RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24036142 |
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NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17169978 |
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NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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Gip |
gastric inhibitory polypeptide |
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IEP |
protein:increased expression:plasma (rat) |
RGD |
PMID:3892654 |
RGD:2312553 |
NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
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Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18784349 |
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NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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Hnf1b |
HNF1 homeobox B |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human) |
RGD |
PMID:15068978 |
RGD:2312751 |
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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Il6 |
interleukin 6 |
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ISO |
insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) |
RGD |
PMID:18772604 |
RGD:2307287 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Lepr |
leptin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3519326 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Msln |
mesothelin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:19843662 |
RGD:2326052 |
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6143199 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Spp1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20495387 |
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NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Ctf1 |
cardiotrophin 1 |
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ISS |
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MouseDO |
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NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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Gucy2c |
guanylate cyclase 2C |
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ISS |
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MouseDO |
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NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
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Lep |
leptin |
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ISS |
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MouseDO |
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Neil1 |
nei-like DNA glycosylase 1 |
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ISS |
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MouseDO |
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NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15309680 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Pparg |
peroxisome proliferator-activated receptor gamma |
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ISS |
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MouseDO |
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NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a |
PPARG coactivator 1 alpha |
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IEP |
mRNA:increased expression:gastrocnemius muscle (rat) |
RGD |
PMID:23320128 |
RGD:7241841 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Prkci |
protein kinase C, iota |
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ISS |
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MouseDO |
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NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
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Sirt3 |
sirtuin 3 |
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ISS |
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MouseDO |
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NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Slc2a9 |
solute carrier family 2 member 9 |
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ISS |
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MouseDO |
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NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
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Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
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IDA |
protein:increased oxidation:cardiac muscle cell |
RGD |
PMID:23997093 |
RGD:13782087 |
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Fadd |
Fas associated via death domain |
treatment |
IEP |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fas |
Fas cell surface death receptor |
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IEP |
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RGD |
PMID:30172001 |
RGD:13792561 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Lep |
leptin |
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ISS |
OMIM:605552 |
MouseDO |
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lpl |
lipoprotein lipase |
treatment |
IDA |
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RGD |
PMID:26996629 |
RGD:13794382 |
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mttp |
microsomal triglyceride transfer protein |
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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...
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NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Tlr2 |
toll-like receptor 2 |
susceptibility |
ISO |
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RGD |
PMID:19841034 |
RGD:15090861 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tp53inp1 |
tumor protein p53 inducible nuclear protein 1 |
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ISS |
OMIM:605552 |
MouseDO |
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NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968
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Ahdc1 |
AT hook, DNA binding motif, containing 1 |
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ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 |
ClinVar |
PMID:25741868 PMID:29696776 PMID:33644933 |
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NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
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ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
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NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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Cela2a |
chymotrypsin like elastase 2A |
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ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:31358993 |
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NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
treatment |
IEP |
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RGD |
PMID:18416460 |
RGD:13782074 |
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Bcl2l1 |
Bcl2-like 1 |
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IEP |
protein:increased expression:pancreas, mitochondrion (rat) |
RGD |
PMID:19331832 |
RGD:11353791 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Becn1 |
beclin 1 |
treatment |
ISO |
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RGD |
PMID:22850625 |
RGD:11560530 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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IEP |
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RGD |
PMID:10451498 |
RGD:10043817 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Ednra |
endothelin receptor type A |
treatment |
IMP |
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RGD |
PMID:12799311 |
RGD:1581841 |
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Fas |
Fas cell surface death receptor |
severity |
ISO |
protein:increased expression:Kupffer cell: |
RGD |
PMID:15797225 PMID:15797225 |
RGD:14700708, RGD:14700708 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg |
Fas ligand |
severity |
ISO |
protein:increased expression:Kupffer cell: |
RGD |
PMID:15797225 PMID:15797225 |
RGD:14700708, RGD:14700708 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Gss |
glutathione synthetase |
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IEP |
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RGD |
PMID:17897920 |
RGD:11353819 |
NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
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Hmgb1 |
high mobility group box 1 |
treatment |
IMP |
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RGD |
PMID:23706497 |
RGD:10402063 |
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hspa5 |
heat shock protein family A (Hsp70) member 5 |
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IEP |
protein:increased expression:neutrophil: |
RGD |
PMID:26464680 |
RGD:11354914 |
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Icam1 |
intercellular adhesion molecule 1 |
treatment |
IEP IMP |
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RGD |
PMID:23706497 PMID:10201790 |
RGD:10402063, RGD:11520782 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10 |
interleukin 10 |
treatment |
IEP |
protein:increased expression:serum |
RGD |
PMID:19399939 PMID:25323753 |
RGD:2306925, RGD:11049477 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il4 |
interleukin 4 |
treatment |
IEP |
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RGD |
PMID:24876883 |
RGD:10402805 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Jak1 |
Janus kinase 1 |
treatment |
IEP |
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RGD |
PMID:21369693 |
RGD:19165136 |
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Kmo |
kynurenine 3-monooxygenase |
disease_progression |
ISO IMP |
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RGD |
PMID:26752518 PMID:28398044 |
RGD:11342439, RGD:13703053 |
NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
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Kras |
KRAS proto-oncogene, GTPase |
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IEP |
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RGD |
PMID:8913708 |
RGD:11062095 |
NCBI chr 4:178,185,418...178,218,484
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Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO |
protein:decreased expression:pancreas |
RGD |
PMID:22850625 |
RGD:11560530 |
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
treatment |
ISO |
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RGD |
PMID:22850625 |
RGD:11560530 |
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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Mdm2 |
MDM2 proto-oncogene |
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IEP |
protein:increased expression:pancreas (rat) |
RGD |
PMID:19850968 |
RGD:2317361 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mir155 |
microRNA 155 |
treatment |
ISO |
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RGD |
PMID:29937734 PMID:30497068 |
RGD:21403683, RGD:21408596 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
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RGD |
PMID:16127429 |
RGD:11075069 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
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RGD |
PMID:19680809 |
RGD:11100040 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Procr |
protein C receptor |
treatment |
IEP IDA |
protein:increased expression:blood |
RGD |
PMID:25688263 PMID:24749346 |
RGD:13515127, RGD:13515128 |
NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
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Ptafr |
platelet-activating factor receptor |
treatment |
IDA |
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RGD |
PMID:21633536 |
RGD:9999225 |
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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Reg1a |
regenerating family member 1 alpha |
severity |
IEP IMP |
mRNA:increased expression:pancreas (rat) |
RGD |
PMID:1985964 PMID:19129610 |
RGD:729900, RGD:9850139 |
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Reg3b |
regenerating family member 3 beta |
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IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:11066135 |
