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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.


show annotations for term's descendants           Sort by:
 
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:10950058, PMID:15463907, PMID:16741161, PMID:16915933, 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:27555793, PMID:28492532, PMID:28603918 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:9727719, PMID:11228257, PMID:11479731, PMID:12072887, PMID:12647205, 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
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 OMIM:615812 OMIM
ClinVar
PMID:24827035 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 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 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 Lmna lamin A/C ISO ClinVar Annotator: match by term: Acute pancreatitis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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: Carnitine palmitoyl transferase 1A deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency
ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar Annotator: match by OMIM:255120
OMIM
ClinVar
PMID:9048718, 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: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:16225172, PMID:16615913, PMID:16781677, 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:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:26467025, PMID:26636822, PMID:27123472, PMID:27629963, PMID:27974123, PMID:28074886, PMID:28492532, PMID:28516040, PMID:28779239, PMID:30094188 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
ClinVar Annotator: match by term: Chronic pancreatitis
CTD
ClinVar
PMID:1370875, PMID:1377276, PMID:1380673, PMID:1381146, PMID:1384321, PMID:1536179, PMID:1673094, PMID:1756602, PMID:1997384, PMID:2210767, PMID:2220803, PMID:2233932, PMID:2236053, PMID:2300168, PMID:2378364, PMID:2475911, PMID:2570460, PMID:7537148, PMID:9135274, PMID:9439669, PMID:10782933, PMID:11280952, PMID:11737931, PMID:12833420, PMID:12940920, PMID:14685937, PMID:15141088, PMID:15221447, PMID:15246977, PMID:15367919, PMID:15371902, PMID:15482777, PMID:15619636, PMID:17206681, PMID:17692578, PMID:18206817, PMID:18463704, PMID:18507830, PMID:18639722, PMID:19846789, PMID:20595578, PMID:20705837, PMID:20949073, PMID:21152102, PMID:21602569, PMID:21658649, PMID:21825083, PMID:21976485, PMID:22293084, PMID:22383668, PMID:22942289, PMID:22981120, PMID:22992668, PMID:23457292, PMID:23891399, PMID:23951356, PMID:23974870, PMID:24033266, PMID:24559724, PMID:24973281, PMID:25148434, PMID:25741868, PMID:25741869, PMID:25981758, PMID:26467025, PMID:26618866, PMID:26631874, PMID:26968770, PMID:27214033, PMID:27298017, PMID:27334259, PMID:27805836, PMID:27898234, PMID:28129809, PMID:28129811, PMID:28325531, PMID:28492532, PMID:28603918, PMID:28606620, PMID:29099333, PMID:29126871, PMID:29327948, PMID:29451946, PMID:30311386 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:22427236, PMID:22749696, PMID:23017645, PMID:23741238, PMID:23951356, PMID:24033266, PMID:24522117, PMID:25206283, PMID:25741868, PMID:26632706, PMID:27535533, PMID:28492532, PMID:28546062, PMID:28556356, PMID:28609377, PMID:28984793, PMID:30311386, 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:8923011, PMID:9618169, PMID:9648840, PMID:9867219, PMID:10334322, PMID:10338089, PMID:10447255, PMID:10487673, 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: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: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:26467025, PMID:27175728, PMID:27188453, PMID:27573238, PMID:27682711, PMID:27754802, PMID:27810688, PMID:28442472, PMID:28492532, PMID:29681852, PMID:30352420, PMID:30462810, 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:23247789, PMID:24033266, PMID:24097065, PMID:25041077, PMID:25631608, PMID:25741868, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:27080136, PMID:27420379, PMID:28492532, 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
