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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pancreas disease
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Accession:DOID:26 term browser browse the term
Definition:An endocrine system disease that is located_in the pancreas. (DO)
Synonyms:exact_synonym: pancreatic disease;   pancreatic diseases
 primary_id: MESH:D010182
 xref: ICD10CM:K86.8;   ICD10CM:K86.89;   ICD9CM:577.8
For additional species annotation, visit the Alliance of Genome Resources.


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pancreas disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036142 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17169978 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Pancreatic disease ClinVar PMID:1710599 PMID:7739684 PMID:9797105 PMID:9921909 PMID:10950058 PMID:14872121 PMID:15463907 PMID:16741161 PMID:16915933 PMID:18306312 PMID:20977904 PMID:21131649 PMID:22427236 PMID:22995991 PMID:23420618 PMID:23751316 PMID:23781395 PMID:23974870 PMID:24033266 PMID:24451227 PMID:25033378 PMID:25492507 PMID:25569187 PMID:25741868 PMID:25797027 PMID:25826586 PMID:26014425 PMID:26089335 PMID:26100556 PMID:26335950 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26856995 PMID:27555793 PMID:28469871 PMID:28492532 PMID:28603918 PMID:29174009 PMID:29589582 PMID:30763667 PMID:30979466 PMID:31378749 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:increased expression:plasma (rat) RGD PMID:3892654 RGD:2312553 NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18784349 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnf1b HNF1 homeobox B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human) RGD PMID:15068978 RGD:2312751 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
JBrowse link
G Il6 interleukin 6 ISO insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) RGD PMID:18772604 RGD:2307287 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3519326 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Msln mesothelin ISO protein:increased expression:serum RGD PMID:19843662 RGD:2326052 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20495387 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:605911
OMIM
ClinVar
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 PMID:12072887 PMID:12647205 PMID:16199547 PMID:17576681 PMID:20346956 PMID:23751782 PMID:25511235 PMID:25741868 PMID:28492532 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctf1 cardiotrophin 1 ISS MouseDO NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Gucy2c guanylate cyclase 2C ISS MouseDO NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G Lep leptin ISS MouseDO NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISS MouseDO NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prkci protein kinase C, iota ISS MouseDO NCBI chr 2:115,941,998...116,002,550
Ensembl chr 2:115,941,993...116,002,561
JBrowse link
G Sirt3 sirtuin 3 ISS MouseDO NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISS MouseDO NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IDA protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:30172001 RGD:13792561 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Lep leptin ISS OMIM:605552 MouseDO NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lpl lipoprotein lipase treatment IDA RGD PMID:26996629 RGD:13794382 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome, protection against ClinVar
OMIM
PMID:16721486 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 5:24,402,895...24,419,651
Ensembl chr 5:24,410,863...24,416,888
JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar Annotator: match by OMIM:615812
OMIM
ClinVar
PMID:24827035 PMID:25741868 NCBI chr 1:85,112,819...85,120,840
Ensembl chr 1:85,112,247...85,120,839
JBrowse link
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
Acute Necrotizing Pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 IDA RGD PMID:15702783 RGD:2325308 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Arg1 arginase 1 IDA RGD PMID:20697209 RGD:4142795 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:pancreas RGD PMID:21926933 RGD:6483068 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 IEP mRNA:increased expression:pancreas RGD PMID:12604914 RGD:2293139 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Btg2 BTG anti-proliferation factor 2 IEP mRNA:increased expression:liver, kidney, pancreas RGD PMID:9712737 RGD:2289078 NCBI chr13:50,913,185...50,916,944
Ensembl chr13:50,913,180...50,916,982
JBrowse link
G C5 complement C5 ISO RGD PMID:11292607 RGD:5130168 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G C5ar1 complement C5a receptor 1 ISO RGD PMID:11292607 RGD:5130168 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Calca calcitonin-related polypeptide alpha resistance IDA RGD PMID:19684430 RGD:5684345 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:18288275 RGD:2293324 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd46 CD46 molecule severity IEP RGD PMID:16425382 RGD:1600479 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd59 CD59 molecule severity IEP protein:decreased expression:pancreas, acinar cell RGD PMID:16425382 RGD:1600479 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:pancreas (rat) RGD PMID:17723883 RGD:2315517 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:pancreatic acinar cell RGD PMID:19818401 RGD:5135004 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 severity IEP RGD PMID:18642776 RGD:2307010 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:pancreas, lung (rat) RGD PMID:20950211 RGD:4145335 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:pancreas, serum (rat) RGD PMID:22990529 RGD:9068935 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:peritoneal macrophages (rat) RGD PMID:22964727 RGD:7204517 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein RGD PMID:7736749 RGD:8551826 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 treatment IDA
IEP
protein:increased expression:plasma (rat) RGD PMID:11780340, PMID:19050604 RGD:11062058, RGD:11062108 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:12612911 RGD:727512 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA:increased expression:pancreas (rat) RGD PMID:11590325 RGD:7207204 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP RGD PMID:19174608 RGD:10414072 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nos1 nitric oxide synthase 1 treatment IDA RGD PMID:23300603 RGD:7257665 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased enzyme activity:pancreas RGD PMID:15257108 RGD:2325241 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 IEP protein:increased expression:epithelial cell of pancreas (rat) RGD PMID:12210084 RGD:2311232 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25035110 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:pancreas RGD PMID:18241655 RGD:2298789 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Selp selectin P IMP RGD PMID:19451746 RGD:2312307 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf2 serpin family F member 2 IDA protein:increased expression:plasma RGD PMID:10423332 RGD:1625538 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Serping1 serpin family G member 1 IEP protein:decreased expression:plasma RGD PMID:10360224 RGD:8661651 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Tacr1 tachykinin receptor 1 IEP mRNA,protein:increased expression:lung RGD PMID:12857498 RGD:5147821 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
G Tbxas1 thromboxane A synthase 1 IDA RGD PMID:9700944 RGD:1601470 NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:liver RGD PMID:16524509 RGD:2312724 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA:increased expression:liver RGD PMID:16524509 RGD:2312724 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 IEP mRNA, protein:increased expression:pancreas (rat) RGD PMID:18376319 RGD:5130184 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
acute pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP-ribosylation factor 1 treatment ISO RGD PMID:22570480 RGD:9684857 NCBI chr10:45,562,700...45,579,214
Ensembl chr10:45,563,547...45,579,029
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 IEP mRNA,protein:increased expression:pancreas RGD PMID:19726343 RGD:9586043 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO protein:increased expression:pancreatic acinar cell: RGD PMID:19585519 RGD:9491843 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 treatment IMP RGD PMID:22213034 RGD:9491790 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:serum (human, mouse) RGD PMID:27923687 RGD:14398732 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:17506000 RGD:11049543 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Irf9 interferon regulatory factor 9 IEP mRNA,protein:increased expression:kidney RGD PMID:32462510 RGD:125093744 NCBI chr15:34,282,936...34,288,981
Ensembl chr15:34,282,936...34,288,138
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IEP mRNA,protein:decreased expression:jejunum RGD PMID:23599644 RGD:12910752 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Lep leptin IEP associated with fatty liver disease; protein:increased expression:serum: RGD PMID:26634430 RGD:11552763 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Mir155 microRNA 155 severity ISO RGD PMID:29937734, PMID:30497068 RGD:21403683, RGD:21408596 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mtnr1b melatonin receptor 1B IMP RGD PMID:12510864 RGD:9588676 NCBI chr 8:14,359,270...14,373,894
