NCBI chr 7:120,990,785...121,196,555
Ensembl chr 7:120,991,082...121,100,993
G
Hspb1
heat shock protein 1
disease_progression
ISO
RGD
PMID:21833720
RGD:10402768
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
G
Icam1
intercellular adhesion molecule 1
ISO
mRNA, protein:increased expression:pancreas
RGD
PMID:11815996
RGD:2325165
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Ifna1
interferon alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17198089 PMID:17961653
NCBI chr 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893
G
Ifna5
interferon alpha 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15320962
NCBI chr 4:88,753,762...88,754,331
Ensembl chr 4:88,753,762...88,754,331
G
Ifng
interferon gamma
ISO
protein:increased expression:plasma
RGD
PMID:19152246
RGD:2317258
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Igf1
insulin-like growth factor 1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:19064563
RGD:2306689
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
G
Igf1r
insulin-like growth factor I receptor
ISO
RGD
PMID:14559833 PMID:19885860 PMID:19732452
RGD:2317651 , RGD:2317640 , RGD:2317642
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
G
Il10
interleukin 10
disease_progression susceptibility
ISO
protein:increased expression:serum DNA:polymorphism: :-1082G>A (human)
RGD
PMID:17235586 PMID:30304975 PMID:30610790 PMID:19250218
RGD:2317655 , RGD:14975257 , RGD:14975253 , RGD:2317653
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il13
interleukin 13
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:12808442 PMID:18758789
RGD:2317670 , RGD:2317669
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
G
Il13ra2
interleukin 13 receptor, alpha 2
treatment
ISO
RGD
PMID:11748276
RGD:8549514
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:7787209
RGD:2311069
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1b
interleukin 1 beta
susceptibility
ISO
DNA:polymorphisms:promoter:-511C>T, -31T>C (human) protein:increased expression:serum (human)
RGD
PMID:19251436 PMID:7787209
RGD:2317215 , RGD:2311069
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il2
interleukin 2
treatment
ISO
RGD
PMID:9080118
RGD:8663440
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il24
interleukin 24
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15580305
NCBI chr 1:130,809,801...130,815,153
Ensembl chr 1:130,809,811...130,815,191
G
Il3
interleukin 3
ISO
protein:increased expression:serum
RGD
PMID:15843207
RGD:2317663
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
G
Il4
interleukin 4
disease_progression
ISO IDA
protein:increased expression:blood
RGD
PMID:19957810 PMID:12097255 PMID:10404069
RGD:2317261 , RGD:2317265 , RGD:2317267
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Il4ra
interleukin 4 receptor, alpha
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:18758789
RGD:2317669
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
G
Il6
interleukin 6
disease_progression
ISO
RGD
PMID:30610790 PMID:30304975
RGD:14975253 , RGD:14975257
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Ilk
integrin linked kinase
ISO
DNA:mutations:exon
RGD
PMID:18772397
RGD:5490966
NCBI chr 7:105,385,797...105,392,132
Ensembl chr 7:105,385,799...105,392,132
G
Inpp4b
inositol polyphosphate-4-phosphatase, type II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29415082
NCBI chr 8:82,068,895...82,865,553
Ensembl chr 8:82,069,185...82,854,543
G
Ins2
insulin II
susceptibility disease_progression
ISO IDA
associated with Diabetes Mellitus DNA:Polymorphism:promoter:-23 HphI (human) associated with Diabetes Mellitus, Non-Insulin-Depend
RGD
PMID:19375425 PMID:19152242 PMID:19628082 PMID:19572116
RGD:2317250 , RGD:2317253 , RGD:2317245 , RGD:2317247
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
G
Itga11
integrin alpha 11
ISO
DNA:mutations:exon
RGD
PMID:18772397
RGD:5490966
NCBI chr 9:62,585,137...62,691,618
Ensembl chr 9:62,585,108...62,691,264
G
Itga4
integrin alpha 4
ISO
DNA:mutations:exon
RGD
PMID:18772397
RGD:5490966
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
G
Itga9
integrin alpha 9
ISO
DNA:mutations:exon
RGD
PMID:18772397
RGD:5490966
NCBI chr 9:118,435,777...118,730,071
Ensembl chr 9:118,435,758...118,730,071
G
Kdr
kinase insert domain protein receptor
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:12385004 PMID:19930156
RGD:5684397
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
G
Klf5
Kruppel-like transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26098869
NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472
G
Kras
Kirsten rat sarcoma viral oncogene homolog
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:14520703 PMID:19424582 PMID:21699781 PMID:24694877 PMID:25961927 PMID:26390243 PMID:11115351 PMID:18772397 PMID:19506583 More...
RGD:1581761 , RGD:5490966 , RGD:5490965
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
G
L1cam
L1 cell adhesion molecule
treatment
ISO
RGD
PMID:22095073
RGD:11570404
NCBI chr X:72,897,384...72,924,843
Ensembl chr X:72,897,384...72,939,711
G
Ldha
lactate dehydrogenase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29384525
NCBI chr 7:46,491,698...46,505,051
Ensembl chr 7:46,490,899...46,505,051
G
Lig3
ligase III, DNA, ATP-dependent
resistance
ISO
DNA:SNP:intron:rs 2074522 (human)
RGD
PMID:19147782
RGD:2317363
NCBI chr11:82,671,977...82,695,100
Ensembl chr11:82,671,934...82,695,100
G
Lig4
ligase IV, DNA, ATP-dependent
susceptibility
ISO
associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human)
RGD
PMID:19147782
RGD:2317363
NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686
G
Lrp2
low density lipoprotein receptor-related protein 2
ISO
RGD
PMID:18772397
RGD:5490966
NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409
G
Lum
lumican
disease_progression
ISO
DNA:SNP: :rs2268578 (human)
RGD
PMID:19843670 PMID:17671699
RGD:2317230 , RGD:2317682
NCBI chr10:97,401,363...97,408,565
Ensembl chr10:97,400,990...97,408,565
G
Ly6e
lymphocyte antigen 6 family member E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17446842
NCBI chr15:74,826,874...74,831,753
Ensembl chr15:74,826,900...74,831,752
G
Manf
mesencephalic astrocyte-derived neurotrophic factor
no_association
ISO
DNA:polymorphisms: :multiple (human) DNA:point mutations, deletions:cds:multiple (human)
RGD
PMID:17072959 PMID:9174057
RGD:2317157 , RGD:2325804
NCBI chr 9:106,765,952...106,769,137
Ensembl chr 9:106,715,511...106,769,178
G
Map2k4
mitogen-activated protein kinase kinase 4
ISO
RGD
PMID:18772397
RGD:5490966
NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123
G
Men1
multiple endocrine neoplasia 1
ISO
associated with Neuroendocrine Tumors; protein:increased expression:multiple organs CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17961653 PMID:21252315 PMID:17278096
RGD:2317340
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Met
met proto-oncogene
severity
ISO
protein:increased expression:pancreas (rat) mRNA:increased expression:pancreas (human)
RGD
PMID:9211490 PMID:19506583 PMID:15448002
RGD:2317613 , RGD:5490965 , RGD:2317235
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
G
Mgat4a
mannoside acetylglucosaminyltransferase 4, isoenzyme A
ISO
RGD
PMID:16434023
RGD:2317701
NCBI chr 1:37,478,421...37,580,599
Ensembl chr 1:37,478,421...37,580,097
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
protein:decreased expression:neuroendocrine tumor (human)
RGD
PMID:19118063
RGD:2317628
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mir107
microRNA 107
severity
ISO
RGD
PMID:28720759
RGD:14975279
NCBI chr19:34,798,087...34,798,173
Ensembl chr19:34,798,087...34,798,173
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Mir1193
microRNA 1193
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29859832
NCBI chr12:109,682,105...109,682,225
Ensembl chr12:109,682,105...109,682,225
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Mki67
antigen identified by monoclonal antibody Ki 67
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:20137856 PMID:20350215
RGD:2317704 , RGD:2317703
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
G
Mmp2
matrix metallopeptidase 2
ISO
mRNA:increased expression:pancreas CTD Direct Evidence: marker/mechanism protein:increased activity:pancreatic juice
CTD RGD
PMID:30603057 PMID:7635566 PMID:11961486
RGD:2325766 , RGD:2325752
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
disease_progression
ISO IMP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:pancreas
CTD RGD
PMID:22952646 PMID:19629003 PMID:18030366 PMID:18445772 PMID:7635566
RGD:2325831 , RGD:2325854 , RGD:2325849 , RGD:2325766
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
G
Mpo
myeloperoxidase
resistance
ISO
DNA:polymorphism:promoter:-463G>A (human)
RGD
PMID:18205184
RGD:2317406
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Msln
mesothelin
ISO
associated with Pancreatic Disease; protein:increased expression:pancreas CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11751476 PMID:17019794 PMID:18281514 PMID:17785569 PMID:19843662
RGD:2326060 , RGD:2326056 , RGD:2326062 , RGD:2326052
NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352
G
Mtap
methylthioadenosine phosphorylase
ISO
DNA, protein:deletion, decreased activity:pancreas:
RGD
PMID:15534104
RGD:2317952
NCBI chr 4:89,055,607...89,099,327
Ensembl chr 4:89,055,359...89,099,318
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism: :677C>T (human)
RGD
PMID:16737574
RGD:2317120
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:23149918
RGD:10040959
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility no_association
ISO
DNA:Polymorphism: :rs1805087 (human)
RGD
PMID:18843018 PMID:16737574
RGD:2317118 , RGD:2317120
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
G
Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G (human) DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human)
RGD
PMID:18843018 PMID:18515090
RGD:2317118 , RGD:2325772
NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268
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Muc1
mucin 1, transmembrane
disease_progression
ISO
protein:increased expression:pancreas protein:increased secretion:bile
RGD
PMID:14654947 PMID:18039393 PMID:18383873 PMID:19129927 PMID:19055478 PMID:18575732 More...