ClinVar Annotator: match by term: Nonclassic cystic fibrosis
ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis
ClinVar Annotator: match by OMIM:219700
CTD Direct Evidence: marker/mechanism
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: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, PMID:2233932, PMID:2233965, PMID:2236053, PMID:2267887, PMID:2300168, PMID:2344617, PMID:2349952, PMID:2378364, PMID:2395135, PMID:2397487, PMID:2475911, PMID:2565038, PMID:2570460, PMID:2915972, PMID:5371902, PMID:6963320, PMID:7472820, PMID:7475569, PMID:7477025, PMID:7493947, PMID:7504969, PMID:7504970, PMID:7505689, PMID:7505690, PMID:7505693, PMID:7505694, PMID:7506096, PMID:7506605, PMID:7508183, PMID:7508414, PMID:7509231, PMID:7509310, PMID:7509683, PMID:7509684, PMID:7512860, PMID:7512993, PMID:7513292, PMID:7513293, PMID:7513294, PMID:7513889, PMID:7515303, PMID:7516232, PMID:7516234, PMID:7516305, PMID:7517264, PMID:7517268, PMID:7518409, PMID:7518829, PMID:7520022, PMID:7520798, PMID:7520799, PMID:7521710, PMID:7521937, PMID:7522211, PMID:7522329, PMID:7524909, PMID:7524910, PMID:7524913, PMID:7525450, PMID:7525963, PMID:7526685, PMID:7526927, PMID:7526929, PMID:7527269, PMID:7529319, PMID:7529962, PMID:7530553, PMID:7532150, PMID:7534040, PMID:7534226, PMID:7534748, PMID:7535742, PMID:7536669, PMID:7537147, PMID:7537148, PMID:7537150, PMID:7538127, PMID:7539080, PMID:7539342, PMID:7540587, PMID:7541274, PMID:7541510, PMID:7542778, PMID:7543317, PMID:7543385, PMID:7543567, PMID:7544319, PMID:7544320, PMID:7544788, PMID:7545856, PMID:7545869, PMID:7550227, PMID:7550243, PMID:7551394, PMID:7560099, PMID:7573058, PMID:7581390, PMID:7581407, PMID:7599637, PMID:7606851, PMID:7668304, PMID:7680378, PMID:7680525, PMID:7680769, PMID:7681034, PMID:7682196, PMID:7682884, PMID:7682896, PMID:7682984, PMID:7683628, PMID:7683952, PMID:7683954, PMID:7684641, PMID:7684644, PMID:7684646, PMID:7686336, PMID:7686423, PMID:7686577, PMID:7686820, PMID:7689008, PMID:7689009, PMID:7689013, PMID:7689898, PMID:7689902, PMID:7691344, PMID:7691345, PMID:7691352, PMID:7691356, PMID:7692051, PMID:7693946, PMID:7739684, PMID:7757078, PMID:7868128, PMID:8081395, PMID:8097485, PMID:8100293, PMID:8213163, PMID:8262525, PMID:8343799, PMID:8406518, PMID:8421472, PMID:8477260, PMID:8528204, PMID:8530001, PMID:8533846, PMID:8535440, PMID:8556303, PMID:8563237, PMID:8605891, PMID:8627844, PMID:8644755, PMID:8659542, PMID:8662892, PMID:8663008, PMID:8680406, PMID:8680407, PMID:8698344, PMID:8702904, PMID:8707304, PMID:8707306, PMID:8723693, PMID:8723694, PMID:8741733, PMID:8818956, PMID:8825494, PMID:8825927, PMID:8829633, PMID:8829643, PMID:8834261, PMID:8844213, PMID:8863168, PMID:8865181, PMID:8889582, PMID:8910333, PMID:8947061, PMID:8956039, PMID:8968585, PMID:8992448, PMID:9003498, PMID:9003508, PMID:9017943, PMID:9039981, PMID:9043501, PMID:9056552, PMID:9067754, PMID:9067761, PMID:9084934, PMID:9099843, PMID:9101293, PMID:9101301, PMID:9135274, PMID:9150159, PMID:9150843, PMID:9163660, PMID:9164051, PMID:9222768, PMID:9239681, PMID:9254864, PMID:9259194, PMID:9259197, PMID:9271620, PMID:9272157, PMID:9272738, PMID:9298826, PMID:9305991, PMID:9374552, PMID:9375855, PMID:9379898, PMID:9383031, PMID:9401006, PMID:9401110, PMID:9429141, PMID:9435322, PMID:9439669, PMID:9452112, PMID:9459003, PMID:9482579, PMID:9499426, PMID:9507391, PMID:9521595, PMID:9550361, PMID:9550362, PMID:9554753, PMID:9557894, PMID:9618063, PMID:9620832, PMID:9630075, PMID:9678705, PMID:9683582, PMID:9725922, PMID:9736775, PMID:9736778, PMID:9788722, PMID:9797105, PMID:9804160, PMID:9806422, PMID:9822639, PMID:9842999, PMID:9849891, PMID:9853928, PMID:9881185, PMID:9915972, PMID:9917439, PMID:9920885, PMID:9921909, PMID:9950364, PMID:9950763, PMID:10026154, PMID:10077727, PMID:10094564, PMID:10103316, PMID:10200050, PMID:10204861, PMID:10206682, PMID:10225950, PMID:10341008, PMID:10362539, PMID:10376575, PMID:10386