RGD:9831384 |
NCBI chr 4:112,419,776...112,423,014
Ensembl chr 4:110,861,775...110,865,015
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Serpinc1 |
serpin family C member 1 |
treatment |
ISO |
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RGD |
PMID:19546838 |
RGD:11035262 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpinf1 |
serpin family F member 1 |
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IEP |
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RGD |
PMID:10360224 |
RGD:8661651 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Serping1 |
serpin family G member 1 |
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IEP |
protein:decreased expression:plasma |
RGD |
PMID:10360224 |
RGD:8661651 |
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Spink1 |
serine peptidase inhibitor, Kazal type 1 |
treatment |
IDA |
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RGD |
PMID:15765407 |
RGD:10043090 |
NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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Tnf |
tumor necrosis factor |
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IEP |
associated with Anemia, Hemolytic |
RGD |
PMID:12845374 PMID:15164724 |
RGD:10449461, RGD:1580295 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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IEP |
protein:increased expression:serum |
RGD |
PMID:15164724 |
RGD:1580295 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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IEP |
protein:increased expression:serum |
RGD |
PMID:15164724 |
RGD:1580295 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vwf |
von Willebrand factor |
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IEP |
protein:increased expression:plasma: |
RGD |
PMID:17708840 |
RGD:11079229 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Adcyap1 |
adenylate cyclase activating polypeptide 1 |
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IDA |
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RGD |
PMID:15702783 |
RGD:2325308 |
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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Arg1 |
arginase 1 |
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IDA |
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RGD |
PMID:20697209 |
RGD:4142795 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Becn1 |
beclin 1 |
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IEP |
protein:increased expression:pancreas |
RGD |
PMID:21926933 |
RGD:6483068 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Birc5 |
baculoviral IAP repeat-containing 5 |
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IEP |
mRNA:increased expression:pancreas |
RGD |
PMID:12604914 |
RGD:2293139 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Btg2 |
BTG anti-proliferation factor 2 |
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IEP |
mRNA:increased expression:liver, kidney, pancreas |
RGD |
PMID:9712737 |
RGD:2289078 |
NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
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C5 |
complement C5 |
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ISO |
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RGD |
PMID:11292607 |
RGD:5130168 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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C5ar1 |
complement C5a receptor 1 |
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ISO |
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RGD |
PMID:11292607 |
RGD:5130168 |
NCBI chr 1:76,948,622...76,959,826
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Calca |
calcitonin-related polypeptide alpha |
resistance |
IDA |
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RGD |
PMID:19684430 |
RGD:5684345 |
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Casp3 |
caspase 3 |
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IEP |
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RGD |
PMID:18288275 |
RGD:2293324 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
severity treatment |
IEP IDA |
mRNA:increased expression:pancreas |
RGD |
PMID:18642776 PMID:19050604 |
RGD:2307010, RGD:11062108 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Cd46 |
CD46 molecule |
severity |
IEP |
|
RGD |
PMID:16425382 |
RGD:1600479 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cd59b |
CD59b molecule |
severity |
IEP |
protein:decreased expression:pancreas, acinar cell |
RGD |
PMID:16425382 |
RGD:1600479 |
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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G |
Ctsb |
cathepsin B |
|
IEP |
protein:increased activity:pancreas (rat) |
RGD |
PMID:17723883 |
RGD:2315517 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
IEP |
mRNA:increased expression:pancreatic acinar cell |
RGD |
PMID:19818401 |
RGD:5135004 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
severity |
IEP |
|
RGD |
PMID:18642776 |
RGD:2307010 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
protein:increased expression:pancreas, lung (rat) |
RGD |
PMID:20950211 |
RGD:4145335 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il17a |
interleukin 17A |
|
IEP |
protein:increased expression:pancreas, serum (rat) |
RGD |
PMID:22990529 |
RGD:9068935 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1b |
interleukin 1 beta |
|
IEP |
mRNA:increased expression:peritoneal macrophages (rat) |
RGD |
PMID:22964727 |
RGD:7204517 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
rat model treated with human protein |
RGD |
PMID:7736749 |
RGD:8551826 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il6 |
interleukin 6 |
treatment |
IDA IEP |
protein:increased expression:plasma (rat) |
RGD |
PMID:11780340 PMID:19050604 |
RGD:11062058, RGD:11062108 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G |
Mif |
macrophage migration inhibitory factor |
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IDA |
|
RGD |
PMID:12612911 |
RGD:727512 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
IEP |
mRNA:increased expression:pancreas (rat) |
RGD |
PMID:11590325 |
RGD:7207204 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Nfkbia |
NFKB inhibitor alpha |
treatment |
IEP |
|
RGD |
PMID:19174608 |
RGD:10414072 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nos1 |
nitric oxide synthase 1 |
treatment |
IDA |
|
RGD |
PMID:23300603 |
RGD:7257665 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nos2 |
nitric oxide synthase 2 |
|
IEP |
protein:increased enzyme activity:pancreas |
RGD |
PMID:15257108 |
RGD:2325241 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Pdx1 |
pancreatic and duodenal homeobox 1 |
|
IEP |
protein:increased expression:epithelial cell of pancreas (rat) |
RGD |
PMID:12210084 |
RGD:2311232 |
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G |
Pthlh |
parathyroid hormone-like hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25035110 |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
IEP |
protein:increased expression:pancreas |
RGD |
PMID:18241655 |
RGD:2298789 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Selp |
selectin P |
|
IMP |
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RGD |
PMID:19451746 |
RGD:2312307 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Serpine1 |
serpin family E member 1 |
disease_progression |
IEP ISO |
protein:increased expression:plasma (rat) |
RGD |
PMID:17446839 PMID:15257107 |
RGD:8547894, RGD:13208542 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Serpinf2 |
serpin family F member 2 |
|
IDA |
protein:increased expression:plasma |
RGD |
PMID:10423332 |
RGD:1625538 |
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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G |
Tacr1 |
tachykinin receptor 1 |
|
IEP |
mRNA,protein:increased expression:lung |
RGD |
PMID:12857498 |
RGD:5147821 |
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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G |
Tbxas1 |
thromboxane A synthase 1 |
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IDA |
|
RGD |
PMID:9700944 |
RGD:1601470 |
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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G |
Tlr2 |
toll-like receptor 2 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:16524509 |
RGD:2312724 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:16524509 |
RGD:2312724 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
|
IEP |
mRNA, protein:increased expression:pancreas (rat) |
RGD |
PMID:18376319 |
RGD:5130184 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Arf1 |
ARF GTPase 1 |
treatment |
ISO |
|
RGD |
PMID:22570480 |
RGD:9684857 |
NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
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IEP |
mRNA,protein:increased expression:pancreas |
RGD |
PMID:19726343 |
RGD:9586043 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
protein:increased expression:pancreatic acinar cell: |
RGD |
PMID:19585519 |
RGD:9491843 |
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Cck |
cholecystokinin |
disease_progression |
ISO |
protein:decreased expression:blood plasma (human) |
RGD |
PMID:11185710 |
RGD:407419866 |
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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G |
Cd163 |
CD163 molecule |
|
ISO |
associated with liver disease;protein:increased expression:blood serum (human) |
RGD |
PMID:26339412 |
RGD:11251207 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
treatment |
IMP |
|
RGD |
PMID:22213034 |
RGD:9491790 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
protein:increased expression:serum (human, mouse) |
RGD |
PMID:27923687 |
RGD:14398732 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
F7 |
coagulation factor VII |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:17506000 |
RGD:11049543 |
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Irf9 |
interferon regulatory factor 9 |
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IEP |
mRNA,protein:increased expression:kidney |
RGD |
PMID:32462510 |
RGD:125093744 |
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
IEP |
mRNA,protein:decreased expression:jejunum |
RGD |
PMID:23599644 |
RGD:12910752 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Lep |
leptin |
|
IEP |
associated with fatty liver disease; protein:increased expression:serum: |
RGD |
PMID:26634430 |
RGD:11552763 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Mir155 |
microRNA 155 |
severity |
ISO |
|
RGD |
PMID:29937734 PMID:30497068 |
RGD:21403683, RGD:21408596 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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G |
Mtnr1b |
melatonin receptor 1B |
|
IMP |
|
RGD |
PMID:12510864 |
RGD:9588676 |
NCBI chr 8:12,638,219...12,652,737
Ensembl chr 8:12,638,219...12,652,737
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|
G |
Reg3a |
regenerating islet-derived 3 alpha |
severity |
IMP |
|
RGD |
PMID:19129610 |
RGD:9850139 |
NCBI chr 4:110,872,398...110,875,157
Ensembl chr 4:110,872,425...110,875,157
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G |
Reg3b |
regenerating family member 3 beta |
severity |
IMP |
|
RGD |
PMID:18437087 |
RGD:9831433 |
NCBI chr 4:112,419,776...112,423,014
Ensembl chr 4:110,861,775...110,865,015
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G |
Serpina1 |
serpin family A member 1 |
|
IEP ISO |
associated with fatty liver disease; protein:decreased expression:serum: |
RGD |
PMID:26634430 PMID:26634430 |
RGD:11552763, RGD:11552763 |
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:18436016 |
RGD:14697701 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
severity ameliorates |
ISO IDA |
|
RGD |
PMID:26250893 PMID:19787284 |
RGD:11522077, RGD:127284839 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
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...
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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G |
Tbx19 |
T-box transcription factor 19 |
|
ISO ISS |
OMIM:201400 ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: TBX19-related condition CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar 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...