RGD:2317984 , RGD:2324639 , RGD:2324637 , RGD:2317987 , RGD:2324622 , RGD:2324635
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Muc16
mucin 16
ISO
protein:increased expression:serum
RGD
PMID:19377061
RGD:2325129
NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826
G
Muc4
mucin 4
disease_progression
ISO
mRNA:increased expression:peripheral blood mononuclear cell protein:increased expression:pancreas mRNA:increased expression:pancreas
RGD
PMID:16274046 PMID:17595659 PMID:20303649 PMID:11751498 PMID:17406026
RGD:2324931 , RGD:2324922 , RGD:2324914 , RGD:2324891 , RGD:2324923
NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
protein:increased expression:pancreas protein:increased glycosylation:serum
RGD
PMID:14654947 PMID:19377061
RGD:2317984 , RGD:2325129
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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Muc6
mucin 6, gastric
ISO
protein:increased expression: :
RGD
PMID:10209489
RGD:2325167
NCBI chr 7:141,212,404...141,241,659
Ensembl chr 7:141,213,373...141,241,641
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Myc
myelocytomatosis oncogene
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25961927 PMID:22024988
RGD:7240699
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Nap1l1
nucleosome assembly protein 1-like 1
ISO
human gene in a mouse model
RGD
PMID:25071868
RGD:9590074
NCBI chr10:111,308,754...111,334,011
Ensembl chr10:111,309,084...111,334,011
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Nat1
N-acetyl transferase 1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphisms,haplotype: :
RGD
PMID:18499698 PMID:18006927 PMID:18006927
RGD:2317168 , RGD:2317170 , RGD:2317170
NCBI chr 8:67,943,620...67,945,183
Ensembl chr 8:67,933,573...67,944,756
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Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:18027363
RGD:2317169
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
G
Ncam1
neural cell adhesion molecule 1
severity disease_progression
ISO
RGD
PMID:10374842 PMID:11249065
RGD:2326075 , RGD:2326074
NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225
G
Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15861417
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
severity
ISO
mRNA:increased expression:tumor:associated with longer overall survival (human)
RGD
PMID:16704535
RGD:5508229
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nos2
nitric oxide synthase 2, inducible
disease_progression
IMP IDA ISO
protein:increased expression:pancreas
RGD
PMID:11196200 PMID:11687972 PMID:15165031
RGD:2325262 , RGD:2325257 , RGD:2325248
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Notch1
notch 1
disease_progression
IMP
protein:increased expression:pancreas
RGD
PMID:17297654
RGD:2325328
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
G
Nr4a1
nuclear receptor subfamily 4, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20660371
NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676
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Nr5a2
nuclear receptor subfamily 5, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20101243 PMID:26098869
NCBI chr 1:136,770,300...136,888,186
Ensembl chr 1:136,770,309...136,888,186
G
Nrp1
neuropilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15956974
NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844
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Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
severity
ISO
mRNA:increased expression:tumor:associated with increased tumor aggressiveness (human)
RGD
PMID:16704535
RGD:5508229
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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Nuf2
NUF2, NDC80 kinetochore complex component
treatment
ISO
mRNA:increased expression:pancreas
RGD
PMID:26045769 PMID:25370920
RGD:11058437 , RGD:28867232
NCBI chr 1:169,325,503...169,359,033
Ensembl chr 1:169,325,503...169,359,033
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Ogg1
8-oxoguanine DNA-glycosylase 1
disease_progression
ISO
DNA:polymorphism: :rs1052133 (human) DNA:polymorphism: :2657G>A (human)
RGD
PMID:18559563 PMID:17230526
RGD:2317130 , RGD:2317132
NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
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Palb2
partner and localizer of BRCA2
susceptibility
ISO
DNA:nonsense mutations:exon:172_175del, 3116del, 3256C>T (human) ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:100849 PMID:16199547 PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:19264984 PMID:19584259 PMID:19609323 PMID:20122277 PMID:20412113 PMID:20582465 PMID:20589654 PMID:20852946 PMID:20927582 PMID:21165770 PMID:21182766 PMID:21285249 PMID:21365267 PMID:21409391 PMID:21618343 PMID:21932393 PMID:22241545 PMID:22692731 PMID:23110154 PMID:23448497 PMID:23471749 PMID:23555315 PMID:23561644 PMID:23787919 PMID:23824750 PMID:23935836 PMID:23977390 PMID:24033266 PMID:24061862 PMID:24136930 PMID:24206657 PMID:24415441 PMID:24448499 PMID:24556926 PMID:24728327 PMID:24763289 PMID:24870022 PMID:24949998 PMID:25085752 PMID:25099575 PMID:25186627 PMID:25225577 PMID:25330149 PMID:25356972 PMID:25428789 PMID:25452441 PMID:25479140 PMID:25525159 PMID:25575445 PMID:25741868 PMID:25959805 PMID:25980754 PMID:26023681 PMID:26083025 PMID:26098869 PMID:26270727 PMID:26283626 PMID:26296701 PMID:26315354 PMID:26411315 PMID:26467025 PMID:26489409 PMID:26534844 PMID:26556299 PMID:26564480 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26786923 PMID:26845104 PMID:26898890 PMID:26976419 PMID:26990772 PMID:27038244 PMID:27099641 PMID:27106063 PMID:27153395 PMID:27356891 PMID:27433846 PMID:27449771 PMID:27553368 PMID:27595995 PMID:27624329 PMID:27783279 PMID:27829436 PMID:27878467 PMID:28008555 PMID:28158555 PMID:28194609 PMID:28279176 PMID:28319063 PMID:28492532 PMID:28528518 PMID:28580595 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825143 PMID:28828701 PMID:28864920 PMID:28873162 PMID:28944238 PMID:29052111 PMID:29335925 PMID:29360161 PMID:29387807 PMID:29431189 PMID:29470806 PMID:29478780 PMID:29506128 PMID:29522266 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29909963 PMID:29945567 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113427 PMID:30128536 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30337689 PMID:30374176 PMID:30541756 PMID:30638972 PMID:30651582 PMID:30665703 PMID:30720863 PMID:30833416 PMID:30890586 PMID:31090900 PMID:31159747 PMID:31206626 PMID:31214711 PMID:31263054 PMID:31312277 PMID:31447099 PMID:31451522 PMID:31467304 PMID:31512090 PMID:31570822 PMID:31575519 PMID:31586400 PMID:31619740 PMID:31636395 PMID:31721781 PMID:31757951 PMID:31768816 PMID:31841383 PMID:31843900 PMID:31844177 PMID:31921681 PMID:32012241 PMID:32048105 PMID:32068069 PMID:32081490 PMID:32295079 PMID:32338768 PMID:32339256 PMID:32426482 PMID:32522261 PMID:32546565 PMID:32554798 PMID:32566746 PMID:32581362 PMID:32658311 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32868316 PMID:32885271 PMID:32980694 PMID:32997802 PMID:33139182 PMID:33169439 PMID:33195396 PMID:33309985 PMID:33320972 PMID:33471991 PMID:33558524 PMID:33630411 PMID:33674644 PMID:33917078 PMID:33964450 PMID:33980423 PMID:34034685 PMID:34113003 PMID:34284872 PMID:34426522 PMID:34439348 PMID:34478935 PMID:34846068 PMID:35263119 PMID:35264596 PMID:35610400 PMID:36605468 PMID:36988593 PMID:37013556 PMID:37239058 PMID:19264984 More...
RGD:2325776
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Palld
palladin, cytoskeletal associated protein
susceptibility
ISO IEP
DNA, mRNA:missense mutation, increased expression:pancreas:p.P239S (human) ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 CTD Direct Evidence: marker/mechanism protein:increased expression, alternative form:pancreas, fibroblast
ClinVar CTD OMIM RGD
PMID:10454945 PMID:11474289 PMID:17194196 PMID:17415588 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33764904 PMID:17194196 PMID:20436683 More...
RGD:2325782 , RGD:2325779
NCBI chr 8:61,964,465...62,355,741
Ensembl chr 8:61,964,467...62,355,724
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Pbrm1
polybromo 1
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr14:30,741,095...30,843,549
Ensembl chr14:30,741,095...30,843,549
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
mRNA:increased expression:pancreas
RGD
PMID:7665222 PMID:14695158
RGD:2324851 , RGD:2324850
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pdx1
pancreatic and duodenal homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19077462 PMID:25086665 PMID:26098869
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
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Pfn1
profilin 1
ISO
RGD
PMID:16215274
RGD:2317552
NCBI chr11:70,542,670...70,547,625
Ensembl chr11:70,542,676...70,545,470
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467400
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Polb
polymerase (DNA directed), beta
disease_progression
ISO
DNA:polymorphisms: :165A>G, 2133T>C (human)
RGD
PMID:17230526
RGD:2317132
NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451
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Ppard
peroxisome proliferator activator receptor delta
disease_progression
IMP ISO
RGD
PMID:17652168 PMID:17652168
RGD:2324872 , RGD:2324872
NCBI chr17:28,451,715...28,520,446
Ensembl chr17:28,451,674...28,520,448
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Pparg
peroxisome proliferator activated receptor gamma
susceptibility
ISO
CTD Direct Evidence: marker/mechanism|therapeutic DNA:polymorphism: :p.P12A (human)
CTD RGD
PMID:11034103 PMID:11741176 PMID:19152448 PMID:19436234
RGD:2317462 , RGD:2317460
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ptch1
patched 1
ISO
protein:increased expression:pancreas CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19077462 PMID:19396459
RGD:2324910
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19917848 PMID:19506583
RGD:5490965
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
DNA:polymorphisms: :-1195A>A ,-765G>C (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :-1195A > G, -765G > C (human) mRNA, protein:increased expression:pancreas
CTD RGD
PMID:10485483 PMID:10657949 PMID:15705899 PMID:16820089 PMID:19422084 PMID:19062735 PMID:20216081 PMID:19820419 More...