624, PMID:10388469, PMID:10401194, PMID:10425036, PMID:10425081, PMID:10439967, PMID:10445602, PMID:10447267, PMID:10453741, PMID:10462611, PMID:10480369, PMID:10515411, PMID:10517260, PMID:10556281, PMID:10562297, PMID:10562541, PMID:10571949, PMID:10571955, PMID:10601093, PMID:10605524, PMID:10612827, PMID:10612849, PMID:10636451, PMID:10651488, PMID:10652351, PMID:10653140, PMID:10653141, PMID:10653145, PMID:10668931, PMID:10671057, PMID:10719683, PMID:10746558, PMID:10755189, PMID:10762539, PMID:10764788, PMID:10777364, PMID:10782933, PMID:10790220, PMID:10790222, PMID:10794365, PMID:10798353, PMID:10798368, PMID:10801389, PMID:10812063, PMID:10834512, PMID:10852925, PMID:10862786, PMID:10869121, PMID:10875853, PMID:10875876, PMID:10909845, PMID:10913957, PMID:10922395, PMID:10922396, PMID:10923036, PMID:10925568, PMID:10950058, PMID:10970190, PMID:10980579, PMID:10982968, PMID:10993719, PMID:11001817, PMID:11005149, PMID:11022925, PMID:11025834, PMID:11055897, PMID:11069835, PMID:11101688, PMID:11102992, PMID:11118444, PMID:11119745, PMID:11137998, PMID:11158459, PMID:11168023, PMID:11168024, PMID:11171377, PMID:11180668, PMID:11186891, PMID:11219165, PMID:11242048, PMID:11276378, PMID:11278813, PMID:11280952, PMID:11288708, PMID:11288718, PMID:11303517, PMID:11354633, PMID:11379874, PMID:11388756, PMID:11390899, PMID:11401894, PMID:11427889, PMID:11430710, PMID:11446424, PMID:11448786, PMID:11462247, PMID:11466205, PMID:11471192, PMID:11491164, PMID:11504857, PMID:11523757, PMID:11547256, PMID:11555145, PMID:11585852, PMID:11589722, PMID:11668613, PMID:11729110, PMID:11737931, PMID:11746017, PMID:11781704, PMID:11786964, PMID:11788090, PMID:11788091, PMID:11788611, PMID:11796430, PMID:11796591, PMID:11810271, PMID:11823443, PMID:11882668, PMID:11883825, PMID:11888281, PMID:11924117, PMID:11933191, PMID:11938353, PMID:11938439, PMID:11950844, PMID:12000363, PMID:12007216, PMID:12014388, PMID:12070257, PMID:12070264, PMID:12084728, PMID:12089190, PMID:12116247, PMID:12120234, PMID:12124743, PMID:12127423, PMID:12133923, PMID:12166651, PMID:12167682, PMID:12172395, PMID:12183675, PMID:12200467, PMID:12215837, PMID:12357328, PMID:12361483, PMID:12394343, PMID:12397022, PMID:12437773, PMID:12439892, PMID:12452372, PMID:12454843, PMID:12503104, PMID:12521276, PMID:12529365, PMID:12530290, PMID:12544470, PMID:12578973, PMID:12624947, PMID:12651858, PMID:12651880, PMID:12658038, PMID:12679372, PMID:12719375, PMID:12732620, PMID:12752573, PMID:12759680, PMID:12767731, PMID:12783301, PMID:12815607, PMID:12820707, PMID:12825076, PMID:12829453, PMID:12833420, PMID:12843327, PMID:12843337, PMID:12865275, PMID:12874665, PMID:12900515, PMID:12913074, PMID:12919146, PMID:12938099, PMID:12939655, PMID:12939925, PMID:12940920, PMID:12952861, PMID:12955726, PMID:14526128, PMID:14551163, PMID: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:15221447, 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, PMID:15502086, PMID:15504721, PMID:15507674, PMID:15509635, PMID:15520400, PMID:15536480, PMID:15537723, PMID:15591474, PMID:15614862, PMID:15619635, PMID:15619636, PMID:15638824, PMID:15645635, PMID:15666307, PMID:15681482, PMID:15698945, PMID:15698946, PMID:15705292, PMID:15716623, PMID:15727251, PMID:15738290, PMID:15744517, PMID:15744523, PMID:15744829, PMID:15758663, PMID:15772171, PMID:15776432, PMID:15784035, PMID:15829248, PMID:15841482, PMID:15853950, PMID:15857421, PMID:15858154, PMID:15880796, PMID:15905293, PMID:15948195, PMID:15952991, PMID:15987793, PMID:15994263, PMID:16020494, PMID:16049310, PMID:16051530, PMID:16126774, PMID:16128988, PMID:16132229, PMID:16134171, PMID:16137181, PMID:16141195, PMID:16187186, PMID:16189704, PMID:16193325, PMID:16196493, PMID:16202790, PMID:16240056, PMID:16244288, PMID:16251901, PMID:16263954, PMID:16272798, PMID:16283068, PMID:16339147, PMID:16362824, PMID:16379540, PMID:16417523, PMID:16423550, PMID:16429425, PMID:16435054, PMID:16436643, PMID:16436646, PMID:16442101, PMID:16443646, PMID:16454991, PMID:16463024, PMID:16478680, PMID:16481891, PMID:16484308, PMID:16488363, PMID:16493442, PMID: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: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:17580535, PMID:17594397, PMID:17594398, PMID:17662673, 