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NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
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G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12203118 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Car2 |
carbonic anhydrase 2 |
|
ISO |
|
RGD |
PMID:15831920 |
RGD:408425973 |
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Cck |
cholecystokinin |
disease_progression |
ISO |
protein:decreased expression:blood plasma (human) |
RGD |
PMID:11185710 |
RGD:407419866 |
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
DNA:missense mutations: :p.L1156F, Q1352H (human) |
RGD |
PMID:26089335 |
RGD:11566036 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Pthlh |
parathyroid hormone-like hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22280800 |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Ugt1a7c |
UDP glucuronosyltransferase 1 family, polypeptide A7C |
|
ISO |
DNA:polymorphisms: :p.N129K, p.R131K, p.W208R (human) |
RGD |
PMID:12806614 |
RGD:2317503 |
NCBI chr 9:88,739,577...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Gdf1 |
growth differentiation factor 1 |
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ISS |
OMIM:167750 |
MouseDO |
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NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISS |
OMIM:167750 |
MouseDO |
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NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Car2 |
carbonic anhydrase 2 |
|
ISO |
|
RGD |
PMID:15831920 |
RGD:408425973 |
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
RT1-Bb |
RT1 class II, locus Bb |
severity |
ISO |
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) |
RGD |
PMID:18155707 |
RGD:5147621 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Reg1a |
regenerating family member 1 alpha |
|
ISO |
protein:decreased expression:pancreatic juice (human) |
RGD |
PMID:3147713 |
RGD:9850117 |
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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G |
Cpt1a |
carnitine palmitoyltransferase 1A |
|
ISO ISS |
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency OMIM:255120 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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 PMID:36544340 More...
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NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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G |
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 ClinVar OMIM |
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:29429925 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30476936 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31770251 PMID:32295037 PMID:32489884 PMID:32528171 PMID:33123633 PMID:34063237 PMID:34112556 PMID:35360862 PMID:38168614 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Cbs |
cystathionine beta synthase |
|
IEP |
protein:increased expression:arcuate nucleus (rat) |
RGD |
PMID:27778022 |
RGD:38456012 |
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Gli1 |
GLI family zinc finger 1 |
|
IEP |
|
RGD |
PMID:24782623 |
RGD:12879405 |
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:22173919 |
RGD:10044253 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
IEP |
|
RGD |
PMID:22359633 |
RGD:11035224 |
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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G |
Ptch1 |
patched 1 |
|
IEP |
|
RGD |
PMID:24782623 |
RGD:12879405 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Smo |
smoothened, frizzled class receptor |
|
IEP |
|
RGD |
PMID:24782623 |
RGD:12879405 |
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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|
G |
Spink1 |
serine peptidase inhibitor, Kazal type 1 |
treatment |
IDA IEP |
protein:increased secretion:pancreatic juice: |
RGD |
PMID:19904222 PMID:12123090 PMID:22173919 |
RGD:10043091, RGD:10044261, RGD:10044253 |
NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
IEP |
|
RGD |
PMID:26645248 |
RGD:14995470 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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|
G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:31870801 |
RGD:597621670 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
protein:decreased expression:blood plasma (human) |
RGD |
PMID:11555832 |
RGD:5685680 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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|
G |
Bad |
BCL2-associated agonist of cell death |
severity |
IEP |
|
RGD |
PMID:22549003 |
RGD:10053701 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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|
G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
protein:increased expression:pancreatic acinar cell: protein:increased expression:exocrine pancreas: |
RGD |
PMID:19585519 PMID:19585519 |
RGD:9491843, RGD:9491843 |
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Car1 |
carbonic anhydrase 1 |
|
ISO |
|
RGD |
PMID:12806141 |
RGD:408425977 |
NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
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G |
Car2 |
carbonic anhydrase 2 |
|
ISO |
|
RGD |
PMID:12806141 |
RGD:408425977 |
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Cel |
carboxyl ester lipase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25774637 |
|
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic pancreatitis |
CTD ClinVar |
PMID:10746558 PMID:15536480 PMID:16189704 PMID:16193325 PMID:16244288 PMID:16251901 PMID:16617247 PMID:17329263 PMID:17448246 PMID:17662673 PMID:18206817 PMID:18685558 PMID:18716917 PMID:20021716 PMID:20059485 PMID:21388895 PMID:21520337 PMID:23276700 PMID:23420618 PMID:25033378 PMID:25741868 PMID:26467025 PMID:26708955 PMID:27171515 PMID:27214204 PMID:27728908 PMID:28492532 PMID:28603918 PMID:29589582 PMID:29805046 PMID:32143663 PMID:32387800 PMID:33341408 PMID:33577586 PMID:33922413 PMID:36264955 More...
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|
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
IDA |
|
RGD |
PMID:21926544 |
RGD:8552779 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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|
G |
Cpa1 |
carboxypeptidase A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23955596 |
|
NCBI chr 4:59,257,417...59,263,544
Ensembl chr 4:59,257,417...59,263,544
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|
G |
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...
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|
NCBI chr 5:154,147,314...154,156,540
Ensembl chr 5:154,147,316...154,156,528
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G |
Cygb |
cytoglobin |
|
IEP |
|
RGD |
PMID:14647402 |
RGD:9685173 |
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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G |
Dll1 |
delta like canonical Notch ligand 1 |
|
ISO |
mRNA,protein:increased expression:pancreas |
RGD |
PMID:17114010 |
RGD:6482236 |
NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
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|
G |
Ifng |
interferon gamma |
disease_progression |
IEP |
|
RGD |
PMID:11345142 |
RGD:10755767 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
mRNA,protein:increased expression:pancreas |
RGD |
PMID:17114010 |
RGD:6482236 |
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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|
G |
Ngf |
nerve growth factor |
|
IEP |
protein:increased expression:pancreas |
RGD |
PMID:16098667 |
RGD:5144071 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
|
ISO |
mRNA:increased expression:pancreas (human) |
RGD |
PMID:12741461 |
RGD:5508378 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Prss1 |
serine protease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206817 |
|
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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|
G |
Pthlh |
parathyroid hormone-like hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25035110 |
|
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Reg1a |
regenerating family member 1 alpha |
|
IEP |
protein:increased expression:pancreas, acinar cell, zymogen granule (rat) |
RGD |
PMID:12764608 |
RGD:9831428 |
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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G |
Reg3b |
regenerating family member 3 beta |
treatment |
IDA IEP |
protein:increased expression:pancreas, acinar cell, zymogen granule (rat) |
RGD |
PMID:10505754 PMID:12764608 |
RGD:9831401, RGD:9831428 |
NCBI chr 4:112,419,776...112,423,014
Ensembl chr 4:110,861,775...110,865,015
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G |
Rnf2 |
ring finger protein 2 |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:19585519 |
RGD:9491843 |
NCBI chr13:63,553,964...63,584,047
Ensembl chr13:63,554,862...63,583,099
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G |
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...
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RGD:1599102 |
NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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G |
Abcc8 |
ATP binding cassette subfamily 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:10204114 PMID:10334322 PMID:10338089 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 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:15580558 PMID:15718250 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:17389331 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:18596924 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:20301549 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20922570 PMID:20943781 PMID:21199866 PMID:21321069 PMID:21378087 PMID:21536946 PMID:21716120 PMID:21738553 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22591706 PMID:22701567 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:26448950 PMID:26467025 PMID:26545620 PMID:26740944 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27908292 PMID:28270372 PMID:28323911 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:30753133 PMID:30873120 PMID:31216263 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31589614 PMID:31821855 PMID:32027066 PMID:32170320 PMID:32267248 PMID:32376986 PMID:32670376 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33013711 PMID:33046911 PMID:33240318 PMID:33410562 PMID:33477506 PMID:33587123 PMID:34253504 PMID:34566892 PMID:34764980 PMID:34927408 PMID:34992182 PMID:35475025 PMID:36144251 PMID:36208030 PMID:36239000 PMID:36339418 PMID:36699461 PMID:36836406 PMID:38095268 PMID:38513803 PMID:7716548 PMID:23506826 PMID:23652837 PMID:20573158 PMID:16429405 PMID:24401662 PMID:21422196 PMID:18596924 More...
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RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 |
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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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...
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NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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G |
Glud1 |
glutamate dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial hyperinsulinism |
ClinVar RGD |
PMID:22730017 PMID:23506826 PMID:25741868 PMID:31119523 PMID:32005694 PMID:34992182 PMID:35951311 PMID:9571255 More...
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RGD:1302513 |
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Hadh |
hydroxyacyl-CoA dehydrogenase |
|
ISO |
DNA:deletion:cds (human) |
RGD |
PMID:14693719 |
RGD:2306664 |
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
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G |
Hnf4a |
hepatocyte 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...