RGD:2317184 , RGD:5135527 , RGD:2317175 , RGD:2317179
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Pthlh
parathyroid hormone-like peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17625444
NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681
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Rabl3
RAB, member RAS oncogene family-like 3
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 5
CTD OMIM ClinVar
PMID:31406347
NCBI chr16:37,360,220...37,392,747
Ensembl chr16:37,360,247...37,392,747
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Rad51
RAD51 recombinase
ISO
protein:increased expression:pancreas (rat)
RGD
PMID:20197614
RGD:9831172
NCBI chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926
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Rad54l
RAD54 like (S. cerevisiae)
ISO
DNA:SNP:exon:rs1048771 (human)
RGD
PMID:16540687
RGD:2317365
NCBI chr 4:115,951,458...115,980,875
Ensembl chr 4:115,951,461...115,980,887
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Rap1gap
Rap1 GTPase-activating protein
ISO
mRNA:decreased expression:pancreas (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22614916 PMID:16424023
RGD:9835037
NCBI chr 4:137,391,549...137,457,172
Ensembl chr 4:137,392,037...137,457,172
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21699781
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Recql
RecQ protein-like
ISO
DNA:SNPs:introns DNA:SNP:3'utr:rs13035 (human)
RGD
PMID:19768149 PMID:18422747 PMID:16540687
RGD:2317369 , RGD:2317370 , RGD:2317365
NCBI chr 6:142,296,068...142,332,802
Ensembl chr 6:142,296,068...142,332,813
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
RGD
PMID:9918209
RGD:2298892
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Ret
ret proto-oncogene
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:16269310
RGD:2324926
NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
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Rhbdd1
rhomboid domain containing 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:35442567
NCBI chr 1:82,294,178...82,423,087
Ensembl chr 1:82,294,173...82,423,087
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Rrm2
ribonucleotide reductase M2
ISO
RGD
PMID:19568409
RGD:2324950
NCBI chr12:24,758,253...24,764,145
Ensembl chr12:24,758,240...24,764,145
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Runx3
runt related transcription factor 3
disease_progression
ISO
DNA:hypermethylation, loss of heterozygosity (human)
RGD
PMID:18475302
RGD:2324956
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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Rxra
retinoid X receptor alpha
ISO
RGD
PMID:19152448
RGD:2317462
NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969
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Sel1l
sel-1 suppressor of lin-12-like (C. elegans)
ISO
RGD
PMID:14508516
RGD:2317190
NCBI chr12:91,772,817...91,815,931
Ensembl chr12:91,772,817...91,815,931
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Serpina1e
serine (or cysteine) peptidase inhibitor, clade A, member 1E
disease_progression
ISO
RGD
PMID:2323846
RGD:2324960
NCBI chr12:103,913,190...103,923,156
Ensembl chr12:103,913,190...103,925,234
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Sf3b4
splicing factor 3b, subunit 4
ISO
mRNA, protein:decreased expression:pancreas (human)
RGD
PMID:28351319
RGD:155804299
NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880
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Shh
sonic hedgehog
ISO
RGD
PMID:19506583
RGD:5490965
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Sinhcaf
SIN3-HDAC complex associated factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35213078
NCBI chr 6:148,822,538...148,847,968
Ensembl chr 6:148,822,533...148,847,965
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Slc1a5
solute carrier family 1 (neutral amino acid transporter), member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35929395
NCBI chr 7:16,515,259...16,532,199
Ensembl chr 7:16,515,265...16,532,199
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Slc29a1
solute carrier family 29 (nucleoside transporters), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18728667
NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532
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Slco2b1
solute carrier organic anion transporter family, member 2b1
ISO
mRNA:decreased expression:pancreas (human)
RGD
PMID:21625523
RGD:152995425
NCBI chr 7:99,307,011...99,360,547
Ensembl chr 7:99,307,011...99,360,547
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Smad2
SMAD family member 2
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:10505717
RGD:14394490
NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034
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Smad3
SMAD family member 3
ISO
DNA:mutations:exon
RGD
PMID:18772397
RGD:5490966
NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276
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Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:exon
OMIM CTD RGD
PMID:18772397
RGD:5490966
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Smad7
SMAD family member 7
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:10498890
RGD:14394510
NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
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Smo
smoothened, frizzled class receptor
treatment
ISO IMP
protein:increased expression:pancreas
RGD
PMID:19396459 PMID:22859707 PMID:19460966
RGD:2324910 , RGD:150340554 , RGD:2324978
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Smurf1
SMAD specific E3 ubiquitin protein ligase 1
ISO
RGD
PMID:17726579
RGD:2302550
NCBI chr 5:144,813,305...144,902,657
Ensembl chr 5:144,813,305...144,902,657
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Sncg
synuclein, gamma
ISO
RGD
PMID:15221989
RGD:6478801
NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
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Snw1
SNW domain containing 1
susceptibility
ISO
DNA:snp:intron: T>A (human) (rs1477261)
RGD
PMID:20056645
RGD:11035249
NCBI chr12:87,496,680...87,519,069
Ensembl chr12:87,495,845...87,519,044
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Sod1
superoxide dismutase 1, soluble
ISO
protein:decreased expression:pancreas
RGD
PMID:12499913
RGD:2317410
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Sod2
superoxide dismutase 2, mitochondrial
susceptibility disease_progression
ISO
DNA:polymorphism:cds:p.A16V (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:pancreas
CTD RGD
PMID:11328670 PMID:17895890 PMID:18205184 PMID:12700280 PMID:12499913
RGD:2317406 , RGD:1581235 , RGD:2317410
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19896093
NCBI chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15970685
RGD:1581363
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2868874
NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
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Sstr1
somatostatin receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17625444
NCBI chr12:58,258,524...58,262,822
Ensembl chr12:58,258,558...58,260,673
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Sstr2
somatostatin receptor 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15259086 PMID:17625444 PMID:19917848
NCBI chr11:113,510,153...113,516,854
Ensembl chr11:113,510,168...113,516,854
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Sstr3
somatostatin receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17625444
NCBI chr15:78,421,214...78,433,565
Ensembl chr15:78,421,208...78,428,885
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22348037 PMID:23845849
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stk11
serine/threonine kinase 11
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
PMID:26098869
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Sugct
succinyl-CoA glutarate-CoA transferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26098869
NCBI chr13:17,032,057...17,869,380
Ensembl chr13:17,032,057...17,870,138
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Sycp1
synaptonemal complex protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14991579
NCBI chr 3:102,725,815...102,843,416
Ensembl chr 3:102,725,815...102,843,416
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Tcf7l2
transcription factor 7 like 2, T cell specific, HMG box
ISO
DNA:mutations:exon
RGD
PMID:18772397
RGD:5490966
NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25086665 PMID:26098869
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Tfpi2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16965396
NCBI chr 6:3,962,589...3,988,977
Ensembl chr 6:3,962,595...3,988,919
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Tgfa
transforming growth factor alpha
ISO
mRNA, protein:increased expression:pancreas
RGD
PMID:1401070 PMID:19506583 PMID:17785207
RGD:2317473 , RGD:5490965 , RGD:2317468
NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:23992306 PMID:18787407 PMID:16933058
RGD:2325015 , RGD:2325018
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tgfbr2
transforming growth factor, beta receptor II
disease_progression
ISO
DNA:deletion, frameshift mutations (human) DNA:mutations:exon protein:increased expresssion:pancreas mRNA:increased expresssion:pancreas
RGD
PMID:9850059 PMID:18772397 PMID:11866987 PMID:9365135
RGD:2317501 , RGD:5490966 , RGD:2317499 , RGD:2317502
NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428
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Tgm2
transglutaminase 2, C polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30108682
NCBI chr 2:157,958,325...157,988,312
Ensembl chr 2:157,958,322...157,988,356
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Thbs1
thrombospondin 1
disease_progression
ISO
DNA:hypermethylation (human)
RGD
PMID:10766168 PMID:20203415 PMID:16757110
RGD:2325028 , RGD:2325021 , RGD:2325023
NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16211219
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfsf10
tumor necrosis factor (ligand) superfamily, member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11234897
NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
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Trp53
transformation related protein 53
ISO EXP
DNA:mutations:exon CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23873029 PMID:26390243 PMID:18772397
RGD:5490966
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Trp53bp1
transformation related protein 53 binding protein 1
IMP
RGD
PMID:11585747
RGD:2325154
NCBI chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888
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Trp63
transformation related protein 63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26098869
NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19917848
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Tymp
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17443278 PMID:19671868
RGD:2325156
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Tyms
thymidylate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19020767
NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615
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Uck2
uridine-cytidine kinase 2
ISO
protein:increased expression:pancreatic neoplasm (human)
RGD
PMID:12149149
RGD:5133269
NCBI chr 1:167,050,464...167,112,657
Ensembl chr 1:167,050,452...167,112,889
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Ugt1a7c
UDP glucuronosyltransferase 1 family, polypeptide A7C
no_association
ISO
DNA:polymorphisms: :multiple (human) DNA:polymorphisms: :p.N129K, p.R131K, p.W208R (human)
RGD
PMID:17072959 PMID:12806614
RGD:2317157 , RGD:2317503
NCBI chr 1:88,022,723...88,147,724
Ensembl chr 1:88,022,784...88,147,724
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Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:17652277
RGD:2325162
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vegfb
vascular endothelial growth factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24604347
NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
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Vhl
von Hippel-Lindau tumor suppressor
ISO
DNA:hypermethylation, deletion:promoter (human) associated with Hippel-Lindau Disease;DNA:missense mutation:exon:p.R238Q (human)
RGD
PMID:19690016 PMID:9488521
RGD:2325169 , RGD:2325176
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Wnt9a
wingless-type MMTV integration site family, member 9A
ISO
DNA:mutations:exon
RGD
PMID:18772397
RGD:5490966
NCBI chr11:59,197,675...59,224,378
Ensembl chr11:59,197,754...59,224,378
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19196508
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Xpc
xeroderma pigmentosum, complementation group C
ISO
DNA:polymorphism:intron:AF076952 (human)
RGD
PMID:18559563
RGD:2317130
NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870
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Xpo1
exportin 1
exacerbates
ISO
protein:increased expression:pancreas (human)
RGD
PMID:20003838
RGD:151665797
NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249
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Xpo5
exportin 5
IEP
mRNA:decreased expression:pancreas (mouse)
RGD
PMID:26516699
RGD:11041739
NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
ISO
DNA:SNP:exon:rs1799782 (human)
RGD
PMID:16520463
RGD:2317367
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Xrcc2
X-ray repair complementing defective repair in Chinese hamster cells 2
ISO
DNA:SNP:exon:rs3218536 (human) DNA:polymorphism: :p.R188H (human)
RGD
PMID:16540687 PMID:17986315
RGD:2317365 , RGD:2317507
NCBI chr 5:25,894,812...25,910,795
Ensembl chr 5:25,894,810...25,910,823
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Xrcc3
X-ray repair complementing defective repair in Chinese hamster cells 3
ISO
DNA:SNP:cd:rs861539 (human)
RGD
PMID:18559563
RGD:2317130
NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
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Znrf3
zinc and ring finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25086665 PMID:26098869
NCBI chr11:5,226,329...5,394,847
Ensembl chr11:5,226,324...5,394,847
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:988733 PMID:1849795 PMID:3338800 PMID:8808599 PMID:9443866 PMID:9536098 PMID:9887333 PMID:10330348 PMID:10817650 PMID:10980530 PMID:12497634 PMID:12673797 PMID:12810666 PMID:14586414 PMID:14970866 PMID:15101044 PMID:15390180 PMID:16266405 PMID:17576681 PMID:18497957 PMID:20153123 PMID:21833744 PMID:22585167 PMID:23454770 PMID:23807571 PMID:24556621 PMID:25614872 PMID:25741868 PMID:26483394 PMID:26506520 PMID:26822949 PMID:27159176 PMID:28492532 PMID:29678143 PMID:29758562 PMID:31012270 PMID:32295079 PMID:33919281 PMID:34337741 PMID:34377931 PMID:34680878 PMID:35078243 PMID:36029002 PMID:36988593 PMID:37445923 More...
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Acvr1b
activin A receptor, type 1B
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
PMID:11248065
NCBI chr15:101,071,953...101,111,565
Ensembl chr15:101,071,948...101,111,565
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:988733 PMID:1849795 PMID:3338800 PMID:8808599 PMID:9443866 PMID:9536098 PMID:9887333 PMID:10330348 PMID:10817650 PMID:10980530 PMID:12497634 PMID:12673797 PMID:12810666 PMID:14586414 PMID:14970866 PMID:15101044 PMID:15390180 PMID:16266405 PMID:17576681 PMID:18497957 PMID:20153123 PMID:21833744 PMID:22585167 PMID:23454770 PMID:23807571 PMID:24556621 PMID:25614872 PMID:25741868 PMID:26483394 PMID:26506520 PMID:26822949 PMID:27159176 PMID:28492532 PMID:29678143 PMID:29758562 PMID:31012270 PMID:32295079 PMID:33919281 PMID:34337741 PMID:34377931 PMID:34680878 PMID:35078243 PMID:36029002 PMID:36988593 PMID:37445923 More...
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Brca1
breast cancer 1, early onset
ISO
ClinVar Annotator: match by term: Carcinoma of head of pancreas | ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
PMID:9150174 PMID:10667592 PMID:10667595 PMID:11802209 PMID:12566964 PMID:15024741 PMID:16168118 PMID:16284991 PMID:16685647 PMID:18489799 PMID:19147582 PMID:19340607 PMID:20104584 PMID:25452441 PMID:25741868 PMID:25777348 PMID:26467025 PMID:26681312 PMID:28324225 PMID:28492532 PMID:29446198 PMID:30257646 PMID:30702160 PMID:32295079 More...
