pancreas disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	pancreas disease	go back to main search page
Accession:	DOID:26	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:	EFO:0009605; ICD10CM:K86.8; ICD10CM:K86.89; ICD9CM:577.8
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (1270) Mouse (1054) Human (13002) Chinchilla (837) Bonobo (893) Dog (918) Squirrel (858) Pig (901) Green Monkey (882) Naked Mole-rat (835) All
Genes (893)

pancreas disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end-product specific receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

gastric inhibitory polypeptide

protein:increased expression:plasma (rat)

NCBI chr17:8,573,104...8,580,424

G

heme oxygenase 1

CTD Direct Evidence: therapeutic

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

HNF1 homeobox B

associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human)

NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863

G

interleukin 6

insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)

NCBI chr 7:23,415,922...23,420,767

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

mesothelin

protein:increased expression:serum

Ensembl chr16:777,146...783,449

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

abdominal obesity-metabolic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cardiotrophin 1

NCBI chr16:24,065,866...24,072,973

G

guanylate cyclase 2C

NCBI chr12:14,608,794...14,687,190
Ensembl chr12:15,008,099...15,091,647

G

leptin

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

nei like DNA glycosylase 1

NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

Ensembl chr22:45,218,364...45,302,970

G

peroxisome proliferator activated receptor gamma

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

PPARG coactivator 1 alpha

mRNA:increased expression:gastrocnemius muscle (rat)

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

protein kinase C iota

NCBI chr 3:167,237,093...167,320,522
Ensembl chr 3:175,426,774...175,510,072

G

sirtuin 3

NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732

G

solute carrier family 2 member 9

NCBI chr 4:4,232,737...4,442,387
Ensembl chr 4:9,553,491...9,746,981

abdominal obesity-metabolic syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

protein:increased oxidation:cardiac muscle cell

NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 apoptosis regulator

treatment

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

Fas associated via death domain

treatment

NCBI chr11:65,300,889...65,305,020

G

Fas cell surface death receptor

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

leptin

OMIM:605552

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

lipoprotein lipase

treatment

NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966

G

microsomal triglyceride transfer protein

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1

PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More...

NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107

G

toll like receptor 2

susceptibility

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

tumor protein p53 inducible nuclear protein 1

OMIM:605552

NCBI chr 8:91,545,655...91,569,535
Ensembl chr 8:93,747,162...93,767,196

abdominal obesity-metabolic syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-hook DNA binding motif containing 1

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3

PMID:25741868 PMID:29696776 PMID:33644933

NCBI chr 1:26,794,800...26,864,669

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition

PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:25741909 More...

NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387

abdominal obesity-metabolic syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chymotrypsin-like elastase family member 2A

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4

PMID:25741868 PMID:31358993

NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926

Acute Experimental Pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

treatment

NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923

G

BCL2 like 1

protein:increased expression:pancreas, mitochondrion (rat)

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

beclin 1

treatment

NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286

G

cyclin dependent kinase inhibitor 1A

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

endothelin receptor type A

treatment

NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497

G

Fas cell surface death receptor

severity

protein:increased expression:Kupffer cell:

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

severity

protein:increased expression:Kupffer cell:

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

glutathione synthetase

NCBI chr20:31,256,734...31,284,356
Ensembl chr20:32,381,745...32,409,297

G

high mobility group box 1

treatment

NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527

G

heat shock protein family A (Hsp70) member 5

protein:increased expression:neutrophil:

NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458

G

intercellular adhesion molecule 1

treatment

PMID:10201790 PMID:23706497

RGD:10402063 RGD:11520782

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interleukin 10

treatment

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 4

treatment

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

Janus kinase 1

treatment

NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991

G

kynurenine 3-monooxygenase

disease_progression

PMID:26752518 PMID:28398044

RGD:11342439 RGD:13703053

NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866

G

KRAS proto-oncogene, GTPase

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

lysosomal associated membrane protein 2

protein:decreased expression:pancreas

NCBI chr X:109,700,185...109,743,579
Ensembl chr X:119,886,982...119,929,896

G

microtubule associated protein 1 light chain 3 alpha

treatment

NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411

G

poly(ADP-ribose) polymerase 1

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

protein C, inactivator of coagulation factors Va and VIIIa

treatment

NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625

G

protein C receptor

treatment

protein:increased expression:blood

PMID:24749346 PMID:25688263

RGD:13515127 RGD:13515128

NCBI chr20:31,500,838...31,543,928
Ensembl chr20:32,622,876...32,628,320

G

platelet activating factor receptor

treatment

NCBI chr 1:27,405,880...27,436,184
Ensembl chr 1:28,447,833...28,448,861

G

serpin family C member 1

treatment

NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369

G

serine peptidase inhibitor Kazal type 1

treatment

NCBI chr 5:143,273,137...143,287,745

G

tumor necrosis factor

associated with Anemia, Hemolytic

PMID:12845374 PMID:15164724

RGD:10449461 RGD:1580295

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 1A

protein:increased expression:serum

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

TNF receptor superfamily member 1B

protein:increased expression:serum

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

G

von Willebrand factor

protein:increased expression:plasma:

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

acute necrotizing pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase activating polypeptide 1

NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749

G

arginase 1

NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162

G

beclin 1

protein:increased expression:pancreas

NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286

G

baculoviral IAP repeat containing 5

mRNA:increased expression:pancreas

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

BTG anti-proliferation factor 2

mRNA:increased expression:liver, kidney, pancreas

NCBI chr 1:178,907,317...178,911,410
Ensembl chr 1:183,201,297...183,205,404

G

complement C5

NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856

G

complement C5a receptor 1

NCBI chr19:44,293,612...44,310,430
Ensembl chr19:52,950,317...52,966,146

G

calcitonin related polypeptide alpha

resistance

NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267

G

caspase 3

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

C-C motif chemokine ligand 2

treatment
severity

mRNA:increased expression:pancreas

PMID:18642776 PMID:19050604

RGD:11062108 RGD:2307010

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD46 molecule

severity

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

G

CD59 molecule (CD59 blood group)

severity

protein:decreased expression:pancreas, acinar cell

NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157

G

cathepsin B

protein:increased activity:pancreas (rat)

NCBI chr 8:7,333,498...7,359,264

G

intercellular adhesion molecule 1

protein:increased expression:pancreas, lung (rat)

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interleukin 17A

protein:increased expression:pancreas, serum (rat)

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 1 beta

mRNA:increased expression:peritoneal macrophages (rat)

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

rat model treated with human protein

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 6

treatment

protein:increased expression:plasma (rat)

PMID:11780340 PMID:19050604

RGD:11062058 RGD:11062108

NCBI chr 7:23,415,922...23,420,767

G

uncharacterized LOC100974886

severity

NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555

G

growth-regulated alpha protein

mRNA:increased expression:pancreatic acinar cell

NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474

G

macrophage migration inhibitory factor

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

matrix metallopeptidase 2

mRNA:increased expression:pancreas (rat)

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

NFKB inhibitor alpha

treatment

NCBI chr14:16,155,331...16,158,588

G

nitric oxide synthase 1

treatment

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

G

nitric oxide synthase 2

protein:increased enzyme activity:pancreas

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

pancreatic and duodenal homeobox 1

protein:increased expression:epithelial cell of pancreas (rat)

NCBI chr13:9,199,572...9,206,202

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:pancreas

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

selectin P

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

serpin family E member 1

disease_progression

protein:increased expression:plasma (rat)

PMID:15257107 PMID:17446839

RGD:13208542 RGD:8547894

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

serpin family F member 2

protein:increased expression:plasma

NCBI chr17:1,725,469...1,738,887
Ensembl chr17:1,618,549...1,631,570

G

serpin family G member 1

protein:decreased expression:plasma

NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639

G

tachykinin receptor 1

mRNA,protein:increased expression:lung

NCBI chr2A:75,111,339...75,267,320
Ensembl chr2A:76,614,478...76,771,018

G

thromboxane A synthase 1

NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523

G

toll like receptor 2

mRNA:increased expression:liver

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 4

mRNA:increased expression:liver

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

acute pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADP ribosylation factor 1

treatment

NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105

G

baculoviral IAP repeat containing 5

mRNA,protein:increased expression:pancreas

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

BMI1 proto-oncogene, polycomb ring finger

protein:increased expression:pancreatic acinar cell:

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

G

CD163 molecule

associated with liver disease;protein:increased expression:blood serum (human)

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

C-X3-C motif chemokine ligand 1

treatment

NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760

G

coagulation factor III, tissue factor

protein:increased expression:serum (human, mouse)

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

coagulation factor VII

treatment

human protein in a rat model

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

interleukin 10

no_association

DNA:SNP:promoter: -819T>C (human)
DNA:SNP:promoter:-1082G>A (human)

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interferon regulatory factor 9

mRNA,protein:increased expression:kidney

NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824

G

KIT proto-oncogene, receptor tyrosine kinase

mRNA,protein:decreased expression:jejunum

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

leptin

associated with fatty liver disease; protein:increased expression:serum:

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

melatonin receptor 1B

NCBI chr11:87,996,805...88,009,865
Ensembl chr11:91,491,822...91,504,652

G

serpin family A member 1

associated with fatty liver disease; protein:decreased expression:serum:

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

toll like receptor 4

mRNA,protein:increased expression:liver:

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

triggering receptor expressed on myeloid cells 1

severity
ameliorates

PMID:19787284 PMID:26250893

RGD:11522077 RGD:127284839

NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091

adrenocorticotropic hormone deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

piezo type mechanosensitive ion channel component 1 (Er blood group)

ClinVar Annotator: match by term: ACTH deficiency

NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068

G

retinoid isomerohydrolase RPE65

ClinVar Annotator: match by term: ACTH deficiency

PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More...

NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904

Adult Pancreatic Cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171

alcoholic pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

DNA:missense mutations: :p.L1156F, Q1352H (human)

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

annular pancreas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 1

OMIM:167750

NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487

G

Indian hedgehog signaling molecule

OMIM:167750

NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506

autoimmune pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HLA class II histocompatibility antigen, DQ beta 1 chain

severity

DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human)

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

carnitine palmitoyltransferase I deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carnitine palmitoyltransferase 1A

ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency

PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 More...

NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481

Carnitine Palmitoyltransferase II Deficiency, Infantile

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carnitine palmitoyltransferase 2

ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile

PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More...

NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994

Chronic Experimental Pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cystathionine beta-synthase

protein:increased expression:arcuate nucleus (rat)

NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932

G

GLI family zinc finger 1

NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

NAD(P)H quinone dehydrogenase 1

treatment

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

patched 1

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

smoothened, frizzled class receptor

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

serine peptidase inhibitor Kazal type 1

treatment

protein:increased secretion:pancreatic juice:

PMID:12123090 PMID:19904222 PMID:22173919

RGD:10043091 RGD:10044253 RGD:10044261

NCBI chr 5:143,273,137...143,287,745

G

transforming growth factor beta 1

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

Chronic Pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein A4

protein:decreased expression:blood plasma (human)

NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382

G

BCL2 associated agonist of cell death

severity

NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257

G

BMI1 proto-oncogene, polycomb ring finger

protein:increased expression:exocrine pancreas:
protein:increased expression:pancreatic acinar cell:

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

G

carboxyl ester lipase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010

G

CF transmembrane conductance regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

collagen type I alpha 1 chain

treatment

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

carboxypeptidase A1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:122,335,250...122,353,369
Ensembl chr 7:134,861,920...134,871,834

G

chymotrypsin C

ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to

PMID:18059268 PMID:18172691 PMID:19453252 PMID:20625975 PMID:22427236 More...

NCBI chr 1:14,576,496...14,588,143
Ensembl chr 1:15,571,771...15,580,000

G

cytoglobin

NCBI chr17:70,475,651...70,485,987
Ensembl chr17:76,167,947...76,179,412

G

delta like canonical Notch ligand 1

mRNA,protein:increased expression:pancreas

NCBI chr 6:168,440,192...168,449,071
Ensembl chr 6:173,534,292...173,544,759

G

interferon gamma

disease_progression

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

jagged canonical Notch ligand 1

mRNA,protein:increased expression:pancreas

NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

G

serine protease 2

CTD Direct Evidence: marker/mechanism

PMID:16699518 PMID:18206817

NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587

G

nerve growth factor

protein:increased expression:pancreas

NCBI chr 1:87,223,597...87,276,759

G

nerve growth factor receptor

mRNA:increased expression:pancreas

NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

G

ring finger protein 2

protein:increased expression:pancreas

NCBI chr 1:160,568,438...160,626,783
Ensembl chr 1:164,721,458...164,779,420

G

serine peptidase inhibitor Kazal type 1

ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to

PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More...

NCBI chr 5:143,273,137...143,287,745

Congenital Hyperinsulinism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL

PMID:3202066 PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

glucokinase

ClinVar Annotator: match by term: Familial hyperinsulinism

PMID:19053014 PMID:19336674 PMID:21831042 PMID:23890519 PMID:25733449 More...

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

glutamate dehydrogenase 1

DNA:missense mutations: :

NCBI chr10:83,498,338...83,540,730

G

hydroxyacyl-CoA dehydrogenase

DNA:deletion:cds (human)

NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868

G

hepatocyte nuclear factor 4 alpha

ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism

PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 More...

NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL

PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 More...

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

G

potassium sodium-activated channel subfamily T member 2

ClinVar Annotator: match by term: KCNT2-related condition

PMID:25741868 PMID:29069600

NCBI chr 1:171,722,130...172,112,927
Ensembl chr 1:176,003,920...176,390,592

G

TBC1 domain family member 4

NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729

cystic fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 1

NCBI chr10:110,642,491...110,646,595

G

adrenoceptor beta 2

DNA:polymorphisms (human)

PMID:17502834 PMID:20203292

RGD:4145099 RGD:5129107

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

adrenoceptor beta 3

protein:increased expression:bronchus

NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949

G

advanced glycosylation end-product specific receptor

severity

DNA:polymorphism, haplotype:promoter:g.-429T>C rs1800625 (human)

PMID:21993476 PMID:24127697

RGD:6767553 RGD:8695959

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

bone gamma-carboxyglutamate protein

protein:decreased expression:serum

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

complement C5

severity

NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856

G

C-C motif chemokine ligand 17

mRNA, protein:increased expression:neutrophil

NCBI chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131

G

C-C motif chemokine ligand 2

protein:increased expression:respiratory system fluid/secretion

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine receptor 3

protein:increased expression:respiratory system fluid/secretion, neutrophil

NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630

G

CD14 molecule

susceptibility

DNA:polymorphism:promoter:c. -159 C>T
protein:increased expression:Macrophages, Alveolar

PMID:19466271 PMID:20302606

RGD:4144794 RGD:4144796

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CD40 ligand

protein:increased expression:blood

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

CF transmembrane conductance regulator

severity
disease_progression
no_association

ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis
DNA:nonsense mutation:cds;c. 2143delT (human)
DNA:missense mutation:exon:p.W1282X(human)
DNA:insertion:exon:c.3904_3905insT (human)
DNA:missense mutations: :p.F508C, S1251N
DNA:mutations:multiple
DNA:mutation:exon:p.R117H(human)
DNA:splice-site mutation:intron: 3272-26A>G (human)
DNA,protein:mutations,substitutions:exon:

OMIM
ClinVar
RGD

PMID:754013 PMID:1282016 PMID:1282900 PMID:1283148 PMID:1283149 More...

RGD:4140392 RGD:4140393 RGD:4140394 RGD:4140401 RGD:4140436 RGD:4140438 RGD:4140439 RGD:4140450

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

chloride channel accessory 1

mRNA, protein:increased expression:respiratory system mucosa

NCBI chr 1:118,999,099...119,030,839
Ensembl chr 1:87,852,599...87,884,751

G

chloride voltage-gated channel 2

NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049

G

carboxypeptidase A1

ClinVar Annotator: match by term: Mucoviscidosis

PMID:23955596 PMID:25741868 PMID:28492532

NCBI chr 7:122,335,250...122,353,369
Ensembl chr 7:134,861,920...134,871,834

G

colony stimulating factor 3 receptor

protein:increased expression:respiratory system fluid/secretion, neutrophil

NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612

G

C-X-C motif chemokine ligand 8

protein:increased expression:sputum

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine ligand 9

NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502

G

C-X-C motif chemokine receptor 2

NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148

G

C-X-C motif chemokine receptor 3

protein:increased expression:respiratory system fluid/secretion, neutrophil

NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756

G

cytochrome P450 family 1 subfamily A member 1

severity

DNA:polymorphism (human)

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

dynactin subunit 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:146,134,587...146,184,639
Ensembl chr 5:152,138,052...152,187,140

G

endothelin 1

protein:increased expression:sputum (human)

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

endoglin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

epoxide hydrolase 1

ClinVar Annotator: match by term: Mucoviscidosis

PMID:7516776 PMID:9288046 PMID:12704386 PMID:17532303 PMID:19017876 More...

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

G

Fas cell surface death receptor

severity

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

glutamate-cysteine ligase catalytic subunit

NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994

G

glutathione S-transferase mu 1

severity
no_association

DNA:deletion: : (human)
DNA:deletion, haplotype:: (human)
DNA:deletion:: (human)

PMID:10195071 PMID:20140303 PMID:22407040 PMID:23758905 PMID:24593045

RGD:10401929 RGD:12792207 RGD:12792246 RGD:12798506 RGD:14700942

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase mu 3

NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578

G

hepatitis A virus cellular receptor 2

NCBI chr 5:152,486,125...152,514,004
Ensembl chr 5:159,108,915...159,131,007

G

homeostatic iron regulator

severity

DNA:missense mutations: :p.H63D, p.C282Y (human)
ClinVar Annotator: match by term: Cystic fibrosis

PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 More...

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

heme oxygenase 1

mRNA:protein:increased expression:lung

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

heat shock protein family A (Hsp70) member 1A

DNA:polymorphism, haplotype: :1267A>G (human)

NCBI chr 6:31,476,710...31,491,411

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:serum:

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

insulin like growth factor 1

protein:increased expression:respiratory tract epithelium (rat)

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor binding protein 3

protein:decreased expression:serum:

NCBI chr 7:46,564,234...46,573,145

G

interleukin 13

mRNA:increased expression:bronchoalveolar lavage fluid

NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

G

interleukin 17A

protein:increased expression:lung
protein:increased expression:serum

PMID:19342416 PMID:21109552

RGD:4889105 RGD:4889130

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

protein:increased expression:serum

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 18 binding protein

protein:increased expression:serum

NCBI chr11:67,078,251...67,083,043
Ensembl chr11:70,302,923...70,307,511

G

interleukin 1 alpha

severity

protein:increased expression:serum

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

severity

DNA:SNPs: :rs1143634, rs1143639 (human)
protein:increased expression:sputum

PMID:10515411 PMID:19431193

RGD:4142844 RGD:4143181

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

protein:decreased expression:blood, neutrophil
protein:increased expression:sputum

PMID:10515411 PMID:12547728

RGD:4143175 RGD:4143181

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 6

protein:increased expression:lung
protein:increased expression:blood

PMID:16403491 PMID:20438838

RGD:4143275 RGD:5128672

NCBI chr 7:23,415,922...23,420,767

G

interleukin 9

protein:increased expression:respiratory system mucosa

NCBI chr 5:131,283,170...131,289,777
Ensembl chr 5:137,425,367...137,428,945

G

interleukin 9 receptor

protein:increased expression:respiratory system mucosa

Ensembl chr X:155,373,324...155,386,631

G

interferon regulatory factor 1

protein:decreased expression:intestine epithelium, nasal cavity epithelium

NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035

G

leptin

severity

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

uncharacterized LOC100974886

protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum

NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555

G

growth-regulated alpha protein

protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum

PMID:19597126 PMID:20818377

RGD:5135034 RGD:5135456

NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474

G

eotaxin

protein:increased expression:paranasal sinus

NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345

G

plasminogen

ClinVar Annotator: match by term: Cystic fibrosis

PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099

NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777

G

low affinity immunoglobulin gamma Fc region receptor II-a

susceptibility

ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis

PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More...