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RGD:12904701 |
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | 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:15998776 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:20980454 PMID:21119644 PMID:21544516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22831748 PMID:23275527 PMID:24018988 PMID:24383515 PMID:24401662 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26545876 PMID:27908292 PMID:28123437 PMID:28492532 PMID:28938416 PMID:29893194 PMID:30377186 PMID:32935446 PMID:36208030 PMID:23506826 PMID:23652837 PMID:24401662 PMID:17316607 PMID:24421282 More...
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RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 |
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Kcnt2 |
potassium sodium-activated channel subfamily T member 2 |
|
ISO |
ClinVar Annotator: match by term: KCNT2-related condition |
ClinVar |
PMID:25741868 PMID:29069600 |
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NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
|
RGD |
PMID:19470471 |
RGD:7248544 |
NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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G |
Adrb1 |
adrenoceptor beta 1 |
|
ISO |
|
RGD |
PMID:20203292 |
RGD:5129107 |
NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259
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G |
Adrb2 |
adrenoceptor beta 2 |
|
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:20203292 PMID:17502834 |
RGD:5129107, RGD:4145099 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Adrb3 |
adrenoceptor beta 3 |
|
ISO |
protein:increased expression:bronchus |
RGD |
PMID:20203292 |
RGD:5129107 |
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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G |
Ager |
advanced glycosylation end product-specific receptor |
severity |
ISO |
DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human) |
RGD |
PMID:21993476 PMID:24127697 |
RGD:6767553, RGD:8695959 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Akp3 |
alkaline phosphatase 3, intestine, not Mn requiring |
|
ISO |
mRNA,protein:decreased expression:intestine: |
RGD |
PMID:21970994 |
RGD:14349050 |
NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
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G |
Asz1 |
ankyrin repeat, SAM and basic leucine zipper domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:1695717 PMID:7691345 PMID:9725922 PMID:11781704 PMID:15520400 PMID:28492532 More...
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|
NCBI chr 4:46,400,485...46,456,085
Ensembl chr 4:46,400,485...46,456,085
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:16622660 |
RGD:6483578 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
C5 |
complement C5 |
severity |
ISO |
|
RGD |
PMID:3540828 |
RGD:5130162 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
Capza2 |
capping actin protein of muscle Z-line subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:1695717 PMID:7691345 PMID:9725922 PMID:11781704 PMID:15520400 PMID:28492532 More...
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NCBI chr 4:45,978,142...46,014,032
Ensembl chr 4:45,977,807...46,013,864
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G |
Cav1 |
caveolin 1 |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:1695717 PMID:7691345 PMID:9725922 PMID:11781704 PMID:15520400 PMID:28492532 More...
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NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
protein:increased expression:paranasal sinus |
RGD |
PMID:17999785 |
RGD:4145455 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
mRNA, protein:increased expression:neutrophil |
RGD |
PMID:18026571 |
RGD:4145491 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20438838 |
RGD:4143275 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
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RGD |
PMID:20575639 PMID:19386685 |
RGD:5130907, RGD:5130902 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19017998 |
RGD:4145632 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Cd14 |
CD14 molecule |
susceptibility |
ISO |
protein:increased expression:Macrophages, Alveolar DNA:polymorphism:promoter:c. -159 C>T |
RGD |
PMID:20302606 PMID:19466271 |
RGD:4144794, RGD:4144796 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:blood |
RGD |
PMID:15102009 |
RGD:7248443 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cftr |
CF transmembrane conductance regulator |
severity no_association disease_progression |
ISO ISS IMP |
DNA:missense mutation:exon:p.W1282X(human) ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis OMIM:219700 CTD Direct Evidence: marker/mechanism DNA,protein:mutations,substitutions:exon: DNA:mutation:exon:p.R117H(human) DNA:nonsense mutation:cds;c. 2143delT (human) DNA:mutation:cds:p.G551D (mouse) DNA:insertion:exon:c.3904_3905insT (human) DNA:mutations:multiple DNA:mutation: :p.N1303K (human) DNA:splice-site mutation:intron: 3272-26A>G (human) DNA:mutations: : DNA:deletion:exon:p.F508del(mouse) DNA:missense mutations: :p.F508C, S1251N DNA:missende mutation:exon:p.G551D (human) protein:altered expression:lung |
ClinVar MouseDO CTD 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:1879436 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:7509564 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:7539448 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:8782047 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 PMID:9806422 PMID:9822639 PMID:9842999 PMID:9849891 PMID:9853928 PMID:9881185 PMID:9895335 PMID:9915972 PMID:9917439 PMID:9920885 PMID:9921909 PMID:9922378 PMID:9950364 PMID:9950763 PMID:10026154 PMID:10050655 PMID:10077727 PMID:10094564 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10220340 PMID:10225950 PMID:10228103 PMID:10341008 PMID:10351951 PMID:10362539 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10419506 PMID:10425036 PMID:10425081 PMID:10439967 PMID:10445602 PMID:10447267 PMID:10453741 PMID:10462611 PMID:10480369 PMID:10503604 PMID:10515411 PMID:10517260 PMID:10556281 PMID:10562297 PMID:10562541 PMID:10571949 PMID:10571955 PMID:10601093 PMID:10605524 PMID:10612827 PMID:10612849 PMID:10636451 PMID:10639207 PMID:10651488 PMID:10652351 PMID:10653140 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10671057 PMID:10719683 PMID:10736180 PMID:10738007 PMID:10746558 PMID:10755189 PMID:10762539 PMID:10764788 PMID:10777364 PMID:10782933 PMID:10790220 PMID:10790222 PMID:10790225 PMID:10794365 PMID:10798353 PMID:10798368 PMID:10801389 PMID:10812063 PMID:10819640 PMID:10827969 PMID:10834512 PMID:10836331 PMID:10852925 PMID:10862085 PMID:10862786 PMID:10866956 PMID:10869121 PMID:10874326 PMID:10875853 PMID:10875874 PMID:10875876 PMID:10878476 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10922396 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10963013 PMID:10970190 PMID:10980550 PMID:10980579 PMID:10982968 PMID:10993719 PMID:11001817 PMID:11005149 PMID:11022925 PMID:11025834 PMID:11038458 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11102992 PMID:11108532 PMID:11118444 PMID:11119745 PMID:11137998 PMID:11158459 PMID:11168023 PMID:11168024 PMID:11171377 PMID:11180668 PMID:11186891 PMID:11216394 PMID:11219165 PMID:11242048 PMID:11276378 PMID:11278813 PMID:11280952 PMID:11288708 PMID:11288718 PMID:11295849 PMID:11303509 PMID:11303517 PMID:11336127 PMID:11336401 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11390899 PMID:11401894 PMID:11427889 PMID:11430710 PMID:11443282 PMID:11446424 PMID:11448786 PMID:11462247 PMID:11466205 PMID:11471192 PMID:11484207 PMID:11491162 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11555145 PMID:11585852 PMID:11589722 PMID:11597353 PMID:11668613 PMID:11729110 PMID:11732487 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11786964 PMID:11788090 PMID:11788091 PMID:11788611 PMID:11796430 PMID:11796434 PMID:11796591 PMID:11810271 PMID:11823443 PMID:11845002 PMID:11882668 PMID:11883825 PMID:11888281 PMID:11924117 PMID:11933191 PMID:11938353 PMID:11938439 PMID:11950844 PMID:12000363 PMID:12001283 PMID:12007216 PMID:12014388 PMID:12070257 PMID:12070264 PMID:12080183 PMID:12084728 PMID:12089190 PMID:12110684 PMID:12116247 PMID:12120234 PMID:12124706 PMID:12124743 PMID:12127423 PMID:12133923 PMID:12151438 PMID:12166651 PMID:12167682 PMID:12172395 PMID:12183675 PMID:12186867 PMID:12200467 PMID:12215837 PMID:12357328 PMID:12361483 PMID:12394343 PMID:12397022 PMID:12400067 PMID:12414835 PMID:12422349 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12521276 PMID:12529365 PMID:12529713 PMID:12530290 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12630722 PMID:12651858 PMID:12651880 PMID:12658038 PMID:12679372 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12783301 PMID:12815607 PMID:12820707 PMID:12825076 PMID:12829453 PMID:12833420 PMID:12843327 PMID:12843337 PMID:12865275 PMID:12874665 PMID:12900515 PMID:12913074 PMID:12919146 PMID:12938099 PMID:12939655 PMID:12939925 PMID:12940920 PMID:12952861 PMID:12955726 PMID:14526128 PMID:14551163 PMID:14586256 PMID:14618962 PMID:14623323 PMID:14641997 PMID:14685259 PMID:14685937 PMID:14696845 PMID:14872121 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15008989 PMID:15017334 PMID:15024729 PMID:15025720 PMID:15040442 PMID:15046061 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15130785 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15181619 PMID:15218997 PMID:15241793 PMID:15246977 PMID:15284228 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357566 PMID:15357568 PMID:15365999 PMID:15367919 PMID:15367921 PMID:15371902 PMID:15371903 