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
PMID:8665505 PMID:9150150 PMID:9361038 PMID:9536098 PMID:9585613 PMID:9667259 PMID:9971877 PMID:10699917 PMID:10923033 PMID:11039575 PMID:11179017 PMID:11207042 PMID:11251181 PMID:11802209 PMID:11938448 PMID:12181777 PMID:12204006 PMID:14559878 PMID:14973102 PMID:15024741 PMID:15070707 PMID:15117986 PMID:15131399 PMID:15290653 PMID:15382066 PMID:15548363 PMID:15689453 PMID:15695382 PMID:16455195 PMID:16489001 PMID:16683254 PMID:16905680 PMID:16978908 PMID:17100994 PMID:17262179 PMID:17576681 PMID:18042939 PMID:18182994 PMID:18451181 PMID:18489799 PMID:18497862 PMID:18607349 PMID:18819001 PMID:18951461 PMID:19043619 PMID:19052777 PMID:19491284 PMID:19499246 PMID:19656164 PMID:19796187 PMID:19912264 PMID:20104584 PMID:20694749 PMID:21232165 PMID:21324516 PMID:21465317 PMID:21497495 PMID:21548014 PMID:21559243 PMID:21702907 PMID:21735045 PMID:21952622 PMID:21990134 PMID:22144684 PMID:22217648 PMID:22382806 PMID:22430266 PMID:22505045 PMID:22535016 PMID:22682623 PMID:22729890 PMID:22762150 PMID:22798144 PMID:22866093 PMID:23108138 PMID:23199084 PMID:23451180 PMID:23569316 PMID:23683081 PMID:23961350 PMID:23977390 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24156927 PMID:24312913 PMID:24323938 PMID:24333842 PMID:24728189 PMID:25072261 PMID:25085752 PMID:25146914 PMID:25381700 PMID:25382762 PMID:25479140 PMID:25525159 PMID:25741868 PMID:25782689 PMID:25802882 PMID:25863477 PMID:25884701 PMID:26014432 PMID:26026974 PMID:26187060 PMID:26295337 PMID:26467025 PMID:26541979 PMID:26681312 PMID:26709275 PMID:26787237 PMID:26834852 PMID:27153395 PMID:27741520 PMID:27767231 PMID:28008555 PMID:28111427 PMID:28283652 PMID:28324225 PMID:28349240 PMID:28423363 PMID:28477318 PMID:28486781 PMID:28492532 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28782087 PMID:28802053 PMID:29020732 PMID:29084914 PMID:29176636 PMID:29339979 PMID:29360161 PMID:29394989 PMID:29433453 PMID:29446198 PMID:29625052 PMID:29758562 PMID:29785153 PMID:29907814 PMID:29988080 PMID:30257646 PMID:30262796 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30609409 PMID:30702160 PMID:30715675 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30787465 PMID:31131967 PMID:31263054 PMID:31589614 PMID:31853058 PMID:32022259 PMID:32206145 PMID:32255556 PMID:32295079 PMID:32365798 PMID:32444794 PMID:32489267 PMID:32606146 PMID:32719484 PMID:32850417 PMID:32853339 PMID:33087929 PMID:33471991 PMID:33606809 PMID:33609447 PMID:33964450 PMID:34399810 PMID:36169650 PMID:36329109 PMID:36988593 PMID:36998040 More...
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Brip1
BRCA1 interacting protein C-terminal helicase 1
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:16116423 PMID:17033622 PMID:21964575 PMID:25330149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28888541 PMID:29961768 PMID:30680046 PMID:31173646 PMID:31512090 PMID:31589614 PMID:32295079 PMID:32885271 PMID:33471991 More...
NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019
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Cbr4
carbonyl reductase 4
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
PMID:17194196 PMID:28166811 PMID:28492532
NCBI chr 8:61,940,768...61,956,534
Ensembl chr 8:61,940,768...61,959,728
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
RGD
PMID:9252195
RGD:8662427
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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Cdkn2a
cyclin dependent kinase inhibitor 2A
susceptibility
ISO
DNA:insertion:cds:p.R112_L113insR (human)
RGD
PMID:10922411
RGD:8552383
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Chd3
chromodomain helicase DNA binding protein 3
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:21472101
RGD:9587766
NCBI chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:9536098 PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16794575 PMID:16880452 PMID:17085682 PMID:17576681 PMID:18172190 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21244692 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22114986 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23415889 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24723567 PMID:24884479 PMID:25085752 PMID:25186627 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28580595 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29785007 PMID:29909568 PMID:30128536 PMID:30264118 PMID:30303537 PMID:30322717 PMID:30851065 PMID:31050813 PMID:31118792 PMID:31300551 PMID:31422574 PMID:31843900 PMID:31993860 PMID:32068069 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32658311 PMID:32805687 PMID:32860008 PMID:32906215 PMID:33050356 PMID:33471991 PMID:34606182 PMID:35155181 PMID:36222830 PMID:36521553 PMID:37055167 PMID:37149759 PMID:37239058 PMID:37449874 More...
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Ercc4
excision repair cross-complementing rodent repair deficiency, complementation group 4
ISO
ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:27356891 PMID:27528516 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29403087 PMID:29892709 PMID:31692161 More...
NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481
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Fance
Fanconi anemia, complementation group E
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
PMID:11001585 PMID:17924555 PMID:21279724 PMID:25741868 PMID:26822949 PMID:28492532 More...
NCBI chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546
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Fancg
Fanconi anemia, complementation group G
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
severity
ISO
protein:increased expression:pancreas (rat)
RGD
PMID:21472101
RGD:9587766
NCBI chr 6:51,437,414...51,448,054
Ensembl chr 6:51,437,912...51,446,874
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Hoxb13
homeobox B13
ISO
ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:8756292 PMID:15964834 PMID:17138648 PMID:22236224 PMID:22714738 PMID:22781434 PMID:22841674 PMID:22853031 PMID:23064873 PMID:23292082 PMID:23457453 PMID:23518396 PMID:24026887 PMID:25206306 PMID:25629170 PMID:25741868 PMID:26108461 PMID:26467025 PMID:26517352 PMID:26845104 PMID:27153395 PMID:27424772 PMID:27626483 PMID:27902461 PMID:28050579 PMID:28492532 PMID:28798948 PMID:30527799 PMID:30560549 PMID:32546843 More...
NCBI chr11:96,085,142...96,087,436
Ensembl chr11:96,085,142...96,088,273
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Kdr
kinase insert domain protein receptor
treatment
ISO
RGD
PMID:17414626
RGD:126848809
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Kras
Kirsten rat sarcoma viral oncogene homolog
IAGP ISO
OMIM:260350 ClinVar Annotator: match by term: PANCREATIC CARCINOMA
MouseDO ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26372703 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:28660759
RGD:24922217
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mtor
mechanistic target of rapamycin kinase
treatment
IMP
RGD
PMID:25425965
RGD:11570510
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:12845677 PMID:14973119 PMID:15185344 PMID:15279809 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22941933 PMID:23317186 PMID:24033266 PMID:24113799 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:28873162 PMID:29368341 PMID:29419426 PMID:30426508 PMID:31173646 PMID:32295079 PMID:33050356 PMID:33471974 PMID:33471991 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34544220 PMID:35309086 More...
NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:20122277 PMID:20412113 PMID:20582465 PMID:20589654 PMID:21165770 PMID:21285249 PMID:21365267 PMID:24061862 PMID:24136930 PMID:24415441 PMID:25099575 PMID:25186627 PMID:25330149 PMID:25452441 PMID:25741868 PMID:25959805 PMID:26083025 PMID:26270727 PMID:26467025 PMID:26689913 PMID:26720728 PMID:26845104 PMID:27038244 PMID:27099641 PMID:27106063 PMID:28158555 PMID:28279176 PMID:28492532 PMID:28709830 PMID:29052111 PMID:29478780 PMID:29625052 PMID:30086788 PMID:30113427 PMID:30833416 PMID:31159747 PMID:31312277 PMID:31570822 PMID:32295079 PMID:32546565 PMID:32554798 PMID:32853339 PMID:32885271 PMID:32997802 PMID:33471991 PMID:33674644 More...
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Palld
palladin, cytoskeletal associated protein
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
PMID:17194196 PMID:28166811 PMID:28492532
NCBI chr 8:61,964,465...62,355,741
Ensembl chr 8:61,964,467...62,355,724
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Pold1
polymerase (DNA directed), delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273
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Raf1
v-raf-leukemia viral oncogene 1
ISO
mRNA:increased expression:pancreas (rat)
RGD
PMID:2278633
RGD:14392892
NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596
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Rbbp8
retinoblastoma binding protein 8, endonuclease
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas
ClinVar
PMID:9811458 PMID:28492532
NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:8653691 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22748914 PMID:22810475 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24580733 PMID:24715504 PMID:24841914 PMID:25186627 PMID:25559809 PMID:25741868 PMID:25980754 PMID:26171675 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:27302097 PMID:27375208 PMID:27595937 PMID:27978560 PMID:28135145 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:30210120 PMID:30719162 PMID:30809044 PMID:30921096 PMID:30968316 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32175297 PMID:32300199 PMID:33097490 PMID:33428109 PMID:33824467 PMID:34326862 PMID:35943490 PMID:36194927 More...
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:10362809 PMID:11430832 PMID:15188174 PMID:15800014 PMID:16287113 PMID:19340305 PMID:20393878 PMID:23399955 PMID:23555315 PMID:23893923 PMID:24033266 PMID:24307375 PMID:24652667 PMID:24728327 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26056085 PMID:26467025 PMID:27615706 PMID:28135145 PMID:28492532 PMID:29748005 PMID:30287823 PMID:30374176 PMID:30982232 PMID:31159747 PMID:32068069 PMID:32566746 PMID:33471991 PMID:35171259 PMID:36243179 More...