NCBI chr 1:136,892,311...136,906,450

G

pulmonary surfactant-associated protein A1

protein:decreased expression:lung

NCBI chr10:76,571,312...76,575,820

G

lymphotoxin alpha

severity

DNA:polymorphism, haplotype: :252A>G (human)

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

mannose binding lectin 2

severity

DNA:polymorphisms:5' utr, exon:multiple (human)
ClinVar Annotator: match by term: Cystic fibrosis
protein:decreased secretion:serum (human)

PMID:7707811 PMID:8206524 PMID:10071515 PMID:10449435 PMID:15674393 More...

RGD:4889443 RGD:4889447

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

macrophage migration inhibitory factor

severity

DNA:repeats:promoter

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

matrix metallopeptidase 9

protein:increased expression:bronchoalveolar lavage fluid
protein:increased expression:serum

PMID:17526676 PMID:25545245

RGD:13204794 RGD:5130723

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

myeloperoxidase

severity

DNA:polymorphism:promoter:-463G>A (human)

PMID:16883063 PMID:20954832

RGD:5130968 RGD:5130986

NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111

G

mucin 1, cell surface associated

protein:increased expression:serum (human)

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 2, oligomeric mucus/gel-forming

mRNA:increased expression:nasal mucosa (human)

NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741

G

mucin 5AC, oligomeric mucus/gel-forming

NCBI chr11:1,191,223...1,234,373

G

mucin 5B, oligomeric mucus/gel-forming

protein:altered glycosylation:saliva

PMID:11845304 PMID:17255563

RGD:5131191 RGD:5131194

G

mucin 6, oligomeric mucus/gel-forming

NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927

G

NADH:ubiquinone oxidoreductase core subunit S1

protein:increased oxidation:colonic epithelium, mitochondrion (mouse)

NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496

G

nitric oxide synthase 1

disease_progression

DNA:repeats:5'utr
mRNA:decreased expression:lung

PMID:11890749 PMID:12064512 PMID:14760158

RGD:5132627 RGD:5132865 RGD:5132868

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

G

nitric oxide synthase 2

mRNA,protein:decreased expression:respiratory mucosa

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

DNA:polymorphism:exon: c. 894G>T (human)

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

ClinVar Annotator: match by term: Cystic fibrosis

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

G

peroxisome proliferator activated receptor alpha

mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes

Ensembl chr22:45,218,364...45,302,970

G

prostaglandin D2 receptor 2

NCBI chr11:56,114,166...56,153,820
Ensembl chr11:59,556,460...59,557,647

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:nasal mucosa
DNA:SNPs: :-765G>C and 8473T>C (human)

PMID:18711055 PMID:20720307

RGD:5135298 RGD:5135523

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

pentraxin 3

susceptibility

DNA:SNP:exon:rs35948036(human)

NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:15077107 PMID:19462466

NCBI chr12:6,475,723...6,506,443

G

sodium channel epithelial 1 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:16207733 PMID:16463024

NCBI chr16:14,728,834...14,809,072
Ensembl chr16:23,555,388...23,634,873

G

sodium channel epithelial 1 subunit gamma

CTD Direct Evidence: marker/mechanism

NCBI chr16:14,893,631...14,928,402
Ensembl chr16:23,435,793...23,469,969

G

serpin family A member 1

ClinVar Annotator: match by term: Cystic fibrosis

PMID:301355 PMID:1082356 PMID:1889260 PMID:2567291 PMID:6093867 More...

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

serpin family A member 3

severity

NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515

G

surfactant protein B

mRNA:increased expression:respiratory system mucosa

NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332

G

surfactant protein C

protein:increased expression:lung

NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764

G

surfactant protein D

protein:decreased expression, altered degradation:lung

NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181

G

solute carrier family 26 member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,521,826...181,544,564
Ensembl chr 1:185,807,517...185,828,444

G

solute carrier family 6 member 14

CTD Direct Evidence: marker/mechanism

NCBI chr X:105,496,347...105,521,217
Ensembl chr X:115,912,873...115,939,693

G

solute carrier family 9 member A3

CTD Direct Evidence: marker/mechanism

G

transforming growth factor beta 1

ClinVar Annotator: match by term: Cystic fibrosis

PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More...

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

TIMP metallopeptidase inhibitor 1

protein:increased expression:serum

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

G

toll like receptor 4

severity

protein:increased expression:monocyte

PMID:20522639 PMID:20717938

RGD:4144105 RGD:4144179

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

toll like receptor 5

resistance

DNA:snp:cds:c.1174C>T rs5744168 (human)
protein:increased expression:lung, sputum, neutrophil (human)

PMID:18684966 PMID:21068401

RGD:5129499 RGD:5129506

NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343

G

tumor necrosis factor

severity

protein:increased expression:sputum
DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human)

PMID:7537567 PMID:21993476

RGD:4142846 RGD:6767553

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

duodenal gastrinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

menin 1

associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

exocrine pancreatic insufficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

onset

DNA:insertion:exon:c.3904_3905insT (human)
associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human)

PMID:8535440 PMID:9254853

RGD:4140401 RGD:4140448

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

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

cytochrome c oxidase subunit 4 isoform 2, mitochondrial

ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis

PMID:19268275 PMID:25741868 PMID:28492532

NCBI chr20:27,927,883...27,935,305
Ensembl chr20:29,061,447...29,067,440

Experimental Pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastase, neutrophil expressed

treatment

NCBI chr19:276,499...280,598

G

fibroblast growth factor 21

treatment

NCBI chr19:45,755,466...45,758,472

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

treatment

NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092

G

thromboxane A2 receptor

treatment

NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924

familial hyperinsulinemic hypoglycemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1

PMID:1021286 PMID:2198959 PMID:3202066 PMID:7716548 PMID:8650576 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1

PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194

NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1

PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 More...

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

familial hyperinsulinemic hypoglycemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2

PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2

PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 More...

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

familial hyperinsulinemic hypoglycemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucokinase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency

PMID:1502186 PMID:2555564 PMID:7553875 PMID:7555485 PMID:8068341 More...

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

familial hyperinsulinemic hypoglycemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency

PMID:904979 PMID:8825408 PMID:11489939 PMID:14693719 PMID:16725361 More...

NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868

G

insulin receptor

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency

PMID:2002058 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 More...

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

familial hyperinsulinemic hypoglycemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency

PMID:2002058 PMID:2170418 PMID:2211730 PMID:2983222 PMID:7042734 More...

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

familial hyperinsulinemic hypoglycemia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutamate dehydrogenase 1

ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome

PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 More...

NCBI chr10:83,498,338...83,540,730

G

shieldin complex subunit 2

ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr10:83,639,020...83,643,420

familial hyperinsulinemic hypoglycemia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 16 member 1

ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7

PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 More...

NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032

familial hyperinsulinemic hypoglycemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 25 member 36

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8

PMID:34576089 PMID:34971397 PMID:36695547

NCBI chr 3:137,976,619...138,014,774
Ensembl chr 3:145,585,900...145,608,694

Familial Pancreatic Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein A4

mRNA:increased expression:pancreas, carcinoma (human)

NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Familial pancreatic carcinoma

PMID:8755918 PMID:9443866 PMID:9463314 PMID:9887333 PMID:10330348 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Familial pancreatic carcinoma

PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26787654 More...

NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Familial pancreatic carcinoma

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

gastrinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin like growth factor 1 receptor

mRNA and protein: increased expression::poor prognosis for high expression

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

menin 1

CTD Direct Evidence: marker/mechanism
DNA:mutations: :

PMID:15944766 PMID:17961653

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

MET proto-oncogene, receptor tyrosine kinase

severity

associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

O-6-methylguanine-DNA methyltransferase

DNA:hypomethylation:promoter (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

PMID:8421107 PMID:12114701

RGD:2324976 RGD:2324977

NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722

Gastro-Enteropancreatic Neuroendocrine Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

disease_progression

associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human)

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATRX chromatin remodeler

severity

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

CD53 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:113,517,715...113,546,466
Ensembl chr 1:126,799,910...126,826,714

G

CD86 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

class II major histocompatibility complex transactivator

CTD Direct Evidence: marker/mechanism

NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485

G

C-X-C motif chemokine receptor 4

severity

protein:increased expression:colon (human)

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

death domain associated protein

severity

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

G

eomesodermin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:27,601,829...27,608,701
Ensembl chr 3:27,925,086...27,930,274

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272

G

growth factor independent 1 transcriptional repressor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,459,438...17,498,452
Ensembl chr17:17,643,750...17,741,479

G

interleukin 10

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 2 receptor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

POU class 2 homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,974,635...39,065,103
Ensembl chr19:47,570,891...47,611,589

G

protein tyrosine phosphatase receptor type C

CTD Direct Evidence: marker/mechanism

NCBI chr 1:174,246,389...174,364,893
Ensembl chr 1:178,556,104...178,672,994

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

Glucagonoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

betacellulin

protein:increased expression:pancreas

NCBI chr 4:49,329,413...49,462,891
Ensembl chr 4:55,242,899...55,298,773

G

menin 1

DNA:deletion:exon
CTD Direct Evidence: marker/mechanism

PMID:17961653 PMID:20138042

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

PMID:8421107 PMID:12114701

RGD:2324976 RGD:2324977

NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722

G

somatostatin receptor 4

NCBI chr20:22,982,009...22,986,058
Ensembl chr20:23,333,320...23,334,766

Hereditary Pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

agmatinase (putative)

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

NCBI chr 1:14,711,891...14,723,546
Ensembl chr 1:15,704,989...15,717,428

G

caspase 9

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to

PMID:754013 PMID:1282016 PMID:1283148 PMID:1284477 PMID:1284530 More...

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

C-type lectin domain containing 5A

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,851,242...133,870,793
Ensembl chr 7:146,320,331...146,339,905

G

carboxypeptidase A1

ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23955596 PMID:24522117 More...

NCBI chr 7:122,335,250...122,353,369
Ensembl chr 7:134,861,920...134,871,834

G

chymotrypsin C

susceptibility

ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:190101 PMID:8168476 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 1:14,576,496...14,588,143
Ensembl chr 1:15,571,771...15,580,000

G

DNA damage inducible 1 homolog 2

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

NCBI chr 1:14,757,327...14,810,959
Ensembl chr 1:15,749,497...15,790,263
Ensembl chr 1:15,749,497...15,790,263

G

DnaJ heat shock protein family (Hsp40) member C16

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

NCBI chr 1:14,664,286...14,710,171
Ensembl chr 1:15,659,107...15,707,329

G

EPH receptor B6

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:134,845,936...134,862,114
Ensembl chr 7:147,337,558...147,353,575

G

transient receptor potential cation channel subfamily V member 6

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:134,862,223...134,877,051
Ensembl chr 7:147,353,684...147,368,475

G

serine protease 2

ClinVar Annotator: match by term: Pancreatitis, chronic, protection against

NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587

G

chymotrypsin-like elastase family member 2A

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926

G

maltase-glucoamylase

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,929,152...134,028,684
Ensembl chr 7:146,398,798...146,498,714

G

pleckstrin homology and RUN domain containing M2

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

NCBI chr 1:14,826,604...14,877,142
Ensembl chr 1:15,846,673...15,869,327

G

serine protease 37

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,767,802...133,773,321
Ensembl chr 7:146,236,906...146,242,157

G

serine protease 58

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:134,179,697...134,185,609
Ensembl chr 7:146,649,838...146,655,728

G

regulator of solute carriers 1

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

Ensembl chr 1:15,793,469...15,795,325

G

secretion associated Ras related GTPase 1B

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:12692552 PMID:25741868

NCBI chr 5:130,008,941...130,035,785
Ensembl chr 5:136,157,408...136,181,967

G

solute carrier family 25 member 34

ClinVar Annotator: match by term: Hereditary pancreatitis

PMID:23721890 PMID:28492532

NCBI chr 1:14,877,351...14,883,769
Ensembl chr 1:15,870,289...15,875,099

G

serine peptidase inhibitor Kazal type 1

ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to

PMID:120111 PMID:1613792 PMID:1870127 PMID:3501289 PMID:9536098 More...

NCBI chr 5:143,273,137...143,287,745

G

single stranded DNA binding protein 1

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,670,085...133,682,228
Ensembl chr 7:146,139,837...146,151,495

G

taste 2 receptor member 3

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,692,537...133,701,441
Ensembl chr 7:146,165,148...146,166,098

G

taste 2 receptor member 38

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,896,405...133,897,535
Ensembl chr 7:146,365,527...146,366,528

G

taste 2 receptor member 4

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,707,669...133,712,521
Ensembl chr 7:146,179,311...146,180,210

G

taste 2 receptor member 5

ClinVar Annotator: match by term: Hereditary pancreatitis

NCBI chr 7:133,721,621...133,723,728
Ensembl chr 7:146,191,231...146,192,130

HMG-CoA synthase 2 deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

3-hydroxy-3-methylglutaryl-CoA synthase 2

ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY

PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 More...

NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679

G

phosphoglycerate dehydrogenase

ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency

NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462

hyperinsulinemic hypoglycemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy

PMID:1021286 PMID:2198959 PMID:7716548 PMID:8650576 PMID:8751851 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

glucokinase

OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy

PMID:8825408 PMID:16725361 PMID:19417036 PMID:21347589 PMID:23275527 More...

NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia

PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 More...

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

hyperinsulinism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

susceptibility

ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive

PMID:1021286 PMID:7716548 PMID:8923011 PMID:9041101 PMID:9075812 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

adenylate cyclase activating polypeptide 1

NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749

G

adiponectin, C1Q and collagen domain containing

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adiponectin receptor 1

mRNA:decreased expression:skeletal muscle cell

NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782

G

adiponectin receptor 2

mRNA:increased expression:skeletal muscle cell

NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251

G

adrenomedullin

associated with Obesity;protein:increased expression:plasma

NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842

G

adrenoceptor alpha 1B

susceptibility

NCBI chr 5:155,307,148...155,363,785
Ensembl chr 5:161,923,895...161,979,461

G

adrenoceptor beta 3

associated with Obesity;mRNA:decreased expression:epidydimis, white fat

NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949

G

angiotensinogen

associated with obesity;DNA:polymorphism: :p.M235T

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

Bardet-Biedl syndrome 1

NCBI chr11:61,868,257...61,892,473
Ensembl chr11:65,192,355...65,216,274

G

bromodomain containing 2

NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta (rat)

PMID:17180354 PMID:29035695

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD163 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD40 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981

G

cyclin dependent kinase inhibitor 1C

DNA:loss of heterozygosity:pancreatic islet

NCBI chr11:2,908,537...2,911,134

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

dopa decarboxylase

protein:increased expression:pancreatic beta cell (human)

NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

FA complementation group C

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

G

fibrillin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

forkhead box A2

NCBI chr20:22,519,942...22,524,262

G

glucagon

CTD Direct Evidence: marker/mechanism

NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155

G

glucokinase

ClinVar Annotator: match by term: Hyperinsulinism, Dominant

PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 More...

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

glutamine--fructose-6-phosphate transaminase 1

mRNA:increased expression:gastrocnemius

NCBI chr2A:69,363,229...69,430,182
Ensembl chr2A:70,488,763...70,551,141

G

gastric inhibitory polypeptide

protein:decreased expression:plasma (rat)

NCBI chr17:8,573,104...8,580,424

G

glutamate dehydrogenase 1

ClinVar Annotator: match by term: Hyperinsulinism, Dominant

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr10:83,498,338...83,540,730

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

PMID:15184668 PMID:18560803

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive

PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194

NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868

G

heme oxygenase 1

CTD Direct Evidence: therapeutic

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

hepatocyte nuclear factor 4 alpha

ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant

PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 More...

NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536

G

interleukin 6

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)

NCBI chr 7:23,415,922...23,420,767

G

insulin

CTD Direct Evidence: marker/mechanism

PMID:2991050 PMID:3511099 PMID:4019786 PMID:6382002 PMID:9667398 More...

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

insulin receptor

DNA:missense mutation: :p.P1195L (mouse)
CTD Direct Evidence: marker/mechanism

PMID:10949030 PMID:18411068 PMID:21549686

RGD:10403034 RGD:1302523

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

G

iron responsive element binding protein 2

protein:increased expression:liver (rat)

NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

integrin subunit alpha M

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive

PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More...

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

G

leptin

CTD Direct Evidence: marker/mechanism

PMID:9826672 PMID:22948215

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

leptin receptor

CTD Direct Evidence: marker/mechanism

PMID:3519326 PMID:15093691 PMID:22949526 PMID:24384915 PMID:25222487 More...

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

lipase C, hepatic type

associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)

PMID:1592086 PMID:7047662 PMID:11095452

RGD:2308794 RGD:2308800 RGD:2308844

NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005

G

thioredoxin-interacting protein

susceptibility

DNA:nonsense mutation

NCBI chr 1:90,007,878...90,012,055

G

lymphotoxin alpha

associated with Coronary Arteriosclerosis

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

melanocortin 4 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257

G

mahogunin ring finger 1

NCBI chr16:3,550,352...3,615,693
Ensembl chr16:4,740,763...4,782,638

G

mannose receptor C-type 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:18,128,280...18,230,438
Ensembl chr10:18,398,310...18,500,367

G

microsomal triglyceride transfer protein

susceptibility

DNA:polymorphism:promoter:-493G>T

NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107

G

nei like DNA glycosylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

neuropeptide Y receptor Y5

NCBI chr 4:155,603,739...155,612,302

G

presenilin associated rhomboid like

no_association

DNA:missense mutation:cds:p.L262V (human)

PMID:15729572 PMID:19185381

RGD:12880443 RGD:12880445

NCBI chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

associated with Obesity;protein:increased expression:liver

NCBI chr X:47,143,081...47,209,034
Ensembl chr X:55,374,807...55,441,024

G

pyruvate kinase L/R

mRNA:increased expression:liver

NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351

G

protein kinase C delta

NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910

G

protein kinase C theta

associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus

NCBI chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900

G

phosphatase and tensin homolog

protein:decreased expression:ovary

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

protein tyrosine phosphatase non-receptor type 1

CTD Direct Evidence: therapeutic
associated with Carotid Artery Injuries;mRNA, protein:altered expression, altered activity:carotid artery (rat)

PMID:19011046 PMID:28899902

NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421

G

protein tyrosine phosphatase receptor type F

protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced

NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647

G

retinol binding protein 4

onset

associated with coronary artery disease;protein:increased expression:blood serum (human)

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

ribosomal protein S6 kinase B1

protein:increased phosphorylation:liver, skeletal muscle

NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653

G

stearoyl-CoA desaturase

associated with Obesity

NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776

G

shieldin complex subunit 2

ClinVar Annotator: match by term: Hyperinsulinism, Dominant

NCBI chr10:83,639,020...83,643,420

G

solute carrier family 16 member 1

ClinVar Annotator: match by term: Hyperinsulinism, Dominant

PMID:25741868 PMID:28492532

NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032

G

solute carrier family 27 member 1

protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle

NCBI chr19:16,956,000...16,993,429
Ensembl chr19:17,929,785...17,966,171

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TSC22 domain family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:96,806,179...96,870,020
Ensembl chr X:107,179,077...107,242,902

G

uncoupling protein 2

ClinVar Annotator: match by term: UCP2-related condition

PMID:25741868 PMID:28492532

NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185

hypoglycemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Hypoglycemia

PMID:10204114 PMID:10685980 PMID:16380471 PMID:16416420 PMID:16613899 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

angiotensin II receptor type 2

associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human)

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

aryl hydrocarbon receptor

CTD Direct Evidence: therapeutic

NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171

G

AKT serine/threonine kinase 2

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

G

calcium voltage-gated channel subunit alpha1 C

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

cAMP responsive element binding protein 1

NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130

G

corticotropin releasing hormone

NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009

G

cytochrome P450 family 2 subfamily C member 9

associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human)

NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653

G

erythropoietin

associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

glucose-6-phosphatase catalytic subunit 1

ClinVar Annotator: match by term: Hypoglycemia

PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 More...

NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674

G

glucokinase

hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

glutamate dehydrogenase 1

familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A

NCBI chr10:83,498,338...83,540,730

G

glutathione peroxidase 3

mRNA:increased expression:retina

NCBI chr 5:146,447,939...146,456,476

G

glutamate ionotropic receptor NMDA type subunit 2B

mRNA, protein:increased expression:cerebellum (rat)

NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799

G

glutathione-disulfide reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557

G

HNF1 homeobox A

CTD Direct Evidence: marker/mechanism

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

G

hepatocyte nuclear factor 4 alpha

associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation

PMID:17407387 PMID:18268044

RGD:12904698 RGD:2301837

NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

inositol polyphosphate phosphatase like 1

NCBI chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846

G

insulin

CTD Direct Evidence: marker/mechanism

PMID:48835 PMID:1324617 PMID:1646414 PMID:1890151 PMID:2554359 More...

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: Hypoglycemia

PMID:18596924 PMID:20032456 PMID:23700433 PMID:27908292 PMID:31464105

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

G

myomesin 1

ClinVar Annotator: match by term: Hypoglycemia

PMID:25741868 PMID:28492532

NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Hypoglycemia

NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425

G

phosphoinositide-3-kinase regulatory subunit 1

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

G

phenylethanolamine N-methyltransferase

associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat)

NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

Ensembl chr22:45,218,364...45,302,970

G

protein phosphatase 1 regulatory subunit 3A

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human)

NCBI chr 7:105,831,567...105,873,793
Ensembl chr 7:118,529,362...118,571,770

G

prolactin

associated with Hypertension

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Hypoglycemia

PMID:19763161 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 More...

NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

tyrosine hydroxylase

associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat)

NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

uncoupling protein 3

NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274

hypoinsulinemic hypoglycemia with hemihypertrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 2

ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy

PMID:15166380 PMID:16722806 PMID:21518566 PMID:21979934 PMID:25741868 More...

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clathrin heavy chain

ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

NCBI chr17:53,685,865...53,761,008
Ensembl chr17:58,529,750...58,603,636

G

peptidyl-tRNA hydrolase 2

ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

PMID:25558065 PMID:25741868 PMID:25741914 PMID:27129381 PMID:28328138 More...

NCBI chr17:53,763,222...53,773,191
Ensembl chr17:58,605,850...58,615,809

G

S100P binding protein

ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

NCBI chr 1:32,108,070...32,149,433
Ensembl chr 1:33,295,373...33,335,495

G

tyrosyl-tRNA synthetase 1

ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tyrosyl-tRNA synthetase 1

ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

PMID:3034524 PMID:14606043 PMID:16429158 PMID:19561293 PMID:25741868 More...

NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558

Insulin Resistance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetyl-CoA carboxylase alpha

treatment

PMID:16485039 PMID:26394137

RGD:1625727 RGD:329955565

NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651

G

acetyl-CoA carboxylase beta

treatment

CTD Direct Evidence: marker/mechanism

PMID:16485039 PMID:22658938 PMID:26394137

RGD:1625727 RGD:329955565

NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847

G

acid phosphatase 1

associated with Obesity

NCBI chr2A:257,892...271,320
Ensembl chr2A:253,656...267,086

G

acyl-CoA synthetase long chain family member 1

mRNA:decreased expression:subcutaneous adipose tissue

NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646

G

adiponectin, C1Q and collagen domain containing

treatment

CTD Direct Evidence: therapeutic
associated with Hypertension

PMID:16041833 PMID:18931039 PMID:21484566 PMID:21872431 PMID:23089228

RGD:1599150 RGD:8695928 RGD:8695951

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adiponectin receptor 1

resistance

associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C

NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782

G

adiponectin receptor 2

treatment

PMID:24797033 PMID:30225267

RGD:21406435 RGD:25824940

NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251

G

adrenomedullin

CTD Direct Evidence: therapeutic

NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842

G

adenosine A1 receptor

treatment

associated with Obesity

PMID:11703426 PMID:15220221

RGD:1625243 RGD:2313807

NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760

G

adrenoceptor alpha 1B

susceptibility

NCBI chr 5:155,307,148...155,363,785
Ensembl chr 5:161,923,895...161,979,461

G

adrenoceptor beta 2

CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :p.R16G

PMID:11510954 PMID:15699455 PMID:19034036

RGD:1598757 RGD:1601125

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

adrenoceptor beta 3

no_association

associated with Obesity;DNA:polymorphism: :p.W64R (human)
DNA:missense mutation:cds:p.W64R rs4994 (human)

PMID:10421225 PMID:10582543 PMID:17299491

RGD:1559326 RGD:2313158 RGD:5684421

NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949

G

angiotensin II receptor type 2

protein:increased expression:dorsal root ganglion, neuron

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171

G

alpha 2-HS glycoprotein

susceptibility

protein:increased expression:plasma

PMID:16567827 PMID:17011519

RGD:1625793 RGD:1625794

NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915

G

AKT serine/threonine kinase 2

no_association

DNA:SNPs

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

G

aldehyde dehydrogenase 2 family member

treatment

protein:altered expression, altered activity:liver (rat)

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

G

arachidonate 15-lipoxygenase

NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669

G

ankyrin repeat domain containing 26

NCBI chr10:27,111,909...27,210,001
Ensembl chr10:27,478,452...27,572,261

G

apelin

mRNA:increased expression:subcutaneous adipose tissue

NCBI chr X:118,775,509...118,785,224

G

apolipoprotein A2

NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959

G

apolipoprotein C1

associated with Diabetes Mellitus, Non-Insulin-Dependent

G

apolipoprotein C3

treatment
susceptibility

PMID:15007394 PMID:15734841

RGD:1580750 RGD:1601226

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

androgen receptor

associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD Direct Evidence: marker/mechanism

PMID:16793958 PMID:17332526 PMID:21444647

RGD:1601244 RGD:2306773

NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357

G

arginase 1

protein:decreased activity:liver (rat)

NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162

G

arsenite methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr10:99,470,026...99,502,829
Ensembl chr10:102,933,671...102,964,692

G

ATM serine/threonine kinase

treatment

protein:decreased expression:muscle:
Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)

PMID:18534819 PMID:23171036

RGD:126781688 RGD:8693659

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATPase Na+/K+ transporting subunit alpha 2

mRNA:increased expression:skeletal muscle

NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303

G

BCL2 associated agonist of cell death

protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart

NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257

G

butyrylcholinesterase

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

bradykinin receptor B1

PMID:17618300 PMID:17988733

RGD:5129214 RGD:5129217

NCBI chr14:76,885,923...76,894,456

G

BSCL2 lipid droplet biogenesis associated, seipin

NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494

G

complement C1r

protein:increased expression:adipocyte

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

complement C3

CTD Direct Evidence: marker/mechanism

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

calpain 10

DNA:SNP:intron:rs3792267 (human)

NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169

G

caspase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149

G

caspase 3

treatment

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

caspase 8

NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468

G

catalase

associated with Obesity

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

Cbl proto-oncogene B

NCBI chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191

G

C-C motif chemokine ligand 2

susceptibility

CTD Direct Evidence: marker/mechanism
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)

PMID:18762729 PMID:22983634 PMID:29035695

RGD:2306985 RGD:8548844

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD163 molecule

exacerbates

CTD Direct Evidence: marker/mechanism
associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)

PMID:26554542 PMID:29035695

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD36 molecule (CD36 blood group)

associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism

PMID:11175782 PMID:12923231 PMID:14640889 PMID:15231693 PMID:25477422

RGD:11040926 RGD:11041132 RGD:2307217 RGD:68930

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981

G

ceramide synthase 1

ameliorates

NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487

G

cannabinoid receptor 1

associated with Obesity

NCBI chr 6:86,017,141...86,044,889

G

coenzyme Q2, polyprenyltransferase

associated with obesity

NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014

G

carboxypeptidase B2

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma

NCBI chr13:26,926,788...26,979,767

G

carboxypeptidase E

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,575,157...157,705,173
Ensembl chr 4:169,659,007...169,780,739

G

cystatin C

associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)

NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425

G

cardiotrophin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:24,065,866...24,072,973

G

cytochrome P450 family 2 subfamily R member 1

DNA:SNP:CDS: rs12794714|rs10766197 (human)

NCBI chr11:14,960,651...14,989,083
Ensembl chr11:14,656,939...14,671,584

G

diacylglycerol O-acyltransferase 2

treatment

NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854

G

iodothyronine deiodinase 2

DNA:SNP: :rs225014, p.T92A (human)

NCBI chr14:60,756,781...60,775,255

G

dopamine receptor D1

associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule

NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Insulin resistance, susceptibility to

PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 More...

NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

G

coagulation factor VII

severity

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

fatty acid binding protein 2

no_association

DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF

PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 More...

NCBI chr 4:111,505,269...111,510,197
Ensembl chr 4:122,055,544...122,060,461

G

fatty acid binding protein 3

severity

NCBI chr 1:30,640,595...30,653,450
Ensembl chr 1:31,665,270...31,673,689

G

fatty acid binding protein 4

NCBI chr 8:78,001,476...78,006,006
Ensembl chr 8:79,624,899...79,630,168

G

FA complementation group A

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

FA complementation group C

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

G

Fas cell surface death receptor

treatment

associated with hypothalamic disease

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

fatty acid synthase

treatment

NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647

G

fibroblast growth factor 19

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,794,157...64,800,512
Ensembl chr11:68,085,306...68,090,028

G

fission, mitochondrial 1

protein:increased expression:liver (rat)

NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683

G

forkhead box C2

DNA:polymorphism:5'ut:-512C>T

NCBI chr16:67,237,476...67,239,545

G

forkhead box O1

mRNA:increased expression:adipose tissue:

NCBI chr13:21,763,729...21,874,279

G

FTO alpha-ketoglutarate dependent dioxygenase

associated with obesity;DNA:SNP:intron:rs17817449 (human)
mRNA, protein:increased expression:liver
DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human)
associated with diabetes mellitus;DNA:SNP: :rs9939609 (human)

PMID:20075932 PMID:21919686 PMID:30273662 PMID:35945320

RGD:329812018 RGD:329812040 RGD:329853775 RGD:329951016

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

frataxin

DNA:repeats:intron:GAA (human)

NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031

G

glucose-6-phosphate dehydrogenase

associated with Obesity;protein:increased expression:pancreas

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

glucokinase

protein:increased expression:pancreatic islet

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

glutamine--fructose-6-phosphate transaminase 1

NCBI chr2A:69,363,229...69,430,182
Ensembl chr2A:70,488,763...70,551,141

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr20:55,190,607...55,262,245

G

G protein subunit beta 3

DNA:polymorphism: :825C>T (human)

NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692

G

glycerol-3-phosphate acyltransferase, mitochondrial

treatment

NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549

G

G protein-coupled receptor 17

CTD Direct Evidence: marker/mechanism

NCBI chr2B:32,623,444...32,630,256
Ensembl chr2B:128,316,464...128,321,519

G

glutathione peroxidase 3

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma

PMID:19270708 PMID:24361363

NCBI chr 5:146,447,939...146,456,476

G

G protein-coupled receptor kinase 2

NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066

G

glutathione S-transferase alpha 4

mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)

NCBI chr 6:52,532,942...52,550,404
Ensembl chr 6:54,171,318...54,188,976

G

glycogen synthase 1

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)

NCBI chr19:45,970,127...45,995,269
Ensembl chr19:54,761,479...54,786,726

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:33,807,171...33,816,603

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:decreased expression:muscle:defective protection against oxidative stress

PMID:12941774 PMID:18375438 PMID:19171794

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

HNF1 homeobox A

ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF

PMID:8945470 PMID:9112026 PMID:9287053 PMID:9604876 PMID:10333057 More...

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

G

hydroxysteroid 11-beta dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765

G

heat shock protein family D (Hsp60) member 1

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

5-hydroxytryptamine receptor 2A

associated with Peripheral Vascular Diseases

NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826

G

intercellular adhesion molecule 1

associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum

PMID:11782876 PMID:19394054

RGD:1625753 RGD:2313467

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

insulin like growth factor 2 mRNA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:182,667,557...182,848,528
Ensembl chr 3:191,142,063...191,320,221

G

insulin like growth factor binding protein acid labile subunit

CTD Direct Evidence: marker/mechanism

NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

PMID:17259371 PMID:22537059

NCBI chr2B:103,893,724...103,925,318

G

insulin like growth factor binding protein 3

NCBI chr 7:46,564,234...46,573,145

G

insulin like growth factor binding protein 6

human transgene overexpressed in mouse brain

NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132

G

insulin like growth factor binding protein 7

protein:increased expression:serum
associated with metabolic dysfunction-associated steatotic liver disease

PMID:16873698 PMID:31397492

RGD:1626516 RGD:401960873

NCBI chr 4:66,808,845...66,888,301
Ensembl chr 4:73,382,745...73,462,087

G

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

CTD Direct Evidence: marker/mechanism

PMID:11533494 PMID:19073766 PMID:29036520

RGD:10045961 RGD:7495768

NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971

G

interleukin 18

treatment

associated with Graves Disease

PMID:16732281 PMID:23257837

RGD:14695532 RGD:8655938

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

treatment

associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease

PMID:16865359 PMID:29522769

RGD:13792596 RGD:1626632

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 6

mRNA:increased expression:islet of Langerhans
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)

PMID:19328014 PMID:21826222

RGD:10402828 RGD:2307252

NCBI chr 7:23,415,922...23,420,767

G

interleukin 6 receptor

protein:decreased expression:serum

NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089

G

interleukin 7

CTD Direct Evidence: therapeutic

NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918

G

inositol polyphosphate phosphatase like 1

associated with Metabolic Syndrome X

PMID:12453826 PMID:17327370

RGD:2312440 RGD:2312442

NCBI chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846

G

insulin

CTD Direct Evidence: marker/mechanism

PMID:3322910 PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

insulin receptor

treatment
disease_progression

ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A
mRNA, protein:decreased expression:liver (rat)

PMID:1314826 PMID:1644241 PMID:1890161 PMID:1963473 PMID:1971035 More...

RGD:10403037 RGD:11529553

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

G

insulin receptor substrate 1

ClinVar Annotator: match by term: Insulin resistance, susceptibility to

PMID:1311924 PMID:7623569 PMID:8104271 PMID:8647950 PMID:10084586 More...

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

insulin receptor substrate 2

DNA:polymorphism:exon:G1057D
CTD Direct Evidence: marker/mechanism

PMID:15811564 PMID:25808216

NCBI chr13:90,886,095...90,917,724

G

integrin subunit alpha M

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

potassium inwardly rectifying channel subfamily J member 11

CTD Direct Evidence: marker/mechanism

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

G

potassium calcium-activated channel subfamily M regulatory beta subunit 1

mRNA, protein:decreased expression:aorta, mesenteric artery

NCBI chr 5:165,712,588...165,747,948
Ensembl chr 5:172,495,762...172,507,318

G

KLF transcription factor 11

NCBI chr2A:10,027,152...10,051,445
Ensembl chr2A:10,195,564...10,208,220

G

KLF transcription factor 14

CTD Direct Evidence: marker/mechanism

NCBI chr 7:122,695,015...122,696,635

G

kallikrein 1

NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216

G

leptin

protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Obesity
DNA:nonsense mutation:cds:

PMID:10753628 PMID:11342529 PMID:19296906 PMID:19419916 PMID:23800849 More...

RGD:2311127 RGD:5128697 RGD:8549777

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

leptin receptor

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:CDS:p.K656N (human)
associated with Obesity;DNA:missense mutation:CDS:p.K656N (human)
CTD Direct Evidence: marker/mechanism

PMID:18413223 PMID:18632178 PMID:19452630 PMID:20567778 PMID:23154293 More...

RGD:13432147 RGD:2311138 RGD:2311142

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

lipase C, hepatic type

CTD Direct Evidence: marker/mechanism

NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005

G

lamin A/C

ClinVar Annotator: match by term: Insulin-resistance syndrome type A

PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More...

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

somatotropin

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial

treatment

NCBI chr19:35,909,348...35,925,686
Ensembl chr19:44,479,561...44,489,355

G

lipin 1

NCBI chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551

G

lipoprotein lipase

NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966

G

lymphotoxin alpha

no_association

DNA:polymorphism

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

mitogen-activated protein kinase 3

treatment

associated with polycystic ovary syndrome

Ensembl chr16:30,489,362...30,498,017

G

melanocortin 4 receptor

CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver (rat)
DNA:nonsense mutation:cds:p.K314X (rat)

PMID:18454146 PMID:24400148 PMID:35945320

RGD:13825242 RGD:329951016

NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257

G

meteorin like, glial cell differentiation regulator

CTD Direct Evidence: therapeutic

NCBI chr17:77,511,681...77,527,677
Ensembl chr17:83,287,606...83,301,637

G

methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:110,879,137...110,905,131
Ensembl chr 4:121,431,026...121,458,392

G

mitofusin 2

treatment

NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077

G

macrophage migration inhibitory factor

protein:increased expression:plasma

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

MLX interacting protein like

treatment

Ensembl chr 7:80,745,765...80,776,153

G

malonyl-CoA decarboxylase

treatment

NCBI chr16:64,520,860...64,537,955
Ensembl chr16:83,912,793...83,929,162

G

mannose receptor C-type 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:18,128,280...18,230,438
Ensembl chr10:18,398,310...18,500,367

G

nicotinamide phosphoribosyltransferase

associated with Polycystic Ovary Syndrome;protein:increased expression:serum

NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967

G

nei like DNA glycosylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474

G

NFE2 like bZIP transcription factor 2

associated with obesity; protein:decreased expression:hepatocyte:
CTD Direct Evidence: therapeutic

PMID:32102936 PMID:33933676

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

NLR family pyrin domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

nitric oxide synthase 2

mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)

PMID:21846719 PMID:22023455

RGD:5509041 RGD:5509075

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

treatment

protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:11457755 PMID:12716763 PMID:12947532 PMID:18298918 PMID:19008412 More...