PMID:15371905 PMID:15371907 PMID:15371908 PMID:15390350 PMID:15463840 PMID:15463866 PMID:15463882 PMID:15463888 PMID:15463898 PMID:15463906 PMID:15463907 PMID:15463917 PMID:15463919 PMID:15480987 PMID:15482777 PMID:15486385 PMID:15502086 PMID:15504721 PMID:15507674 PMID:15509635 PMID:15520400 PMID:15531750 PMID:15536480 PMID:15537723 PMID:15562283 PMID:15591474 PMID:15614862 PMID:15618592 PMID:15619635 PMID:15638824 PMID:15640323 PMID:15645635 PMID:15666307 PMID:15681482 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15705389 PMID:15716623 PMID:15727251 PMID:15729345 PMID:15738290 PMID:15744517 PMID:15744523 PMID:15744829 PMID:15754262 PMID:15758663 PMID:15772171 PMID:15775704 PMID:15775760 PMID:15776432 PMID:15784035 PMID:15829248 PMID:15840711 PMID:15841482 PMID:15853950 PMID:15857421 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15948195 PMID:15952991 PMID:15970608 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16037690 PMID:16049310 PMID:16051530 PMID:16075239 PMID:16126774 PMID:16128988 PMID:16132229 PMID:16134171 PMID:16137181 PMID:16141195 PMID:16170155 PMID:16187186 PMID:16189704 PMID:16193325 PMID:16196493 PMID:16199547 PMID:16202788 PMID:16202790 PMID:16212675 PMID:16240056 PMID:16244288 PMID:16251901 PMID:16263954 PMID:16266832 PMID:16272798 PMID:16275171 PMID:16283068 PMID:16283887 PMID:16311287 PMID:16330381 PMID:16339147 PMID:16362824 PMID:16379540 PMID:16417523 PMID:16423550 PMID:16429425 PMID:16435054 PMID:16436643 PMID:16436646 PMID:16442101 PMID:16443646 PMID:16454991 PMID:16463024 PMID:16478680 PMID:16481891 PMID:16484308 PMID:16488363 PMID:16493442 PMID:16499810 PMID:16572913 PMID:16596947 PMID:16617247 PMID:16635477 PMID:16678395 PMID:16678503 PMID:16714368 PMID:16741161 PMID:16763370 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16786510 PMID:16801189 PMID:16822950 PMID:16837250 PMID:16837565 PMID:16840743 PMID:16915933 PMID:16931591 PMID:16938751 PMID:16963320 PMID:16980811 PMID:16989640 PMID:16990428 PMID:17003641 PMID:17015492 PMID:17020467 PMID:17020473 PMID:17035430 PMID:17043152 PMID:17048214 PMID:17062471 PMID:17076271 PMID:17095337 PMID:17098482 PMID:17098864 PMID:17127107 PMID:17137500 PMID:17172597 PMID:17175965 PMID:17186573 PMID:17206681 PMID:17234733 PMID:17235394 PMID:17244607 PMID:17251329 PMID:17272608 PMID:17283574 PMID:17290305 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17348320 PMID:17353351 PMID:17378246 PMID:17380060 PMID:17398169 PMID:17407485 PMID:17407489 PMID:17413420 PMID:17440499 PMID:17448246 PMID:17449517 PMID:17475917 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17507277 PMID:17516627 PMID:17525091 PMID:17539902 PMID:17541014 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PMID:34842611 PMID:34850610 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:35072004 PMID:35086832 PMID:35096544 PMID:35109852 PMID:35110256 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:35716026 PMID:35753512 PMID:35791043 PMID:35816621 PMID:35857025 PMID:35858753 PMID:35894192 PMID:35913788 PMID:35934641 PMID:35997436 PMID:36038301 PMID:36102402 PMID:36142302 PMID:36174992 PMID:36207272 PMID:36238762 PMID:36249513 PMID:36259570 PMID:36264955 PMID:36272381 PMID:36286063 PMID:36293274 PMID:36319933 PMID:36335097 PMID:36369753 PMID:36372909 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:36796836 PMID:36828084 PMID:36832409 PMID:36834620 PMID:36969284 PMID:36982273 PMID:36986509 PMID:37000148 PMID:37006619 PMID:37050906 PMID:37168916 PMID:37274793 PMID:37296477 PMID:37310422 PMID:37313453 PMID:37327085 PMID:37389024 PMID:37431359 PMID:37443404 PMID:37547293 PMID:37622442 PMID:37628659 PMID:37696564 PMID:37701179 PMID:37777263 PMID:37823318 PMID:37867076 PMID:37975497 PMID:37980178 PMID:38203285 PMID:38352056 PMID:38388235 PMID:38493004 PMID:38501349 PMID:38601560 PMID:38695616 PMID:38825435 PMID:38966678 PMID:63921865 PMID:238191399 PMID:1370365 PMID:31942562 PMID:24608905 PMID:11823443 PMID:2344617 PMID:19880712 PMID:1283149 PMID:11504703 PMID:9254853 PMID:17099022 PMID:19202204 PMID:1380943 PMID:11732487 PMID:9439669 PMID:7560099 PMID:9429141 PMID:1284535 PMID:1379413 PMID:19620404 PMID:1380723 PMID:17902144 More...
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RGD:4140436, RGD:126928119, RGD:11566051, RGD:734772, RGD:4140394, RGD:4140393, RGD:4140439, RGD:4140481, RGD:4140401, RGD:4140392, RGD:4140429, RGD:4140440, RGD:4140450, RGD:4140464, RGD:4140428, RGD:4140465, RGD:4140438, RGD:4140442, RGD:4140422, RGD:4139910, RGD:4140435 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Cftrem1Ang |
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang |
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IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
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G |
Cftrem1Sage |
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage |
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IMP |
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RGD |
PMID:24608905 |
RGD:11566051 |
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G |
Cftrem2Ang |
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang |
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IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
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G |
Clca1 |
chloride channel accessory 1 |
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ISO |
mRNA, protein:increased expression:respiratory system mucosa |
RGD |
PMID:15218996 |
RGD:4145657 |
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
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G |
Clcn2 |
chloride voltage-gated channel 2 |
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IDA |
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RGD |
PMID:8811102 |
RGD:704390 |
NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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G |
Cln6 |
CLN6, transmembrane ER protein |
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ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:12815591 PMID:19135028 PMID:21990111 PMID:25741868 PMID:28492532 |
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NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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G |
Cpa1 |
carboxypeptidase A1 |
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ISO |
ClinVar Annotator: match by term: Mucoviscidosis |
ClinVar |
PMID:23955596 PMID:25741868 PMID:28492532 |
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NCBI chr 4:59,257,417...59,263,544
Ensembl chr 4:59,257,417...59,263,544
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G |
Csf3r |
colony stimulating factor 3 receptor |
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ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19293384 |
RGD:5133738 |
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Cttnbp2 |
cortactin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:11938439 PMID:22020151 PMID:25910067 PMID:28492532 PMID:28544683 PMID:30444886 More...
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NCBI chr 4:46,800,975...46,964,681
Ensembl chr 4:46,800,981...46,964,631
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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ISO |
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum |
RGD |
PMID:20818377 PMID:20818377 |
RGD:5135034, RGD:5135034 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
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ISO |
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum |
RGD |
PMID:20818377 PMID:20818377 |
RGD:5135034, RGD:5135034 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
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ISO |
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RGD |
PMID:19597126 |
RGD:5135456 |
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
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RGD |
PMID:19597126 |
RGD:5135456 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:20818377 |
RGD:5135034 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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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:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
severity |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:14593914 |
RGD:4889126 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G |
Dctn4 |
dynactin subunit 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22772370 |
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NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399
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G |
Defb4 |
defensin beta 4 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:9843998 |
RGD:4892267 |
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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G |
Defb5 |
defensin beta 5 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:9843998 |
RGD:4892267 |
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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G |
Edn1 |
endothelin 1 |
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ISO |
protein:increased expression:sputum (human) |
RGD |
PMID:10445603 |
RGD:4145062 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Eng |
endoglin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30806029 |
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NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Ephx1 |
epoxide hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Mucoviscidosis |
ClinVar |
PMID:7516776 PMID:9288046 PMID:12704386 PMID:17532303 PMID:19017876 PMID:23426996 PMID:25741868 More...