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Trp53
transformation related protein 53
ISO
ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA
ClinVar
PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:7981076 PMID:8023157 PMID:8062826 PMID:8102535 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8513440 PMID:8550239 PMID:8633021 PMID:8675009 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11429705 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11896595 PMID:12007217 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15221755 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18685109 PMID:18689542 PMID:18818522 PMID:19101993 PMID:19127115 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20471942 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21059199 PMID:21060032 PMID:21118481 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24556621 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24797764 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25404506 PMID:25516983 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25952993 PMID:26000489 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26484312 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27101868 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27866339 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28486781 PMID:28492532 PMID:28664506 PMID:28724667 PMID:28767289 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29059199 PMID:29070607 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30067863 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30653764 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31105275 PMID:31321604 PMID:31742824 PMID:31775759 PMID:31882575 PMID:31948886 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33818021 PMID:33840814 PMID:34088725 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34709361 PMID:34907344 PMID:35043155 PMID:35512711 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tsc1
TSC complex subunit 1
IMP
RGD
PMID:25425965
RGD:11570510
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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Il1b
interleukin 1 beta
disease_progression
ISO
RGD
PMID:21266527
RGD:7794719
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Pancreatic cysts
ClinVar
PMID:25741868
NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482
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Pkhd1
polycystic kidney and hepatic disease 1
IMP
DNA:deletion:exon:
RGD
PMID:17519956 PMID:18202188
RGD:14700917 , RGD:14700921
NCBI chr 1:20,128,003...20,688,306
Ensembl chr 1:20,128,003...20,688,288
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Agr2
anterior gradient 2
ISO
protein:increased expression:pancreas
RGD
PMID:19714807
RGD:2325658
NCBI chr12:36,042,924...36,054,080
Ensembl chr12:36,042,906...36,054,086
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Akr7a5
aldo-keto reductase family 7, member A5
ISO
protein:increased expression:pancreas
RGD
PMID:19077459
RGD:2325696
NCBI chr 4:139,038,005...139,046,097
Ensembl chr 4:139,038,055...139,045,737
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Calr
calreticulin
ameliorates
ISO
human cells in mouse model human cells in a mouse model
RGD
PMID:33028359 PMID:29072694
RGD:150520160 , RGD:150521706
NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
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Ccnd1
cyclin D1
severity
ISO
DNA:snp:exon:c.870G>A (human) protein:increased expression:pancreas (human)
RGD
PMID:25470788 PMID:22939953
RGD:13462050 , RGD:13462062
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cd59b
CD59b antigen
disease_progression
ISO
protein:increased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
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Cdk4
cyclin dependent kinase 4
severity
ISO
protein:increased expression:pancreas, islet of Langerhans (human)
RGD
PMID:29735403
RGD:13781899
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cfhr2
complement factor H-related 2
disease_progression
ISO
protein:decreased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456
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E2f1
E2F transcription factor 1
severity
ISO
protein:increased expression:pancreatic ductal cell, nucleus (human) DNA:amplification: : (human)
RGD
PMID:12650514 PMID:17233815 PMID:27573434
RGD:13838735 , RGD:13838739 , RGD:13838738
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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Foxm1
forkhead box M1
disease_progression
ISO
RGD
PMID:24859161
RGD:156430321
NCBI chr 6:128,339,957...128,352,849
Ensembl chr 6:128,339,930...128,353,109
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Fubp1
far upstream element (FUSE) binding protein 1
ISO
mRNA:increased expression:pancreatic duct (human)
RGD
PMID:32481602
RGD:151361197
NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463
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Glipr2
GLI pathogenesis-related 2
disease_progression
ISO
protein:decreased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118
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Got1
glutamic-oxaloacetic transaminase 1, soluble
treatment
ISO
human cells in a mouse model
RGD
PMID:23535601
RGD:13504844
NCBI chr19:43,488,191...43,514,743
Ensembl chr19:43,488,191...43,513,044
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Hspa8
heat shock protein 8
disease_progression
ISO
protein:decreased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
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Ikbkb
inhibitor of kappaB kinase beta
susceptibility
IMP
RGD
PMID:22264792
RGD:13838741
NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605
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Jak1
Janus kinase 1
ISO
mRNA:decreased expression:pancreatic ductal cell (human)
RGD
PMID:28677798
RGD:13838745
NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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Mapk8
mitogen-activated protein kinase 8
severity disease_progression
IMP IEP
protein:increased phosphorylation:pancreas (mouse)
RGD
PMID:28837246 PMID:23237571
RGD:14348974 , RGD:14348975
NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28198398
RGD:25314300
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir494
microRNA 494
disease_progression ameliorates
ISO
RGD
PMID:24859161 PMID:24859161
RGD:156430321 , RGD:156430321
NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836
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Pgf
placental growth factor
severity
IMP
associated with obesity
RGD
PMID:26861455
RGD:14349030
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
mRNA, protein:increased expression:pancreas (human)
RGD
PMID:20876794
RGD:14390130
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
severity
ISO
human cells in a mouse model
RGD
PMID:15591514
RGD:14390084
NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357
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Pld1
phospholipase D1
severity
ISO
protein:increased expression:pancreas (human)
RGD
PMID:27713167
RGD:14392801
NCBI chr 3:27,992,636...28,187,388
Ensembl chr 3:27,992,844...28,187,511
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Ptprb
protein tyrosine phosphatase receptor type B
disease_progression
ISO
protein:decreased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440
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Ptprm
protein tyrosine phosphatase receptor type M
disease_progression
ISO
protein:decreased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr17:66,973,843...67,661,486
Ensembl chr17:66,973,942...67,661,452
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Rac1
Rac family small GTPase 1
ISO IEP
mRNA:increased expression:pancreas (human) mRNA, protein:increased expression:pancreas (mouse)
RGD
PMID:23334332 PMID:21684285
RGD:14392806 , RGD:14392816
NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791
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Rala
v-ral simian leukemia viral oncogene A (ras related)
ISO
mRNA:increased expression:pancreas (human)
RGD
PMID:29113235
RGD:14394418
NCBI chr13:18,055,160...18,118,802
Ensembl chr13:18,055,156...18,118,824
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S100a8
S100 calcium binding protein A8 (calgranulin A)
disease_progression
ISO
protein:increased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342
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Smad2
SMAD family member 2
severity
ISO
RGD
PMID:26908446
RGD:14394493
NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034
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Tgfb1
transforming growth factor, beta 1
ameliorates
ISO
protein:decreased expression:pancreas (human)
RGD
PMID:8253361
RGD:155630628
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tgfb2
transforming growth factor, beta 2
ameliorates
ISO
protein:decreased expression:pancreas (human)
RGD
PMID:8253361
RGD:155630628
NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186
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Tgfb3
transforming growth factor, beta 3
ameliorates
ISO
protein:decreased expression:pancreas (human)
RGD
PMID:8253361
RGD:155630628
NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815
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Tgfbr1
transforming growth factor, beta receptor I
ameliorates
ISO
human cell line in a mouse model
RGD
PMID:17297450
RGD:155630637
NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931
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Vegfd
vascular endothelial growth factor D
ISO
protein:increased expression:blood serum (human)
RGD
PMID:21410412
RGD:155630646
NCBI chr X:163,156,282...163,185,643
Ensembl chr X:163,156,374...163,185,646
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Vnn1
vanin 1
disease_progression
ISO
protein:increased expression:blood (human)
RGD
PMID:32663515
RGD:151660329
NCBI chr10:23,770,586...23,781,242
Ensembl chr10:23,770,586...23,781,241
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2200002D01Rik
RIKEN cDNA 2200002D01 gene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35142956
NCBI chr 7:28,946,946...28,947,892
Ensembl chr 7:28,945,986...28,947,891
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Ace
angiotensin I converting enzyme
ISO
mRNA, protein:increased expression:pancreas
RGD
PMID:17481528
RGD:2325211
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Ace2
angiotensin converting enzyme 2
ISO
protein:decreased expression:pancreas
RGD
PMID:19212105
RGD:2325210
NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416
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Adam8
a disintegrin and metallopeptidase domain 8
disease_progression
ISO
mRNA:increased expression:pancreas
RGD
PMID:17979891
RGD:2325243
NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475
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Adam9
ADAM metallopeptidase domain 9
disease_progression
ISO
protein:altered localization:cytoplasm
RGD
PMID:14997207
RGD:2325249
NCBI chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943
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Agr2
anterior gradient 2
ISO
mRNA:increased expression:pancreas
RGD
PMID:19609859
RGD:2325659
NCBI chr12:36,042,924...36,054,080
Ensembl chr12:36,042,906...36,054,086
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Agtr1a
angiotensin II receptor, type 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17481528
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Alb
albumin
disease_progression
ISO
RGD
PMID:19011933
RGD:2325677
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
G
Anxa2
annexin A2
disease_progression
ISO
mRNA, protein:increased expression, altered localization:pancreas, plasma membrane
RGD
PMID:19260470 PMID:16450333
RGD:2317307 , RGD:2325731
NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077
G
Anxa5
annexin A5
ISO
protein:increased expression:pancreas
RGD
PMID:19488907
RGD:2317538
NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043
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Anxa8
annexin A8
ISO
mRNA:increased expression:pancreas
RGD
PMID:18223320
RGD:2325735
NCBI chr14:33,807,936...33,822,528
Ensembl chr14:33,807,938...33,822,528
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Apoc1
apolipoprotein C-I
ISO
RGD
PMID:15876873
RGD:2325793
NCBI chr 7:19,423,405...19,426,584
Ensembl chr 7:19,423,406...19,426,585
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Arg2
arginase type II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23424623
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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Bmi1
Bmi1 polycomb ring finger oncogene
IEP ISO
protein:increased expression:pancreas protein:increased expression:exocrine pancreas:
RGD
PMID:19585519 PMID:19585519
RGD:9491843 , RGD:9491843
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Calr
calreticulin
ISO
protein:increased expression:pancreatic duct
RGD
PMID:15289361
RGD:2326165
NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
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Cbx7
chromobox 7
disease_progression
ISO
protein:decreased expression:pancreas
RGD
PMID:20185297
RGD:9587360
NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320
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Cckar
cholecystokinin A receptor
ISO
protein:decreased expression:pancreas mRNA:increased expression:pancreatic duct
RGD
PMID:12851875 PMID:9239407
RGD:4110816 , RGD:4110818
NCBI chr 5:53,855,827...53,865,046
Ensembl chr 5:53,855,118...53,865,047
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Cckbr
cholecystokinin B receptor
ISO
protein:decreased expression:pancreas
RGD
PMID:12851875
RGD:4110816
NCBI chr 7:105,075,201...105,085,546
Ensembl chr 7:105,074,938...105,120,105
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Ccnd1
cyclin D1
severity
ISO
protein:increased expression:pancreas (human)
RGD
PMID:17420962
RGD:13462063
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cd40
CD40 antigen
treatment
IDA ISO
protein:increased expression:dendritic cell
RGD
PMID:21436454 PMID:23983255 PMID:20976171
RGD:5490301 , RGD:11522743 , RGD:5490524
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cdk6
cyclin dependent kinase 6
treatment
ISO
human cells in a mouse model
RGD
PMID:24389175
RGD:13782187
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Cdkn1a
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:17671118
RGD:8662851
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24986516
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cldn4
claudin 4
ISO
RGD
PMID:15693851
RGD:2317592
NCBI chr 5:134,973,977...134,975,788
Ensembl chr 5:134,973,973...134,975,788
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Cxcl11
chemokine (C-X-C motif) ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24979617
NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344
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Dnmt1
DNA methyltransferase 1
disease_progression
ISO
protein:increased expression:pancreas CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29844410 PMID:19424621
RGD:9588974
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Dnmt3b
DNA methyltransferase 3B
disease_progression
ISO
RGD
PMID:22919364
RGD:9589121
NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
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Dtx1
deltex 1, E3 ubiquitin ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr 5:120,818,268...120,850,879
Ensembl chr 5:120,818,267...120,849,992
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Dtx4
deltex 4, E3 ubiquitin ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr19:12,443,700...12,479,509
Ensembl chr19:12,443,702...12,478,818
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Egf
epidermal growth factor
disease_progression
ISO
protein:increased expression: :
RGD
PMID:18505086
RGD:2317644
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Fasl
Fas ligand
ISO
protein:increased expression:pancreas, liver
RGD
PMID:10547193 PMID:15375495
RGD:2317747 , RGD:2317741
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Fgf2
fibroblast growth factor 2
disease_progression
ISO
RGD
PMID:12717266 PMID:18704599
RGD:2317758 , RGD:2317756
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Fscn1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:12109856
RGD:2317790
NCBI chr 5:142,946,110...142,958,944
Ensembl chr 5:142,946,098...142,958,940
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Gpnmb
glycoprotein (transmembrane) nmb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24979617
NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863
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Gstp1
glutathione S-transferase, pi 1
resistance
ISO
DNA:methylation: : mRNA, protein:increased expression:pancreas