RGD:13450950 RGD:2292098

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

natriuretic peptide B

associated with Obesity and Hypertension;protein:decreased expression:serum

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

nuclear receptor subfamily 1 group H member 4

susceptibility

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

nuclear receptor subfamily 4 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,703,903...36,740,211
Ensembl chr12:37,480,300...37,501,188

G

nuclear receptor subfamily 4 group A member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:70,907,056...70,950,221

G

NUS1 dehydrodolichyl diphosphate synthase subunit

CTD Direct Evidence: therapeutic

NCBI chr 6:115,486,422...115,521,317

G

presenilin associated rhomboid like

mRNA:decreased expression:gastrocnemius (rat)

NCBI chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036

G

pancreatic and duodenal homeobox 1

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)

PMID:16046294 PMID:18288891

RGD:2311222 RGD:2311223

NCBI chr13:9,199,572...9,206,202

G

phosphoinositide-3-kinase regulatory subunit 1

associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD Direct Evidence: marker/mechanism

PMID:10426374 PMID:14714311 PMID:16332940 PMID:17283057

RGD:1625211 RGD:1625212 RGD:1625262

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

G

pyruvate kinase L/R

treatment

mRNA, protein:decreased expression:liver

PMID:12958186 PMID:26394137

RGD:1625583 RGD:329955565

NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351

G

phospholipase A2 group IB

susceptibility

NCBI chr12:117,896,729...117,900,946
Ensembl chr12:121,270,082...121,275,740

G

placenta associated 8

associated with obesity

NCBI chr 4:41,089,847...41,115,061
Ensembl chr 4:46,943,940...46,964,131

G

pleckstrin homology domain containing S1

associated with obesity;

NCBI chr10:110,350,571...110,382,677
Ensembl chr10:113,784,348...113,813,542

G

perilipin 2

associated with Obesity

NCBI chr 9:18,928,455...18,951,132
Ensembl chr 9:19,421,928...19,462,222

G

phospholipid transfer protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,237,434...42,251,189
Ensembl chr20:43,324,609...43,337,999

G

pro-melanin concentrating hormone

NCBI chr12:99,783,925...99,785,292
Ensembl chr12:103,181,497...103,182,616

G

paraoxonase 1

DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001)

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: therapeutic

PMID:16168052 PMID:19322024 PMID:21324916

Ensembl chr22:45,218,364...45,302,970

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: therapeutic
DNA:nonsense mutation

PMID:12118251 PMID:16168052 PMID:21354099 PMID:21484566

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

PPARG coactivator 1 alpha

treatment

mRNA:decreased expression:liver (rat)
DNA:missense mutation:cds:p.G482S rs8192678 (human)

PMID:22658649 PMID:23449621 PMID:26394137

RGD:329955565 RGD:7241821 RGD:7242170

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

PPARG coactivator 1 beta

treatment

PMID:16896940 PMID:26394137

RGD:1642499 RGD:329955565

NCBI chr 5:145,154,517...145,315,567
Ensembl chr 5:151,203,088...151,278,837

G

protein phosphatase 1 regulatory subunit 3A

ClinVar Annotator: match by term: Insulin resistance, susceptibility to

PMID:7581368 PMID:25741868

NCBI chr 7:105,831,567...105,873,793
Ensembl chr 7:118,529,362...118,571,770

G

peroxiredoxin 3

associated with obesity;

NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845

G

protein kinase AMP-activated catalytic subunit alpha 1

CTD Direct Evidence: marker/mechanism
associated with Obesity

PMID:19934007 PMID:22231922

NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505

G

protein kinase AMP-activated catalytic subunit alpha 2

susceptibility

DNA:SNPs
CTD Direct Evidence: marker/mechanism

PMID:16567511 PMID:19934007

NCBI chr 1:55,928,577...55,998,628
Ensembl chr 1:57,664,237...57,702,227

G

protein kinase cAMP-dependent type I regulatory subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

G

protein kinase C beta

NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203

G

protein kinase C delta

associated with Obesity;protein:increased activity:adipocyte
protein:altered localization:nucleus

PMID:12217885 PMID:15507533

RGD:1642527 RGD:729667

NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910

G

protein kinase C theta

associated with Obesity;protein:decreased expression:skeletal muscle
protein:altered localization:skeletal muscle

PMID:9000691 PMID:10923637

RGD:1625603 RGD:1625604

NCBI chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900

G

protein kinase C zeta

protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects

NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855

G

protein kinase D1

susceptibility

human gene in a mouse model

NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030

G

prolactin

associated with Hyperprolactinemia

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

protein arginine methyltransferase 7

ClinVar Annotator: match by term: Insulin resistance

PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392

NCBI chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
protein:increased activity:liver (human)
protein:increased expression, decreased acetylation:liver

PMID:18303120 PMID:18385463 PMID:24367090

RGD:127285595 RGD:2292521

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin D2 synthase

susceptibility

NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680

G

prostaglandin I2 synthase

protein:decreased activity:aorta (rat)

NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612

G

protein tyrosine kinase 2 beta

associated with Obesity

NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474

G

protein tyrosine phosphatase non-receptor type 1

ClinVar Annotator: match by term: Insulin resistance, susceptibility to

NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421

G

protein tyrosine phosphatase receptor type F

protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced

PMID:9218523 PMID:11309481

RGD:1642733 RGD:1642735

NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647

G

peptide YY

protein:decreased expression

NCBI chr17:13,390,801...13,442,536
Ensembl chr17:13,608,080...13,608,827

G

RB transcriptional corepressor 1

mRNA:decreased expression:adipose tissue

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

retinol binding protein 4

ameliorates
disease_progression

protein:decreased expression:blood serum (human)

PMID:21365528 PMID:29747616

RGD:329849113 RGD:329853304

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

RELA proto-oncogene, NF-kB subunit

protein:altered localization:soleus

PMID:18073321 PMID:18198644

RGD:2298857 RGD:2298860

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

resistin

CTD Direct Evidence: marker/mechanism

PMID:16493877 PMID:18789551

NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909

G

RRAD, Ras related glycolysis inhibitor and calcium channel regulator

NCBI chr16:47,236,886...47,240,799

G

stearoyl-CoA desaturase

treatment

NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776

G

selenoprotein P

CTD Direct Evidence: marker/mechanism

NCBI chr 5:67,570,087...67,582,192
Ensembl chr 5:72,619,607...72,627,213

G

serpin family A member 1

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

serpin family E member 1

treatment

mRNA:increased expression:white adipose tissue (rat)

PMID:19776253 PMID:26188590

RGD:11073726 RGD:8547949

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

serpin family F member 1

treatment

human protein in a rat model
associated with Hypertension

PMID:19073347 PMID:22714715 PMID:24288442

RGD:2312339 RGD:8642993 RGD:8655563

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

G

SHC adaptor protein 1

mRNA:increased expression:adipose tissue

NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008

G

sucrase-isomaltase

associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine

NCBI chr 3:161,961,038...162,104,054
Ensembl chr 3:170,057,750...170,154,502

G

sirtuin 1

treatment

associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:19996381 PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 More...

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

G

sirtuin 4

NCBI chr12:117,867,453...117,887,968
Ensembl chr12:121,241,112...121,261,777

G

solute carrier family 27 member 1

protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet

NCBI chr19:16,956,000...16,993,429
Ensembl chr19:17,929,785...17,966,171

G

solute carrier family 27 member 4

mRNA:increased expression:subcutaneous adipose tissue

NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077

G

solute carrier family 2 member 3

mRNA,protein:decreased expression:muscle

NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466

G

solute carrier family 2 member 4

associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD Direct Evidence: therapeutic

PMID:11947963 PMID:18778861

NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344

G

suppressor of cytokine signaling 1

associated with Diabetes Mellitus

NCBI chr16:10,196,432...10,198,205

G

suppressor of cytokine signaling 3

susceptibility

associated with Obesity
associated with Diabetes Mellitus

PMID:15240880 PMID:17295835

RGD:1625677 RGD:2313789

NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066

G

superoxide dismutase 2

CTD Direct Evidence: therapeutic

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

superoxide dismutase 3

associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma

NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781

G

sorbin and SH3 domain containing 1

susceptibility

NCBI chr10:91,922,292...92,172,339
Ensembl chr10:95,432,824...95,559,022

G

SRY-box transcription factor 6

NCBI chr11:16,053,730...16,488,566
Ensembl chr11:15,747,495...16,175,246

G

sequestosome 1

CTD Direct Evidence: therapeutic

NCBI chr 5:174,960,727...174,989,946
Ensembl chr 5:182,284,436...182,299,093

G

sterol regulatory element binding transcription factor 1

treatment
susceptibility

CTD Direct Evidence: marker/mechanism
associated with Fatty Liver;mRNA:increased expression:liver
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP

PMID:17241878 PMID:18692268 PMID:22658938 PMID:26394137

RGD:2308807 RGD:2308809 RGD:329955565

NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045

G

sterol regulatory element binding transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947

G

serine/threonine kinase 11

associated with obesity;protein:decreased expression:gastrocnemius

Ensembl chr19:1,188,537...1,210,677

G

steroid sulfatase

CTD Direct Evidence: therapeutic

Ensembl chr X:7,047,017...7,207,540

G

synapsin I

NCBI chr X:40,007,777...40,055,801

G

TBC1 domain family member 4

ClinVar Annotator: match by term: Insulin resistance

NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729

G

transcription factor 7 like 2

DNA:SNP (human)

NCBI chr10:109,541,524...109,759,499
Ensembl chr10:112,978,167...113,192,281

G

transferrin

protein:increased expression:plasma

NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476

G

transcription factor AP-2 beta

NCBI chr 6:50,376,157...50,406,740
Ensembl chr 6:51,635,899...51,664,691

G

thrombomodulin

associated with Diabetes Mellitus, Non-Insulin-Dependent

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

toll like receptor 4

severity

protein:increased expression:skeletal muscle
associated with Obesity

PMID:17426960 PMID:18633101 PMID:19675137

RGD:1620681 RGD:2312483 RGD:2312489

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

treatment

associated with obesity
associated with Obesity
CTD Direct Evidence: marker/mechanism

PMID:9832430 PMID:14764603 PMID:16202847 PMID:16493877 PMID:20943792 More...

RGD:10450578 RGD:14995428 RGD:1580214 RGD:1580312

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 11b

associated with obesity;protein:increased expression:serum

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

G

TNF receptor superfamily member 1A

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

tribbles pseudokinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:583,267...605,416
Ensembl chr20:359,879...375,486

G

TSC complex subunit 1

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

G

uncoupling protein 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human)

NCBI chr 4:132,921,033...132,930,714
Ensembl chr 4:144,230,858...144,240,178

G

uncoupling protein 2

DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)

NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185

G

uncoupling protein 3

DNA:polymorphism:promoter:-55C>T (human)

PMID:17571165 PMID:17870627

RGD:2313512 RGD:2313515

NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274

G

vascular cell adhesion molecule 1

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

vitamin D receptor

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

von Willebrand factor

protein:increased expression:plasma

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

G

X-box binding protein 1

treatment

CTD Direct Evidence: therapeutic

PMID:15486293 PMID:26394137 PMID:27325692

RGD:2326004 RGD:329955565

NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943

G

zinc finger CCCH-type containing 10

CTD Direct Evidence: therapeutic

NCBI chr12:32,792,504...32,810,418
Ensembl chr12:33,043,757...33,045,061

Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor

ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A

PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More...

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

G

lamin A/C

ClinVar Annotator: match by term: IRAN, TYPE A

PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More...

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

insulinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

protein:increased expression:pancreas, plasma

NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842

G

betacellulin

protein:increased expression:pancreas

NCBI chr 4:49,329,413...49,462,891
Ensembl chr 4:55,242,899...55,298,773

G

CD40 molecule

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

cut like homeobox 1

disease_progression
exacerbates

mRNA:increased expression:pancreas (mouse)
protein:increased expression:pancreas (human)

NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940

G

C-X-C motif chemokine ligand 12

protein:increased expression:pancreas

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

G

insulin

protein:altered expression:blood
protein:altered localization:pancreas

PMID:2565624 PMID:8175958

RGD:2317266 RGD:2317268

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

small ribosomal subunit protein uS19

G

menin 1

disease_progression

DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons

PMID:12941803 PMID:17961653 PMID:19208834 PMID:20138042

RGD:2317288 RGD:2317292 RGD:2317310

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

neural cell adhesion molecule 1

protein:increased expression:pancreas

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet
protein:increased expression:pancreatic B cell

PMID:8421107 PMID:12114701

RGD:2324976 RGD:2324977

NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722

G

transforming growth factor alpha

protein:increased expression:pancreas

NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461

G

transforming growth factor beta 1

mRNA, protein:decreased expression:pancreatic islet

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

Islet Cell Adenomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MAF bZIP transcription factor A

ClinVar Annotator: match by term: Islet cell adenomatosis

PMID:25741868 PMID:29339498 PMID:35406570

NCBI chr 8:140,178,322...140,181,152

islet cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX chromatin remodeler

disease_progression

protein:decreased expression:pancreas:

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

cyclin dependent kinase 4

protein:increased expression:pancreas, islet of Langerhans (human)

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

death domain associated protein

disease_progression

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

G

proprotein convertase subtilisin/kexin type 1

protein:increased expression:insulinoma (rat)

NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486

Islet Cell Tumor Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

farnesyltransferase, CAAX box, subunit beta

ClinVar Annotator: match by term: Chromaffinoma

NCBI chr14:45,568,511...45,643,952
Ensembl chr14:64,448,170...64,522,632

G

MYC associated factor X

ClinVar Annotator: match by term: Chromaffinoma

PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 More...

NCBI chr14:45,588,366...45,683,828
Ensembl chr14:64,535,120...64,562,671

G

myelin protein zero

ClinVar Annotator: match by term: Chromaffinoma

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

G

ret proto-oncogene

ClinVar Annotator: match by term: Chromaffinoma

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7704557 PMID:7824936 More...

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Chromaffinoma

NCBI chr11:56,729,314...56,746,075
Ensembl chr11:60,093,656...60,110,288

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Chromaffinoma

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Chromaffinoma

PMID:12807974 PMID:17468193 PMID:19454582 PMID:22703879 PMID:23342407 More...

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

transmembrane protein 127

ClinVar Annotator: match by term: Chromaffinoma

PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More...

NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Chromaffinoma

PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More...

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

Johanson-Blizzard syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness

PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More...

NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725

leucine-sensitive hypoglycemia of infancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy

PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 PMID:10204114 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: Leucine-induced hypoglycemia

PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

Mahvash disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucagon receptor

ClinVar Annotator: match by term: GCGR-related hyperglucagonemia

PMID:19657311 PMID:25695890 PMID:25741868 PMID:27933176 PMID:28492532 More...

NCBI chr17:76,205,023...76,220,171
Ensembl chr17:81,912,135...81,922,906

Meckel syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nephrocystin 3

ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7

PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More...

NCBI chr 3:129,753,399...129,795,300

Melanoma-Pancreatic Cancer Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome

PMID:2319082 PMID:2813514 PMID:5001868 PMID:7566978 PMID:7632931 More...

NCBI chr 9:21,803,862...21,831,322

Metabolic Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

susceptibility

DNA:SNP:exon:p.R230C (rs9282541) (human)

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

G

acetyl-CoA carboxylase alpha

ameliorates

mRNA:increased expression:liver (mouse)

PMID:27821167 PMID:29684438

RGD:329333017 RGD:401799622

NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651

G

acetyl-CoA carboxylase beta

mRNA:increased expression:liver (mouse)

NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847

G

acyl-CoA dehydrogenase very long chain

treatment

NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417

G

acetyl-CoA acetyltransferase 2

susceptibility

DNA:polymorphism

NCBI chr 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606

G

adiponectin, C1Q and collagen domain containing

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
associated with vascular diseases; protein:decreased expression:plasma

PMID:16793964 PMID:17618945 PMID:17893004 PMID:18162013 PMID:19690575 More...

RGD:2313234 RGD:5686407 RGD:5686428 RGD:5686800

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adrenoceptor beta 2

susceptibility

DNA:polymorphisms: :p.R16G, p.Q27E

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

angiotensinogen

mRNA, protein:increased expression:adipose tissue

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

susceptibility

DNA:snp:3' utr:c.5186A>C

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

aldolase, fructose-bisphosphate A

mRNA:increased expression:aorta

G

alkaline phosphatase, biomineralization associated

susceptibility

protein:increased expression:serum

NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688

G

apolipoprotein A1

protein:decreased expression:serum
protein:decreased expression:serum (human)

PMID:17217166 PMID:21410987

RGD:1601183 RGD:5508220

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein A2

protein:decreased expression:serum

NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959

G

apolipoprotein A5

susceptibility

DNA:polymorphism: :p.S19W (human)

NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286

G

apolipoprotein B

protein:increased expression:plasma

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

apolipoprotein C3

susceptibility

protein:increased expression:serum (human)
DNA:polymorphism:promoter:-482C>T, -455T>C

PMID:16298371 PMID:17416293

RGD:1601223 RGD:2306766

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

apolipoprotein M

protein:decreased expression:plasma

NCBI chr 6:31,313,543...31,319,374
Ensembl chr 6:32,206,514...32,209,249

G

ATM serine/threonine kinase

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATPase H+/K+ transporting non-gastric alpha2 subunit

NCBI chr13:5,972,372...6,004,411
Ensembl chr13:24,268,003...24,294,136

G

butyrylcholinesterase

protein:increased expression:serum

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

brain derived neurotrophic factor

NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239

G

bone gamma-carboxyglutamate protein

protein:decreased expression:serum

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

complement C3

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

calpain 10

DNA:polymorphism

NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169

G

cholecystokinin

protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767)

NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

PMID:16188961 PMID:18486454

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 5

protein:increased secretion:plasma (rat)

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

CD163 molecule

susceptibility

protein:increased expression:blood serum (human)

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD36 molecule (CD36 blood group)

DNA:SNPs: :multiple (human)

PMID:9916795 PMID:18305138

RGD:2307208 RGD:619666

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 ligand

protein:increased expression:serum

PMID:16423632 PMID:20006362

RGD:2314214 RGD:5490591

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

checkpoint kinase 2

mRNA:increased expression:heart left ventricle (rat)

NCBI chr22:9,757,038...9,811,171

G

class II major histocompatibility complex transactivator

DNA:polymorphism:promoter:-168A>G

NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485

G

C-reactive protein

CTD Direct Evidence: marker/mechanism

PMID:16644639 PMID:21357282

NCBI chr 1:135,062,102...135,064,402

G

cystatin C

protein:increased expression:serum (human)

NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425

G

cytochrome P450 family 11 subfamily B member 2

susceptibility

DNA:polymorphism:promoter:-344C>T (human)

NCBI chr 8:139,622,632...139,630,014
Ensembl chr 8:142,666,534...142,672,575

G

cytochrome P450 family 7 subfamily A member 1

ameliorates

NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037

G

discoidin domain receptor tyrosine kinase 1

NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455

G

diacylglycerol O-acyltransferase 1

treatment

NCBI chr 8:141,079,948...141,090,619
Ensembl chr 8:144,064,587...144,080,155

G

iodothyronine deiodinase 2

DNA:polymorphism: :p.T92A (human)

NCBI chr14:60,756,781...60,775,255

G

epoxide hydrolase 2

NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749

G

coagulation factor III, tissue factor

associated with Diabetes Mellitus, Non-Insulin-Dependent

NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050

G

fatty acid binding protein 2

DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India

NCBI chr 4:111,505,269...111,510,197
Ensembl chr 4:122,055,544...122,060,461

G

fatty acid binding protein 4

protein:increased expression:serum

NCBI chr 8:78,001,476...78,006,006
Ensembl chr 8:79,624,899...79,630,168

G

Fas associated via death domain

protein:increased expression:heart left ventricle

NCBI chr11:65,300,889...65,305,020

G

Fas cell surface death receptor

mRNA:increased expression:liver (rat)

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

fatty acid synthase

ameliorates

mRNA:increased expression:liver (mouse)

PMID:27821167 PMID:29684438 PMID:31353547

RGD:329333017 RGD:401799622 RGD:401850595

NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647

G

fibroblast growth factor 19

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,794,157...64,800,512
Ensembl chr11:68,085,306...68,090,028

G

fibroblast growth factor 21

treatment

NCBI chr19:45,755,466...45,758,472

G

FTO alpha-ketoglutarate dependent dioxygenase

DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human)
DNA:SNP: :rs9939973 (human)

PMID:21796137 PMID:32061761

RGD:329853776 RGD:329901771

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

glucose-6-phosphatase catalytic subunit 1

ameliorates

NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674

G

glucose-6-phosphate dehydrogenase

treatment

PMID:19374165 PMID:24868532

RGD:10449117 RGD:2307350

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

glucagon

ameliorates

NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155

G

GTP cyclohydrolase 1

treatment

NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393

G

glucokinase

ameliorates

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

glucokinase regulator

NCBI chr2A:27,497,938...27,530,650
Ensembl chr2A:27,587,077...27,613,927

G

gamma-glutamyltransferase 1

susceptibility

PMID:17095717 PMID:24847614

RGD:14747015 RGD:1601300

NCBI chr22:5,424,334...5,469,705

G

ghrelin and obestatin prepropeptide

ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to

PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868

NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723

G

G protein-coupled receptor 17

CTD Direct Evidence: marker/mechanism

NCBI chr2B:32,623,444...32,630,256
Ensembl chr2B:128,316,464...128,321,519

G

glutathione peroxidase 3

protein:increased expression:serum

NCBI chr 5:146,447,939...146,456,476

G

gelsolin

severity

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

glutathione S-transferase mu 1

Ensembl chr 1:127,979,238...128,010,411

G

histone deacetylase 3

NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322

G

hepatocyte growth factor

study in the Japanese population

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:33,807,171...33,816,603

G

3-hydroxy-3-methylglutaryl-CoA reductase

ameliorates

PMID:19461650 PMID:27821167 PMID:31353547

RGD:401799622 RGD:401850595 RGD:5508692

NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785

G

heme oxygenase 1

treatment

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

hepatocyte nuclear factor 4 alpha

Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2)

NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536

G

hydroxysteroid 11-beta dehydrogenase 1

disease_progression
susceptibility

mRNA:increased expression:ascending aorta,epicardial fat (human)
DNA:SNP:: (rs846910) (human)
DNA:SNP: (rs12086634)T>G (human)
DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human)

PMID:14697232 PMID:21622477 PMID:23007990 PMID:23869418 PMID:28750217

RGD:1625074 RGD:329901909 RGD:329901919 RGD:329901929 RGD:329901930

NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765

G

5-hydroxytryptamine receptor 2C

CTD Direct Evidence: marker/mechanism

PMID:17632216 PMID:18515891 PMID:19142101

NCBI chr X:103,673,172...103,999,133
Ensembl chr X:114,199,485...114,503,201

G

intercellular adhesion molecule 1

protein:increased expression:serum

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

isocitrate dehydrogenase (NADP(+)) 2

susceptibility

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

insulin like growth factor 2

DNA:insertion

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

insulin like growth factor binding protein 2

NCBI chr2B:103,893,724...103,925,318

G

interleukin 18

treatment

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum

PMID:16644639 PMID:19717152 PMID:24456735

RGD:4889401 RGD:8655985

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

interleukin 6 receptor

susceptibility

DNA:polymorphism: :p.D358A

NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089

G

inositol polyphosphate phosphatase like 1

CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs2276047,snp8(human)

NCBI chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846

G

insulin

CTD Direct Evidence: marker/mechanism

PMID:11274935 PMID:16259526

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

insulin receptor

ameliorates

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

G

insulin receptor substrate 1

ameliorates

protein:decreased expression:skeletal muscle

PMID:10842668 PMID:31353547

RGD:401850595 RGD:6482864

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

insulin receptor substrate 2

ameliorates

NCBI chr13:90,886,095...90,917,724

G

integrin subunit alpha V

NCBI chr2B:73,880,962...73,972,486
Ensembl chr2B:191,680,655...191,773,028

G

klotho

mRNA:decreased expression:kidney:

NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

G

lipopolysaccharide binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:34,670,128...34,703,046
Ensembl chr20:35,780,768...35,813,188

G

low density lipoprotein receptor

ameliorates

NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791

G

leptin

protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism

PMID:16793964 PMID:18515891 PMID:19462476 PMID:25380250

RGD:10053625 RGD:2311125

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

leptin receptor

DNA:mutations:cds: : (rat)
DNA:mutations::cds: : (rat)

PMID:10901178 PMID:28746409 PMID:32710530

RGD:401960103 RGD:401965413 RGD:401965414

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

lipase E, hormone sensitive type

mRNA:increased expression:liver (mouse)

NCBI chr19:39,289,162...39,315,067
Ensembl chr19:47,881,292...47,907,066

G

lipase G, endothelial type

NCBI chr18:42,942,132...42,972,112
Ensembl chr18:46,292,154...46,320,652

G

lamin A/C

DNA:SNP: :c.138747C>T (human)

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

cytochrome b-245 light chain

NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719

G

chymotrypsin-like elastase family member 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926

G

LDL receptor related protein 6

DNA:missense mutation:cds

NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973

G

LDL receptor related protein associated protein 1

susceptibility

associated with Coronary Disease;DNA:SNP:exon

NCBI chr 4:3,663,649...3,683,450
Ensembl chr 4:3,646,179...3,666,098

G

mitogen-activated protein kinase kinase 2

mRNA:decreased expression:blood, leukocyte (human)

NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933

G

MLX interacting protein like

ameliorates

Ensembl chr 7:80,745,765...80,776,153

G

myotubularin related protein 9

DNA:SNP: :rs2293855 (human)

NCBI chr 8:7,864,461...7,918,324

G

microsomal triglyceride transfer protein

ClinVar Annotator: match by term: Metabolic syndrome X

PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More...

NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107

G

nicotinamide phosphoribosyltransferase

protein:increased expression:plasma
DNA:repeats:intron

PMID:15922301 PMID:17556870

RGD:1642337 RGD:1642345

NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967

G

nei like DNA glycosylase 1

CTD Direct Evidence: marker/mechanism

PMID:16446448 PMID:17389588

NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474

G

nerve growth factor

NCBI chr 1:87,223,597...87,276,759

G

nicotinamide N-methyltransferase

mRNA,protein:increased expression,increased activity:adipose tissue (rat)

NCBI chr11:109,174,490...109,186,758
Ensembl chr11:113,016,613...113,029,581

G

nitric oxide synthase 3

treatment

ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to

PMID:28361419 PMID:28967023

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

NADPH oxidase 1

protein:increased expression, increased activity:peripheral blood mononuclear cell (human)

NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192

G

nuclear receptor subfamily 1 group H member 3

ameliorates

NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672

G

nuclear receptor subfamily 1 group I member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129

G

nuclear receptor subfamily 1 group I member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799

G

phosphoenolpyruvate carboxykinase 1

ameliorates

NCBI chr20:53,901,738...53,907,090
Ensembl chr20:55,179,429...55,184,920

G

proprotein convertase subtilisin/kexin type 9

ameliorates

NCBI chr 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456

G

phosphodiesterase 9A

treatment

NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681

G

phospholipase A2 group IVA

mRNA:decreased expression:liver

NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101

G

phospholipase A2 group VI

mRNA:decreased expression:liver

NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509

G

phospholipase A2 group VII

mRNA:increased expression:liver

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

plasminogen activator, tissue type

protein:increased expression:serum

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism
protein:decreased activity:serum

PMID:14602783 PMID:21573798

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

peroxisome proliferator activated receptor alpha

ameliorates

mRNA:decreased expression:liver (rat)

PMID:11934685 PMID:31353547

RGD:401850595 RGD:628329

Ensembl chr22:45,218,364...45,302,970

G

peroxisome proliferator activated receptor gamma

ameliorates
no_association

DNA:SNP: :p.P12A (human)

PMID:16183630 PMID:16186413 PMID:18959602 PMID:31353547

RGD:1580683 RGD:1580686 RGD:2301843 RGD:401850595

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

PPARG coactivator 1 alpha

mRNA:decreased expression:gastrocnemius muscle (rat)

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

protein kinase AMP-activated catalytic subunit alpha 2

ameliorates

NCBI chr 1:55,928,577...55,998,628
Ensembl chr 1:57,664,237...57,702,227

G

prolactin

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:liver

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

retinol binding protein 4

disease_progression

protein:increased expression:blood serum (human)
associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)

PMID:19003725 PMID:19339013

RGD:329845591 RGD:329853307

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

resistin

CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-420C>G (human)

PMID:17598818 PMID:18328350

NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909

G

stearoyl-CoA desaturase

ameliorates

NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776

G

secretogranin III

DNA:SNP: :rs3764220 (human)

NCBI chr15:30,619,990...30,658,668
Ensembl chr15:48,950,839...48,989,481

G

selectin P

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

serpin family A member 12

treatment

human protein in a mouse model

NCBI chr14:75,110,414...75,141,569
Ensembl chr14:94,442,931...94,473,779

G

serpin family E member 1

treatment

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

sex hormone binding globulin

CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum

PMID:16968811 PMID:17884445 PMID:17992261

NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552

G

SIM bHLH transcription factor 1

ClinVar Annotator: match by term: SIM1-associated metabolic syndrome

NCBI chr 6:98,221,476...98,301,215
Ensembl chr 6:102,104,783...102,181,062

G

sirtuin 1

treatment

CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)

PMID:20068143 PMID:21514307 PMID:25356430

RGD:10053569 RGD:9585758

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

G

solute carrier family 27 member 1

susceptibility

DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome

NCBI chr19:16,956,000...16,993,429
Ensembl chr19:17,929,785...17,966,171

G

solute carrier family 2 member 1

ameliorates

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

solute carrier family 2 member 4

ameliorates

NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344

G

sterol O-acyltransferase 2

susceptibility

DNA:SNPs

NCBI chr12:35,632,018...35,653,227
Ensembl chr12:36,413,954...36,434,074

G

superoxide dismutase 2

treatment

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

sterol regulatory element binding transcription factor 1

ameliorates
disease_progression

mRNA:increased expression:liver (rat)
protein:increased expression:liver (mouse)

PMID:11934685 PMID:29173234 PMID:31353547

RGD:401827867 RGD:401850595 RGD:628329

NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045

G

transferrin

susceptibility

protein:increased expression:serum

NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476

G

transforming growth factor beta 1

mRNA:increased expression:left heart ventricle

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

thrombomodulin

associated with Diabetic Nephropathies;protein:increased expression:plasma

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

tumor necrosis factor

treatment

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 1A

associated with obesity;protein:increased expression:plasma

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

tribbles pseudokinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:583,267...605,416
Ensembl chr20:359,879...375,486

G

uncoupling protein 2

mRNA:decreased expression:liver (rat)

NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185

G

uncoupling protein 3

treatment

NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274

G

vascular cell adhesion molecule 1

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

vascular endothelial growth factor A

protein:increased expression:plasma:

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

von Willebrand factor

protein:increased expression:plasma

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

Neonatal Hypoglycemia, Simulating Foetopathia Diabetica

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Neonatal hypoglycemia

PMID:10857971 PMID:16885549 PMID:17466004 PMID:21814221 PMID:25741868 More...

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

AKT serine/threonine kinase 2

ClinVar Annotator: match by term: Hypoglycemia, neonatal, simulating foetopathia diabetica

PMID:15166380 PMID:16722806 PMID:21518566 PMID:25741868 PMID:28492532

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

G

potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: Neonatal hypoglycemia

PMID:16609879 PMID:16885549 PMID:17446535 PMID:17466004 PMID:17635943 More...

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

neurohypophyseal diabetes insipidus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginine vasopressin

ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus

PMID:1740104 PMID:1840604 PMID:3390991 PMID:6132221 PMID:7714110 More...

NCBI chr20:3,169,094...3,172,900

non-functioning pancreatic endocrine tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:endocrine pancreas (human)

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

cyclin dependent kinase 4

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase 6

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

NCBI chr 7:84,603,419...84,835,082

opisthorchiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 3

NCBI chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729

pancreatic acinar cell adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

DNA:missense mutation, gene fusions:multiple (human)

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

SRC proto-oncogene, non-receptor tyrosine kinase

disease_progression

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

pancreatic adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor B1

mRNA:decreased expression:pancreas

NCBI chr 8:139,154,065...139,251,115
Ensembl chr 8:142,220,827...142,301,070

G

AKT serine/threonine kinase 3

severity

mRNA:increased expression:pancreas (human)

NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838

G

baculoviral IAP repeat containing 2

exacerbates

mRNA:increased expression:pancreas (human)

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

baculoviral IAP repeat containing 3

disease_progression

mRNA:increased expression:pancreas (human)

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pancreas (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

baculoviral IAP repeat containing 7

exacerbates

mRNA:increased expression:pancreas (human)

NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932

G

carbonyl reductase 4

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28166811 PMID:28492532

NCBI chr 4:161,103,477...161,235,840
Ensembl chr 4:173,282,162...173,309,905

G

cyclin D1

severity

protein:increased expression:pancreas (human)

NCBI chr11:64,737,006...64,750,353

G

cyclin dependent kinase 4

treatment

human cells in a mouse model

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase 6

treatment

human cells in a mouse model

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:7780957 PMID:8521414 PMID:8573142 PMID:8595405 PMID:8723678 More...

NCBI chr 9:21,803,862...21,831,322

G

catenin beta 1

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:9065402 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10192393 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

C-X-C motif chemokine receptor 4

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

E2F transcription factor 1

treatment

Human cells in a mouse model

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

GNAS complex locus

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More...

NCBI chr20:55,190,607...55,262,245

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

histidine rich glycoprotein

disease_progression

NCBI chr 3:183,701,069...183,712,365
Ensembl chr 3:192,168,299...192,180,539

G

Janus kinase 1

treatment

human cell line in a mouse model

NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

uncharacterized LOC100995589

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

NCBI chr2A:15,923,366...15,926,680

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

mitogen-activated protein kinase kinase 1

severity
treatment

protein:increased expression:pancreas (human)
human tissue in a mouse model

PMID:19513748 PMID:28849200

RGD:13838804 RGD:13838840

NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161

G

mitogen-activated protein kinase kinase 2

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:18042262 PMID:26619011

NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933

G

mitogen-activated protein kinase 1

severity

mRNA:increased expression:pancreas (human)

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mitogen-activated protein kinase 10

severity

DNA:SNP:intron: (rs2589506) (human)

NCBI chr 4:78,326,129...78,756,794
Ensembl chr 4:89,059,579...89,392,196

G

mitogen-activated protein kinase 8

exacerbates

protein:increased phosphorylation:pancreas (human)

NCBI chr10:45,806,748...45,936,362

G

mitogen-activated protein kinase 9

NCBI chr 5:175,437,167...175,495,469
Ensembl chr 5:182,748,381...182,795,135

G

mediator complex subunit 12

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

NCBI chr2A:15,925,130...15,931,605

G

nuclear factor kappa B subunit 1

severity

mRNA:increased expression:pancreas (human)

NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098

G

palladin, cytoskeletal associated protein

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:9536098 PMID:10454945 PMID:11474289 PMID:17194196 PMID:17415588 More...

NCBI chr 4:160,718,475...161,140,436

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

plasminogen activator, tissue type

mRNA:increased expression:pancreas (human)

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More...

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

G

Rac family small GTPase 1

treatment

human cells in a mouse model

NCBI chr 7:7,039,379...7,068,866

G

Raf-1 proto-oncogene, serine/threonine kinase

treatment

human cells in a mouse model

NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871

G

RAS like proto-oncogene B

treatment

human cells in a mouse model

NCBI chr2B:7,185,192...7,227,220
Ensembl chr2B:120,748,123...120,802,698

G

ralA binding protein 1

treatment

human cells in a mouse model

NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772

G

SMAD family member 4

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 More...

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

SMAD family member 7

severity

human cell and construct in a mouse model

NCBI chr18:42,306,324...42,337,214

G

signal transducer and activator of transcription 1

ameliorates

protein:increased expression:pancreas (human)

NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280

G

tumor protein p53

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Pancreatic adenocarcinoma

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086

G

vascular endothelial growth factor C

exacerbates

protein:increased expression:pancreas (human)

NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030

pancreatic adenosquamous carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor beta 2

ameliorates

human cells in a mouse model

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

pancreatic agenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr18:15,411,764...15,444,402

G

pancreatic and duodenal homeobox 1

ClinVar Annotator: match by term: Pancreatic agenesis, congenital | ClinVar Annotator: match by term: Pancreatic hypoplasia

PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 More...

NCBI chr13:9,199,572...9,206,202

G

pancreas associated transcription factor 1a

CTD Direct Evidence: marker/mechanism

PMID:15543146 PMID:22158542 PMID:24212882

NCBI chr10:23,356,165...23,359,579

Pancreatic Agenesis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pancreatic and duodenal homeobox 1

susceptibility

ClinVar Annotator: match by term: PDX1-Related Disorder | ClinVar Annotator: match by term: Pancreatic agenesis 1

PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 More...

NCBI chr13:9,199,572...9,206,202

Pancreatic Agenesis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 8 C10orf67 homolog

ClinVar Annotator: match by term: Pancreatic agenesis 2

NCBI chr10:23,366,945...23,516,413

G

pancreas associated transcription factor 1a

ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2

PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532

NCBI chr10:23,356,165...23,359,579

pancreatic cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-1,4-N-acetylglucosaminyltransferase

mRNA:increased expression:blood, mononuclear cell

NCBI chr 3:135,151,027...135,159,692
Ensembl chr 3:142,602,475...142,610,835

G

ATP binding cassette subfamily C member 2

mRNA, protein:increased expression:pancreas

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

ATP binding cassette subfamily C member 3

severity

mRNA:increased expression:pancreas

Ensembl chr17:49,603,268...49,659,318

G

ATP binding cassette subfamily C member 5

mRNA:increased expression:pancreas

NCBI chr 3:180,956,139...181,054,112
Ensembl chr 3:189,122,590...189,219,492

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

CTD Direct Evidence: marker/mechanism

PMID:19648918 PMID:20103627 PMID:26098869

NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324

G

angiotensin I converting enzyme

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

activin A receptor type 1

NCBI chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805

G

activin A receptor type 1B

NCBI chr12:36,765,655...36,811,355
Ensembl chr12:37,541,867...37,566,660

G

activin A receptor type 2A

NCBI chr2B:11,933,683...12,020,287
Ensembl chr2B:152,253,826...152,288,385

G

ADAM metallopeptidase domain 15

mRNA:increased expression:pancreas, epithelial cell

NCBI chr 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467

G

ADAM metallopeptidase domain 9

mRNA:increased expression:pancreas, epithelial cell

NCBI chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192

G

adhesion G protein-coupled receptor E5

protein:increased expression:pancreas

NCBI chr19:13,944,894...13,972,041
Ensembl chr19:14,788,568...14,815,663

G

adrenomedullin

disease_progression

PMID:16841081 PMID:17363587

RGD:2325317 RGD:2325318

NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842

G

advanced glycosylation end-product specific receptor

protein:decreased expression:serum

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

angiotensin II receptor type 2

mRNA:increased expression:pancreas

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:increased expression:pancreas

PMID:12203118 PMID:25826687

NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171

G

AKT serine/threonine kinase 1

treatment
severity

human cells in a mouse model
protein:increased phosphorylation:pancreas (human)

PMID:11595724 PMID:20697673

RGD:13450953 RGD:13452388

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

albumin

disease_progression

PMID:18154768 PMID:20508721

RGD:2325675 RGD:2325678

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

aldehyde dehydrogenase 1 family member A1

protein:decreased expression:pancreas

NCBI chr 9:51,737,305...51,916,648
Ensembl chr 9:71,680,890...71,814,085

G

aldehyde dehydrogenase 2 family member

susceptibility

DNA:polymorphism: :p.E504K (human)
DNA:polymorphism (human)

PMID:15714130 PMID:19068087

RGD:2325313 RGD:2325694

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

G

arachidonate 12-lipoxygenase, 12R type

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029

G

arachidonate 5-lipoxygenase

protein:increased expression:pancreas
CTD Direct Evidence: marker/mechanism

PMID:12163367 PMID:12481414 PMID:30258081

RGD:2317523 RGD:2317524

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

angiogenin

disease_progression

mRNA, protein:increased expression:pancreas, serum

NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393

G

annexin A1

protein:increased expression:pancreas

PMID:17974280 PMID:19173988

RGD:2325722 RGD:2325723

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

annexin A10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:160,297,246...160,394,825
Ensembl chr 4:172,412,718...172,472,033

G

apoptotic peptidase activating factor 1

mRNA:increased expression:pancreas

NCBI chr12:96,224,515...96,311,246
Ensembl chr12:99,637,622...99,726,939

G

APC regulator of WNT signaling pathway

DNA:mutation, loss of heterozygosity
DNA:deletions (human)

PMID:1423316 PMID:7478622

RGD:2317207 RGD:2317208

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

apolipoprotein A1

protein:decreased expression:serum
protein:increased expression:pancreas

PMID:17312459 PMID:17332923

RGD:2325757 RGD:2325758

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein E

protein:increased expression:pancreas (human)

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

actin related protein 2/3 complex subunit 1A

DNA:amplification (human)

NCBI chr 7:91,299,559...91,339,729
Ensembl chr 7:104,801,399...104,841,590

G

artemin

disease_progression

mRNA:increased expression:pancreas

PMID:19304517 PMID:20395845

RGD:2325815 RGD:2325817

NCBI chr 1:43,233,097...43,239,044

G

ATM serine/threonine kinase

susceptibility

DNA:SNP:exon:rs1801516(human)
DNA:SNP:intron:rs664677 (human)
DNA:SNP: :60G>A(human)
CTD Direct Evidence: marker/mechanism

PMID:16520463 PMID:18381943 PMID:19147782 PMID:26098866 PMID:26098869

RGD:2317234 RGD:2317363 RGD:2317367

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATR serine/threonine kinase

DNA:SNP: :340C>T (human)

NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

AXL receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747

G

beta-1,3-galactosyltransferase 5

mRNA:increased expression:pancreas

NCBI chr21:25,909,993...26,027,130
Ensembl chr21:39,346,707...39,350,305

G

BCL2 associated agonist of cell death

treatment

human cells in a mouse model

NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257

G

BAG cochaperone 3

mRNA:increased expression:pancreas

NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964

G

BAG cochaperone 4

mRNA:increased expression:pancreas

NCBI chr 8:37,479,231...37,515,303
Ensembl chr 8:34,656,000...34,692,666

G

BRCA1 associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BCAR1 scaffold protein, Cas family member

CTD Direct Evidence: marker/mechanism

NCBI chr16:55,798,578...55,838,448
Ensembl chr16:75,150,122...75,188,775

G

BCL2 like 1

severity

human gene in a mouse model
CTD Direct Evidence: marker/mechanism

PMID:16904634 PMID:17941720

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

BH3 interacting domain death agonist

NCBI chr22:1,164,787...1,205,051
Ensembl chr22:16,594,186...16,632,844

G

B-Raf proto-oncogene, serine/threonine kinase

disease_progression

human gene in a mouse model

PMID:18490924 PMID:22628411 PMID:22871572

RGD:13451537 RGD:13461863 RGD:13462040

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4
ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4

PMID:7545954 PMID:7795652 PMID:7837387 PMID:7894491 PMID:7894492 More...