Ensembl chr 8:14,359,270...14,373,894
JBrowse link
G Reg3a regenerating islet-derived 3 alpha severity IMP RGD PMID:19129610 RGD:9850139 NCBI chr 4:109,477,893...109,480,659
Ensembl chr 4:109,477,920...109,480,659
JBrowse link
G Reg3b regenerating family member 3 beta severity IMP RGD PMID:18437087 RGD:9831433 NCBI chr 4:109,467,272...109,470,510
Ensembl chr 4:109,467,272...109,470,510
JBrowse link
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 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:liver: RGD PMID:18436016 RGD:14697701 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868 PMID:30576320 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2830787 PMID:11290323 PMID:12651888 PMID:15476446 PMID:16390921 PMID:17652218 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
JBrowse link
Adult Pancreatic Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203118 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
alcoholic pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO DNA:missense mutations: :p.L1156F, Q1352H (human) RGD PMID:26089335 RGD:11566036 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22280800 NCBI chr 4:181,663,425...181,674,181 JBrowse link
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 9:95,233,957...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
annular pancreas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf1 growth differentiation factor 1 ISS OMIM:167750 MouseDO NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Ihh Indian hedgehog signaling molecule ISS OMIM:167750 MouseDO NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
autoimmune pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) RGD PMID:18155707 RGD:5147621 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
Calcific Pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reg1a regenerating family member 1 alpha ISO protein:decreased expression:pancreatic juice (human) RGD PMID:3147713 RGD:9850117 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA
ClinVar Annotator: match by term: Carnitine Palmitoyltransferase IA Deficiency
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar Annotator: match by OMIM:255120
OMIM
ClinVar
PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 PMID:11441142 PMID:12111367 PMID:12189492 PMID:12351641 PMID:14517221 PMID:15110323 PMID:16146704 PMID:16169268 PMID:16958601 PMID:17576681 PMID:19181627 PMID:19217814 PMID:20301700 PMID:20696606 PMID:21253826 PMID:21763168 PMID:21962599 PMID:23090344 PMID:23700290 PMID:24033266 PMID:24847810 PMID:25449608 PMID:25741868 PMID:26010953 PMID:26820065 PMID:27066452 PMID:27341449 PMID:28125087 PMID:28468868 PMID:28492532 PMID:30101502 PMID:31319225 PMID:32088118 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
ClinVar Annotator: match by OMIM:600649
OMIM
ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10873395 PMID:11855939 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:16225172 PMID:16615913 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20543534 PMID:20661589 PMID:20810031 PMID:20934285 PMID:20952238 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22841441 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:26636822 PMID:27067077 PMID:27123472 PMID:27629963 PMID:27974123 PMID:28074886 PMID:28492532 PMID:28516040 PMID:28779239 PMID:29478820 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30609409 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
Chronic Pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:decreased expression:blood plasma (human) RGD PMID:11555832 RGD:5685680 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Bad BCL2-associated agonist of cell death severity IEP RGD PMID:22549003 RGD:10053701 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
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 chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
JBrowse link
G Cel carboxyl ester lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774637 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206817 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IDA RGD PMID:21926544 RGD:8552779 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cpa1 carboxypeptidase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955596 NCBI chr 4:57,952,982...57,959,109
Ensembl chr 4:57,952,982...57,959,109
JBrowse link
G Ctrc chymotrypsin C ISO ClinVar Annotator: match by term: PANCREATITIS, CHRONIC
ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to
ClinVar Annotator: match by term: Chronic pancreatitis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18059268 PMID:18172691 PMID:19453252 PMID:22427236 PMID:22942235 PMID:25569187 PMID:25741868 PMID:28492532 NCBI chr 5:160,394,677...160,403,373
Ensembl chr 5:160,394,580...160,405,050
JBrowse link
G Cygb cytoglobin IEP RGD PMID:14647402 RGD:9685173 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA,protein:increased expression:pancreas RGD PMID:17114010 RGD:6482236 NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
JBrowse link
G Ifng interferon gamma disease_progression IEP RGD PMID:11345142 RGD:10755767 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:pancreas RGD PMID:17114010 RGD:6482236 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Ngf nerve growth factor IEP protein:increased expression:pancreas RGD PMID:16098667 RGD:5144071 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:pancreas (human) RGD PMID:12741461 RGD:5508378 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Prss1 serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18206817 NCBI chr 4:70,776,046...70,779,249
Ensembl chr 4:70,776,046...70,779,249
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25035110 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Reg1a regenerating family member 1 alpha IEP protein:increased expression:pancreas, acinar cell, zymogen granule (rat) RGD PMID:12764608 RGD:9831428 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
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 4:109,467,272...109,470,510
Ensembl chr 4:109,467,272...109,470,510
JBrowse link
G Rnf2 ring finger protein 2 ISO protein:increased expression:pancreas RGD PMID:19585519 RGD:9491843 NCBI chr13:68,829,714...68,859,920
Ensembl chr13:68,830,620...68,858,809
JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to
ClinVar Annotator: match by term: Chronic pancreatitis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10691414 PMID:10835640 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:25010710 PMID:25206283 PMID:25741868 PMID:26632706 PMID:27535533 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793, PMID:10835640 RGD:1599102 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
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 Annotator: match by OMIM:256450
ClinVar Annotator: match by term: familial hyperinsulinism
ClinVar Annotator: match by term: Congenital Hyperinsulinism
ClinVar
CTD
PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10194514 PMID:10334322 PMID:10338089 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15356046 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16595597 PMID:16860127 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17668386 PMID:17823772 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18758683 PMID:18767144 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:20427569 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20943781 PMID:21378087 PMID:21716120 PMID:21835061 PMID:21851374 PMID:21992908 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22802590 PMID:22855730 PMID:22992668 PMID:23067144 PMID:23261959 PMID:23275527 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23771172 PMID:24145932 PMID:24401662 PMID:24442125 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24937539 PMID:25115353 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25741868 PMID:25781672 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:27175728 PMID:27188453 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27908292 PMID:28442472 PMID:28492532 PMID:29681852 PMID:30352420 PMID:30386300 PMID:30462810 PMID:32027066 PMID:33046911, PMID:7716548, PMID:23506826, PMID:23652837, PMID:20573158, PMID:16429405, PMID:24401662, PMID:21422196, PMID:18596924 RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO RGD PMID:9571255 RGD:1302513 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar PMID:10227563 PMID:10768098 PMID:10983627 PMID:15281001 PMID:15793260 PMID:15928245 PMID:16883527 PMID:16946562 PMID:18414213 PMID:21105491 PMID:22140441 PMID:22232426 PMID:23227446 PMID:23247789 PMID:24033266 PMID:24097065 PMID:25041077 PMID:25631608 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26740944 PMID:27080136 PMID:27420379 PMID:28492532 PMID:30191603, PMID:20164212 RGD:12904701 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:deletion, insertion:exon
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD
ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852, PMID:23506826, PMID:23652837, PMID:24401662, PMID:17316607, PMID:24421282 RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