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NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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G |
Fas |
Fas cell surface death receptor |
severity |
ISO |
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RGD |
PMID:18685642 |
RGD:12903971 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:10567629 |
RGD:12904024 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr2a |
Fc gamma receptor 2A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 PMID:25741868 More...
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NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
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ISO |
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RGD |
PMID:16690975 |
RGD:5134682 |
NCBI chr 8:87,510,251...87,548,896
Ensembl chr 8:78,630,127...78,668,544
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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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstm3 |
glutathione S-transferase mu 3 |
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ISO |
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RGD |
PMID:15115915 |
RGD:5135040 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
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ISO |
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RGD |
PMID:15115915 |
RGD:5135040 |
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
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ISO |
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RGD |
PMID:21263071 |
RGD:5135530 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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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:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526 PMID:30291871 More...
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RGD:14701045 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
mRNA:protein:increased expression:lung |
RGD |
PMID:15184199 |
RGD:4145410 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
severity |
ISO |
DNA:polymorphism, haplotype: :1267A>G (human) |
RGD |
PMID:21993476 PMID:21993476 |
RGD:6767553, RGD:6767553 |
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:8255671 |
RGD:12910480 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:increased expression:respiratory tract epithelium (rat) |
RGD |
PMID:22461702 |
RGD:12904899 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
protein:decreased expression:serum: |
RGD |
PMID:15310308 |
RGD:12743589 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Il13 |
interleukin 13 |
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ISO |
mRNA:increased expression:bronchoalveolar lavage fluid |
RGD |
PMID:15463872 |
RGD:4312589 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il17a |
interleukin 17A |
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ISO |
protein:increased expression:serum protein:increased expression:lung |
RGD |
PMID:19342416 PMID:21109552 |
RGD:4889105, RGD:4889130 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20026745 |
RGD:4889551 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il18bp |
interleukin 18 binding protein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20026745 |
RGD:4889551 |
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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G |
Il1a |
interleukin 1 alpha |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:8333775 |
RGD:4142849 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
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 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased expression:sputum protein:decreased expression:blood, neutrophil |
RGD |
PMID:10515411 PMID:12547728 |
RGD:4143181, RGD:4143175 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:blood protein:increased expression:lung |
RGD |
PMID:16403491 PMID:20438838 |
RGD:5128672, RGD:4143275 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G |
Il9 |
interleukin 9 |
|
ISO |
protein:increased expression:respiratory system mucosa |
RGD |
PMID:12782818 |
RGD:5128699 |
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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G |
Il9r |
interleukin 9 receptor |
|
ISO |
protein:increased expression:respiratory system mucosa |
RGD |
PMID:12782818 |
RGD:5128699 |
NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
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G |
Irf1 |
interferon regulatory factor 1 |
|
ISO |
protein:decreased expression:intestine epithelium, nasal cavity epithelium |
RGD |
PMID:10930443 |
RGD:5128720 |
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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G |
Lep |
leptin |
severity |
ISO |
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RGD |
PMID:18353734 |
RGD:5128819 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lta |
lymphotoxin alpha |
severity |
ISO |
DNA:polymorphism, haplotype: :252A>G (human) |
RGD |
PMID:21993476 |
RGD:6767553 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Mbl2 |
mannose binding lectin 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:25741868 PMID:28492532 PMID:16879250 PMID:10449435 More...
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RGD:4889443, RGD:4889447 |
NCBI chr 1:228,016,439...228,024,736
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:1695717 PMID:7691345 PMID:9725922 PMID:11781704 PMID:15520400 PMID:28492532 More...
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mif |
macrophage migration inhibitory factor |
severity |
ISO |
DNA:repeats:promoter |
RGD |
PMID:16179637 |
RGD:4891053 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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G |
Mir155 |
microRNA 155 |
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ISO |
miRNA:increased expression:serum |
RGD |
PMID:27689251 |
RGD:25671378 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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G |
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
severity |
ISO |
DNA:polymorphism:promoter:-463G>A (human) |
RGD |
PMID:20954832 PMID:16883063 |
RGD:5130986, RGD:5130968 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Muc1 |
mucin 1, cell surface associated |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:19960788 |
RGD:5131272 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
mRNA:increased expression:nasal mucosa (human) |
RGD |
PMID:9155717 |
RGD:5131426 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:17255563 |
RGD:5131191 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
protein:altered glycosylation:saliva |
RGD |
PMID:17255563 PMID:11845304 |
RGD:5131191, RGD:5131194 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
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ISO |
|
RGD |
PMID:20309575 |
RGD:7364748 |
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
protein:increased oxidation:colonic epithelium, mitochondrion (mouse) |
RGD |
PMID:21518732 |
RGD:6484688 |
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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G |
Nos1 |
nitric oxide synthase 1 |
disease_progression |
ISO |
mRNA:decreased expression:lung DNA:repeats:5'utr |
RGD |
PMID:12064512 PMID:14760158 PMID:11890749 |
RGD:5132865, RGD:5132627, RGD:5132868 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
mRNA,protein:decreased expression:respiratory mucosa |
RGD |
PMID:16517573 |
RGD:4891958 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
DNA:polymorphism:exon: c. 894G>T (human) |
RGD |
PMID:12406848 |
RGD:4892049 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Plg |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes (human) |
RGD |
PMID:16875506 |
RGD:5683626 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Prss1 |
serine protease 1 |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:8625754 |
RGD:1599967 |
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
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ISO |
|
RGD |
PMID:18334635 |
RGD:5135022 |
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
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G |
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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptx3 |
pentraxin 3 |
susceptibility |
ISO |
DNA:SNP:exon:rs35948036(human) |
RGD |
PMID:20927127 |
RGD:35673347 |
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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G |
RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
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ISO |
mRNA:decreased expression::decreased clearance of pathogens? |
RGD |
PMID:20044437 |
RGD:5144066 |
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15077107 PMID:19462466 |
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NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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G |
Scnn1b |
sodium channel epithelial 1 subunit beta |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:219700 |
CTD MouseDO |
PMID:16207733 PMID:16463024 |
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NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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G |
Scnn1g |
sodium channel epithelial 1 subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16463024 |
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NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
ClinVar Annotator: match by term: Mucoviscidosis |
ClinVar |
PMID:301355 PMID:1087161 PMID:1889260 PMID:2567291 PMID:3257660 PMID:6093867 PMID:6602622 PMID:8970361 PMID:10194472 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16608528 PMID:18187064 PMID:18565211 PMID:18566672 PMID:19956452 PMID:20301692 PMID:20981092 PMID:22426792 PMID:22933512 PMID:22975760 PMID:23632999 PMID:23837941 PMID:24033266 PMID:24055113 PMID:25454901 PMID:25637381 PMID:25741868 PMID:26141072 PMID:26672964 PMID:26831755 PMID:27153395 PMID:27465791 PMID:27535533 PMID:27959697 PMID:28492532 PMID:29232161 PMID:29882371 PMID:30585791 PMID:31447099 PMID:31980526 More...
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NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Serpina3n |
serpin family A member 3N |
severity |
ISO |
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RGD |
PMID:11120905 |
RGD:5147439 |
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:15271694 |
RGD:4143403 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
Sftpb |
surfactant protein B |
|
ISO |
mRNA:increased expression:respiratory system mucosa |
RGD |
PMID:17507829 |
RGD:4143381 |
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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G |
Sftpc |
surfactant protein C |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15271694 |
RGD:4143403 |
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Sftpd |
surfactant protein D |
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ISO |
protein:decreased expression, altered degradation:lung |
RGD |
PMID:18211966 |
RGD:4143502 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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G |
St7 |
suppression of tumorigenicity 7 |
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ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:1695717 PMID:7691345 PMID:9725922 PMID:11781704 PMID:15520400 PMID:28492532 More...
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NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:46,042,236...46,289,740
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G |
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...