RGD
PMID:16537562 PMID:17265526 PMID:12488200
RGD:2317809 , RGD:2317806 , RGD:2317811
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Hdac1
histone deacetylase 1
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:19424621
RGD:9588974
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Heatr1
HEAT repeat containing 1
treatment
ISO
RGD
PMID:26676747
RGD:10761108
NCBI chr13:12,410,256...12,453,774
Ensembl chr13:12,409,908...12,455,170
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
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Hey1
hairy/enhancer-of-split related with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
G
Hey2
hairy/enhancer-of-split related with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797
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Hspa1a
heat shock protein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17234771
NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132
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Hspa1b
heat shock protein 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17234771
NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214
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Igf1
insulin-like growth factor 1
IDA
RGD
PMID:20098680
RGD:2317639
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Igf1r
insulin-like growth factor I receptor
ISO
protein:increased expression:pancreas
RGD
PMID:14506643 PMID:14627343
RGD:2317652 , RGD:2317649
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Il4
interleukin 4
ISO
RGD
PMID:17942922
RGD:2317264
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il4ra
interleukin 4 receptor, alpha
ISO
protein:increased expression:pancreas
RGD
PMID:17942922
RGD:2317264
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Ins2
insulin II
ISO
Glucagon/insulin
RGD
PMID:19571666
RGD:2317248
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Jag1
jagged 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
G
Jag2
jagged 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396
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Kdm2b
lysine (K)-specific demethylase 2B
severity
ISO
mRNA, protein:increased expression:pancreas (human)
RGD
PMID:23321669
RGD:9588253
NCBI chr 5:123,008,727...123,127,333
Ensembl chr 5:123,008,728...123,127,886
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Kitl
kit ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24979617
NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25347530 PMID:30654191
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Krt7
keratin 7
disease_progression
ISO
RGD
PMID:19260470
RGD:2317307
NCBI chr15:101,310,284...101,325,687
Ensembl chr15:101,308,924...101,328,194
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L1cam
L1 cell adhesion molecule
severity
ISO
protein:increased expression:pancreas (human)
RGD
PMID:20162456
RGD:6483447
NCBI chr X:72,897,384...72,924,843
Ensembl chr X:72,897,384...72,939,711
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Map3k7
mitogen-activated protein kinase kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34686948
NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467
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Mapk3
mitogen-activated protein kinase 3
treatment
ISO
human cells in mouse model
RGD
PMID:20179210
RGD:14348973
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Mcm7
minichromosome maintenance complex component 7
ISO
mRNA, protein:increased expression:pancreatic duct
RGD
PMID:15548371
RGD:2317697
NCBI chr 5:138,162,845...138,170,675
Ensembl chr 5:138,162,845...138,170,684
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Mdm2
transformed mouse 3T3 cell double minute 2
severity onset
ISO
protein:increased expression:pancreas (human) DNA:snp:promoter, intron:IVS1+309T>G (human)
RGD
PMID:15810085 PMID:19752772
RGD:2317416 , RGD:2317414
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Men1
multiple endocrine neoplasia 1
ISO
protein:decreased expression:pancreas
RGD
PMID:19170121
RGD:2317294
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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Met
met proto-oncogene
ISO
protein:increased expression:pancreatic duct (human)
RGD
PMID:7866999
RGD:2317530
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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Mgmt
O-6-methylguanine-DNA methyltransferase
susceptibility
ISO
DNA:missense mutation:cds:p.L84F rs12917 (human) protein:increased activity, increased expression:ductal adenocarcinoma (human)
RGD
PMID:16844323 PMID:9393761
RGD:2317648 , RGD:2317664
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mir142
microRNA 142
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29844410
NCBI chr11:87,647,690...87,647,753
Ensembl chr11:87,647,690...87,647,753
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Mir873a
microRNA 873a
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30654191
NCBI chr 4:36,668,510...36,668,586
Ensembl chr 4:36,668,510...36,668,586
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Mmp2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:pancreas
RGD
PMID:17377415
RGD:2325746
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pancreas, serum protein:increased expression:blood
RGD
PMID:18706098 PMID:20332475
RGD:2325844 , RGD:2325830
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Msln
mesothelin
disease_progression
ISO
protein:increased secretion:serum CTD Direct Evidence: marker/mechanism DNA:hypomethylation:5'UTR
CTD RGD
PMID:14576474 PMID:21775916 PMID:25347530 PMID:19818733 PMID:12874021
RGD:2326055 , RGD:2326065
NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352
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Muc1
mucin 1, transmembrane
disease_progression
ISO
protein:increased expression, altered localization:pancreas
RGD
PMID:18713982 PMID:19109152 PMID:14681945
RGD:2324633 , RGD:2324616 , RGD:2317983
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Muc3a
mucin 3A, cell surface associated
disease_progression
ISO
mRNA:increased expression:pancreas
RGD
PMID:12657964
RGD:2324946
NCBI chr 5:137,243,263...137,276,564
Ensembl chr 5:137,243,270...137,246,852
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Muc4
mucin 4
disease_progression
ISO
mRNA:increased expression:pancreas protein:increased expression:pancreas
RGD
PMID:12657964 PMID:16049287
RGD:2324946 , RGD:2324942
NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
disease_progression
ISO
mRNA:increased expression:pancreas
RGD
PMID:7657125 PMID:10227724
RGD:2324986 , RGD:2324907
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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Muc5b
mucin 5, subtype B, tracheobronchial
ISO
mRNA:increased expression:pancreas
RGD
PMID:7657125
RGD:2324986
NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821
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Ndrg1
N-myc downstream regulated gene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778198
NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21489257
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
protein:increased expression:pancreas (human)
RGD
PMID:17492507
RGD:5132867
NCBI chr11:93,849,751...93,859,341
Ensembl chr11:93,847,805...93,859,347
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Nos2
nitric oxide synthase 2, inducible
IMP
RGD
PMID:12660813
RGD:2325254
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Notch1
notch 1
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19208345 PMID:20484026 PMID:19028876
RGD:2325323 , RGD:2325324
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
G
Notch3
notch 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
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Notch4
notch 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19208345
NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
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Ntrk3
neurotrophic tyrosine kinase, receptor, type 3
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:11295066 PMID:10209957
RGD:2325660 , RGD:2325663
NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760
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Osm
oncostatin M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24979617
NCBI chr11:4,186,831...4,191,027
Ensembl chr11:4,186,420...4,191,026
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Palld
palladin, cytoskeletal associated protein
ISO
protein:increased expression, alternative form:pancreas, fibroblast
RGD
PMID:17404500
RGD:2325781
NCBI chr 8:61,964,465...62,355,741
Ensembl chr 8:61,964,467...62,355,724
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Pax6
paired box 6
ISO
protein:increased expression:pancreatic duct (human)
RGD
PMID:17849422
RGD:8552381
NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
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Pms1
PMS1 homolog 1, mismatch repair system component
ISO
protein:increased expression:pancreatic duct
RGD
PMID:15856462
RGD:2324870
NCBI chr 1:53,225,794...53,336,190
Ensembl chr 1:53,228,346...53,336,177
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Pparg
peroxisome proliferator activated receptor gamma
disease_progression
ISO
RGD
PMID:19396032
RGD:2317461
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:18670639
RGD:2317185
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34686948
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Rnf2
ring finger protein 2
IEP
protein:increased expression:pancreas
RGD
PMID:19585519
RGD:9491843
NCBI chr 1:151,345,159...151,376,562
Ensembl chr 1:151,333,755...151,376,706
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Rxra
retinoid X receptor alpha
severity
ISO
RGD
PMID:19396032
RGD:2317461
NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969
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Serpina1e
serine (or cysteine) peptidase inhibitor, clade A, member 1E
ISO
mRNA, protein:increased expression:pancreas
RGD
PMID:12488200
RGD:2317811
NCBI chr12:103,913,190...103,923,156
Ensembl chr12:103,913,190...103,925,234
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Slc2a2
solute carrier family 2 (facilitated glucose transporter), member 2
IEP
protein:increased expression:pancreatic duct
RGD
PMID:19252908
RGD:2324975
NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
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Smad4
SMAD family member 4
disease_progression
ISO
RGD
PMID:15173084
RGD:21066334
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
G
Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:16826192
RGD:2324981
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
G
Stk11
serine/threonine kinase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26887594
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
G
Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
RGD
PMID:16101174
RGD:2325019
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tgfbr2
transforming growth factor, beta receptor II
disease_progression
IMP ISO
mRNA:increased expresssion:pancreas
RGD
PMID:17114585 PMID:10547197
RGD:2317498 , RGD:2317500
NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428
G
Thbs1
thrombospondin 1
disease_progression
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:12429967 PMID:19065635
RGD:2325025 , RGD:2325022
NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
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Tmprss3
transmembrane protease, serine 3
ISO
RGD
PMID:14695172
RGD:2325152
NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951
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Trp53
transformation related protein 53
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29844410
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tsc2
TSC complex subunit 2
severity
ISO
RGD
PMID:16213898
RGD:11568674
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:19760965
RGD:2325155
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17481528
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vhl
von Hippel-Lindau tumor suppressor
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:19065635
RGD:2325022
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Yeats2
YEATS domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34686948
NCBI chr16:19,959,803...20,051,323
Ensembl chr16:19,959,813...20,051,323
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Zzz3
zinc finger, ZZ domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34686948
NCBI chr 3:152,101,110...152,168,463
Ensembl chr 3:152,101,110...152,168,463
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Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas
ClinVar
PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Cux1
cut-like homeobox 1
exacerbates
ISO
protein:increased expression:pancreas (human)
RGD
PMID:32707646
RGD:153297777
NCBI chr 5:136,276,989...136,596,429
Ensembl chr 5:136,276,989...136,596,344
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Daxx
Fas death domain-associated protein
disease_progression
ISO
DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)
RGD
PMID:29212165
RGD:152025205
NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:14501508
RGD:2317661
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 PMID:25741868 PMID:28492532 PMID:28724667 More...
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Pgf
placental growth factor
disease_progression treatment
ISO IMP
protein:increased expression:serum (human) human cells in a mouse model
RGD
PMID:23463017 PMID:26861455
RGD:14349029 , RGD:14349030
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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Alb
albumin
spontaneous
ISO
associated with Postoperative Complications;
RGD
PMID:23225108
RGD:11035295
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:28492532 PMID:31006513 PMID:31271559 More...
NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
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Akt1
thymoma viral proto-oncogene 1
ISO
DNA:missense mutation:cds:p.E17K (human)
RGD
PMID:24132918
RGD:13462042
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Trp53
transformation related protein 53
ISO
DNA:missense mutations: :multiple
RGD
PMID:28930868
RGD:14995501
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Vegfd
vascular endothelial growth factor D
ISO
protein:increased expression:blood serum (human)
RGD
PMID:21410412
RGD:155630646
NCBI chr X:163,156,282...163,185,643
Ensembl chr X:163,156,374...163,185,646
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Agr2
anterior gradient 2
ISO
protein:increased expression:pancreas
RGD
PMID:19714807
RGD:2325658
NCBI chr12:36,042,924...36,054,080
Ensembl chr12:36,042,906...36,054,086
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Bmi1
Bmi1 polycomb ring finger oncogene
IEP ISO
protein:increased expression:pancreatic acinar cell: protein:increased expression:exocrine pancreas:
RGD
PMID:19585519 PMID:19585519
RGD:9491843 , RGD:9491843
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Cbx7
chromobox 7
disease_progression
ISO
protein:decreased expression:pancreas
RGD
PMID:20185297
RGD:9587360
NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320
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Ccnd1
cyclin D1
disease_progression
ISO
protein:increased expression:pancreas (human)
RGD
PMID:12882690 PMID:11751405
RGD:13462061 , RGD:13464129
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Dnmt1
DNA methyltransferase 1
ISO
protein:increased expression:pancreas
RGD
PMID:19424621
RGD:9588974
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:pancreas
RGD
PMID:19424621
RGD:9588974
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Ikbkb
inhibitor of kappaB kinase beta
severity disease_progression
IMP
RGD
PMID:22406536 PMID:22056382
RGD:13838740 , RGD:13838742
NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605
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Pnlip
pancreatic lipase
ISO
ClinVar Annotator: match by term: Pancreatic lipase deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24262094 PMID:25741868 PMID:25862608 PMID:28492532 PMID:35284057
NCBI chr19:58,658,797...58,670,231
Ensembl chr19:58,640,930...58,670,220
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Kras
Kirsten rat sarcoma viral oncogene homolog
severity
ISO
DNA:mutations:cds:
RGD
PMID:28570009
RGD:14398747
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Nek8
NIMA (never in mitosis gene a)-related expressed kinase 8
ISO
ClinVar Annotator: match by term: Pancreatic neoplasm
ClinVar
PMID:20581473
NCBI chr11:78,056,932...78,067,501
Ensembl chr11:78,056,932...78,067,501
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Pancreatic neoplasm
ClinVar
PMID:10408777 PMID:12865922 PMID:16287113 PMID:16582077 PMID:17026623 PMID:20435009 PMID:21189378 PMID:23399955 PMID:23718779 PMID:25226294 PMID:28492532 More...