cystic fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:20203292 RGD:5129107 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms (human) RGD PMID:20203292, PMID:17502834 RGD:5129107, RGD:4145099 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO protein:increased expression:bronchus RGD PMID:20203292 RGD:5129107 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO mRNA,protein:decreased expression:intestine: RGD PMID:21970994 RGD:14349050 NCBI chr 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16622660 RGD:6483578 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G C5 complement C5 severity ISO RGD PMID:3540828 RGD:5130162 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:increased expression:paranasal sinus RGD PMID:17999785 RGD:4145455 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA, protein:increased expression:neutrophil RGD PMID:18026571 RGD:4145491 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20438838 RGD:4143275 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:20575639, PMID:19386685 RGD:5130907, RGD:5130902 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
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 chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:blood RGD PMID:15102009 RGD:7248443 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cftr CF transmembrane conductance regulator severity
no_association
disease_progression
ISO
IMP
DNA:missense mutation:exon:p.W1282X(human)
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar Annotator: match by term: Mucoviscidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis
ClinVar Annotator: match by OMIM:219700
ClinVar Annotator: match by null
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
CTD
OMIM
PMID:754013 PMID:1282900 PMID:1283148 PMID:1283149 PMID:1284466 PMID:1284468 PMID:1284477 PMID:1284478 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:1373934 PMID:1373935 PMID:1374052 PMID:1376016 PMID:1376017 PMID:1377276 PMID:1379210 PMID:1379211 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:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1715308 PMID:1718974 PMID:1721624 PMID:1722350 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 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 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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: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: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:15246977 PMID:15284228 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357566 PMID:15365999 PMID:15367919 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15371908 PMID:15390350 PMID:15463840 PMID:15463866 PMID:15463882 PMID:15463898 PMID:15463906 PMID:15463907 PMID:15463919 PMID:15480987 PMID:15482777 PMID:15486385 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PMID:16463024 PMID:16478680 PMID:16481891 PMID:16484308 PMID:16488363 PMID:16493442 PMID:16572913 PMID:16596947 PMID:16617247 PMID:16635477 PMID:16678503 PMID:16714368 PMID:16741161 PMID:16763370 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16786510 PMID:16801189 PMID:16822950 PMID:16837565 PMID:16840743 PMID:16915933 PMID:16931591 PMID:16938751 PMID:16963320 PMID:16980811 PMID:16989640 PMID:17003641 PMID:17015492 PMID:17020467 PMID:17020473 PMID:17035430 PMID:17062471 PMID:17095337 PMID:17098482 PMID:17098864 PMID:17137500 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17235394 PMID:17244607 PMID:17272608 PMID:17290305 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17353351 PMID:17378246 PMID:17380060 PMID:17398169 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 PMID:17560176 PMID:17572159 PMID:17576681 PMID:17580535 PMID:17594397 PMID:17594398 PMID:17617039 PMID:17662673 PMID:17663888 PMID:17673962 PMID:17678620 PMID:17681820 PMID:17692578 PMID:17716958 PMID:17718859 PMID:17719933 PMID:17825628 PMID:17850636 PMID:17890437 PMID:17901983 PMID:17949679 PMID:17968991 PMID:17968998 PMID:17975025 PMID:17981921 PMID:18178635 PMID:18195584 PMID:18230692 PMID:18234567 PMID:18279436 PMID:18301294 PMID:18304229 PMID:18305154 PMID:18306312 PMID:18344710 PMID:18350634 PMID:18373402 PMID:18421494 PMID:18449561 PMID:18455968 PMID:18456578 PMID:18467194 PMID:18493878 PMID:18497194 PMID:18500736 PMID:18501000 PMID:18507830 PMID:18556774 PMID:18567645 PMID:18597042 PMID:18676185 PMID:18683213 PMID:18685558 PMID:18687795 PMID:18703181 PMID:18703788 PMID:18716917 PMID:18722008 PMID:18769034 PMID:18782298 PMID:18796364 PMID:18832460 PMID:18937943 PMID:18951463 PMID:18955805 PMID:19014821 PMID:19017867 PMID:19019741 PMID:19019984 PMID:19092437 PMID:19092444 PMID:19166122 PMID:19181743 PMID:19181854 PMID:19202204 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PMID:22591852 PMID:22608296 PMID:22612315 PMID:22627569 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22680785 PMID:22724884 PMID:22768251 PMID:22842702 PMID:22859523 PMID:22874010 PMID:22892530 PMID:22942289 PMID:22950544 PMID:22973227 PMID:22975760 PMID:22981120 PMID:22981294 PMID:22992393 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23017188 PMID:23027855 PMID:23055971 PMID:23065710 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23083715 PMID:23089694 PMID:23104983 PMID:23168765 PMID:23206872 PMID:23217326 PMID:23276700 PMID:23302613 PMID:23313410 PMID:23343000 PMID:23349053 PMID:23361109 PMID:23378595 PMID:23378603 PMID:23381846 PMID:23405520 PMID:23420618 PMID:23430892 PMID:23466340 PMID:23470247 PMID:23483918 PMID:23503723 PMID:23514810 PMID:23523379 PMID:23554779 PMID:23555973 PMID:23587593 PMID:23590265 PMID:23613805 PMID:23666117 PMID:23670503 PMID:23687349 PMID:23712087 PMID:23716676 PMID:23721890 PMID:23727931 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23758905 PMID:23765052 PMID:23775370 PMID:23781395 PMID:23810505 PMID:23837941 PMID:23846440 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23924900 PMID:23933162 PMID:23951356 PMID:23953609 PMID:23955087 PMID:23974870 PMID:24019231 PMID:24022636 PMID:24033266 PMID:24058550 PMID:24066763 PMID:24081349 PMID:24082139 PMID:24106596 PMID:24129438 PMID:24204751 PMID:24225052 PMID:24243928 PMID:24269240 PMID:24272871 PMID:24375076 PMID:24388274 PMID:24418186 PMID:24419263 PMID:24433235 PMID:24434749 PMID:24440181 PMID:24440239 PMID:24451227 PMID:24461666 PMID:24517344 PMID:24525081 PMID:24551851 PMID:24556927 PMID:24559724 PMID:24561283 PMID:24586523 PMID:24631642 PMID:24633926 PMID:24649380 PMID:24696795 PMID:24697796 PMID:24727426 PMID:24762087 PMID:24784896 PMID:24813944 PMID:24816901 PMID:24836205 PMID:24958810 PMID:24973281 PMID:25016221 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25087612 PMID:25093022 PMID:25097766 PMID:25122143 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25192979 PMID:25203624 PMID:25251442 PMID:25266159 PMID:25266997 PMID:25274949 PMID:25277268 PMID:25287046 PMID:25304080 PMID:25308578 PMID:25311995 PMID:25326635 PMID:25346962 PMID:25383785 PMID:25404111 PMID:25443471 PMID:25452595 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25525159 PMID:25556971 PMID:25569187 PMID:25569440 PMID:25580864 PMID:25583415 PMID:25636364 PMID:25640679 PMID:25651269 PMID:25658530 PMID:25667564 PMID:25674778 PMID:25682022 PMID:25688174 PMID:25697318 PMID:25698453 PMID:25704068 PMID:25735457 PMID:25739099 PMID:25741868 PMID:25741869 PMID:25754095 PMID:25755212 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824381 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25887396 PMID:25892339 PMID:25898554 PMID:25900089 PMID:25905921 PMID:25910067 PMID:25922769 PMID:25956447 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26003067 PMID:26014425 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26089335 PMID:26095523 PMID:26096753 PMID:26098992 PMID:26100556 PMID:26135562 PMID:26146130 PMID:26160248 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26293390 PMID:26324139 PMID:26334177 PMID:26335950 PMID:26348465 PMID:26354092 PMID:26358851 PMID:26364555 PMID:26385858 PMID:26399542 PMID:26429520 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26493493 PMID:26494713 PMID:26496611 PMID:26500004 PMID:26526220 PMID:26538069 PMID:26540286 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26651825 PMID:26656651 PMID:26671754 PMID:26684250 PMID:26708955 PMID:26730394 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:26948992 PMID:26968770 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27026144 PMID:27049043 PMID:27081564 PMID:27086061 PMID:27131402 PMID:27143075 PMID:27145507 PMID:27158673 PMID:27160424 PMID:27171515 PMID:27175795 PMID:27195969 PMID:27209008 PMID:27214033 PMID:27214204 PMID:27222777 PMID:27261451 PMID:27264265 PMID:27298017 PMID:27311679 PMID:27324553 PMID:27334259 PMID:27364092 PMID:27449771 PMID:27469177 PMID:27518913 PMID:27533158 PMID:27535533 PMID:27555793 PMID:27578509 PMID:27625827 PMID:27659740 PMID:27706244 PMID:27707539 PMID:27717243 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27787503 PMID:27805836 PMID:27812499 PMID:27870577 PMID:27898234 PMID:27917292 PMID:28027573 PMID:28040058 PMID:28116329 PMID:28129809 PMID:28129813 PMID:28174639 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28242630 PMID:28325531 PMID:28332257 PMID:28348582 PMID:28371569 PMID:28408918 PMID:28419121 PMID:28440306 PMID:28456595 PMID:28465863 PMID:28469871 PMID:28475858 PMID:28492532 PMID:28502372 PMID:28536625 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28651844 PMID:28655774 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28805948 PMID:28830496 PMID:28863137 PMID:28947035 PMID:28957316 PMID:28978796 PMID:28992757 PMID:29035608 