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RGD:4145125 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:25545245 |
RGD:13204794 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Tlr4 |
toll-like receptor 4 |
severity |
ISO |
protein:increased expression:monocyte |
RGD |
PMID:20717938 PMID:20522639 |
RGD:4144105, RGD:4144179 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
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 chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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G |
Tlr9 |
toll-like receptor 9 |
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ISO |
DNA:snps:multiple (human) |
RGD |
PMID:20837493 |
RGD:5130208 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16463024 |
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NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Wnt2 |
Wnt family member 2 |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:1695717 PMID:7691345 PMID:9725922 PMID:11781704 PMID:15520400 PMID:28492532 More...
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NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402
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G |
Men1 |
menin 1 |
|
ISO |
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : |
RGD |
PMID:17135306 |
RGD:2317341 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Cela3b |
chymotrypsin like elastase 3B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14687815 |
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NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937
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G |
Cftr |
CF 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 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Mtor |
mechanistic target of rapamycin kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29384525 |
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Si |
sucrase-isomaltase |
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IEP |
|
RGD |
PMID:3114740 |
RGD:597538474 |
NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
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G |
Cox4i2 |
cytochrome c oxidase subunit 4i2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome 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 3:141,228,443...141,239,337
Ensembl chr 3:141,228,443...141,239,331
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G |
Elane |
elastase, neutrophil expressed |
treatment |
IMP |
|
RGD |
PMID:18486906 |
RGD:10450567 |
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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G |
Fgf21 |
fibroblast growth factor 21 |
treatment |
ISO |
|
RGD |
PMID:19664632 PMID:19664632 |
RGD:10401870, RGD:10401870 |
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
treatment |
IDA |
|
RGD |
PMID:19195057 |
RGD:12791282 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Reg3b |
regenerating family member 3 beta |
|
IEP |
protein:increased expression:pancreatic juice (rat) |
RGD |
PMID:7809015 |
RGD:9999210 |
NCBI chr 4:112,419,776...112,423,014
Ensembl chr 4:110,861,775...110,865,015
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G |
Tbxa2r |
thromboxane A2 receptor |
treatment |
IMP |
|
RGD |
PMID:11341608 |
RGD:11059600 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Abcc8 |
ATP binding cassette subfamily 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:7908292 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:17317760 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17597441 PMID:17668386 PMID:17823772 PMID:17919176 PMID:17957187 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:20301549 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:21738553 PMID:21814221 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21981106 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22106158 PMID:22151254 PMID:22210575 PMID:22308858 PMID:22311976 PMID:22451668 PMID:22533711 PMID:22562119 PMID:22662265 PMID:22704848 PMID:22749773 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:24622368 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:26092864 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:27065949 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:30193751 PMID:30276209 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30753133 PMID:30873120 PMID:30977832 PMID:31002010 PMID:31110826 PMID:31208162 PMID:31216263 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31589614 PMID:31595705 PMID:31604004 PMID:31700171 PMID:31727138 PMID:31821855 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32418263 PMID:32640185 PMID:32670376 PMID:32763092 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33013711 PMID:33046911 PMID:33240318 PMID:33300273 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33587123 PMID:33728157 PMID:34015902 PMID:34032641 PMID:34135026 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:35475025 PMID:36034573 PMID:36144251 PMID:36239000 PMID:36339418 PMID:36407475 PMID:36626423 PMID:36699461 PMID:36836406 PMID:38095268 PMID:38513803 More...
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NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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G |
Andpro |
androgen regulated protein |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,718,601...136,725,131
Ensembl chr 3:136,718,602...136,724,966
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G |
Banf2 |
BANF family member 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:131,388,130...131,442,832
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G |
Bfsp1 |
beaded filament structural protein 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
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G |
Cd93 |
CD93 molecule |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:135,891,859...135,898,378
Ensembl chr 3:135,891,859...135,898,378
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G |
Cfap61 |
cilia and flagella associated protein 61 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320
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G |
Crnkl1 |
crooked neck pre-mRNA splicing factor 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302 Ensembl chr 6:133,337,039...133,354,302
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G |
Cst11 |
cystatin 11 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,211,414...136,214,138
Ensembl chr 3:136,211,414...136,214,138
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G |
Cst3 |
cystatin C |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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G |
Cst5 |
cystatin D |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:137,573,194...137,577,754
Ensembl chr 3:137,573,194...137,577,754
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G |
Cst8 |
cystatin 8 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273
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G |
Cst9l |
cystatin 9-like |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,288,093...136,290,906
Ensembl chr 3:136,288,093...136,290,906
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G |
Cstl1 |
cystatin-like 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,199,914...136,204,912
Ensembl chr 3:136,199,914...136,204,912
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G |
Dstn |
destrin, actin depolymerizing factor |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379
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G |
Dtd1 |
D-aminoacyl-tRNA deacylase 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,995,870...132,158,646
Ensembl chr 3:131,995,861...132,158,659
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G |
Dzank1 |
double zinc ribbon and ankyrin repeat domains 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,855,890...131,908,217
Ensembl chr 3:131,852,552...131,908,156
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G |
Foxa2 |
forkhead box A2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
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G |
Gzf1 |
GDNF-inducible zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223
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G |
Hadh |
hydroxyacyl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194 |
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NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
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G |
Insm1 |
INSM transcriptional repressor 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003
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G |
Kat14 |
lysine acetyltransferase 14 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
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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...
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NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Kif16b |
kinesin family member 16B |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
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G |
Kiz |
kizuna centrosomal protein |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:134,277,631...134,385,260
Ensembl chr 3:134,277,687...134,385,190
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Mgme1 |
mitochondrial genome maintenance exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
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G |
Naa20 |
N(alpha)-acetyltransferase 20, NatB catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009
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G |
Napb |
NSF attachment protein beta |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
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G |
Nkx2-2 |
NK2 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:134,619,701...134,630,282
Ensembl chr 3:134,620,039...134,622,411
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G |
Nkx2-4 |
NK2 homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:134,514,368...134,517,243
Ensembl chr 3:134,515,039...134,516,505
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G |
Nxt1 |
nuclear transport factor 2-like export factor 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:136,108,975...136,111,897
Ensembl chr 3:136,108,862...136,111,907
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G |
Otor |
otoraplin |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:130,415,339...130,418,601
Ensembl chr 3:130,415,339...130,418,601
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G |
Ovol2 |
ovo-like zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,677,391...131,707,123
Ensembl chr 3:131,677,391...131,708,359
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G |
Pax1 |
paired box 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636
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G |
Pcsk2 |
proprotein convertase subtilisin/kexin type 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
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G |
Pet117 |
PET117 cytochrome c oxidase chaperone |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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Polr3f |
RNA polymerase III subunit F |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,908,466...131,924,838
Ensembl chr 3:131,908,466...131,924,837
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G |
Ralgapa2 |
Ral GTPase activating protein catalytic subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:133,658,725...133,938,821
Ensembl chr 3:133,659,761...133,938,916
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G |
Rbbp9 |
RB binding protein 9, serine hydrolase |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,925,095...131,939,042
Ensembl chr 3:131,925,341...131,932,156
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G |
Rin2 |
Ras and Rab interactor 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
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G |
Rrbp1 |
ribosome binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,314,996...131,376,930
Ensembl chr 3:131,314,998...131,376,981
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G |
Scp2d1 |
SCP2 sterol-binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:132,201,979...132,202,729
Ensembl chr 3:132,200,744...132,212,725
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G |
Sec23b |
Sec23 homolog B, COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
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G |
Slc24a3 |
solute carrier family 24 member 3 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
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G |
Snrpb2 |
small nuclear ribonucleoprotein polypeptide B2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:130,399,239...130,408,821
Ensembl chr 3:130,399,248...130,408,812
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G |
Snx5 |
sorting nexin 5 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,621,875...131,641,127
Ensembl chr 3:131,621,880...131,641,192
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G |
Sstr4 |
somatostatin receptor 4 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
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G |
Thbd |
thrombomodulin |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Xrn2 |
5'-3' exoribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
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G |
Zfp133 |
zinc finger protein 133 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:38605124 |
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NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:131,829,404...131,847,550
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Abcc8 |
ATP binding cassette subfamily C member 8 |
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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...
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NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
|
ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 |
OMIM ClinVar |
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:22831748 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23700433 PMID:24018988 PMID:24383515 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24686051 PMID:24698822 PMID:25247988 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 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 PMID:36208030 More...