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

BRCA2 DNA repair associated

susceptibility

ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2
ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2
DNA:mutations: :

ClinVar
RGD
OMIM

PMID:251866 PMID:278235 PMID:2200631 PMID:8075631 PMID:8524414 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

basigin (Ok blood group)

CTD Direct Evidence: marker/mechanism

Ensembl chr19:539,815...551,456

G

BUB1 mitotic checkpoint serine/threonine kinase B

protein:altered localization:pancreas

NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648

G

calcium binding protein 39

disease_progression

NCBI chr2B:117,965,688...118,074,063
Ensembl chr2B:236,809,549...236,870,646

G

calcyclin binding protein

disease_progression

mRNA, protein:increased expression:pancreas

NCBI chr 1:150,511,021...150,522,369
Ensembl chr 1:154,210,001...154,220,583

G

cyclase associated actin cytoskeleton regulatory protein 1

disease_progression

mRNA, protein:increased expression:pancreas

NCBI chr 1:39,325,715...39,358,365
Ensembl chr 1:40,651,262...40,683,777

G

calpain 10

susceptibility

DNA:SNP:intron:rs3792267 (human)

NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169

G

caspase 8

susceptibility

DNA:SNP: :rs1045485 (human)
DNA:deletion, insertion:promoter (human)

PMID:18483392 PMID:19843670

RGD:2315744 RGD:2317230

NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468

G

caspase 9

susceptibility
treatment

DNA:snp:promoter:g.-1263A>G (human)

PMID:19209030 PMID:20357690

RGD:13451540 RGD:13462046

NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266

G

catalase

disease_progression

protein:decreased expression:pancreas

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

carbonyl reductase 4

ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1

PMID:25741868 PMID:28492532

NCBI chr 4:161,103,477...161,235,840
Ensembl chr 4:173,282,162...173,309,905

G

cholecystokinin A receptor

mRNA:increased expression:pancreas

PMID:8222074 PMID:10457335

RGD:4110817 RGD:4110822

NCBI chr 4:20,881,340...20,890,986
Ensembl chr 4:26,157,702...26,166,773

G

cholecystokinin B receptor

susceptibility
disease_progression

mRNA:increased expression:pancreas

PMID:1458479 PMID:8222074 PMID:8302799 PMID:15688412

RGD:4110821 RGD:4110822 RGD:4110823 RGD:4110829

NCBI chr11:6,393,435...6,405,821
Ensembl chr11:6,075,816...6,088,145

G

C-C motif chemokine ligand 20

CTD Direct Evidence: marker/mechanism

PMID:10225458 PMID:30603057

NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225

G

C-C motif chemokine ligand 5

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

cyclin D1

treatment
disease_progression

human cells in a mouse model
mRNA, protein:increased expression:pancreas (mouse)

PMID:11159909 PMID:17541034 PMID:22722256

RGD:13451541 RGD:13452385 RGD:13462059

NCBI chr11:64,737,006...64,750,353

G

cyclin G1

treatment

human cells in mouse model

NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

G

C-C motif chemokine receptor 4

protein:increased expression:pancreas

NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564

G

C-C motif chemokine receptor 5

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

CD44 molecule (IN blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009

G

cell division cycle 42

severity

mRNA, protein:increased expression:pancreas (human)

NCBI chr 1:21,245,970...21,286,210

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

G

cyclin dependent kinase 4

disease_progression
susceptibility

protein:increased expression:islet of Langerhans, nucleus (rat)
protein:increased expression:pancreas (mouse)
protein:increased expression:islet of Langerhans (human)

PMID:11159909 PMID:22477723 PMID:22761470 PMID:24531709

RGD:13452384 RGD:13452385 RGD:13452386 RGD:13452387

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism
DNA:mutations:exon

PMID:10627132 PMID:18772397 PMID:26098869

NCBI chr 9:21,803,862...21,831,322

G

CASP8 and FADD like apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045

G

CF transmembrane conductance regulator

onset
no_association

PMID:16227367 PMID:17072959

RGD:2317156 RGD:2317157

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

checkpoint kinase 1

disease_progression

DNA:SNP: :35G>A (human)

NCBI chr11:120,446,352...120,478,207
Ensembl chr11:124,359,218...124,390,981

G

claudin 4

PMID:19555390 PMID:19793693

RGD:2317580 RGD:2317583

Ensembl chr 7:80,983,832...80,984,461

G

CLPTM1 regulator of GABA type A receptor forward trafficking

CTD Direct Evidence: marker/mechanism

NCBI chr19:41,901,649...41,940,476
Ensembl chr19:50,506,886...50,545,204

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,017,141...86,044,889

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

cytochrome P450 family 17 subfamily A member 1

susceptibility

DNA:transition:5' utr:-34T>C rs743572 (human)

NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514

G

death domain associated protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

G

discoidin domain receptor tyrosine kinase 1

treatment

NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455

G

dihydropyrimidine dehydrogenase

disease_progression

CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreas

PMID:17443278 PMID:18309485 PMID:19020767 PMID:20072795

RGD:2317629 RGD:2317630

NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100

G

dual specificity tyrosine phosphorylation regulated kinase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987

G

E2F transcription factor 1

treatment

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

EGF containing fibulin extracellular matrix protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500

G

epidermal growth factor

disease_progression

protein:increased expression:pancreas

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

PMID:17452677 PMID:27720938

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

epithelial cell adhesion molecule

CTD Direct Evidence: marker/mechanism

NCBI chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038

G

EPH receptor A3

NCBI chr 3:89,261,166...89,629,010
Ensembl chr 3:91,369,239...91,739,056

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

DNA:snp:3' utr:c.*197G>T (rs3212986) (human)

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

ERCC excision repair 2, TFIIH core complex helicase subunit

treatment

pancreatic adenocarcinoma;DNA:SNPs: :rs1799793,rs1052555(human)
DNA,protein:SNPs:exons:rs1799793,rs1052559

PMID:16458430 PMID:18544627 PMID:21404106

RGD:11252206 RGD:2317223 RGD:2317228

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ERCC excision repair 4, endonuclease catalytic subunit

pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human)

NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496

G

ETAA1 activator of ATR kinase

CTD Direct Evidence: marker/mechanism

NCBI chr2A:67,455,668...67,470,509
Ensembl chr2A:68,578,554...68,591,534

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

protein:increased expression:pancreas

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

FA complementation group A

DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human)

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

FA complementation group C

DNA:nonsense mutation (human)

PMID:15695377 PMID:16243825

RGD:2317238 RGD:2317239

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

G

FA complementation group G

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

Fas ligand

severity
resistance

DNA:polymorphism:promoter:-844>>T (human)

PMID:11115536 PMID:12370548 PMID:18483392

RGD:2315744 RGD:2317744 RGD:2317745

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

fibroblast growth factor 13

CTD Direct Evidence: marker/mechanism

NCBI chr X:127,764,648...128,353,928
Ensembl chr X:138,023,016...138,103,217

G

fibroblast growth factor 2

severity

protein:increased expression:bile
mRNA:increased expression:pancreas

PMID:9293890 PMID:11478488 PMID:11562741 PMID:12670449

RGD:2317759 RGD:2317760 RGD:2317762 RGD:2317765

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

fms related receptor tyrosine kinase 3 ligand

NCBI chr19:46,486,169...46,499,008

G

forkhead box P1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173

G

fascin actin-bundling protein 1

severity

protein:increased expression:pancreas

NCBI chr 7:5,848,902...5,862,756

G

FXYD domain containing ion transport regulator 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,036,936...32,070,374

G

growth arrest and DNA damage inducible alpha

CTD Direct Evidence: therapeutic

NCBI chr 1:66,925,063...66,928,222
Ensembl chr 1:68,880,912...68,884,188

G

glial cell derived neurotrophic factor

severity

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

GNAS complex locus

NCBI chr20:55,190,607...55,262,245

G

golgi membrane protein 1

NCBI chr 9:38,823,820...38,910,984
Ensembl chr 9:83,005,832...83,080,202

G

glutathione S-transferase pi 1

susceptibility

DNA:SNP:cds:p.I105V (rs1695) (human)

PMID:19536452 PMID:19786118

RGD:2317804 RGD:2317805

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

hepatocyte growth factor

protein:increased expression:serum

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

heparan sulfate-glucosamine 3-sulfotransferase 2

DNA:hypermethylation:promoter (human)

NCBI chr16:15,195,577...15,297,155
Ensembl chr16:23,067,554...23,168,609

G

heat shock protein family B (small) member 1

disease_progression

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

intercellular adhesion molecule 1

mRNA, protein:increased expression:pancreas

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interferon gamma

protein:increased expression:plasma

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin like growth factor 1

susceptibility

DNA:polymorphism (human)

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

PMID:14559833 PMID:19732452 PMID:19885860

RGD:2317640 RGD:2317642 RGD:2317651

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 10

disease_progression
susceptibility

protein:increased expression:serum
DNA:polymorphism: :-1082G>A (human)

PMID:17235586 PMID:19250218 PMID:30304975 PMID:30610790

RGD:14975253 RGD:14975257 RGD:2317653 RGD:2317655

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 13

disease_progression

protein:increased expression:pancreas

PMID:12808442 PMID:18758789

RGD:2317669 RGD:2317670

NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

G

interleukin 13 receptor subunit alpha 2

treatment

NCBI chr X:104,092,993...104,146,062
Ensembl chr X:114,597,077...114,635,253

G

interleukin 1 alpha

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

susceptibility

protein:increased expression:serum (human)
DNA:polymorphisms:promoter:-511C>T, -31T>C (human)

PMID:7787209 PMID:19251436

RGD:2311069 RGD:2317215

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 2

treatment

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 24

CTD Direct Evidence: therapeutic

NCBI chr 1:182,500,680...182,507,098
Ensembl chr 1:186,779,207...186,785,928

G

interleukin 3

protein:increased expression:serum

NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213

G

interleukin 4

disease_progression

protein:increased expression:blood

PMID:10404069 PMID:12097255 PMID:19957810

RGD:2317261 RGD:2317265 RGD:2317267

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 4 receptor

disease_progression

protein:increased expression:pancreas

Ensembl chr16:27,642,702...27,737,445

G

interleukin 6

disease_progression

PMID:30304975 PMID:30610790

RGD:14975253 RGD:14975257

NCBI chr 7:23,415,922...23,420,767

G

integrin linked kinase

DNA:mutations:exon

NCBI chr11:6,735,735...6,742,922
Ensembl chr11:6,418,717...6,425,788

G

inositol polyphosphate-4-phosphatase type II B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:134,405,934...135,213,851
Ensembl chr 4:145,706,307...146,141,029

G

insulin

susceptibility
disease_progression

associated with Diabetes Mellitus, Non-Insulin-Depend
DNA:Polymorphism:promoter:-23 HphI (human)

PMID:19152242 PMID:19375425 PMID:19572116 PMID:19628082

RGD:2317245 RGD:2317247 RGD:2317250 RGD:2317253

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

integrin subunit alpha 11

DNA:mutations:exon

NCBI chr15:47,260,931...47,390,062
Ensembl chr15:66,031,201...66,128,985

G

integrin subunit alpha 4

DNA:mutations:exon

NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203

G

integrin subunit alpha 9

DNA:mutations:exon

NCBI chr 3:37,349,120...37,722,572
Ensembl chr 3:37,651,395...38,006,363

G

kinase insert domain receptor

CTD Direct Evidence: therapeutic

PMID:12385004 PMID:19930156

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KLF transcription factor 5

CTD Direct Evidence: marker/mechanism

G

KRAS proto-oncogene, GTPase

disease_progression

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

L1 cell adhesion molecule

treatment

NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228

G

lactate dehydrogenase A

CTD Direct Evidence: marker/mechanism

NCBI chr11:18,432,347...18,445,694
Ensembl chr11:18,115,250...18,128,400

G

DNA ligase 3

resistance

DNA:SNP:intron:rs 2074522 (human)

NCBI chr17:21,776,483...21,805,706
Ensembl chr17:22,074,046...22,095,220

G

DNA ligase 4

susceptibility

associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human)

NCBI chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555

G

alcohol dehydrogenase 1C

DNA:polymorphism: :p.R272Q (human)

NCBI chr 4:91,756,817...91,773,056
Ensembl chr 4:102,388,575...102,435,079

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

signal transducer CD24

CTD Direct Evidence: marker/mechanism

NCBI chr 6:104,783,720...104,789,509
Ensembl chr 6:108,655,624...108,657,847

G

cytochrome c

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

G

eukaryotic initiation factor 4A-III

protein:increased expression:serum (human)

NCBI chr17:74,221,793...74,233,738

G

lumican

disease_progression

DNA:SNP: :rs2268578 (human)

PMID:17671699 PMID:19843670

RGD:2317230 RGD:2317682

NCBI chr12:88,636,825...88,644,665
Ensembl chr12:91,952,277...91,960,388

G

lymphocyte antigen 6 family member E

CTD Direct Evidence: marker/mechanism

G

mesencephalic astrocyte derived neurotrophic factor

no_association

DNA:point mutations, deletions:cds:multiple (human)
DNA:polymorphisms: :multiple (human)

PMID:9174057 PMID:17072959

RGD:2317157 RGD:2325804

NCBI chr 3:51,315,948...51,320,022
Ensembl chr 3:52,548,933...52,554,343

G

mitogen-activated protein kinase kinase 4

DNA:mutations:exon

NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909

G

menin 1

associated with Neuroendocrine Tumors; protein:increased expression:multiple organs
CTD Direct Evidence: marker/mechanism

PMID:17278096 PMID:17961653 PMID:21252315

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

MET proto-oncogene, receptor tyrosine kinase

severity

protein:increased expression:pancreas (rat)
mRNA:increased expression:pancreas (human)

PMID:9211490 PMID:15448002

RGD:2317235 RGD:2317613

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A

NCBI chr2A:100,573,320...100,692,840
Ensembl chr2A:99,533,831...99,641,579

G

O-6-methylguanine-DNA methyltransferase

protein:decreased expression:neuroendocrine tumor (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

marker of proliferation Ki-67

disease_progression

protein:increased expression:pancreas

PMID:20137856 PMID:20350215

RGD:2317703 RGD:2317704

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:pancreas
protein:increased activity:pancreatic juice

PMID:7635566 PMID:11961486 PMID:30603057

RGD:2325752 RGD:2325766

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

disease_progression

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
mRNA:increased expression:pancreas

PMID:7635566 PMID:18030366 PMID:18445772 PMID:19629003 PMID:22952646

RGD:2325766 RGD:2325831 RGD:2325849 RGD:2325854

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

myeloperoxidase

resistance

DNA:polymorphism:promoter:-463G>A (human)

NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111

G

mesothelin

associated with Pancreatic Disease; protein:increased expression:pancreas
CTD Direct Evidence: marker/mechanism

PMID:11751476 PMID:17019794 PMID:17785569 PMID:18281514 PMID:19843662

RGD:2326052 RGD:2326056 RGD:2326060 RGD:2326062

Ensembl chr16:777,146...783,449

G

methylthioadenosine phosphorylase

DNA, protein:deletion, decreased activity:pancreas:

NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism: :677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mechanistic target of rapamycin kinase

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility
no_association

DNA:Polymorphism: :rs1805087 (human)

PMID:16737574 PMID:18843018

RGD:2317118 RGD:2317120

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human)
DNA:polymorphism: :66A>G (human)

PMID:18515090 PMID:18843018

RGD:2317118 RGD:2325772

NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322

G

mucin 1, cell surface associated

disease_progression

protein:increased secretion:bile
protein:increased expression:pancreas

PMID:14654947 PMID:18039393 PMID:18383873 PMID:18575732 PMID:19055478 More...

RGD:2317984 RGD:2317987 RGD:2324622 RGD:2324635 RGD:2324637 RGD:2324639

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 16, cell surface associated

protein:increased expression:serum

NCBI chr19:8,416,393...8,568,418

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:pancreas
mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:pancreas

PMID:11751498 PMID:16274046 PMID:17406026 PMID:17595659 PMID:20303649

RGD:2324891 RGD:2324914 RGD:2324922 RGD:2324923 RGD:2324931

NCBI chr 3:193,050,895...193,114,931

G

mucin 5AC, oligomeric mucus/gel-forming

protein:increased expression:pancreas
protein:increased glycosylation:serum

PMID:14654947 PMID:19377061

RGD:2317984 RGD:2325129

NCBI chr11:1,191,223...1,234,373

G

mucin 6, oligomeric mucus/gel-forming

protein:increased expression: :

NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:22024988 PMID:25961927

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

nucleosome assembly protein 1 like 1

human gene in a mouse model

NCBI chr12:73,549,887...73,589,621
Ensembl chr12:76,402,906...76,441,815

G

N-acetyltransferase 1

susceptibility

DNA:polymorphism (human)
DNA:polymorphisms,haplotype: :

PMID:18006927 PMID:18499698

RGD:2317168 RGD:2317170

NCBI chr 8:17,425,852...17,439,684
Ensembl chr 8:14,386,481...14,392,462

G

N-acetyltransferase 2

susceptibility

DNA:polymorphism (human)

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

neural cell adhesion molecule 1

disease_progression
severity

PMID:10374842 PMID:11249065

RGD:2326074 RGD:2326075

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

NFKB inhibitor alpha

CTD Direct Evidence: therapeutic

NCBI chr14:16,155,331...16,158,588

G

nerve growth factor receptor

severity

mRNA:increased expression:tumor:associated with longer overall survival

NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966

G

nitric oxide synthase 2

disease_progression

protein:increased expression:pancreas

PMID:11196200 PMID:11687972 PMID:15165031

RGD:2325248 RGD:2325257 RGD:2325262

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

notch receptor 1

disease_progression

protein:increased expression:pancreas

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

nuclear receptor subfamily 4 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,703,903...36,740,211
Ensembl chr12:37,480,300...37,501,188

G

nuclear receptor subfamily 5 group A member 2

CTD Direct Evidence: marker/mechanism

PMID:20101243 PMID:26098869

NCBI chr 1:175,625,140...175,775,955
Ensembl chr 1:179,934,573...180,083,607

G

neuropilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,298,918...33,456,466
Ensembl chr10:33,883,173...34,039,648

G

neurotrophic receptor tyrosine kinase 1

severity

mRNA:increased expression:tumor:associated with increased tumor aggressiveness

Ensembl chr 1:136,007,476...136,047,355

G

NUF2 component of NDC80 kinetochore complex

treatment

mRNA:increased expression:pancreas

PMID:25370920 PMID:26045769

RGD:11058437 RGD:28867232

NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364

G

8-oxoguanine DNA glycosylase

disease_progression

DNA:polymorphism: :2657G>A (human)
DNA:polymorphism: :rs1052133 (human)

PMID:17230526 PMID:18559563

RGD:2317130 RGD:2317132

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

partner and localizer of BRCA2

susceptibility

ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3
ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3
ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3
ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3

PMID:100849 PMID:16199547 PMID:17200668 PMID:17200671 PMID:17200672 More...

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

palladin, cytoskeletal associated protein

susceptibility

ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3
ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1

PMID:10454945 PMID:11474289 PMID:17194196 PMID:17415588 PMID:24033266 More...

NCBI chr 4:160,718,475...161,140,436

G

platelet derived growth factor receptor alpha

mRNA:increased expression:pancreas

PMID:7665222 PMID:14695158

RGD:2324850 RGD:2324851

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

G

pancreatic and duodenal homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:19077462 PMID:25086665 PMID:26098869

NCBI chr13:9,199,572...9,206,202

G

profilin 1

NCBI chr17:4,993,853...4,996,811
Ensembl chr17:4,981,765...4,985,022

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

DNA polymerase beta

disease_progression

DNA:polymorphisms: :165A>G, 2133T>C (human)

NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464

G

peroxisome proliferator activated receptor delta

disease_progression

NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132

G

peroxisome proliferator activated receptor gamma

susceptibility

DNA:polymorphism: :p.P12A (human)
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:11034103 PMID:11741176 PMID:19152448 PMID:19436234

RGD:2317460 RGD:2317462

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

patched 1

CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreas

PMID:19077462 PMID:19396459

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin-endoperoxide synthase 2

susceptibility

mRNA, protein:increased expression:pancreas
DNA:SNPs: :-1195A > G, -765G > C (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :-1195A>A ,-765G>C (human)

PMID:10485483 PMID:10657949 PMID:15705899 PMID:16820089 PMID:19062735 More...

RGD:2317175 RGD:2317179 RGD:2317184 RGD:5135527

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

G

RAB, member of RAS oncogene family like 3

susceptibility

ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 5

NCBI chr 3:117,794,224...117,850,184
Ensembl chr 3:124,707,984...124,748,983

G

RAD51 recombinase

protein:increased expression:pancreas (rat)

NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207

G

RAD54 like

DNA:SNP:exon:rs1048771 (human)

NCBI chr 1:45,549,586...45,581,711
Ensembl chr 1:46,905,598...46,936,259

G

RAP1 GTPase activating protein

mRNA:decreased expression:pancreas (human)
CTD Direct Evidence: marker/mechanism

PMID:16424023 PMID:22614916

NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

RecQ like helicase

DNA:SNP:3'utr:rs13035 (human)
DNA:SNPs:introns

PMID:16540687 PMID:18422747 PMID:19768149

RGD:2317365 RGD:2317369 RGD:2317370

NCBI chr12:64,796,383...64,829,165
Ensembl chr12:67,400,315...67,432,724

G

RELA proto-oncogene, NF-kB subunit

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

ret proto-oncogene

disease_progression

protein:increased expression:pancreas

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

rhomboid domain containing 1

CTD Direct Evidence: therapeutic

NCBI chr2B:114,041,381...114,245,220
Ensembl chr2B:232,897,487...233,057,578

G

ribonucleotide reductase regulatory subunit M2

NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640

G

RUNX family transcription factor 3

disease_progression

DNA:hypermethylation, loss of heterozygosity (human)

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

G

retinoid X receptor alpha

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

SEL1L adaptor subunit of SYVN1 ubiquitin ligase

NCBI chr14:62,050,695...62,111,489
Ensembl chr14:81,248,441...81,309,597

G

serpin family A member 1

disease_progression

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

splicing factor 3b subunit 4

mRNA, protein:decreased expression:pancreas (human)

NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610

G

SIN3-HDAC complex associated factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:54,914,625...54,960,258
Ensembl chr12:57,498,428...57,544,489

G

solute carrier family 1 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529

G

solute carrier family 29 member 1 (Augustine blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689

G

solute carrier organic anion transporter family member 2B1

mRNA:decreased expression:pancreas (human)

NCBI chr11:70,211,124...70,266,513
Ensembl chr11:73,515,433...73,570,410

G

SMAD family member 2

mRNA:increased expression:pancreas (human)

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

G

SMAD family member 3

DNA:mutations:exon

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

G

SMAD family member 4

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

SMAD family member 7

mRNA:increased expression:pancreas (human)

NCBI chr18:42,306,324...42,337,214

G

smoothened, frizzled class receptor

treatment

protein:increased expression:pancreas

PMID:19396459 PMID:19460966 PMID:22859707

RGD:150340554 RGD:2324910 RGD:2324978

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

synuclein gamma

NCBI chr10:83,383,566...83,391,064

G

SNW domain containing 1

susceptibility

DNA:snp:intron: T>A (human) (rs1477261)

NCBI chr14:58,271,830...58,315,773
Ensembl chr14:77,472,387...77,517,315

G

superoxide dismutase 1

protein:decreased expression:pancreas

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 2

susceptibility
disease_progression

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.A16V (human)
protein:decreased expression:pancreas

PMID:11328670 PMID:12499913 PMID:12700280 PMID:17895890 PMID:18205184

RGD:1581235 RGD:2317406 RGD:2317410

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

serine peptidase inhibitor Kazal type 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:143,273,137...143,287,745

G

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

somatostatin

CTD Direct Evidence: therapeutic

NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337

G

somatostatin receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484

G

somatostatin receptor 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:15259086 PMID:17625444 PMID:19917848

NCBI chr17:67,093,013...67,099,086
Ensembl chr17:72,553,506...72,554,615

G

somatostatin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr22:18,116,993...18,125,170
Ensembl chr22:35,954,232...35,955,488

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

PMID:22348037 PMID:23845849

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

serine/threonine kinase 11

Ensembl chr19:1,188,537...1,210,677

G

succinyl-CoA:glutarate-CoA transferase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,381,156...44,100,614
Ensembl chr 7:43,421,615...44,139,738

G

synaptonemal complex protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,565,888...87,701,530
Ensembl chr 1:122,614,520...122,754,137

G

transcription factor 7 like 2

DNA:mutations:exon

NCBI chr10:109,541,524...109,759,499
Ensembl chr10:112,978,167...113,192,281

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:25086665 PMID:26098869

Ensembl chr 5:1,300,960...1,338,872

G

tissue factor pathway inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:85,835,141...85,839,515
Ensembl chr 7:99,426,006...99,431,099

G

transforming growth factor alpha

mRNA, protein:increased expression:pancreas

PMID:1401070 PMID:17785207

RGD:2317468 RGD:2317473

NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461

G

transforming growth factor beta 1

disease_progression

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum

PMID:16933058 PMID:18787407 PMID:23992306

RGD:2325015 RGD:2325018

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta receptor 2

disease_progression

DNA:mutations:exon
protein:increased expresssion:pancreas
DNA:deletion, frameshift mutations (human)
mRNA:increased expresssion:pancreas

PMID:9365135 PMID:9850059 PMID:11866987 PMID:18772397

RGD:2317499 RGD:2317501 RGD:2317502 RGD:5490966

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:34,450,845...34,488,106
Ensembl chr20:35,561,819...35,599,042

G

thrombospondin 1

disease_progression

DNA:hypermethylation (human)

PMID:10766168 PMID:16757110 PMID:20203415

RGD:2325021 RGD:2325023 RGD:2325028

NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 10b

CTD Direct Evidence: therapeutic

NCBI chr 8:22,270,325...22,318,841
Ensembl chr 8:19,209,904...19,258,498

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137

G

tumor protein p53

CTD Direct Evidence: marker/mechanism
DNA:mutations:exon

PMID:18772397 PMID:23873029 PMID:26390243

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tumor protein p53 binding protein 1

NCBI chr15:22,364,696...22,472,499
Ensembl chr15:40,519,012...40,626,741

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

thymidine phosphorylase

CTD Direct Evidence: marker/mechanism

PMID:17443278 PMID:19671868

NCBI chr22:30,772,088...30,776,618

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320

G

uridine-cytidine kinase 2

protein:increased expression:pancreatic neoplasm (human)

NCBI chr 1:141,259,057...141,343,122
Ensembl chr 1:145,110,434...145,131,894

G

vascular cell adhesion molecule 1

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

vascular endothelial growth factor B

CTD Direct Evidence: marker/mechanism

NCBI chr11:59,591,750...59,595,926

G

von Hippel-Lindau tumor suppressor

associated with Hippel-Lindau Disease;DNA:missense mutation:exon:p.R238Q (human)
DNA:hypermethylation, deletion:promoter (human)

PMID:9488521 PMID:19690016

RGD:2325169 RGD:2325176

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

G

Wnt family member 9A

DNA:mutations:exon

NCBI chr 1:203,320,990...203,350,599
Ensembl chr 1:208,300,609...208,327,191

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

G

XPC complex subunit, DNA damage recognition and repair factor

DNA:polymorphism:intron:AF076952 (human)

NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377

G

exportin 1

exacerbates

protein:increased expression:pancreas (human)

NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793

G

exportin 5

mRNA:decreased expression:pancreas (mouse)

NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029

G

X-ray repair cross complementing 1

DNA:SNP:exon:rs1799782 (human)

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

X-ray repair cross complementing 2

DNA:SNP:exon:rs3218536 (human)
DNA:polymorphism: :p.R188H (human)

PMID:16540687 PMID:17986315

RGD:2317365 RGD:2317507

NCBI chr 7:144,229,031...144,256,854
Ensembl chr 7:156,378,685...156,406,516

G

X-ray repair cross complementing 3

DNA:SNP:cd:rs861539 (human)

NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037

G

zinc and ring finger 3

CTD Direct Evidence: marker/mechanism

PMID:25086665 PMID:26098869

NCBI chr22:9,891,021...10,109,147
Ensembl chr22:27,742,301...27,810,427

pancreatic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1B

ClinVar Annotator: match by term: Carcinoma of pancreas

NCBI chr12:36,765,655...36,811,355
Ensembl chr12:37,541,867...37,566,660

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:988733 PMID:1849795 PMID:3338800 PMID:8808599 PMID:9443866 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Carcinoma of head of pancreas | ClinVar Annotator: match by term: Carcinoma of pancreas

PMID:9150174 PMID:10667592 PMID:10667595 PMID:11802209 PMID:12566964 More...

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Carcinoma of pancreas

PMID:8665505 PMID:9150150 PMID:9361038 PMID:9536098 PMID:9585613 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:16116423 PMID:17033622 PMID:21964575 PMID:25330149 PMID:25741868 More...

NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:988733 PMID:1849795 PMID:3338800 PMID:8808599 PMID:9443866 More...

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

carbonyl reductase 4

ClinVar Annotator: match by term: Carcinoma of pancreas

PMID:17194196 PMID:28166811 PMID:28492532

NCBI chr 4:161,103,477...161,235,840
Ensembl chr 4:173,282,162...173,309,905

G

cyclin dependent kinase inhibitor 1A

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

cyclin dependent kinase inhibitor 2A

susceptibility

DNA:insertion:cds:p.R112_L113insR (human)

NCBI chr 9:21,803,862...21,831,322

G

chromodomain helicase DNA binding protein 3

disease_progression

protein:increased expression:pancreas

NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115

G

checkpoint kinase 2

ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:9536098 PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 More...

NCBI chr22:9,757,038...9,811,171

G

ERCC excision repair 4, endonuclease catalytic subunit

ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More...

NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496

G

FA complementation group E

ClinVar Annotator: match by term: Carcinoma of pancreas

PMID:11001585 PMID:17924555 PMID:21279724 PMID:25741868 PMID:26822949 More...

NCBI chr 6:35,012,076...35,027,018

G

FA complementation group G

ClinVar Annotator: match by term: Carcinoma of pancreas

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

heterogeneous nuclear ribonucleoprotein A2/B1

severity

protein:increased expression:pancreas (rat)

NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985

G

homeobox B13

ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:8756292 PMID:15964834 PMID:17138648 PMID:22236224 PMID:22714738 More...

NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598

G

kinase insert domain receptor

treatment

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

mechanistic target of rapamycin kinase

treatment

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

nibrin

ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More...

NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:17200668 PMID:17200671 PMID:17200672 PMID:20122277 PMID:20412113 More...

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

palladin, cytoskeletal associated protein

ClinVar Annotator: match by term: Carcinoma of pancreas

PMID:17194196 PMID:28166811 PMID:28492532

NCBI chr 4:160,718,475...161,140,436

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Carcinoma of pancreas

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

G

Raf-1 proto-oncogene, serine/threonine kinase

mRNA:increased expression:pancreas (rat)

NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871

G

RB binding protein 8, endonuclease

ClinVar Annotator: match by term: Carcinoma of pancreas

PMID:9811458 PMID:28492532

NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522

G

SMAD family member 4

ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:8653691 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More...

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:10362809 PMID:11430832 PMID:15188174 PMID:15800014 PMID:16287113 More...

Ensembl chr19:1,188,537...1,210,677

G

tumor protein p53

ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA

PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TSC complex subunit 1

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

Pancreatic Cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 beta

disease_progression

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Pancreatic cysts

NCBI chr16:604,366...605,560

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

DNA:deletion:exon:

PMID:17519956 PMID:18202188

RGD:14700917 RGD:14700921

NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309

pancreatic ductal adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anterior gradient 2, protein disulphide isomerase family member

protein:increased expression:pancreas

NCBI chr 7:17,446,275...17,489,802
Ensembl chr 7:16,773,281...16,785,879

G

calreticulin

ameliorates

human cells in mouse model
human cells in a mouse model

PMID:29072694 PMID:33028359

RGD:150520160 RGD:150521706

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

cyclin D1

severity

protein:increased expression:pancreas (human)
DNA:snp:exon:c.870G>A (human)

PMID:22939953 PMID:25470788

RGD:13462050 RGD:13462062

NCBI chr11:64,737,006...64,750,353

G

CD59 molecule (CD59 blood group)

disease_progression

protein:increased expression:blood (human)

NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157

G

cyclin dependent kinase 4

severity

protein:increased expression:pancreas, islet of Langerhans (human)

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

E2F transcription factor 1

severity

protein:increased expression:pancreatic ductal cell, nucleus (human)
DNA:amplification: : (human)

PMID:12650514 PMID:17233815 PMID:27573434

RGD:13838735 RGD:13838738 RGD:13838739

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

forkhead box M1

disease_progression

NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503

G

far upstream element binding protein 1

mRNA:increased expression:pancreatic duct (human)

NCBI chr 1:77,162,675...77,198,486

G

GLI pathogenesis related 2

disease_progression

protein:decreased expression:blood (human)

NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812

G

glutamic-oxaloacetic transaminase 1

treatment

human cells in a mouse model

NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178

G

heat shock protein family A (Hsp70) member 8

disease_progression

protein:decreased expression:blood (human)

NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773

G

inhibitor of nuclear factor kappa B kinase subunit beta

susceptibility

NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971

G

Janus kinase 1

mRNA:decreased expression:pancreatic ductal cell (human)

NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991

G

aflatoxin B1 aldehyde reductase member 2

protein:increased expression:pancreas

NCBI chr 1:18,262,631...18,270,783
Ensembl chr 1:19,309,471...19,317,227

G

complement factor H-related protein 3

disease_progression

protein:decreased expression:blood (human)

NCBI chr 1:172,355,204...172,389,914

G

mitogen-activated protein kinase 8

disease_progression
severity

protein:increased phosphorylation:pancreas (mouse)

PMID:23237571 PMID:28837246

RGD:14348974 RGD:14348975

NCBI chr10:45,806,748...45,936,362

G

placental growth factor

severity

associated with obesity

NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

mRNA, protein:increased expression:pancreas (human)

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

G

phosphoinositide-3-kinase regulatory subunit 2

severity

human cells in a mouse model

NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177

G

phospholipase D1

severity

protein:increased expression:pancreas (human)

NCBI chr 3:168,606,342...168,816,383
Ensembl chr 3:176,790,753...176,961,033

G

protein tyrosine phosphatase receptor type B

disease_progression

protein:decreased expression:blood (human)

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

protein tyrosine phosphatase receptor type M

disease_progression

protein:decreased expression:blood (human)

NCBI chr18:5,879,556...6,706,824
Ensembl chr18:8,206,677...9,030,286

G

Rac family small GTPase 1

mRNA, protein:increased expression:pancreas (mouse)
mRNA:increased expression:pancreas (human)

PMID:21684285 PMID:23334332

RGD:14392806 RGD:14392816

NCBI chr 7:7,039,379...7,068,866

G

RAS like proto-oncogene A

mRNA:increased expression:pancreas (human)

NCBI chr 7:44,528,146...44,611,431
Ensembl chr 7:44,559,380...44,580,495

G

S100 calcium binding protein A8

disease_progression

protein:increased expression:blood (human)

NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591

G

SMAD family member 2

severity

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

G

transforming growth factor beta 1

ameliorates

protein:decreased expression:pancreas (human)

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta 2

ameliorates

protein:decreased expression:pancreas (human)

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

G

transforming growth factor beta 3

ameliorates

protein:decreased expression:pancreas (human)

NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412

G

transforming growth factor beta receptor 1

ameliorates

human cell line in a mouse model

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

G

vascular endothelial growth factor D

protein:increased expression:blood serum (human)

NCBI chr X:7,972,227...8,011,263
Ensembl chr X:15,254,945...15,293,704

G

vanin 1

disease_progression

protein:increased expression:blood (human)

NCBI chr 6:130,459,268...130,491,167
Ensembl chr 6:134,566,117...134,598,784

pancreatic ductal carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

mRNA, protein:increased expression:pancreas

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

angiotensin converting enzyme 2

protein:decreased expression:pancreas

NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891

G

ADAM metallopeptidase domain 8

disease_progression

mRNA:increased expression:pancreas

Ensembl chr10:134,172,724...134,186,227

G

ADAM metallopeptidase domain 9

disease_progression

protein:altered localization:cytoplasm

NCBI chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192

G

anterior gradient 2, protein disulphide isomerase family member

mRNA:increased expression:pancreas

NCBI chr 7:17,446,275...17,489,802
Ensembl chr 7:16,773,281...16,785,879

G

angiotensin II receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

albumin

disease_progression

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

annexin A2

disease_progression

mRNA, protein:increased expression, altered localization:pancreas, plasma membrane

PMID:16450333 PMID:19260470

RGD:2317307 RGD:2325731

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

annexin A5

protein:increased expression:pancreas

NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972

G

apolipoprotein C1

G

arginase 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962

G

BMI1 proto-oncogene, polycomb ring finger

protein:increased expression:pancreas
protein:increased expression:exocrine pancreas:

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

G

chromosome 20 C19orf33 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr19:35,395,222...35,396,580
Ensembl chr19:43,969,247...43,970,601