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Stk33
serine/threonine kinase 33
ISO
ClinVar Annotator: match by term: Pancreatic neoplasm
ClinVar
PMID:20581473
NCBI chr 7:108,878,270...109,038,375
Ensembl chr 7:108,878,430...109,038,288
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Ttk
Ttk protein kinase
ISO
ClinVar Annotator: match by term: Pancreatic neoplasm
ClinVar
PMID:20581473
NCBI chr 9:83,716,704...83,754,442
Ensembl chr 9:83,716,742...83,754,442
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Ccnd1
cyclin D1
severity
ISO
protein:increased expression:pancreas (human)
RGD
PMID:19248223
RGD:13462054
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17169977
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Bdkrb2
bradykinin receptor, beta 2
ISO
RGD
PMID:7791078
RGD:4891025
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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Bnip3l
BCL2/adenovirus E1B interacting protein 3-like
ISO
mRNA, protein:increased expression:lung
RGD
PMID:14530762
RGD:7483579
NCBI chr14:67,222,688...67,246,580
Ensembl chr14:67,222,688...67,246,326
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Casp12
caspase 12
ISO
RGD
PMID:16574987
RGD:2311467
NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032
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Casp3
caspase 3
ISO
RGD
PMID:16574987
RGD:2311467
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Cck
cholecystokinin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16187300 PMID:16499907
NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
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Ccl2
C-C motif chemokine ligand 2
ISO
human gene in rat model
RGD
PMID:19111613 PMID:16284287 PMID:18297440
RGD:2307002 , RGD:8549548 , RGD:2307046
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl5
C-C motif chemokine ligand 5
ISO
associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human) protein:increased expression:pancreas (rat)
RGD
PMID:16614115 PMID:16843865
RGD:2317568 , RGD:2307146
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cd14
CD14 antigen
IMP
RGD
PMID:19201771
RGD:4144143
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatitis | ClinVar Annotator: match by term: Recurrent pancreatitis
CTD ClinVar
PMID:1370875 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1381146 PMID:1384321 PMID:1536179 PMID:1673094 PMID:1715308 PMID:1723032 PMID:1756602 PMID:1997384 PMID:2210767 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2300168 PMID:2378364 PMID:2475911 PMID:2570460 PMID:7517267 PMID:7533604 PMID:7537148 PMID:7540133 PMID:7560099 PMID:7691813 PMID:7789957 PMID:8092189 PMID:8605891 PMID:8659542 PMID:8740923 PMID:8844211 PMID:8886242 PMID:9135274 PMID:9235853 PMID:9272157 PMID:9272738 PMID:9439669 PMID:9493456 PMID:9618063 PMID:9921909 PMID:10103316 PMID:10425036 PMID:10601093 PMID:10782933 PMID:10801389 PMID:10869121 PMID:10875853 PMID:10950058 PMID:10963013 PMID:11168024 PMID:11186891 PMID:11280952 PMID:11354633 PMID:11547256 PMID:11733566 PMID:11924117 PMID:12014388 PMID:12400067 PMID:12759680 PMID:14618962 PMID:15097853 PMID:15141088 PMID:15151509 PMID:15246977 PMID:15367919 PMID:15371902 PMID:15482777 PMID:15640323 PMID:15857421 PMID:15905293 PMID:16075239 PMID:16283887 PMID:16478680 PMID:17003641 PMID:17035430 PMID:17048214 PMID:17175965 PMID:17206681 PMID:17572159 PMID:17594397 PMID:17681820 PMID:17692578 PMID:18178635 PMID:18180206 PMID:18234567 PMID:18360295 PMID:18394117 PMID:18456578 PMID:18501000 PMID:18507830 PMID:18796364 PMID:19176844 PMID:19227414 PMID:19318346 PMID:19459534 PMID:19837664 PMID:19878303 PMID:19885835 PMID:19925455 PMID:20021716 PMID:20116881 PMID:20301295 PMID:20301428 PMID:20460946 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20667826 PMID:20687163 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20837875 PMID:20977904 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21228398 PMID:21411740 PMID:21486785 PMID:21520337 PMID:21594800 PMID:21658649 PMID:21804385 PMID:21907281 PMID:21965669 PMID:21976147 PMID:21983488 PMID:22020151 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22427236 PMID:22449949 PMID:22569626 PMID:22591852 PMID:22658665 PMID:22680785 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22999299 PMID:23067305 PMID:23104983 PMID:23143602 PMID:23168765 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23436935 PMID:23613805 PMID:23656801 PMID:23721890 PMID:23751316 PMID:23781395 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24375076 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24451227 PMID:24559724 PMID:24696795 PMID:24727426 PMID:24958810 PMID:24973281 PMID:25033378 PMID:25042876 PMID:25148434 PMID:25330774 PMID:25608981 PMID:25636364 PMID:25697321 PMID:25741868 PMID:25741869 PMID:25741905 PMID:25763566 PMID:25797027 PMID:25824995 PMID:25910067 PMID:25981758 PMID:26006199 PMID:26095523 PMID:26149808 PMID:26436105 PMID:26467025 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26648081 PMID:26708955 PMID:26800689 PMID:26911355 PMID:26976279 PMID:26989879 PMID:27171515 PMID:27298017 PMID:27334259 PMID:27469177 PMID:27577878 PMID:27660821 PMID:27673710 PMID:27738188 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28325531 PMID:28492530 PMID:28492532 PMID:28603918 PMID:28606620 PMID:28617084 PMID:28930490 PMID:28968805 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29261177 PMID:29292091 PMID:29327948 PMID:29431110 PMID:29451946 PMID:29589582 PMID:29614238 PMID:29668297 PMID:29754320 PMID:29779145 PMID:29805046 PMID:29944384 PMID:30030066 PMID:30089726 PMID:30230364 PMID:30279124 PMID:30487145 PMID:30600599 PMID:30602999 PMID:30609409 PMID:31019283 PMID:31028937 PMID:31036917 PMID:31126253 PMID:31130284 PMID:31187952 PMID:31199594 PMID:31310009 PMID:31350925 PMID:31447099 PMID:31523618 PMID:31589614 PMID:31788424 PMID:31980526 PMID:31990467 PMID:32429104 PMID:32761997 PMID:33083013 PMID:33118704 PMID:33144682 PMID:33270637 PMID:33365035 PMID:33375403 PMID:33468668 PMID:33572515 PMID:33713579 PMID:34405919 PMID:34426522 More...
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Cldn2
claudin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143602
NCBI chr X:138,701,552...138,712,135
Ensembl chr X:138,701,577...138,712,135
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17484889
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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Cnr2
cannabinoid receptor 2
ISO
protein:decreased expression:pancreas, acinar cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17484889 PMID:19070664
RGD:2316197
NCBI chr 4:135,622,500...135,647,530
Ensembl chr 4:135,622,705...135,647,518
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Cpa1
carboxypeptidase A1, pancreatic
IAGP
OMIM:167800
MouseDO
NCBI chr 6:30,639,217...30,645,360
Ensembl chr 6:30,639,217...30,645,362
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Ctrb1
chymotrypsinogen B1
ISO
mRNA, protein:decreased expression:pancreas
RGD
PMID:1716058
RGD:2303363
NCBI chr 8:112,413,142...112,417,642
Ensembl chr 8:112,413,151...112,417,642
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Ctsl
cathepsin L
ISO
protein:altered processing:pancreas (rat)
RGD
PMID:19805911
RGD:2315546
NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704
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Dusp1
dual specificity phosphatase 1
ISO
mRNA:increased expression:pancreas
RGD
PMID:11027531
RGD:2301725
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
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Dusp10
dual specificity phosphatase 10
ISO
mRNA:increased expression:pancreas
RGD
PMID:11027531
RGD:2301725
NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833
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Dusp6
dual specificity phosphatase 6
ISO
mRNA:increased expression:pancreas
RGD
PMID:11027531
RGD:2301725
NCBI chr10:99,098,676...99,103,351
Ensembl chr10:99,099,093...99,103,351
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Egf
epidermal growth factor
ISO
protein:decreased expression:serum
RGD
PMID:20127414
RGD:2317638
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Egr1
early growth response 1
ISO
mRNA, protein:increased expression:pancreas (rat)
RGD
PMID:16124058
RGD:5131939
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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Fdx1
ferredoxin 1
ISO
mRNA:increased expression:pancreatic acinar cell (rat)
RGD
PMID:12709512
RGD:4145666
NCBI chr 9:51,854,323...51,874,902
Ensembl chr 9:51,854,606...51,874,856
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Fga
fibrinogen alpha chain
ISO
protein:increased expression:pancreas, rough endoplasmic reticulum
RGD
PMID:19954227
RGD:5688770
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
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Fgb
fibrinogen beta chain
ISO
protein:increased expression:pancreas, rough endoplasmic reticulum
RGD
PMID:19954227
RGD:5688770
NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170
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Fgg
fibrinogen gamma chain
ISO
protein:increased expression:pancreas, rough endoplasmic reticulum
RGD
PMID:19954227
RGD:5688770
NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25217962
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25217962
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:14751415
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hsp90ab1
heat shock protein 90 alpha (cytosolic), class B member 1
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:19346995
RGD:5686868
NCBI chr17:45,878,704...45,884,187
Ensembl chr17:45,878,701...45,884,197
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Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
ISO
RGD
PMID:16183055
RGD:1624393
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum
RGD
PMID:12923961 PMID:23125085
RGD:2325163 , RGD:8547728
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ikbkb
inhibitor of kappaB kinase beta
treatment
IMP
RGD
PMID:17525799
RGD:10045954
NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605
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Il10
interleukin 10
ISO
protein:increased expression:serum
RGD
PMID:19399939
RGD:2306925
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il13
interleukin 13
ISO
protein:increased expression:pancreas
RGD
PMID:20100461
RGD:4145466
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il15
interleukin 15
ISO
RGD
PMID:20332642
RGD:4892671
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il18
interleukin 18
treatment
ISO
protein:increased expression:serum
RGD
PMID:19238530 PMID:23983797
RGD:4889404 , RGD:8655988
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
ISO
RGD
PMID:23070084
RGD:7204440
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17163263
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Itgb2
integrin beta 2
IMP
RGD
PMID:22490516
RGD:6482196
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Klk1
kallikrein 1
ISO
protein:increased expression:pancreas
RGD
PMID:12770935
RGD:1641805
NCBI chr 7:43,874,784...43,879,046
Ensembl chr 7:43,874,784...43,879,042
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Lepr
leptin receptor
ISO
DNA:mutation:cds:p.Q269P(rat)
RGD
PMID:21836382
RGD:10412020
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18936103
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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Map2k1
mitogen-activated protein kinase kinase 1
severity
IMP
RGD
PMID:28090569
RGD:13838805
NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913
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Mdm2
transformed mouse 3T3 cell double minute 2
ISO
protein:increased expression:pancreas (rat)
RGD
PMID:19850968
RGD:2317361
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Met
met proto-oncogene
ISO
mRNA:increased expression:pancreas (rat)
RGD
PMID:11737224
RGD:2317606
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
G
Mir100
microRNA 100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 9:41,442,721...41,442,800
Ensembl chr 9:41,442,721...41,442,800
G
Mir130a
microRNA 130a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522
G
Mir130b
microRNA 130b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr16:16,941,925...16,942,006
Ensembl chr16:16,941,925...16,942,006
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Mir141
microRNA 141
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 6:124,694,877...124,694,948
Ensembl chr 6:124,694,877...124,694,948
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Mir148a
microRNA 148a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 6:51,246,792...51,246,890
Ensembl chr 6:51,246,792...51,246,890
G
Mir150
microRNA 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 7:44,771,181...44,771,245
Ensembl chr 7:44,771,181...44,771,245
G
Mir155
microRNA 155
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir15a
microRNA 15a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
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Mir181c
microRNA 181c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 8:84,905,502...84,905,590
Ensembl chr 8:84,905,502...84,905,590
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Mir181d
microRNA 181d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 8:84,905,345...84,905,416
Ensembl chr 8:84,905,345...84,905,416
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Mir182
microRNA 182
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 6:30,165,917...30,165,991
Ensembl chr 6:30,165,917...30,165,991
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Mir183
microRNA 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 6:30,169,667...30,169,736
Ensembl chr 6:30,169,667...30,169,736
G
Mir192
microRNA 192
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962
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Mir200a
microRNA 200a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442
G
Mir200b
microRNA 200b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207
G
Mir200c
microRNA 200c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353
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Mir20b
microRNA 20b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr X:51,830,990...51,831,069
Ensembl chr X:51,830,990...51,831,069
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Mir214
microRNA 214
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046
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Mir215
microRNA 215
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889
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Mir216a
microRNA 216a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr11:28,707,012...28,707,083
Ensembl chr11:28,707,012...28,707,083
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Mir216b
microRNA 216b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr11:28,696,191...28,696,276
Ensembl chr11:28,696,191...28,696,276
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Mir217
microRNA 217
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr11:28,713,728...28,713,835
Ensembl chr11:28,713,728...28,713,835
G
Mir22
microRNA 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr11:75,354,542...75,354,636
Ensembl chr11:75,354,542...75,354,636
G
Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 8:84,935,301...84,935,387
Ensembl chr 8:84,935,301...84,935,387
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Mir27b
microRNA 27b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr13:63,448,526...63,448,598
Ensembl chr13:63,448,526...63,448,598
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Mir29a
microRNA 29a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 6:31,039,595...31,039,682
Ensembl chr 6:31,039,595...31,039,682
G
Mir29c
microRNA 29c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942
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Mir30a
microRNA 30a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420
G
Mir30b
microRNA 30b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr15:68,209,264...68,209,359
Ensembl chr15:68,209,264...68,209,359
G
Mir31
microRNA 31
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899
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Mir335
microRNA 335
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 6:30,741,298...30,741,395
Ensembl chr 6:30,741,298...30,741,395
G
Mir361
microRNA 361
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr X:111,984,521...111,984,590
Ensembl chr X:111,984,521...111,984,590
G
Mir375
microRNA 375
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 1:74,939,817...74,939,880
Ensembl chr 1:74,939,817...74,939,880
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Mir376c
microRNA 376c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr12:109,689,152...109,689,237
Ensembl chr12:109,689,152...109,689,237
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Mir379
microRNA 379
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr12:109,675,494...109,675,559
Ensembl chr12:109,675,494...109,675,559
G
Mir429
microRNA 429
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444
G
Mir532
microRNA 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27840954
NCBI chr X:7,114,641...7,114,736
Ensembl chr X:7,114,641...7,114,736
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16440434
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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mt-Atp8
ATP synthase 8, mitochondrial
susceptibility
IAGP
DNA:transversion: :m.7778G>T (mouse)
RGD
PMID:19759059
RGD:5490297
NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
protein, mRNA:decreased expression:pancreas, blood cells
RGD
PMID:20442679
RGD:5131438
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Nupr1
nuclear protein transcription regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16822955
NCBI chr 7:126,222,418...126,224,642
Ensembl chr 7:126,222,421...126,230,033
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Parp1
poly (ADP-ribose) polymerase family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16127429
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Pdgfa
platelet derived growth factor, alpha
ISO
associated with Reperfusion Injury;protein:increased expression:blood vessel
RGD
PMID:16601314
RGD:2292161
NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125
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Pdgfb
platelet derived growth factor, B polypeptide
ISO
protein: increased expression: serum
RGD
PMID:21750433
RGD:6483007
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Pparg
peroxisome proliferator activated receptor gamma
ISO
RGD
PMID:18583255
RGD:2301875
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppp3ca
protein phosphatase 3, catalytic subunit, alpha isoform
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22952646
NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488
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Prss1
serine protease 1 (trypsin 1)
susceptibility
ISO
protein:mutation: :p.R117H (human) protein:increased expression:cytosol
RGD
PMID:8841182 PMID:9688663
RGD:1599960 , RGD:1599965
NCBI chr 6:41,435,864...41,440,720
Ensembl chr 6:41,435,866...41,440,720
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Prss3b
protease, serine 3B
IAGP
OMIM:167800
MouseDO
NCBI chr 6:41,007,202...41,012,443
Ensembl chr 6:41,007,202...41,012,443
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Ptgs2
prostaglandin-endoperoxide synthase 2
onset
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19820421 PMID:21372163
RGD:5508226
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rhob
ras homolog family member B
ISO
ClinVar Annotator: match by term: Recurrent pancreatitis
ClinVar
PMID:25741868 PMID:32989326
NCBI chr12:8,547,661...8,550,009
Ensembl chr12:8,547,661...8,550,009
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Sell
selectin, lymphocyte
ISO
RGD
PMID:16214426
RGD:5685705
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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Serpina1d
serine (or cysteine) peptidase inhibitor, clade A, member 1D
ISO
RGD
PMID:12770935
RGD:1641805
NCBI chr12:103,729,846...103,739,892
Ensembl chr12:103,729,853...103,739,851
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Serping1
serine (or cysteine) peptidase inhibitor, clade G, member 1
treatment
ISO
RGD
PMID:9176084
RGD:8661649
NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
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Smo
smoothened, frizzled class receptor
ISO
protein:increased expression:pancreas
RGD
PMID:20062892
RGD:2324983
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
ClinVar Annotator: match by term: Pancreatitis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:16885867 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23143602 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:25010710 PMID:25206283 PMID:25741868 PMID:27535533 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793 PMID:34828289 PMID:8674801 More...
RGD:2300393
NCBI chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622
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Srf
serum response factor
IDA
RGD
PMID:16894357
RGD:1581427
NCBI chr17:46,857,764...46,869,194
Ensembl chr17:46,859,255...46,867,101
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7911442
NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
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Tac1
tachykinin 1
IEP
mRNA:increased expression:lung, pancreas
RGD
PMID:16369913
RGD:5147636
NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
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Tacr1
tachykinin receptor 1
ISO IEP
mRNA, protein:increased expression:lung, pancreas
RGD
PMID:18580444 PMID:16369913
RGD:2304266 , RGD:5147636
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:19260515
RGD:2312507
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr3
toll-like receptor 3
ISO
protein:increased expression:spinal cord dorsal horn (rat)
RGD
PMID:21342497
RGD:5128695
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Tlr4
toll-like receptor 4
IMP ISO
RGD
PMID:19201771 PMID:19260515
RGD:4144143 , RGD:2312507
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Pancreatitis
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
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Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17698068
NCBI chr11:73,124,975...73,152,148
Ensembl chr11:73,125,118...73,152,068
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Try10
trypsin 10
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Recurrent pancreatitis protein:mutation: :p.R117H (human)
CTD ClinVar RGD
PMID:8841182 PMID:10381903 PMID:11260229 PMID:15017610 PMID:16036133 PMID:16505482 PMID:17204147 PMID:19191323 PMID:19453252 PMID:19951905 PMID:20502448 PMID:21907651 PMID:22379635 PMID:22427236 PMID:22539344 PMID:22749696 PMID:23143602 PMID:24458023 PMID:25546417 PMID:25741868 PMID:26658045 PMID:28492532 PMID:28502372 PMID:28536777 PMID:29173301 PMID:29215622 PMID:30018304 PMID:30113427 PMID:30850667 PMID:34065437 More...
RGD:1599960
NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:12923961
RGD:2325163
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Xdh
xanthine dehydrogenase
ISO
RGD
PMID:14728722
RGD:7247701
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Nphp3
nephronophthisis 3 (adolescent)
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia
ClinVar
PMID:25741868
NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
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Nphp3
nephronophthisis 3 (adolescent)
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34212438 More...
NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
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Nek8
NIMA (never in mitosis gene a)-related expressed kinase 8
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2
OMIM ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 PMID:26862157 PMID:26967905 PMID:28492532 More...
NCBI chr11:78,056,932...78,067,501
Ensembl chr11:78,056,932...78,067,501
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 More...
NCBI chr15:10,446,849...10,470,685
Ensembl chr15:10,446,842...10,470,602
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Sbds
SBDS ribosome maturation factor
ISO IAGP
DNA:mutations:multiple ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 CTD Direct Evidence: marker/mechanism OMIM:260400
OMIM ClinVar CTD MouseDO RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:25741913 PMID:26479198 PMID:26822237 PMID:28509441 PMID:31321910 PMID:31589614 PMID:32150944 PMID:32581362 PMID:34308104 PMID:12496757 More...
RGD:1599541
NCBI chr 5:130,274,573...130,284,371
Ensembl chr 5:130,274,572...130,284,371
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Serpini2
serine (or cysteine) peptidase inhibitor, clade I, member 2
IAGP
OMIM:260400
MouseDO
NCBI chr 3:75,149,664...75,177,385
Ensembl chr 3:75,149,677...75,177,385
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Srp19
signal recognition particle 19
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr18:34,464,185...34,469,652
Ensembl chr18:34,463,900...34,469,652
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Srp54a
signal recognition particle 54A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152
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Srpra
signal recognition particle receptor alpha
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr 9:35,122,499...35,128,299
Ensembl chr 9:35,111,471...35,159,269
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Efl1
elongation factor like GTPase 1
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2
OMIM ClinVar
PMID:25741868 PMID:28331068 PMID:28492532 PMID:29970384 PMID:31151987 PMID:34115847 More...
NCBI chr 7:82,297,811...82,427,060
Ensembl chr 7:82,297,822...82,427,060
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tropical calcific pancreatitis
CTD OMIM ClinVar
PMID:10691414 PMID:10835640 PMID:11265669 PMID:11950815 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:15980664 PMID:16849362 PMID:16885867 PMID:17003641 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:18978175 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:21610753 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23017645 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:24909264 PMID:25010710 PMID:25206283 PMID:25741868 PMID:25792561 PMID:25927356 PMID:26632706 PMID:26719302 PMID:27535533 PMID:27578509 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28687971 PMID:28984793 PMID:29521951 PMID:31401021 PMID:34828289 More...
NCBI chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622
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Ifna1
interferon alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17961653
NCBI chr 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893
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Men1
multiple endocrine neoplasia 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17961653
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2868874
NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
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