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NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Gck |
glucokinase |
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ISO ISS |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency OMIM:602485 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10753050 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11508276 PMID:11553210 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:16444761 PMID:16602010 PMID:16632067 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17082186 PMID:17353190 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18271687 PMID:18382660 PMID:18399931 PMID:18411240 PMID:19146401 PMID:19309449 PMID:19790256 PMID:20132997 PMID:20301620 PMID:20337973 PMID:20375417 PMID:21437567 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:22060211 PMID:22194744 PMID:22291974 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22611063 PMID:22761713 PMID:23295292 PMID:23771925 PMID:24097065 PMID:24323243 PMID:24430320 PMID:24518839 PMID:24578721 PMID:24728127 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25741868 PMID:25850297 PMID:26123671 PMID:26467025 PMID:27080136 PMID:27256595 PMID:27269892 PMID:27913849 PMID:28012402 PMID:28170077 PMID:28492532 PMID:28726111 PMID:29056535 PMID:29510678 PMID:29927023 PMID:30257192 PMID:30259503 PMID:30592380 PMID:30656436 PMID:31094068 PMID:31197960 PMID:31216263 PMID:31291970 PMID:31576961 PMID:31638168 PMID:31957151 PMID:32041611 PMID:32375122 PMID:32533152 PMID:32741144 PMID:32792356 PMID:33072637 PMID:33129248 PMID:33294763 PMID:33565752 PMID:33852230 PMID:34393998 PMID:34686905 PMID:34746319 PMID:35370948 PMID:35472491 PMID:36178555 PMID:36257325 PMID:37008541 More...
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NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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G |
Hadh |
hydroxyacyl-CoA dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency |
OMIM CTD ClinVar |
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...
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NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
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G |
Insr |
insulin receptor |
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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:2365819 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...
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NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Insr |
insulin receptor |
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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:2365819 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...
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NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Glud1 |
glutamate dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: GLUD1-related condition | 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:32005694 PMID:34992182 PMID:35951311 PMID:36239000 More...
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NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Shld2 |
shieldin complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
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G |
Slc16a1 |
solute carrier family 16 member 1 |
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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...
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NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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G |
Slc25a36 |
solute carrier family 25 member 36 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8 |
OMIM ClinVar |
PMID:34576089 PMID:34971397 PMID:36695547 |
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NCBI chr 8:97,659,848...97,693,735
Ensembl chr 8:97,662,127...97,693,703
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G |
Apoa4 |
apolipoprotein A4 |
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ISO |
mRNA:increased expression:pancreas, carcinoma (human) |
RGD |
PMID:16815451 |
RGD:5685662 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Atm |
ATM serine/threonine kinase |
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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:25085752 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...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Bard1 |
BRCA1 associated RING domain 1 |
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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...
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NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Familial pancreatic carcinoma |
ClinVar |
PMID:28492532 |
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
ClinVar Annotator: match by term: Familial pancreatic carcinoma |
ClinVar |
PMID:11433531 PMID:11687599 PMID:12920094 PMID:22841127 PMID:25741868 PMID:28492532 PMID:28592523 PMID:28830827 More...
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Familial pancreatic carcinoma |
ClinVar |
PMID:2547513 PMID:3627975 PMID:15696205 PMID:17332249 PMID:21063026 PMID:22571758 PMID:24033266 PMID:24720724 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26970110 PMID:28492532 PMID:30448735 PMID:30891959 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Familial pancreatic carcinoma |
ClinVar |
PMID:10229196 PMID:10486318 PMID:10864200 PMID:11782540 PMID:12826609 PMID:16818505 PMID:17308077 PMID:17311302 PMID:17606709 PMID:18511570 PMID:18685109 PMID:20127978 PMID:20407015 PMID:20455025 PMID:20522432 PMID:21343334 PMID:21464421 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21665242 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23175693 PMID:23246812 PMID:23639312 PMID:23894400 PMID:24033266 PMID:24590827 PMID:24651012 PMID:24764719 PMID:25326637 PMID:25584008 PMID:25741868 PMID:25773284 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26681682 PMID:27276561 PMID:27328919 PMID:27463065 PMID:27501770 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28472496 PMID:28492532 PMID:29979965 PMID:30092803 PMID:30224644 PMID:30327374 PMID:31081129 PMID:31105275 PMID:32427313 PMID:33300245 PMID:33372952 PMID:34540492 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
mRNA and protein: increased expression::poor prognosis for high expression |
RGD |
PMID:15867218 |
RGD:7242847 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Men1 |
menin 1 |
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ISO |
DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17961653 PMID:15944766 |
RGD:2317354 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
severity |
ISO |
associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) |
RGD |
PMID:12114431 |
RGD:2317605 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:hypomethylation:promoter (human) |
RGD |
PMID:17278096 |
RGD:2317340 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Slc2a2 |
solute carrier family 2 member 2 |
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ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12114701 PMID:8421107 |
RGD:2324976, RGD:2324977 |
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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G |
Atm |
ATM serine/threonine kinase |
disease_progression |
ISO |
associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) |
RGD |
PMID:22485171 |
RGD:150340716 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atrx |
ATRX, chromatin remodeler |
severity |
ISO |
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RGD |
PMID:26026117 |
RGD:127285385 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Cd53 |
Cd53 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657
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G |
Cd86 |
CD86 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Ciita |
class II, major histocompatibility complex, transactivator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
severity |
ISO |
protein:increased expression:colon (human) |
RGD |
PMID:26259237 |
RGD:11530617 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Daxx |
death-domain associated protein |
severity |
ISO |
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RGD |
PMID:26026117 |
RGD:127285385 |
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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G |
Eomes |
eomesodermin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 8:118,181,340...118,189,186
Ensembl chr 8:118,181,777...118,188,316
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G |
Gata3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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G |
Il10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il2rb |
interleukin 2 receptor subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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G |
Notch2 |
notch receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Pou2f2 |
POU class 2 homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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G |
Runx3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Btc |
betacellulin |
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ISO |
protein:increased expression:pancreas |
RGD |
PMID:10724350 |
RGD:2326087 |
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
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G |
Men1 |
menin 1 |
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ISO |
DNA:deletion:exon CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17961653 PMID:20138042 |
RGD:2317288 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Slc2a2 |
solute carrier family 2 member 2 |
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ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12114701 PMID:8421107 |
RGD:2324976, RGD:2324977 |
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
|
|
G |
Sstr4 |
somatostatin receptor 4 |
|
ISO |
|
RGD |
PMID:8132773 |
RGD:2324994 |
NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
|
|
|
G |
Agmat |
agmatinase |
|
ISO |
ClinVar Annotator: match by term: Hereditary pancreatitis |
ClinVar |
PMID:23721890 PMID:28492532 |
|
NCBI chr 5:154,043,665...154,074,278
Ensembl chr 5:154,060,151...154,074,276
|
|
G |
Casp9 |
caspase 9 |
|
ISO |
ClinVar Annotator: match by term: Hereditary pancreatitis |
ClinVar |
PMID:23721890 PMID:28492532 |
|
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
|
|
G |
Cela2a |
chymotrypsin like elastase 2A |
|
ISO |
ClinVar Annotator: match by term: Hereditary pancreatitis |
ClinVar |
PMID:23721890 PMID:28492532 |
|
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
|
|
G |
Cftr |
CF 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:7505767 PMID:7506096 PMID:7506605 PMID:7508183 PMID:7508414 PMID:7509310 PMID:7509564 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:7539342 PMID:7540133 PMID:7541274 PMID:7541510 PMID:7542347 PMID:7542778 PMID:7543317 PMID:7543385 PMID:7544319 PMID:7544320 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:8213163 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:9822639 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:10982968 PMID:11001817 PMID:11005149 PMID:11025834 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11137998 PMID:11158459 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:12215837 PMID:12357328 PMID:12397022 PMID:12400067 PMID:12414835 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12521276 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12658038 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12820707 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:15880796 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:16202790 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:17407489 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:18467194 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:19707853 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:22395041 PMID:22423042 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:22874010 PMID:22892530 PMID:22942289 PMID:22950544 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23027855 PMID:23055971 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23089694 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:23758905 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: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:26826884 PMID:26846474 PMID:26847993 PMID:26856987 PMID:26856995 PMID:26864378 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:27209008 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27324553 PMID:27334259 PMID:27347467 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