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:18279436, PMID:18301294, PMID:18304229, PMID:18305154, PMID:18306312, PMID:18344710, PMID:18373402, PMID:18421494, PMID:18449561, PMID:18455968, PMID:18456578, PMID:18463704, PMID:18467194, PMID:18493878, PMID:18497194, PMID:18500736, PMID:18501000, PMID:18507830, PMID:18556774, PMID:18567645, PMID:18597042, PMID:18639722, 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, PMID:19236881, PMID:19265749, PMID:19309154, PMID:19318035, PMID:19318346, PMID:19324992, PMID:19359498, PMID:19369536, PMID:19372188, PMID:19381710, PMID:19383231, PMID:19406970, PMID:19445912, PMID:19447078, PMID:19457724, PMID:19491324, PMID:19540513, PMID:19587087, PMID:19625452, PMID:19645745, PMID:19652440, PMID:19707853, PMID:19710401, PMID:19715466, PMID:19724303, PMID:19734129, PMID:19734299, PMID:19759008, PMID:19763152, PMID:19774621, PMID:19810821, PMID:19812525, PMID:19833837, PMID:19843100, PMID:19845690, PMID:19846789, PMID:19880712, PMID:19883345, PMID:19885835, PMID:19893581, PMID:19897426, PMID:19910674, PMID:19914431, PMID:19914443, PMID:20021716, PMID:20031113, PMID:20052365, PMID:20052766, PMID:20059485, PMID:20100616, PMID:20110398, PMID:20144563, PMID:20163773, PMID:20167849, PMID:20190016, PMID:20217271, PMID:20233062, PMID:20301428, PMID:20307669, PMID:20351098, PMID:20351101, PMID:20381036, PMID:20416310, PMID:20435887, PMID:20448091, PMID:20460946, PMID:20460947, PMID:20510657, PMID:20522854, PMID:20538955, PMID:20551465, PMID:20558957, PMID:20560922, PMID:20562583, PMID:20571109, PMID:20595578, PMID:20616359, PMID:20622033, PMID:20639189, PMID:20651897, PMID:20657600, PMID:20659818, PMID:20691141, PMID:20705837, PMID:20706124, PMID:20714932, PMID:20717170, PMID:20722470, PMID:20797923, PMID:20837875, PMID:20846557, PMID:20849526, PMID:20865572, PMID:20875776, PMID:20879059, PMID:20880762, PMID:20920895, PMID:20932301, PMID:20932506, PMID:20949073, PMID:20952391, PMID:20972246, PMID:20976528, PMID:20977904, PMID:20981092, PMID:21068670, PMID:21083385, PMID:21097845, PMID:21131649, PMID:21152102, PMID:21184098, PMID:21198395, PMID:21228398, PMID:21233271, PMID:21254931, PMID:21303308, PMID:21317048, PMID:21388895, PMID:21416780, PMID:21429822, PMID:21455600, PMID:21474639, PMID:21483833, PMID:21499205, PMID:21507732, PMID:21514289, PMID:21520337, PMID:21521896, PMID:21538969, PMID:21602569, PMID:21636331, PMID:21642448, PMID:21658649, PMID:21679131, PMID:21708286, PMID:21716075, PMID:21779199, PMID:21783433, PMID:21796730, PMID:21804385, PMID:21811577, PMID:21825083, PMID:21837768, PMID:21858268, PMID:21909392, PMID:21917531, PMID:21931512, PMID:21948798, PMID:21976485, PMID:21983161, PMID:22020151, PMID:22043142, PMID:22047557, PMID:22094894, PMID:22119790, PMID:22137130, PMID:22138447, PMID:22138491, PMID:22148899, PMID:22156145, PMID:22160394, PMID:22194755, PMID:22210114, PMID:22271776, PMID:22274833, PMID:22293084, PMID:22299590, PMID:22318583, PMID:22324837, PMID:22326559, PMID:22362925, PMID:22383668, PMID:22395041, PMID:22406018, PMID:22423042, PMID:22427236, PMID:22438829, PMID:22439019, PMID:22442927, PMID:22468138, PMID:22483971, PMID:22490504, PMID:22504961, PMID:22572733, PMID:22591852, PMID:22608296, PMID:22612315, PMID:22627569, PMID:22658665, PMID:22664493, PMID:22678879, 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:23017188, PMID:23027855, PMID:23055971, PMID:23065710, PMID:23076339, PMID:23082198, PMID:23083715, PMID:23089694, PMID:23104983, PMID:23168765, 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:23457292, PMID:23466340, PMID:23470247, PMID:23483918, PMID:23503723, PMID:23514810, PMID:23523379, PMID:23555973, 