PMID:29099333 PMID:29126871 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29202459 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29279204 PMID:29307731 PMID:29327948 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29497617 PMID:29504914 PMID:29520692 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29669919 PMID:29685811 PMID:29779145 PMID:29782810 PMID:29805046 PMID:29807875 PMID:29859674 PMID:29879995 PMID:29936070 PMID:29944384 PMID:29951967 PMID:29997923 PMID:30046002 PMID:30081288 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30296588 PMID:30366773 PMID:30374031 PMID:30419605 PMID:30444886 PMID:30450785 PMID:30488522 PMID:30509709 PMID:30540547 PMID:30548586 PMID:30558651 PMID:30561903 PMID:30595473 PMID:30600261 PMID:30609409 PMID:30617673 PMID:30698611 PMID:30726326 PMID:30758641 PMID:30763667 PMID:30805437 PMID:30805499 PMID:30811104 PMID:30845638 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30979466 PMID:30992994 PMID:30996306 PMID:31005549 PMID:31036917 PMID:31088717 PMID:31126253 PMID:31136843 PMID:31213628 PMID:31245908 PMID:31251792 PMID:31310009 PMID:31311920 PMID:31328366 PMID:31331863 PMID:31357024 PMID:31378749 PMID:31423445 PMID:31523618 PMID:31561038 PMID:31589614 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31697873 PMID:31709488 PMID:31759907 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31872980 PMID:31882543 PMID:31883651 PMID:31916691 PMID:31940241 PMID:31978131 PMID:32003480 PMID:32025909 PMID:32084388 PMID:32150665 PMID:32172930 PMID:32185651 PMID:32352720 PMID:32357917 PMID:32429104 PMID:32512765 PMID:32773111 PMID:32777524 PMID:32819855 PMID:32934006 PMID:33020115 PMID:33322690 PMID:33374015 PMID:33572515 PMID:63921865 PMID:238191399, PMID:1370365, 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 RGD:4140436, 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 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Clca1 chloride channel accessory 1 ISO mRNA, protein:increased expression:respiratory system mucosa RGD PMID:15218996 RGD:4145657 NCBI chr 2:250,897,980...250,923,711
Ensembl chr 2:250,897,969...250,923,744
JBrowse link
G Clcn2 chloride voltage-gated channel 2 IDA RGD PMID:8811102 RGD:704390 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19293384 RGD:5133738 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum
RGD PMID:20818377, PMID:20818377 RGD:5135034, RGD:5135034 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum
RGD PMID:20818377, PMID:20818377 RGD:5135034, RGD:5135034 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO RGD PMID:19597126 RGD:5135456 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO RGD PMID:19597126 RGD:5135456 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:20818377 RGD:5135034 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
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:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 severity ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dctn4 dynactin subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772370 NCBI chr18:55,797,188...55,824,195
Ensembl chr18:55,797,198...55,822,036
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9843998 RGD:4892267 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:sputum (human) RGD PMID:10445603 RGD:4145062 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Eng endoglin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30806029 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:7516776 PMID:7892276 PMID:9288046 PMID:11283205 PMID:11406608 PMID:12704386 PMID:15692831 PMID:17532303 PMID:19017876 PMID:19620853 PMID:22188362 PMID:22992668 PMID:23252947 PMID:23426996 PMID:26314341 PMID:26555147 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Fas Fas cell surface death receptor severity ISO RGD PMID:18685642 RGD:12903971 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO RGD PMID:10567629 RGD:12904024 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis OMIM
ClinVar
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:18347005 PMID:19915573 PMID:19965803 PMID:21109570 PMID:22992668 PMID:24033266 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO RGD PMID:16690975 RGD:5134682 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:15115915 RGD:5135040 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:15115915 RGD:5135040 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21263071 RGD:5135530 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Hfe homeostatic iron regulator severity ISO DNA:missense mutations: :p.H63D, p.C282Y (human)
ClinVar Annotator: match by term: Mucoviscidosis
ClinVar 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:15858186 PMID:16132052 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:20301613 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26365338 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526, PMID:30291871 RGD:14701045 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:protein:increased expression:lung RGD PMID:15184199 RGD:4145410 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
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 chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:respiratory tract epithelium (rat) RGD PMID:22461702 RGD:12904899 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:15310308 RGD:12743589 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:bronchoalveolar lavage fluid RGD PMID:15463872 RGD:4312589 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum
protein:increased expression:lung
RGD PMID:19342416, PMID:21109552 RGD:4889105, RGD:4889130 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
JBrowse link
G Il1a interleukin 1 alpha severity ISO protein:increased expression:serum RGD PMID:8333775 RGD:4142849 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:sputum
protein:decreased expression:blood, neutrophil
RGD PMID:10515411, PMID:12547728 RGD:4143181, RGD:4143175 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:blood
protein:increased expression:lung
RGD PMID:16403491, PMID:20438838 RGD:5128672, RGD:4143275 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il9 interleukin 9 ISO protein:increased expression:respiratory system mucosa RGD PMID:12782818 RGD:5128699 NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
JBrowse link
G Il9r interleukin 9 receptor ISO protein:increased expression:respiratory system mucosa RGD PMID:12782818 RGD:5128699 NCBI chr10:15,697,216...15,708,684
Ensembl chr10:15,696,824...15,710,423
JBrowse link
G Irf1 interferon regulatory factor 1 ISO protein:decreased expression:intestine epithelium, nasal cavity epithelium RGD PMID:10930443 RGD:5128720 NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
JBrowse link
G Lep leptin severity ISO RGD PMID:18353734 RGD:5128819 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G LOC299277 similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B severity ISO RGD PMID:11120905 RGD:5147439 NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
JBrowse link
G Lta lymphotoxin alpha severity ISO DNA:polymorphism, haplotype: :252A>G (human) RGD PMID:21993476 RGD:6767553 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
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 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:16879250, PMID:10449435 RGD:4889443, RGD:4889447 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mif macrophage migration inhibitory factor severity ISO DNA:repeats:promoter RGD PMID:16179637 RGD:4891053 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:27689251 RGD:25671378 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase severity ISO DNA:polymorphism:promoter:-463G>A (human) RGD PMID:20954832, PMID:16883063 RGD:5130986, RGD:5130968 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Muc1 mucin 1, cell surface associated IEP protein:increased expression:serum RGD PMID:19960788 RGD:5131272 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:increased expression:nasal mucosa RGD PMID:9155717 RGD:5131426 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:17255563 RGD:5131191 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO protein:altered glycosylation:saliva RGD PMID:17255563, PMID:11845304 RGD:5131191, RGD:5131194 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO RGD PMID:20309575 RGD:7364748 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO protein:increased oxidation:colonic epithelium, mitochondrion (mouse) RGD PMID:21518732 RGD:6484688 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
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 chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA,protein:decreased expression:respiratory mucosa RGD PMID:16517573 RGD:4891958 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:polymorphism:exon: c. 894G>T (human) RGD PMID:12406848 RGD:4892049 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
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 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Prss1 serine protease 1 IEP protein:increased expression:plasma RGD PMID:8625754 RGD:1599967 NCBI chr 4:70,776,046...70,779,249
Ensembl chr 4:70,776,046...70,779,249
JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO RGD PMID:18334635 RGD:5135022 NCBI chr 1:226,976,455...226,995,641
Ensembl chr 1:226,993,250...226,994,849
JBrowse link