G

calreticulin

protein:increased expression:pancreatic duct

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

chromobox 7

disease_progression

protein:decreased expression:pancreas

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

cholecystokinin A receptor

protein:decreased expression:pancreas
mRNA:increased expression:pancreatic duct

PMID:9239407 PMID:12851875

RGD:4110816 RGD:4110818

NCBI chr 4:20,881,340...20,890,986
Ensembl chr 4:26,157,702...26,166,773

G

cholecystokinin B receptor

protein:decreased expression:pancreas

NCBI chr11:6,393,435...6,405,821
Ensembl chr11:6,075,816...6,088,145

G

cyclin D1

severity

protein:increased expression:pancreas (human)

NCBI chr11:64,737,006...64,750,353

G

CD40 molecule

treatment

protein:increased expression:dendritic cell

PMID:20976171 PMID:21436454 PMID:23983255

RGD:11522743 RGD:5490301 RGD:5490524

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

cyclin dependent kinase 6

treatment

human cells in a mouse model

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase inhibitor 1A

disease_progression

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,803,862...21,831,322

G

claudin 4

Ensembl chr 7:80,983,832...80,984,461

G

C-X-C motif chemokine ligand 11

CTD Direct Evidence: marker/mechanism

NCBI chr 4:48,169,954...48,172,455
Ensembl chr 4:54,007,818...54,010,336

G

DNA methyltransferase 1

disease_progression

CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreas

PMID:19424621 PMID:29844410

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

deltex E3 ubiquitin ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:110,661,247...110,702,780
Ensembl chr12:114,046,700...114,085,372

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,389,228...54,425,655
Ensembl chr11:57,839,228...57,874,337

G

epidermal growth factor

disease_progression

protein:increased expression: :

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

Fas ligand

protein:increased expression:pancreas, liver

PMID:10547193 PMID:15375495

RGD:2317741 RGD:2317747

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

fibroblast growth factor 2

disease_progression

PMID:12717266 PMID:18704599

RGD:2317756 RGD:2317758

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:pancreas

NCBI chr 7:5,848,902...5,862,756

G

glycoprotein nmb

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,931,220...23,959,687
Ensembl chr 7:23,539,928...23,568,624

G

glutathione S-transferase pi 1

resistance

DNA:methylation: :
mRNA, protein:increased expression:pancreas

PMID:12488200 PMID:16537562 PMID:17265526

RGD:2317806 RGD:2317809 RGD:2317811

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

histone deacetylase 1

disease_progression

protein:increased expression:pancreas

NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410

G

HEAT repeat containing 1

treatment

NCBI chr 1:212,110,229...212,164,299
Ensembl chr 1:217,109,359...217,164,791

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

hes related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056

G

heat shock protein family A (Hsp70) member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,476,710...31,491,411

G

heat shock protein family A (Hsp70) member 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,488,882...31,491,412

G

insulin like growth factor 1

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

protein:increased expression:pancreas

PMID:14506643 PMID:14627343

RGD:2317649 RGD:2317652

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 4

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 4 receptor

protein:increased expression:pancreas

Ensembl chr16:27,642,702...27,737,445

G

insulin

Glucagon/insulin

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878

G

lysine demethylase 2B

severity

mRNA, protein:increased expression:pancreas (human)

NCBI chr12:119,027,633...119,183,779
Ensembl chr12:122,401,296...122,555,246

G

KIT ligand

CTD Direct Evidence: marker/mechanism

NCBI chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:25347530 PMID:30654191

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

keratin 7

disease_progression

NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341

G

L1 cell adhesion molecule

severity

protein:increased expression:pancreas (human)

NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228

G

mitogen-activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468

G

mitogen-activated protein kinase 3

treatment

human cells in mouse model

Ensembl chr16:30,489,362...30,498,017

G

minichromosome maintenance complex component 7

mRNA, protein:increased expression:pancreatic duct

NCBI chr 7:92,128,037...92,136,976
Ensembl chr 7:105,561,591...105,570,720

G

MDM2 proto-oncogene

severity
onset

protein:increased expression:pancreas (human)
DNA:snp:promoter, intron:IVS1+309T>G (human)

PMID:15810085 PMID:19752772

RGD:2317414 RGD:2317416

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

menin 1

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:pancreatic duct (human)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

O-6-methylguanine-DNA methyltransferase

susceptibility

protein:increased activity, increased expression:ductal adenocarcinoma (human)
DNA:missense mutation:cds:p.L84F rs12917 (human)

PMID:9393761 PMID:16844323

RGD:2317648 RGD:2317664

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

matrix metallopeptidase 2

severity

protein:increased expression:pancreas

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

protein:increased expression:blood
protein:increased expression:pancreas, serum

PMID:18706098 PMID:20332475

RGD:2325830 RGD:2325844

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mesothelin

disease_progression

protein:increased secretion:serum
CTD Direct Evidence: marker/mechanism
DNA:hypomethylation:5'UTR

PMID:12874021 PMID:14576474 PMID:19818733 PMID:21775916 PMID:25347530

RGD:2326055 RGD:2326065

Ensembl chr16:777,146...783,449

G

mucin 1, cell surface associated

disease_progression

protein:increased expression, altered localization:pancreas

PMID:14681945 PMID:18713982 PMID:19109152

RGD:2317983 RGD:2324616 RGD:2324633

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 3A, cell surface associated

disease_progression

mRNA:increased expression:pancreas

NCBI chr 7:92,974,006...92,993,990

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:pancreas
mRNA:increased expression:pancreas

PMID:12657964 PMID:16049287

RGD:2324942 RGD:2324946

NCBI chr 3:193,050,895...193,114,931

G

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

mRNA:increased expression:pancreas

PMID:7657125 PMID:10227724

RGD:2324907 RGD:2324986

NCBI chr11:1,191,223...1,234,373

G

mucin 5B, oligomeric mucus/gel-forming

mRNA:increased expression:pancreas

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

NME/NM23 nucleoside diphosphate kinase 1

protein:increased expression:pancreas (human)

NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636

G

nitric oxide synthase 2

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

PMID:19028876 PMID:19208345 PMID:20484026

RGD:2325323 RGD:2325324

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

notch receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

G

neurotrophic receptor tyrosine kinase 3

disease_progression

protein:increased expression:pancreas

PMID:10209957 PMID:11295066

RGD:2325660 RGD:2325663

NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204

G

oncostatin M

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,298,965...11,303,009
Ensembl chr22:29,101,085...29,105,081

G

palladin, cytoskeletal associated protein

protein:increased expression, alternative form:pancreas, fibroblast

NCBI chr 4:160,718,475...161,140,436

G

paired box 6

protein:increased expression:pancreatic duct (human)

NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474

G

PMS1 homolog 1, mismatch repair system component

protein:increased expression:pancreatic duct

NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492

G

peroxisome proliferator activated receptor gamma

disease_progression

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

prostaglandin-endoperoxide synthase 2

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

ring finger protein 2

protein:increased expression:pancreas

NCBI chr 1:160,568,438...160,626,783
Ensembl chr 1:164,721,458...164,779,420

G

retinoid X receptor alpha

severity

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

serpin family A member 1

mRNA, protein:increased expression:pancreas

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

solute carrier family 2 member 2

protein:increased expression:pancreatic duct

NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722

G

SMAD family member 4

disease_progression

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

smoothened, frizzled class receptor

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

serine/threonine kinase 11

CTD Direct Evidence: marker/mechanism

Ensembl chr19:1,188,537...1,210,677

G

transforming growth factor beta 1

disease_progression

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta receptor 2

disease_progression

mRNA:increased expresssion:pancreas

PMID:10547197 PMID:17114585

RGD:2317498 RGD:2317500

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

thrombospondin 1

disease_progression

DNA:hypermethylation:promoter (human)

PMID:12429967 PMID:19065635

RGD:2325022 RGD:2325025

NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170

G

transmembrane serine protease 3

NCBI chr21:28,679,488...28,703,313
Ensembl chr21:41,997,642...42,022,740

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TSC complex subunit 2

severity

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

thymidine phosphorylase

disease_progression

NCBI chr22:30,772,088...30,776,618

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

von Hippel-Lindau tumor suppressor

DNA:hypermethylation:promoter (human)

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

G

YEATS domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:180,736,213...180,847,545
Ensembl chr 3:188,903,615...189,016,942

G

zinc finger ZZ-type containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:76,783,387...76,902,711
Ensembl chr 1:78,866,284...78,986,872

pancreatic endocrine carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas

PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

cut like homeobox 1

exacerbates

protein:increased expression:pancreas (human)

NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940

G

death domain associated protein

disease_progression

DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas

PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More...

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

placental growth factor

treatment
disease_progression

human cells in a mouse model
protein:increased expression:serum (human)

PMID:23463017 PMID:26861455

RGD:14349029 RGD:14349030

NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964

Pancreatic Fistula

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

spontaneous

associated with Postoperative Complications;

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

pancreatic hypoplasia-diabetes-congenital heart disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 6

ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 More...

NCBI chr18:15,411,764...15,444,402

pancreatic intraductal papillary-mucinous neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

DNA:missense mutation:cds:p.E17K (human)

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

tumor protein p53

DNA:missense mutations: :multiple

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

vascular endothelial growth factor D

protein:increased expression:blood serum (human)

NCBI chr X:7,972,227...8,011,263
Ensembl chr X:15,254,945...15,293,704

Pancreatic Intraepithelial Neoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anterior gradient 2, protein disulphide isomerase family member

protein:increased expression:pancreas

NCBI chr 7:17,446,275...17,489,802
Ensembl chr 7:16,773,281...16,785,879

G

BMI1 proto-oncogene, polycomb ring finger

protein:increased expression:pancreatic acinar cell:
protein:increased expression:exocrine pancreas:

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

G

chromobox 7

disease_progression

protein:decreased expression:pancreas

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

cyclin D1

disease_progression

protein:increased expression:pancreas (human)

PMID:11751405 PMID:12882690

RGD:13462061 RGD:13464129

NCBI chr11:64,737,006...64,750,353

G

DNA methyltransferase 1

protein:increased expression:pancreas

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

histone deacetylase 1

protein:increased expression:pancreas

NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410

G

inhibitor of nuclear factor kappa B kinase subunit beta

severity
disease_progression

PMID:22056382 PMID:22406536

RGD:13838740 RGD:13838742

NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971

Pancreatic Lipase Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pancreatic lipase

ClinVar Annotator: match by term: Pancreatic lipase deficiency

PMID:24262094 PMID:25741868 PMID:25862608 PMID:28492532 PMID:35284057

NCBI chr10:113,067,443...113,158,473
Ensembl chr10:116,568,273...116,589,729

pancreatic mucinous cystadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

severity

DNA:mutations:cds:

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

Pancreatic Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NIMA related kinase 8

ClinVar Annotator: match by term: Pancreatic neoplasm

NCBI chr17:28,033,001...28,048,157
Ensembl chr17:28,539,621...28,550,860

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Pancreatic neoplasm

PMID:10408777 PMID:12865922 PMID:16287113 PMID:16582077 PMID:17026623 More...

Ensembl chr19:1,188,537...1,210,677

G

serine/threonine kinase 33

ClinVar Annotator: match by term: Pancreatic neoplasm

NCBI chr11:8,509,927...8,719,411
Ensembl chr11:8,255,960...8,339,134

G

TTK protein kinase

ClinVar Annotator: match by term: Pancreatic neoplasm

NCBI chr 6:77,887,382...77,925,737
Ensembl chr 6:81,158,143...81,196,478

pancreatic solid pseudopapillary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin D1

severity

protein:increased expression:pancreas (human)

NCBI chr11:64,737,006...64,750,353

pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

bradykinin receptor B2

NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253

G

BCL2 interacting protein 3 like

mRNA, protein:increased expression:lung

NCBI chr 8:25,661,629...25,685,878
Ensembl chr 8:22,567,428...22,593,004

G

caspase 3

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

cholecystokinin

CTD Direct Evidence: marker/mechanism

PMID:16187300 PMID:16499907

NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396

G

C-C motif chemokine ligand 2

PMID:16284287 PMID:18297440 PMID:19111613

RGD:2307002 RGD:2307046 RGD:8549548

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 5

protein:increased expression:pancreas (rat)
associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human)

PMID:16614115 PMID:16843865

RGD:2307146 RGD:2317568

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

CD14 molecule

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Pancreatitis | ClinVar Annotator: match by term: Recurrent pancreatitis

PMID:1370875 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 More...

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

claudin 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:96,020,274...96,031,157
Ensembl chr X:106,405,879...106,406,571

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,017,141...86,044,889

G

cannabinoid receptor 2

protein:decreased expression:pancreas, acinar cell
CTD Direct Evidence: marker/mechanism

PMID:17484889 PMID:19070664

NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090

G

carboxypeptidase A1

OMIM:167800

NCBI chr 7:122,335,250...122,353,369
Ensembl chr 7:134,861,920...134,871,834

G

cathepsin L

protein:altered processing:pancreas (rat)

NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303

G

dual specificity phosphatase 1

mRNA:increased expression:pancreas

NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960

G

dual specificity phosphatase 10

mRNA:increased expression:pancreas

NCBI chr 1:197,293,039...197,333,828
Ensembl chr 1:202,367,318...202,404,720

G

dual specificity phosphatase 6

mRNA:increased expression:pancreas

NCBI chr12:86,875,289...86,879,731
Ensembl chr12:90,195,482...90,200,321

G

epidermal growth factor

protein:decreased expression:serum

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

early growth response 1

mRNA, protein:increased expression:pancreas (rat)

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

ferredoxin 1

mRNA:increased expression:pancreatic acinar cell (rat)

NCBI chr11:105,311,613...105,345,414

G

fibrinogen alpha chain

protein:increased expression:pancreas, rough endoplasmic reticulum

NCBI chr 4:146,949,680...146,957,291

G

fibrinogen beta chain

protein:increased expression:pancreas, rough endoplasmic reticulum

NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766

G

fibrinogen gamma chain

protein:increased expression:pancreas, rough endoplasmic reticulum

NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237

G

hepatocyte growth factor

CTD Direct Evidence: therapeutic

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

heat shock protein 90 alpha family class B member 1

mRNA:increased expression:lung (rat)

NCBI chr 6:43,842,796...43,849,637
Ensembl chr 6:45,125,773...45,133,872

G

5-hydroxytryptamine receptor 2A

NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum

PMID:12923961 PMID:23125085

RGD:2325163 RGD:8547728

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971

G

interleukin 10

protein:increased expression:serum

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 13

protein:increased expression:pancreas

NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

G

interleukin 15

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 18

treatment

protein:increased expression:serum

PMID:19238530 PMID:23983797

RGD:4889404 RGD:8655988

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

insulin

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

integrin subunit beta 2

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

kallikrein 1

protein:increased expression:pancreas

NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216

G

leptin receptor

DNA:missense mutation:CDS:p.Q269P (rat)

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

lipoprotein lipase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966

G

mitogen-activated protein kinase kinase 1

severity

NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161

G

MDM2 proto-oncogene

protein:increased expression:pancreas (rat)

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

MET proto-oncogene, receptor tyrosine kinase

mRNA:increased expression:pancreas (rat)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111

G

nucleotide binding oligomerization domain containing 2

protein, mRNA:decreased expression:pancreas, blood cells

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

nuclear protein 1, transcriptional regulator

CTD Direct Evidence: marker/mechanism

Ensembl chr16:29,015,155...29,016,987

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

platelet derived growth factor subunit A

associated with Reperfusion Injury;protein:increased expression:blood vessel

NCBI chr 7:648,722...672,023

G

platelet derived growth factor subunit B

protein: increased expression: serum

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

peroxisome proliferator activated receptor gamma

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

protein phosphatase 3 catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394

G

prostaglandin-endoperoxide synthase 2

onset

CTD Direct Evidence: marker/mechanism

PMID:19820421 PMID:21372163

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

ras homolog family member B

ClinVar Annotator: match by term: Recurrent pancreatitis

PMID:25741868 PMID:32989326

NCBI chr2A:20,433,576...20,435,986
Ensembl chr2A:20,549,254...20,549,844

G

selectin L

NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393

G

serpin family A member 1

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

serpin family G member 1

treatment

NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639

G

smoothened, frizzled class receptor

protein:increased expression:pancreas

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

serine peptidase inhibitor Kazal type 1

ClinVar Annotator: match by term: Pancreatitis

PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More...

NCBI chr 5:143,273,137...143,287,745

G

serum response factor

NCBI chr 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768

G

somatostatin

CTD Direct Evidence: therapeutic

NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337

G

tachykinin precursor 1

mRNA:increased expression:lung, pancreas

NCBI chr 7:89,675,834...89,684,391
Ensembl chr 7:103,257,501...103,266,389

G

tachykinin receptor 1

mRNA, protein:increased expression:lung, pancreas

PMID:16369913 PMID:18580444

RGD:2304266 RGD:5147636

NCBI chr2A:75,111,339...75,267,320
Ensembl chr2A:76,614,478...76,771,018

G

toll like receptor 2

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 3

protein:increased expression:spinal cord dorsal horn (rat)

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

G

toll like receptor 4

PMID:19201771 PMID:19260515

RGD:2312507 RGD:4144143

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

transmembrane protein 67

ClinVar Annotator: match by term: Pancreatitis

PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More...

NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437

G

transient receptor potential cation channel subfamily V member 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579

G

vascular cell adhesion molecule 1

protein:increased expression:serum

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

xanthine dehydrogenase

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

renal-hepatic-pancreatic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nephrocystin 3

ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia

NCBI chr 3:129,753,399...129,795,300

Renal-Hepatic-Pancreatic Dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nephrocystin 3

ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1

PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More...

NCBI chr 3:129,753,399...129,795,300

Renal-Hepatic-Pancreatic Dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NIMA related kinase 8

ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2

PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 More...

NCBI chr17:28,033,001...28,048,157
Ensembl chr17:28,539,621...28,550,860

Shwachman-Diamond syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C21

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More...

NCBI chr 5:75,411,784...75,440,485
Ensembl chr 5:80,695,390...80,719,741

G

signal recognition particle subunit SRP54

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977

NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More...

NCBI chr 7:59,090,343...59,098,332

G

serpin family I member 2

OMIM:260400

NCBI chr 3:164,456,089...164,491,001
Ensembl chr 3:172,513,698...172,545,458

G

signal recognition particle 19

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

NCBI chr 5:108,221,482...108,251,955
Ensembl chr 5:114,024,636...114,031,845

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1

NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347

Shwachman-Diamond Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elongation factor like GTPase 1

ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2

PMID:25741868 PMID:28331068 PMID:28492532 PMID:29970384 PMID:31151987 More...

NCBI chr15:61,111,244...61,243,724

Tropical Calcific Pancreatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine peptidase inhibitor Kazal type 1

ClinVar Annotator: match by term: Tropical calcific pancreatitis

PMID:10691414 PMID:10835640 PMID:11265669 PMID:11950815 PMID:12011155 More...

NCBI chr 5:143,273,137...143,287,745

vipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

menin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

somatostatin

CTD Direct Evidence: therapeutic

NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337

Term paths to the root

Path 1
Term	Annotations
disease	17996
disease of anatomical entity	15260
gastrointestinal system disease	6469
pancreas disease	893
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1	4
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2	1
Pancreatic Cyst +	4
Pancreatic Fistula	1
Pancreatic Lipase Deficiency	1
Pancreatic Lipomatosis Duodenal Stenosis	0
Pancreatic Neoplasms +	418
annular pancreas	2
cystic fibrosis +	91
endocrine pancreas disease +	359
exocrine pancreatic insufficiency +	11
neurohypophyseal diabetes insipidus +	1
opisthorchiasis	1
pancreatic agenesis +	4
pancreatic mucinous ductal ectasia	0
pancreatic steatorrhea	0
pancreatitis +	172
renal-hepatic-pancreatic dysplasia +	2

paths to the root