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:24033266, PMID:24058550, PMID:24066763, PMID:24081349, PMID:24106596, PMID:24129438, PMID:24204751, PMID:24225052, PMID:24269240, PMID:24272871, PMID:24388274, PMID:24418186, PMID:24419263, PMID:24433235, PMID:24434749, PMID:24440181, PMID:24440239, PMID:24451227, PMID:24461666, PMID:24517344, PMID:24525081, 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:25024266, PMID:25033378, PMID:25042876, PMID:25049054, PMID:25060775, PMID:25066652, PMID:25087612, 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:25651269, 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: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: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:26618866, PMID:26631874, PMID:26651825, PMID:26656651, PMID:26671754, PMID:26684250, PMID:26708955, PMID:26755536, PMID:26795017, PMID:26800689, PMID:26823392, PMID:26826884, PMID:26846474, PMID:26847993, PMID:26856987, PMID:26864378, PMID:26888287, PMID:26898888, PMID:26900683, PMID:26911355, PMID:26946416, PMID:26948992, PMID:26968770, 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:27449771, PMID:27469177, PMID:27518913, PMID:27533158, PMID:27535533, PMID:27555793, 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:28129811, 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:29035608, PMID:29099333, PMID:29124052, PMID:29126871, PMID:29168366, PMID:29173301, PMID:29174009, PMID:29178639, PMID:29202459, PMID:29216686, PMID:29261177, PMID:29271547, PMID:29279204, PMID:29327948, PMID:29431110, PMID:29451946, PMID:29484681, PMID:29497617, PMID:29504914, PMID:29520692, PMID:29589582, PMID:29590070, PMID:29669919, PMID:29685811, PMID:29779145, PMID:29782810, PMID:29805046, PMID:29807875, PMID:29879995, PMID:29936070, PMID:29951967, PMID:29997923, PMID:30046002, PMID:30081288, PMID:30134826, PMID:30146269, PMID:30230364, PMID:30232781, PMID:30311386, PMID:30366773, PMID:30419605, PMID:30444886, PMID:30488522, PMID:30509709, PMID:30548586, PMID:30558651, PMID:30561903, PMID:30595473, PMID:30600261, PMID:30698611, PMID:30726326, PMID:30763667, PMID:30805437, PMID:30805499, PMID:30851139, PMID:30873022, PMID:30888834, PMID:30930780, PMID:30938940, PMID:30992994, PMID:30996306, PMID:31005549, PMID:31126253, PMID:31136843, PMID:31245908, PMID:31310009, PMID:31311920, PMID:31665830, PMID:31672438, PMID:31682332, PMID:31697873, PMID:31709488, PMID:31759907, PMID:31776420, PMID:31808782, PMID:31872980, PMID:31883651, PMID:31978131, PMID:32357917, 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:20301613, PMID:24033266, PMID:24729993, PMID:25741868, PMID:26365338, PMID:28443246, PMID:28492532, PMID:28617828, PMID:30291871, PMID:30311386, PMID:31220083, 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 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 Serpina3m serpin family A member 3M severity ISO RGD PMID:11120905 RGD:5147439 NCBI chr 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
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
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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Pancreatic insufficiency ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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 OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275, 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
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 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:9075812, PMID:9382893, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9642650, PMID:9648840, PMID:9769320, 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 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: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 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 OMIM:609968 OMIM
ClinVar
PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 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 term: Pancreatitis, idiopathic, susceptibility to