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptx3 pentraxin 3 susceptibility ISO DNA:SNP:exon:rs35948036(human) RGD PMID:20927127 RGD:35673347 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO mRNA:decreased expression::decreased clearance of pathogens? RGD PMID:20044437 RGD:5144066 NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077107 PMID:19462466 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207733 PMID:16463024 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16463024 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:301355 PMID:1082356 PMID:1889260 PMID:2567291 PMID:6093867 PMID:6602622 PMID:8970361 PMID:10194472 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16608528 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:25741868 PMID:26141072 PMID:26672964 PMID:26831755 PMID:27465791 PMID:28492532 PMID:30585791 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N severity ISO RGD PMID:11120905 RGD:5147439 NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:15271694 RGD:4143403 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B ISO mRNA:increased expression:respiratory system mucosa RGD PMID:17507829 RGD:4143381 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Sftpc surfactant protein C ISO protein:increased expression:lung RGD PMID:15271694 RGD:4143403 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression, altered degradation:lung RGD PMID:18211966 RGD:4143502 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:lung
ClinVar Annotator: match by OMIM:219700
ClinVar
OMIM
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868, PMID:19830844 RGD:4145125 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:25545245 RGD:13204794 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:monocyte RGD PMID:20717938, PMID:20522639 RGD:4144105, RGD:4144179 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
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 chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:20837493 RGD:5130208 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16463024 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a9 solute carrier family 26 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr13:48,512,415...48,539,467
Ensembl chr13:48,513,008...48,539,467
JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr  X:120,624,522...120,647,964
Ensembl chr  X:120,624,518...120,649,111
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
exocrine pancreatic insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela3b chymotrypsin like elastase 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14687815 NCBI chr 5:155,763,877...155,772,048
Ensembl chr 5:155,763,877...155,772,040
JBrowse link
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 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29384525 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275 PMID:25741868, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
JBrowse link
Experimental Pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed treatment IMP RGD PMID:18486906 RGD:10450567 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO RGD PMID:19664632, PMID:19664632 RGD:10401870, RGD:10401870 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:19195057 RGD:12791282 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Reg3b regenerating family member 3 beta IEP protein:increased expression:pancreatic juice (rat) RGD PMID:7809015 RGD:9999210 NCBI chr 4:109,467,272...109,470,510
Ensembl chr 4:109,467,272...109,470,510
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment IMP RGD PMID:11341608 RGD:11059600 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
Experimental Pancreatitis, Acute term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment IEP RGD PMID:18416460 RGD:13782074 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Bcl2l1 Bcl2-like 1 IEP protein:increased expression:pancreas, mitochondrion (rat) RGD PMID:19331832 RGD:11353791 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Becn1 beclin 1 treatment ISO RGD PMID:22850625 RGD:11560530 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP RGD PMID:10451498 RGD:10043817 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Ednra endothelin receptor type A treatment IMP RGD PMID:12799311 RGD:1581841 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:Kupffer cell: RGD PMID:15797225, PMID:15797225 RGD:14700708, RGD:14700708 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand severity ISO protein:increased expression:Kupffer cell: RGD PMID:15797225, PMID:15797225 RGD:14700708, RGD:14700708 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Gss glutathione synthetase IEP RGD PMID:17897920 RGD:11353819 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Hmgb1 high mobility group box 1 treatment IMP RGD PMID:23706497 RGD:10402063 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP protein:increased expression:neutrophil: RGD PMID:26464680 RGD:11354914 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment IEP
IMP
RGD PMID:23706497, PMID:10201790 RGD:10402063, RGD:11520782 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:25323753 RGD:11049477 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24876883 RGD:10402805 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Jak1 Janus kinase 1 treatment IEP RGD PMID:21369693 RGD:19165136 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link
G Kmo kynurenine 3-monooxygenase disease_progression ISO
IMP
RGD PMID:26752518, PMID:28398044 RGD:11342439, RGD:13703053 NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227
JBrowse link
G Kras KRAS proto-oncogene, GTPase IEP RGD PMID:8913708 RGD:11062095 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO protein:decreased expression:pancreas RGD PMID:22850625 RGD:11560530 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment ISO RGD PMID:22850625 RGD:11560530 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29937734, PMID:30497068 RGD:21403683, RGD:21408596 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:16127429 RGD:11075069 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19680809 RGD:11100040 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Procr protein C receptor treatment IEP
IDA
protein:increased expression:blood RGD PMID:25688263, PMID:24749346 RGD:13515127, RGD:13515128 NCBI chr 3:151,285,321...151,289,581
Ensembl chr 3:151,285,249...151,289,595
JBrowse link
G Ptafr platelet-activating factor receptor treatment IDA RGD PMID:21633536 RGD:9999225 NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
JBrowse link
G 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 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
G Reg3b regenerating family member 3 beta IEP protein:increased expression:serum (rat) RGD PMID:11066135 RGD:9831384 NCBI chr 4:109,467,272...109,470,510
Ensembl chr 4:109,467,272...109,470,510
JBrowse link
G Serpinc1 serpin family C member 1 treatment ISO RGD PMID:19546838 RGD:11035262 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 treatment IDA RGD PMID:15765407 RGD:10043090 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
JBrowse link
G Tnf tumor necrosis factor IEP associated with Anemia, Hemolytic RGD PMID:12845374, PMID:15164724 RGD:10449461, RGD:1580295 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP protein:increased expression:serum RGD PMID:15164724 RGD:1580295 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B IEP protein:increased expression:serum RGD PMID:15164724 RGD:1580295 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vwf von Willebrand factor IEP protein:increased expression:plasma: RGD PMID:17708840 RGD:11079229 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Experimental Pancreatitis, Chronic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase IEP protein:increased expression:arcuate nucleus (rat) RGD PMID:27778022 RGD:38456012 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Gli1 GLI family zinc finger 1 IEP RGD PMID:24782623 RGD:12879405 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22173919 RGD:10044253 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP RGD PMID:22359633 RGD:11035224 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Ptch1 patched 1 IEP RGD PMID:24782623 RGD:12879405 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Smo smoothened, frizzled class receptor IEP RGD PMID:24782623 RGD:12879405 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
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 chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP RGD PMID:26645248 RGD:14995470 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar
PMID:1021286 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9382893 PMID:9519757 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:10685980 PMID:10720932 PMID:10923633 PMID:10993895 PMID:11018078 PMID:11226335 PMID:11272143 PMID:11395395 PMID:11457841 PMID:11697420 PMID:11867634 PMID:11999683 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:15561897 PMID:15562009 PMID:15579781 PMID:15807877 PMID:15842514 PMID:16186397 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16860127 PMID:16969006 PMID:17236890 PMID:17378627 PMID:17384337 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17668386 PMID:17919176 PMID:17990484 PMID:18025408 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18390792 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18988933 PMID:19151370 PMID:19475716 PMID:20042013 PMID:20427569 PMID:20432820 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21214702 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21544516 PMID:21617188 PMID:21674179 PMID:21716120 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21992908 PMID:22210575 PMID:22308858 PMID:22562119 PMID:22662265 PMID:22704848 PMID:22796691 PMID:22802590 PMID:22855730 PMID:22876564 PMID:22902787 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23771920 PMID:23798684 PMID:23903354 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24080777 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24411943 PMID:24434300 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26545876 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27573238 PMID:27682711 PMID:27691052 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:28018462 PMID:28095440 PMID:28270372 PMID:28346775 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28701683 PMID:29207974 PMID:29216354 PMID:29644095 PMID:30186238 PMID:30297969 PMID:30352420 PMID:30386300 PMID:30447144 PMID:30462810 PMID:31604004 PMID:32027066 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 ClinVar PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 OMIM
ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3
ClinVar Annotator: match by OMIM:602485
OMIM
ClinVar
PMID:7555485 PMID:8068341 PMID:8349034 PMID:8433729 PMID:8454109 PMID:9435328 PMID:9469993 PMID:10447526 PMID:11315850 PMID:11315851 PMID:11916951 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:15277402 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16963153 PMID:16965331 PMID:17573900 PMID:18271687 PMID:19790256 PMID:20132997 PMID:21604084 PMID:22493702 PMID:22611063 PMID:24097065 PMID:24518839 PMID:24728127 PMID:25015100 PMID:25741868 PMID:25850297 PMID:26467025 PMID:27913849 PMID:28492532 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by OMIM:609975
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar
OMIM
PMID:904979 PMID:11489939 PMID:14693719 PMID:19318379 PMID:21252247 PMID:22662265 PMID:23273570 PMID:25741868 PMID:27104957 PMID:28492532 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5
ClinVar Annotator: match by OMIM:609968
OMIM
ClinVar
PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
ClinVar Annotator: match by OMIM:606762
OMIM
ClinVar
PMID:9469993 PMID:9571255 PMID:9843361 PMID:10636977 PMID:10871207 PMID:11214910 PMID:18414213 PMID:18928469 PMID:19046187 PMID:23869231 PMID:25008049 PMID:25741868 PMID:26467025 PMID:26759084 PMID:27188453 PMID:28165182 PMID:28492532 PMID:30306091 PMID:30352420 PMID:30425915 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
JBrowse link
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Exercise-induced hyperinsulinism
ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia
ClinVar Annotator: match by OMIM:610021
OMIM
ClinVar
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 PMID:25741868 PMID:25741869 PMID:26595136 PMID:28492532 NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
JBrowse link
Familial Pancreatic Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO mRNA:increased expression:pancreas, carcinoma (human) RGD PMID:16815451 RGD:5685662 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1r insulin-like growth factor 1 receptor ISO mRNA and protein: increased expression::poor prognosis for high expression RGD PMID:15867218 RGD:7242847 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Men1 menin 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:17961653, PMID:15944766 RGD:2317354 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701, PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
Gastro-Enteropancreatic Neuroendocrine Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd53 Cd53 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:209,489,279...209,537,098
Ensembl chr 2:209,489,279...209,537,087
JBrowse link
G Cd86 CD86 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 8:127,144,367...127,152,618
Ensembl chr 8:127,144,903...127,151,493
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:81,966,791...82,049,116
Ensembl chr 1:81,964,104...82,004,538
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
Glucagonoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
JBrowse link
G Men1 menin 1 ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD PMID:17961653, PMID:20138042 RGD:2317288 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701, PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Sstr4 somatostatin receptor 4 ISO RGD PMID:8132773 RGD:2324994 NCBI chr 3:142,739,781...142,741,644
Ensembl chr 3:142,739,781...142,741,644
JBrowse link
Hereditary Pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agmat agmatinase ISO ClinVar Annotator: match by term: Hereditary pancreatitis ClinVar PMID:23721890 PMID:28492532 NCBI chr 5:160,306,754...160,321,951
Ensembl chr 5:160,306,727...160,321,066
JBrowse link
G Casp9 caspase 9 ISO ClinVar Annotator: match by term: Hereditary pancreatitis ClinVar PMID:23721890 PMID:28492532 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Hereditary pancreatitis ClinVar PMID:23721890 PMID:28492532 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
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 OMIM:167800
OMIM
ClinVar
PMID:1283148 PMID:1284534 PMID:1284538 PMID:1370365 PMID:1370875 PMID:1376017 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1381146 PMID:1382316 PMID:1384321 PMID:1536179 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1712898 PMID:1721624 PMID:1756602 PMID:1937486 PMID:1977306 PMID:1997384 PMID:1999830 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2300168 PMID:2349952 PMID:2378364 PMID:2395135 PMID:2397487 PMID:2475911 PMID:2570460 PMID:5371902 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7506096 PMID:7513889 PMID:7515303 PMID:7520798 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7529962 PMID:7532150 PMID:7534040 PMID:7536669 PMID:7537148 PMID:7542778 PMID:7544319 PMID:7544788 PMID:7545869 PMID:7573058 PMID:7599637 PMID:7680769 PMID:7683628 PMID:7684641 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7739684 PMID:8343799 PMID:8421472 PMID:8477260 PMID:8528204 PMID:8605891 PMID:8662892 PMID:8698344 PMID:8702904 PMID:8825494 PMID:8825927 PMID:8863168 PMID:9003498 PMID:9056552 PMID:9067754 PMID:9135274 PMID:9164051 PMID:9239681 PMID:9259194 PMID:9259197 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9435322 PMID:9439669 PMID:9521595 PMID:9550361 PMID:9557894 PMID:9620832 PMID:9683582 PMID:9725922 PMID:9736778 PMID:9797105 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10103316 PMID:10200050 PMID:10341008 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10445602 PMID:10556281 PMID:10601093 PMID:10653141 PMID:10762539 PMID:10782933 PMID:10798368 PMID:10801389 PMID:10869121 PMID:10875853 PMID:10909845 PMID:10923036 PMID:10950058 PMID:10970190 PMID:11005149 PMID:11168024 PMID:11242048 PMID:11280952 PMID:11354633 PMID:11388756 PMID:11448786 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11883825 PMID:12007216 PMID:12014388 PMID:12120234 PMID:12127423 PMID:12172395 PMID:12200467 PMID:12439892 PMID:12452372 PMID:12503104 PMID:12719375 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12843327 PMID:14526128 PMID:14685937 PMID:14872121 PMID:14963811 PMID:14998948 PMID:15070876 PMID:15097853 PMID:15141088 PMID:15151509 PMID:15246977 PMID:15287992 PMID:15354332 PMID:15367919 PMID:15371902 PMID:15371903 PMID:15463907 PMID:15480987 PMID:15520400 PMID:15638824 PMID:15776432 PMID:15857421 PMID:15858154 PMID:15948195 PMID:15987793 PMID:15994263 PMID:16049310 PMID:16128988 PMID:16189704 PMID:16339147 PMID:16741161 PMID:16915933 PMID:16963320 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17098482 PMID:17206681 PMID:17272608 PMID:17329263 PMID:17331079 PMID:17353351 PMID:17380060 PMID:17481968 PMID:17489851 PMID:17572159 PMID:17594397 PMID:17662673 PMID:17681820 PMID:17692578 PMID:17975025 PMID:18178635 PMID:18234567 PMID:18306312 PMID:18373402 PMID:18421494 PMID:18456578 PMID:18501000 PMID:18507830 PMID:18556774 PMID:18687795 PMID:18703181 PMID:18716917 PMID:18722008 PMID:18951463 PMID:19014821 PMID:19017867 PMID:19092437 PMID:19202204 PMID:19227414 PMID:19318035 PMID:19734299 PMID:19812525 PMID:19837664 PMID:19846789 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19925455 PMID:20021716 PMID:20059485 PMID:20167849 PMID:20381036 PMID:20460946 PMID:20538955 PMID:20580320 PMID:20595578 PMID:20622033 PMID:20628052 PMID:20667826 PMID:20687163 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20722470 PMID:20837875 PMID:20846557 PMID:20880762 PMID:20949073 PMID:20977904 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21228398 PMID:21233271 PMID:21411740 PMID:21416780 PMID:21486785 PMID:21507732 PMID:21520337 PMID:21594800 PMID:21602569 PMID:21658649 PMID:21804385 PMID:21825083 PMID:21907281 PMID:21965669 PMID:21976485 PMID:21983488 PMID:22020151 PMID:22047557 PMID:22148899 PMID:22293084 PMID:22318583 PMID:22332135 PMID:22369017 PMID:22383668 PMID:22427236 PMID:22449949 PMID:22483971 PMID:22569626 PMID:22572128 PMID:22591852 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22680785 PMID:22768251 PMID:22892530 PMID:22942289 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23067305 PMID:23076339 PMID:23104983 PMID:23206872 PMID:23313410 PMID:23378603 PMID:23381846 PMID:23420618 PMID:23466340 PMID:23514810 PMID:23523379 PMID:23590265 PMID:23613805 PMID:23670503 PMID:23687349 PMID:23721890 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23781395 PMID:23857699 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24066763 PMID:24204751 PMID:24375076 PMID:24440181 PMID:24440239 PMID:24451227 PMID:24461666 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24836205 PMID:24973281 PMID:25033378 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25087612 PMID:25122143 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25266159 PMID:25287046 PMID:25304080 PMID:25311995 PMID:25383785 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25569187 PMID:25651269 PMID:25682022 PMID:25698453 PMID:25704068 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25755212 PMID:25797027 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25910067 PMID:25981758 PMID:26014425 PMID:26070913 PMID:26087176 PMID:26089335 PMID:26095523 PMID:26100556 PMID:26135562 PMID:26199320 PMID:26277102 PMID:26324139 PMID:26335950 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26474553 PMID:26500004 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26648081 PMID:26708955 PMID:26823392 PMID:26846474 PMID:26856995 PMID:26911355 PMID:26968770 PMID:26976279 PMID:26990548 PMID:27158673 PMID:27214033 PMID:27214204 PMID:27298017 PMID:27334259 PMID:27364092 PMID:27469177 PMID:27555793 PMID:27707539 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27787503 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28194692 PMID:28325531 PMID:28408918 PMID:28419121 PMID:28469871 PMID:28492532 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28611235 PMID:28651844 PMID:28711222 PMID:28801929 PMID:28830496 PMID:29099333 PMID:29126871 PMID:29168366 PMID:29174009 PMID:29327948 PMID:29451946 PMID:29504914 PMID:29589582 PMID:29590070 PMID:29669919 PMID:29779145 PMID:29805046 PMID:29997923 PMID:30230364 PMID:30540547 PMID:30698611 PMID:30763667 PMID:30845638 PMID:30873022 PMID:30979466 PMID:31213628 PMID:31378749 PMID:31759907 PMID:31788424 PMID:31883651 PMID:31978131 PMID:32150665 PMID:32357917 PMID:32777524 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Ctrc chymotrypsin C ISO ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar Annotator: match by OMIM:167800
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18059268 PMID:18172691 PMID:19453252 PMID:20625975 PMID:21631589 PMID:22427236 PMID:22580415 PMID:22942235 PMID:23430245 PMID:23721890 PMID:23951356 PMID:25251442 PMID:25569187 PMID:25741868 PMID:26013824 PMID:26022124 PMID:26100556 PMID:27264265 PMID:27409067 PMID:28166811 PMID:28492532 PMID:28497564 PMID:29669919 PMID:30420730 NCBI chr 5:160,394,677...160,403,373
Ensembl chr 5:160,394,580...160,405,050
JBrowse link
G Ddi2 DNA damage inducible 1 homolog 2 ISO ClinVar Annotator: match by term: Hereditary pancreatitis ClinVar PMID:23721890 PMID:28492532 NCBI chr 5:160,230,958...160,282,836
Ensembl chr 5:160,230,955...160,282,810
JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary pancreatitis ClinVar PMID:23721890 PMID:28492532 NCBI chr 5:160,325,088...160,352,874
Ensembl chr 5:160,325,107...160,352,927
JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Hereditary pancreatitis ClinVar PMID:23721890 PMID:28492532 NCBI chr 5:160,182,556...160,219,770
Ensembl chr 5:160,182,251...160,219,812
JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Hereditary chronic pancreatitis
ClinVar Annotator: match by term: Hereditary pancreatitis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6023921 PMID:8841182 PMID:9322498 PMID:9536098 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10381903 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10930381 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11260229 PMID:11312265 PMID:11702203 PMID:11708864 PMID:11719509 PMID:11734061 PMID:11748242 PMID:11788572 PMID:11842279 PMID:11866271 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12413370 PMID:12508340 PMID:12765848 PMID:12853682 PMID:14526128 PMID:14695529 PMID:15017610 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16036133 PMID:16505482 PMID:16632094 PMID:16791840 PMID:16954950 PMID:17003641 PMID:17072318 PMID:17204147 PMID:17568390 PMID:17576681 PMID:18063422 PMID:18184119 PMID:18272034 PMID:18286680 PMID:18461367 PMID:18511571 PMID:18580441 PMID:18755888 PMID:19191323 PMID:19433603 PMID:19453252 PMID:19454815 PMID:19584086 PMID:19857283 PMID:19951905 PMID:20001681 PMID:20452997 PMID:20502448 PMID:20950468 PMID:21415673 PMID:21907651 PMID:22094894 PMID:22379635 PMID:22539344 PMID:22749696 PMID:23143602 PMID:23455445 PMID:23601753 PMID:23686146 PMID:23751316 PMID:23951356 PMID:24002981 PMID:24033266 PMID:24413785 PMID:24458023 PMID:24780743 PMID:24909264 PMID:25383785 PMID:25479140 PMID:25543846 PMID:25546417 PMID:25741868 PMID:26182300 PMID:26376395 PMID:26658045 PMID:27179762 PMID:27264265 PMID:27409067 PMID:27578509 PMID:28166811 PMID:28492532 PMID:28502372 PMID:28536777 PMID:28650851 PMID:29173301 PMID:29215622 PMID:29555771 PMID:29915322 PMID:30018304 PMID:30113427 PMID:30420730 NCBI chr 4:70,776,046...70,779,249
Ensembl chr 4:70,776,046...70,779,249
JBrowse link
G Slc25a34 solute carrier family 25, member 34 ISO ClinVar Annotator: match by term: Hereditary pancreatitis ClinVar PMID:23721890 PMID:28492532 NCBI chr 5:160,175,206...160,179,978
Ensembl chr 5:160,176,124...160,179,978
JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Hereditary pancreatitis
ClinVar Annotator: match by OMIM:167800
OMIM
ClinVar
PMID:120111 PMID:10691414 PMID:10835640 PMID:11265669 PMID:11355022 PMID:11368029 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12651880 PMID:12658397 PMID:12743777 PMID:12825076 PMID:12853682 PMID:14526128 PMID:14722925 PMID:15800694 PMID:15980664 PMID:16823394 PMID:16849362 PMID:16885867 PMID:17003641 PMID:17048046 PMID:17204147 PMID:17274009 PMID:17466744 PMID:17525091 PMID:17568390 PMID:17681820 PMID:18172691 PMID:18182741 PMID:18206809 PMID:18206817 PMID:18286680 PMID:18414673 PMID:18570327 PMID:18580441 PMID:18617776 PMID:18978175 PMID:19299380 PMID:19372376 PMID:19453252 PMID:19565042 PMID:19888199 PMID:20510827 PMID:21303407 PMID:21375584 PMID:21610753 PMID:21952138 PMID:22094894 PMID:22228370 PMID:22343980 PMID:22343981 PMID:22427236 PMID:22526274 PMID:22572128 PMID:22577471 PMID:22749696 PMID:22995991 PMID:23017645 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24052272 PMID:24522117 PMID:24795752 PMID:24844923 PMID:25010710 PMID:25206283 PMID:25383785 PMID:25741868 PMID:25792561 PMID:26228362 PMID:26348468 PMID:26632706 PMID:27171515 PMID:27535533 PMID:28166811 PMID:28320769 PMID:28440306 PMID:28492532 PMID:28502372 PMID:28536777 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28687971 PMID:28984793 PMID:28994706 PMID:30420730 PMID:31391146 PMID:31628023 PMID:33097431 PMID:33515547 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
JBrowse link
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISS
ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
MouseDO
ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISS OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
ClinVar PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 PMID:10338089 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15115830 PMID:15504982 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:15998776 PMID:16416420 PMID:16455067 PMID:16595597 PMID:16670688 PMID:17257281 PMID:17316607 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18596924 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20424228 PMID:20589481 PMID:20685672 PMID:21115269 PMID:21119644 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22385882 PMID:22471336 PMID:22512215 PMID:22704848 PMID:22958899 PMID:22992668 PMID:23275527 PMID:23345197 PMID:24434300 PMID:24442125 PMID:24698822 PMID:25115353 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26467025 PMID:26545876 PMID:26740944 PMID:28492532 PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 susceptibility ISO ClinVar Annotator: match by term: Hereditary hyperinsulinism
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
ClinVar PMID:7716548 PMID:8923011 PMID:9075812 PMID:9519757 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10204114 PMID:10338089 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11457841 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15842514 PMID:15855351 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16595597 PMID:16860127 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17668386 PMID:17823772 PMID:18025408 PMID:18339976 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:20427569 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943781 PMID:21378087 PMID:21422196 PMID:21716120 PMID:21851374 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22385882 PMID:22562119 PMID:22704848 PMID:22802590 PMID:22902787 PMID:22992668 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23771920 PMID:24332968 PMID:24401662 PMID:24442125 PMID:24616771 PMID:24686051 PMID:24768178 PMID:24959012 PMID:25115353 PMID:25306193 PMID:25525159 PMID:25741868 PMID:25765446 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26221353 PMID:26379717 PMID:26467025 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27754802 PMID:28095440 PMID:28492532 PMID:28701683 PMID:29207974 PMID:29644095 PMID:29681852 PMID:30297969 PMID:30352420 PMID:30386300 PMID:30447144 PMID:31604004, PMID:16416420, PMID:12199344 RGD:1625279, RGD:1598639 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP RGD PMID:16414018 RGD:1599145 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor1 adiponectin receptor 1 IEP mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 IEP mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adm adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480, PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Agt angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP RGD PMID:16565309 RGD:1642975 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP