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:1997384, PMID:1999830, PMID:2135388, PMID:2210767, PMID:2210768, PMID:2220803, PMID:2233932, PMID:2236053, PMID:2300168, PMID:2349952, PMID:2378364, 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: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:7692051, PMID:7739684, PMID:8343799, PMID:8421472, 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: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: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: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:12833420, PMID:12843327, PMID:12940920, PMID:14526128, PMID:14685937, PMID:14963811, PMID:14998948, PMID:15070876, PMID:15097853, PMID:15141088, PMID:15151509, PMID:15221447, PMID:15246977, PMID:15287992, PMID:15354332, PMID:15367919, PMID:15371902, PMID:15371903, PMID:15463907, PMID:15480987, PMID:15482777, PMID:15520400, PMID:15619636, PMID:15638824, PMID:15776432, PMID:15857421, PMID:15858154, PMID:15948195, PMID:15987793, PMID:15994263, PMID:16049310, PMID:16339147, PMID:16741161, PMID:16915933, PMID:17003641, PMID:17015492, PMID:17035430, PMID:17098482, PMID:17206681, PMID:17329263, PMID:17331079, PMID:17353351, PMID:17380060, PMID:17489851, PMID:17572159, PMID:17594397, PMID:17662673, PMID:17681820, PMID:17692578, PMID:17975025, PMID:18178635, PMID:18373402, PMID:18421494, PMID:18456578, PMID:18463704, PMID:18501000, PMID:18507830, PMID:18556774, PMID:18639722, PMID:18687795, PMID:18703181, PMID:18716917, PMID:18722008, PMID:18951463, PMID:19017867, PMID:19092437, PMID:19202204, PMID:19318035, PMID:19734299, PMID:19812525, PMID:19846789, PMID:19880712, PMID:19885835, PMID:20021716, PMID:20059485, PMID:20381036, PMID:20460946, PMID:20538955, PMID:20595578, PMID:20622033, PMID:20705837, PMID:20706124, PMID:20722470, PMID:20837875, PMID:20880762, PMID:20977904, PMID:21083385, PMID:21131649, PMID:21152102, PMID:21228398, PMID:21233271, PMID:21416780, PMID:21507732, PMID:21520337, PMID:21602569, PMID:21658649, PMID:21804385, PMID:21825083, PMID:21976485, PMID:22047557, PMID:22148899, PMID:22293084, PMID:22318583, PMID:22383668, PMID:22427236, PMID:22483971, PMID:22591852, PMID:22658665, PMID:22664493, PMID:22678879, PMID:22768251, PMID:22892530, PMID:22942289, PMID:22975760, PMID:22981120, PMID:22992668, PMID:22995991, PMID:23313410, PMID:23378603, PMID:23381846, PMID:23420618, PMID:23457292, PMID:23466340, PMID:23514810, PMID:23523379, PMID:23590265, PMID:23721890, PMID:23751316, PMID:23757359, PMID:23757361, PMID:23781395, PMID:23891399, PMID:23951356, PMID:23974870, PMID:24033266, PMID:24066763, PMID:24204751, 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: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:26100556, PMID:26135562, PMID:26277102, PMID:26324139, PMID:26335950, PMID:26436105, PMID:26437683, PMID:26467025, PMID:26474553, PMID:26568242, PMID:26574590, PMID:26618866, PMID:26631874, PMID:26708955, PMID:26823392, PMID:26846474, PMID:26911355, PMID:26968770, PMID:27158673, PMID:27214033, PMID:27214204, PMID:27298017, PMID:27334259, PMID:27469177, PMID:27555793, PMID:27707539, PMID:27738188, PMID:27745802, PMID:27773592, PMID:27787503, PMID:27805836, PMID:27898234, PMID:28129809, PMID:28129811, PMID:28325531, PMID:28408918, PMID:28419121, PMID:28492532, PMID:28544683, PMID:28546993, PMID:28603918, PMID:28606620, PMID:28611235, PMID:28651844, PMID:28711222, PMID:29099333, PMID:29126871, PMID:29168366, PMID:29327948, PMID:29451946, PMID:29589582, PMID:29590070, PMID:29779145, PMID:29805046, PMID:30230364, PMID:30311386, PMID:30873022, PMID:31759907, PMID:31883651, PMID:31978131, PMID:32357917 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: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: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 pancreatitis
ClinVar Annotator: match by term: Hereditary chronic pancreatitis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6023921, PMID:8841182, PMID:9322498, PMID:9557894, PMID:9633818, PMID:10204851, PMID:10381903, PMID:10514442, PMID:10691414, PMID:10801865, PMID:10835640, PMID:10872414, PMID:10909845, PMID:10930381, PMID:10982192, PMID:10982753, PMID:11073545, PMID:11097832, PMID:11247900, PMID:11260229, PMID:11312265, PMID:11708864, PMID:11719509, PMID:11734061, PMID:11748242, PMID:11788572, PMID:11842279, PMID:11866271, PMID:11932257, PMID:11938439, 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:18063422, PMID:18184119, PMID:18272034, PMID:18286680, PMID:18461367, PMID:18511571, 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:28492532, PMID:28502372, PMID:28536777, PMID:29173301, PMID:29215622, PMID:29555771, PMID:29915322, 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:20510827, PMID:21610753, PMID:21952138, PMID:22228370, PMID:22343980, PMID:22343981, PMID:22427236, PMID:22526274, PMID:22572128, PMID:22577471, PMID:22749696, PMID:23017645, PMID:23741238, PMID:23951356, PMID:24033266, PMID:24052272, PMID:24522117, PMID:24795752, PMID:25206283, PMID:25383785, PMID:25741868, PMID:25792561, PMID:26228362, PMID:26348468, PMID:26632706, PMID:27171515, PMID:27535533, PMID:28320769, PMID:28440306, PMID:28492532, PMID:28502372, PMID:28536777, PMID:28546062, PMID:28556356, PMID:28609377, PMID:28687971, PMID:28984793, PMID:28994706, PMID:30311386, PMID:30420730, PMID:31628023 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:16982483, 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:18767144, PMID:19214942, PMID:19233137, PMID:19254908, 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:27065949, 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: Hyperinsulinism, Dominant/Recessive 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, 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 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Hyperinsulinemia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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: Hyperinsulinemia
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
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:29998026, 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: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
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 G6pc glucose-6-phosphatase, catalytic subunit 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 Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
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
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
Hypoglycemia, Leucine-Induced 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: Leucine-induced hypoglycemia
ClinVar Annotator: match by OMIM:240800
OMIM
ClinVar
PMID:15356046, PMID:25741868 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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 ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy OMIM
ClinVar
PMID:21979934 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
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 IEP protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 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 IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G C1r complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Capn10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29748970 RGD:13782289 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:29748970 RGD:13782289 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Cat catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cblb Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:29035695, PMID:18762729, PMID:22983634 RGD:2306985, RGD:8548844 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 Cd36 CD36 molecule ISO
IMP
IDA
associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism
CTD PMID:14640889, PMID:15231693, PMID:25477422, PMID:12923231, PMID:11175782 RGD:2307217, RGD:11041132, RGD:11040926, RGD:68930 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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