ISO
mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:29035695, PMID:17180354 RGD:8549642 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Ddc dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancc FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Foxa2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chr 3:142,383,084...142,387,493
Ensembl chr 3:142,383,278...142,387,481
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar PMID:9435328 RGD:1601294 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 IEP mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9571255 PMID:25741868 PMID:26467025, PMID:10636977, PMID:20670938 RGD:1601353, RGD:6484656 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668 PMID:18560803 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
ClinVar Annotator: match by term: Hyperinsulinemia
ClinVar PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 PMID:16883527 PMID:16917892 PMID:16946562 PMID:17573900 PMID:18811724 PMID:20164212 PMID:22662265 PMID:22802087 PMID:24033266 PMID:24285859 PMID:25741868 PMID:25819479 PMID:26467025 PMID:27245055 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28844315 PMID:29998026 PMID:30005691 PMID:31529154 PMID:31529156, PMID:17407387 RGD:12904698 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hp haptoglobin ISO protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) RGD PMID:19375766 RGD:2307250 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2991050 PMID:3511099 PMID:4019786 PMID:6382002, PMID:9667398 RGD:1625121 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.P1195L (mouse)
CTD PMID:10949030 PMID:18411068, PMID:10949030, PMID:21549686 RGD:1302523, RGD:10403034 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
protein:substitution: :p.H259R (human)
ClinVar PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24068186 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29681852, PMID:16416420, PMID:15998776 RGD:1625279, RGD:1625277 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Lep leptin ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:9826672, PMID:22948215 RGD:12904911 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lepr leptin receptor ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:3519326 PMID:15093691 PMID:22949526 PMID:24384915 PMID:25222487 PMID:29988851 PMID:30689673, PMID:26537785 RGD:12911216 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G Lipc lipase C, hepatic type IDA
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD PMID:7047662, PMID:1592086, PMID:11095452 RGD:2308800, RGD:2308794, RGD:2308844 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G LOC100909544 bromodomain-containing protein 2-like ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:3,910,555...3,918,348
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Lta lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr10:10,832,573...10,881,999
Ensembl chr10:10,833,519...10,881,977
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
JBrowse link
G Mttp microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npy5r neuropeptide Y receptor Y5 IDA RGD PMID:15187000 RGD:1625494 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:missense mutation:cds:p.L262V (human) RGD PMID:15729572, PMID:19185381 RGD:12880443, RGD:12880445 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 IEP associated with Obesity;protein:increased expression:liver RGD PMID:9705027 RGD:2302681 NCBI chr  X:23,092,143...23,145,923
Ensembl chr  X:23,092,159...23,144,324
JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Prkcd protein kinase C, delta IEP RGD PMID:8826977 RGD:1625605 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Prkcq protein kinase C, theta IEP associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Pten phosphatase and tensin homolog IEP protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO mouse model overexpressing human transgene RGD PMID:11309481 RGD:1642735 NCBI chr 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Scd stearoyl-CoA desaturase IEP associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
JBrowse link
G Slc27a1 solute carrier family 27 member 1 IEP protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:111,884,285...111,944,693
Ensembl chr  X:111,884,295...111,887,906
JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link
hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 IMP RGD PMID:18776135 RGD:2301896 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) RGD PMID:18328310 RGD:2313551 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:12606499 RGD:704397 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 PMID:8182131 PMID:8211187 PMID:8734807 PMID:9332655 PMID:10612834 PMID:10834516 PMID:10874313 PMID:11310582 PMID:11739393 PMID:12093795 PMID:12373566 PMID:15316959 PMID:18008183 PMID:20301489 PMID:21599942 PMID:23312056 PMID:24033266 PMID:24082139 PMID:24385852 PMID:25308557 PMID:25333069 PMID:25741868 PMID:28397058 PMID:28492532 PMID:32313153 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A RGD PMID:10636977 RGD:1601353 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:18268044, PMID:17407387 RGD:2301837, RGD:12904698 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835 PMID:1324617 PMID:1646414 PMID:1890151 PMID:2554359 PMID:20620209 PMID:22940631 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase IEP associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) RGD PMID:9814479 RGD:1601469 NCBI chr 4:41,171,486...41,212,116
Ensembl chr 4:41,171,486...41,212,072
JBrowse link
G Prl prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Th tyrosine hydroxylase IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
hypoinsulinemic hypoglycemia with hemihypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO OMIM NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset ClinVar
OMIM
PMID:25558065 PMID:25574476 PMID:25741868 PMID:27129381 PMID:28328138 PMID:31057140 PMID:33092935 NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159
JBrowse link
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha IDA RGD PMID:16485039 RGD:1625727 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acacb acetyl-CoA carboxylase beta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:22658938, PMID:16485039 RGD:1625727 NCBI chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
JBrowse link
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP
ISO
CTD Direct Evidence: therapeutic
associated with Hypertension
CTD PMID:18931039 PMID:21484566, PMID:16041833, PMID:23089228, PMID:21872431 RGD:1599150, RGD:8695951, RGD:8695928 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor1 adiponectin receptor 1 resistance ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP RGD PMID:30225267, PMID:24797033 RGD:21406435, RGD:25824940 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adora1 adenosine A1 receptor treatment ISO
IDA
associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:2313807, RGD:1625243 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480, PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO
IDA
DNA:polymorphism: :p.R16G
CTD Direct Evidence: marker/mechanism
CTD PMID:19034036, PMID:15699455, PMID:11510954 RGD:1601125, RGD:1598757 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Adrb3 adrenoceptor beta 3 no_association ISO DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD PMID:10421225, PMID:10582543, PMID:17299491 RGD:1559326, RGD:5684421, RGD:2313158 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Ahsg alpha-2-HS-glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:17011519, PMID:17011519, PMID:16567827 RGD:1625793, RGD:1625793, RGD:1625794 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Akt2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member treatment IEP protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Apln apelin IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Apoa2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoc1 apolipoprotein C1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility
treatment
ISO
IEP
RGD PMID:15734841, PMID:15007394 RGD:1601226, RGD:1580750 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism
associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD PMID:21444647, PMID:17332526, PMID:16793958 RGD:1601244, RGD:2306773 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arg1 arginase 1 IEP protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Atm ATM serine/threonine kinase treatment IEP
ISO
protein:decreased expression:muscle:
Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)
RGD PMID:18534819, PMID:23171036 RGD:8693659, RGD:126781688 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Bad BCL2-associated agonist of cell death IDA protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP
IEP
RGD PMID:17618300, PMID:17988733 RGD:5129217, RGD:5129214 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin